diff --git a/docs/metrics/doid.md b/docs/metrics/doid.md index 3454b2cf..532d53b3 100644 --- a/docs/metrics/doid.md +++ b/docs/metrics/doid.md @@ -2,16 +2,16 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/doid.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/doid.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-07-03/doid.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 27 | -| Axioms | 116206 | -| Logical axioms | 16161 | -| Classes | 13124 | +| Axioms | 116493 | +| Logical axioms | 16200 | +| Classes | 13147 | | Object properties | 0 | | Data properties | 0 | | Individuals | 0 | @@ -32,11 +32,11 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 86894 | +| AnnotationAssertion | 87119 | | SubAnnotationPropertyOf | 1 | | DisjointClasses | 26 | -| Declaration | 13150 | -| SubClassOf | 16135 | +| Declaration | 13173 | +| SubClassOf | 16174 | #### Entity namespaces: axiom counts by namespace @@ -45,7 +45,7 @@ | ------ | ----- | | oboInOwl | 12 | | owl | 2 | -| DOID | 11577 | +| DOID | 11600 | | HP | 118 | | xsd | 1 | | CL | 63 | @@ -70,7 +70,7 @@ | Metric | Value | | ------ | ----- | -| Class | 45606 | +| Class | 45707 | More information about the source can be found [in the documentation](../sources.md). The raw data (ontology metrics) can be found [on GitHub](https://github.com/monarch-initiative/mondo-ingest/tree/main/src/ontology/metadata). diff --git a/docs/metrics/gard.md b/docs/metrics/gard.md index cbd4dcc8..b8f524bc 100644 --- a/docs/metrics/gard.md +++ b/docs/metrics/gard.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/gard.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/gard.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-07-03/gard.owl ### Entities and axioms diff --git a/docs/metrics/icd10cm.md b/docs/metrics/icd10cm.md index b1408c0b..d7614009 100644 --- a/docs/metrics/icd10cm.md +++ b/docs/metrics/icd10cm.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/icd10cm.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-07-03/icd10cm.owl ### Entities and axioms diff --git a/docs/metrics/icd10who.md b/docs/metrics/icd10who.md index 16b06f90..213ea45f 100644 --- a/docs/metrics/icd10who.md +++ b/docs/metrics/icd10who.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/icd10who.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-07-03/icd10who.owl ### Entities and axioms diff --git a/docs/metrics/icd11foundation.md b/docs/metrics/icd11foundation.md index 8c17fa74..3ffb375c 100644 --- a/docs/metrics/icd11foundation.md +++ b/docs/metrics/icd11foundation.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd11foundation.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/icd11foundation.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-07-03/icd11foundation.owl ### Entities and axioms diff --git a/docs/metrics/ncit.md b/docs/metrics/ncit.md index 951df7f8..a3896588 100644 --- a/docs/metrics/ncit.md +++ b/docs/metrics/ncit.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ncit.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/ncit.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-07-03/ncit.owl ### Entities and axioms diff --git a/docs/metrics/omim.md b/docs/metrics/omim.md index 26afd750..de3ce0bc 100644 --- a/docs/metrics/omim.md +++ b/docs/metrics/omim.md @@ -2,16 +2,16 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/omim.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/omim.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-07-03/omim.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 18 | -| Axioms | 346174 | -| Logical axioms | 22747 | -| Classes | 19514 | +| Axioms | 346314 | +| Logical axioms | 22738 | +| Classes | 19512 | | Object properties | 7 | | Data properties | 0 | | Individuals | 0 | @@ -32,23 +32,23 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 303891 | +| AnnotationAssertion | 304042 | | SubAnnotationPropertyOf | 1 | -| Declaration | 19535 | -| SubClassOf | 22747 | +| Declaration | 19533 | +| SubClassOf | 22738 | #### Entity namespaces: axiom counts by namespace | Metric | Value | | ------ | ----- | -| prefix_unknown | 18068 | +| prefix_unknown | 18069 | | oboInOwl | 4 | | owl | 2 | | xsd | 1 | | skos | 1 | | rdfs | 2 | -| CHR | 1449 | +| CHR | 1446 | | MONDO | 1 | | rdf | 1 | | IAO | 2 | @@ -61,8 +61,8 @@ | Metric | Value | | ------ | ----- | -| Class | 64998 | -| ObjectSomeValuesFrom | 17818 | +| Class | 64978 | +| ObjectSomeValuesFrom | 17808 | More information about the source can be found [in the documentation](../sources.md). The raw data (ontology metrics) can be found [on GitHub](https://github.com/monarch-initiative/mondo-ingest/tree/main/src/ontology/metadata). diff --git a/docs/metrics/ordo.md b/docs/metrics/ordo.md index d56774ca..44922938 100644 --- a/docs/metrics/ordo.md +++ b/docs/metrics/ordo.md @@ -2,16 +2,16 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ordo.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/ordo.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-07-03/ordo.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 16 | -| Axioms | 206309 | -| Logical axioms | 42481 | -| Classes | 14917 | +| Axioms | 213414 | +| Logical axioms | 42867 | +| Classes | 15089 | | Object properties | 4 | | Data properties | 0 | | Individuals | 0 | @@ -32,10 +32,10 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 148893 | +| AnnotationAssertion | 155440 | | SubAnnotationPropertyOf | 1 | -| Declaration | 14934 | -| SubClassOf | 42481 | +| Declaration | 15106 | +| SubClassOf | 42867 | #### Entity namespaces: axiom counts by namespace @@ -43,7 +43,7 @@ | Metric | Value | | ------ | ----- | | dc11 | 1 | -| prefix_unknown | 14917 | +| prefix_unknown | 15089 | | oboInOwl | 6 | | owl | 2 | | rdf | 1 | @@ -60,8 +60,8 @@ | Metric | Value | | ------ | ----- | -| Class | 99879 | -| ObjectSomeValuesFrom | 6737 | +| Class | 100823 | +| ObjectSomeValuesFrom | 6771 | More information about the source can be found [in the documentation](../sources.md). The raw data (ontology metrics) can be found [on GitHub](https://github.com/monarch-initiative/mondo-ingest/tree/main/src/ontology/metadata). diff --git a/docs/reports/mapped_deprecated.md b/docs/reports/mapped_deprecated.md index 343a0ddc..8e3b712c 100644 --- a/docs/reports/mapped_deprecated.md +++ b/docs/reports/mapped_deprecated.md @@ -1,9 +1,9 @@ # Mapped deprecated terms | Ontology | Tot deprecated in Mondo | |:----------------------------------------------------------|--------------------------:| -| [DOID](./mapped_deprecated_doid.md) | 5 | +| [DOID](./mapped_deprecated_doid.md) | 6 | | [OMIM](./mapped_deprecated_omim.md) | 46 | -| [ORDO](./mapped_deprecated_ordo.md) | 226 | +| [ORDO](./mapped_deprecated_ordo.md) | 260 | | [NCIT](./mapped_deprecated_ncit.md) | 22 | | [GARD](./mapped_deprecated_gard.md) | 0 | | [ICD11FOUNDATION](./mapped_deprecated_icd11foundation.md) | 0 | diff --git a/docs/reports/mapped_deprecated_doid.md b/docs/reports/mapped_deprecated_doid.md index 2dcc2a84..5ccf1c79 100644 --- a/docs/reports/mapped_deprecated_doid.md +++ b/docs/reports/mapped_deprecated_doid.md @@ -6,6 +6,7 @@ |:--------------|:---------------------|:-------------------------| | ID | A oboInOwl:hasDbXref | >A oboInOwl:source | | MONDO:0001639 | DOID:13121 | MONDO:equivalentObsolete | +| MONDO:0006886 | DOID:3968 | MONDO:equivalentObsolete | | MONDO:0008024 | DOID:0111201 | MONDO:equivalentObsolete | | MONDO:0008025 | DOID:0111208 | MONDO:equivalentObsolete | | MONDO:0013127 | DOID:0050549 | MONDO:equivalentObsolete | diff --git a/docs/reports/mapped_deprecated_ordo.md b/docs/reports/mapped_deprecated_ordo.md index c7765ba2..7eda4cfe 100644 --- a/docs/reports/mapped_deprecated_ordo.md +++ b/docs/reports/mapped_deprecated_ordo.md @@ -9,35 +9,38 @@ | MONDO:0001807 | Orphanet:79211 | MONDO:equivalentObsolete | | MONDO:0003144 | Orphanet:251883 | MONDO:equivalentObsolete | | MONDO:0006042 | Orphanet:499004 | MONDO:equivalentObsolete | +| MONDO:0007482 | Orphanet:1765 | MONDO:equivalentObsolete | +| MONDO:0007562 | Orphanet:166011 | MONDO:equivalentObsolete | | MONDO:0007761 | Orphanet:413 | MONDO:equivalentObsolete | | MONDO:0007779 | Orphanet:306588 | MONDO:equivalentObsolete | | MONDO:0008018 | Orphanet:587 | MONDO:equivalentObsolete | -| MONDO:0008083 | Orphanet:228343 | MONDO:equivalentObsolete | +| MONDO:0008137 | Orphanet:2756 | MONDO:equivalentObsolete | | MONDO:0008157 | Orphanet:1306 | MONDO:equivalentObsolete | +| MONDO:0008158 | Orphanet:1562 | MONDO:equivalentObsolete | +| MONDO:0008196 | Orphanet:2646 | MONDO:equivalentObsolete | | MONDO:0008227 | Orphanet:1795 | MONDO:equivalentObsolete | -| MONDO:0008767 | Orphanet:228346 | MONDO:equivalentObsolete | +| MONDO:0008237 | Orphanet:2878 | MONDO:equivalentObsolete | +| MONDO:0008711 | Orphanet:65798 | MONDO:equivalentObsolete | | MONDO:0008768 | Orphanet:228340 | MONDO:equivalentObsolete | -| MONDO:0008769 | Orphanet:228349 | MONDO:equivalentObsolete | | MONDO:0008816 | Orphanet:1136 | MONDO:equivalentObsolete | | MONDO:0008882 | Orphanet:2292 | MONDO:equivalentObsolete | | MONDO:0009317 | Orphanet:1245 | MONDO:equivalentObsolete | -| MONDO:0009744 | Orphanet:228329 | MONDO:equivalentObsolete | -| MONDO:0009745 | Orphanet:228360 | MONDO:equivalentObsolete | +| MONDO:0009592 | Orphanet:1240 | MONDO:equivalentObsolete | +| MONDO:0009793 | Orphanet:2752 | MONDO:equivalentObsolete | | MONDO:0010045 | Orphanet:2823 | MONDO:equivalentObsolete | -| MONDO:0010830 | Orphanet:228354 | MONDO:equivalentObsolete | +| MONDO:0010090 | Orphanet:3210 | MONDO:equivalentObsolete | +| MONDO:0010785 | Orphanet:225 | MONDO:equivalentObsolete | | MONDO:0010994 | Orphanet:2641 | MONDO:equivalentObsolete | -| MONDO:0011144 | Orphanet:228363 | MONDO:equivalentObsolete | | MONDO:0011910 | Orphanet:265 | MONDO:equivalentObsolete | | MONDO:0012188 | Orphanet:228357 | MONDO:equivalentObsolete | | MONDO:0012282 | Orphanet:2725 | MONDO:equivalentObsolete | | MONDO:0012296 | Orphanet:268835 | MONDO:equivalentObsolete | -| MONDO:0012414 | Orphanet:228337 | MONDO:equivalentObsolete | -| MONDO:0012588 | Orphanet:228366 | MONDO:equivalentObsolete | | MONDO:0013297 | Orphanet:238755 | MONDO:equivalentObsolete | +| MONDO:0013540 | Orphanet:3226 | MONDO:equivalentObsolete | | MONDO:0013621 | Orphanet:306507 | MONDO:equivalentObsolete | -| MONDO:0013866 | Orphanet:314629 | MONDO:equivalentObsolete | -| MONDO:0014147 | Orphanet:352709 | MONDO:equivalentObsolete | +| MONDO:0014700 | Orphanet:2729 | MONDO:equivalentObsolete | | MONDO:0014788 | Orphanet:466801 | MONDO:equivalentObsolete | +| MONDO:0015100 | Orphanet:101096 | MONDO:equivalentObsolete | | MONDO:0015120 | Orphanet:101949 | MONDO:equivalentObsolete | | MONDO:0015163 | Orphanet:102373 | MONDO:equivalentObsolete | | MONDO:0015172 | Orphanet:103912 | MONDO:equivalentObsolete | @@ -48,14 +51,19 @@ | MONDO:0015297 | Orphanet:137653 | MONDO:equivalentObsolete | | MONDO:0015311 | Orphanet:137911 | MONDO:equivalentObsolete | | MONDO:0015343 | Orphanet:139420 | MONDO:equivalentObsolete | +| MONDO:0015421 | Orphanet:141327 | MONDO:equivalentObsolete | +| MONDO:0015422 | Orphanet:141330 | MONDO:equivalentObsolete | +| MONDO:0015445 | Orphanet:1455 | MONDO:equivalentObsolete | | MONDO:0015551 | Orphanet:158665 | MONDO:equivalentObsolete | | MONDO:0015560 | Orphanet:158796 | MONDO:equivalentObsolete | | MONDO:0015591 | Orphanet:163903 | MONDO:equivalentObsolete | | MONDO:0015593 | Orphanet:163914 | MONDO:equivalentObsolete | | MONDO:0015594 | Orphanet:163918 | MONDO:equivalentObsolete | | MONDO:0015602 | Orphanet:163988 | MONDO:equivalentObsolete | +| MONDO:0015674 | Orphanet:168491 | MONDO:equivalentObsolete | | MONDO:0015713 | Orphanet:169615 | MONDO:equivalentObsolete | | MONDO:0015714 | Orphanet:169618 | MONDO:equivalentObsolete | +| MONDO:0015807 | Orphanet:178493 | MONDO:equivalentObsolete | | MONDO:0015902 | Orphanet:181425 | MONDO:equivalentObsolete | | MONDO:0015919 | Orphanet:182073 | MONDO:equivalentObsolete | | MONDO:0015920 | Orphanet:182076 | MONDO:equivalentObsolete | @@ -73,6 +81,8 @@ | MONDO:0016254 | Orphanet:213574 | MONDO:equivalentObsolete | | MONDO:0016285 | Orphanet:213817 | MONDO:equivalentObsolete | | MONDO:0016351 | Orphanet:2194 | MONDO:equivalentObsolete | +| MONDO:0016531 | Orphanet:238 | MONDO:equivalentObsolete | +| MONDO:0016537 | Orphanet:238510 | MONDO:equivalentObsolete | | MONDO:0016626 | Orphanet:248305 | MONDO:equivalentObsolete | | MONDO:0016715 | Orphanet:251880 | MONDO:equivalentObsolete | | MONDO:0016795 | Orphanet:254793 | MONDO:equivalentObsolete | @@ -81,6 +91,7 @@ | MONDO:0016993 | Orphanet:263558 | MONDO:equivalentObsolete | | MONDO:0016997 | Orphanet:263676 | MONDO:equivalentObsolete | | MONDO:0017036 | Orphanet:264955 | MONDO:equivalentObsolete | +| MONDO:0017041 | Orphanet:2653 | MONDO:equivalentObsolete | | MONDO:0017063 | Orphanet:268377 | MONDO:equivalentObsolete | | MONDO:0017064 | Orphanet:268384 | MONDO:equivalentObsolete | | MONDO:0017065 | Orphanet:268388 | MONDO:equivalentObsolete | @@ -114,39 +125,55 @@ | MONDO:0017540 | Orphanet:295181 | MONDO:equivalentObsolete | | MONDO:0017541 | Orphanet:295183 | MONDO:equivalentObsolete | | MONDO:0017542 | Orphanet:295185 | MONDO:equivalentObsolete | +| MONDO:0017552 | Orphanet:295213 | MONDO:equivalentObsolete | +| MONDO:0017553 | Orphanet:295215 | MONDO:equivalentObsolete | +| MONDO:0017554 | Orphanet:295217 | MONDO:equivalentObsolete | +| MONDO:0017555 | Orphanet:295219 | MONDO:equivalentObsolete | | MONDO:0017655 | Orphanet:306762 | MONDO:equivalentObsolete | | MONDO:0017728 | Orphanet:309239 | MONDO:equivalentObsolete | | MONDO:0017772 | Orphanet:31142 | MONDO:equivalentObsolete | | MONDO:0017984 | Orphanet:3267 | MONDO:equivalentObsolete | | MONDO:0017996 | Orphanet:329255 | MONDO:equivalentObsolete | +| MONDO:0018093 | Orphanet:344 | MONDO:equivalentObsolete | | MONDO:0018104 | Orphanet:3460 | MONDO:equivalentObsolete | | MONDO:0018107 | Orphanet:35061 | MONDO:equivalentObsolete | | MONDO:0018110 | Orphanet:35064 | MONDO:equivalentObsolete | | MONDO:0018113 | Orphanet:35098 | MONDO:equivalentObsolete | | MONDO:0018138 | Orphanet:352740 | MONDO:equivalentObsolete | +| MONDO:0018239 | Orphanet:364817 | MONDO:equivalentObsolete | | MONDO:0018255 | Orphanet:370019 | MONDO:equivalentObsolete | | MONDO:0018285 | Orphanet:371054 | MONDO:equivalentObsolete | | MONDO:0018286 | Orphanet:371064 | MONDO:equivalentObsolete | +| MONDO:0018368 | Orphanet:398980 | MONDO:equivalentObsolete | | MONDO:0018627 | Orphanet:443287 | MONDO:equivalentObsolete | | MONDO:0018665 | Orphanet:448348 | MONDO:equivalentObsolete | +| MONDO:0018718 | Orphanet:458827 | MONDO:equivalentObsolete | | MONDO:0018722 | Orphanet:458841 | MONDO:equivalentObsolete | | MONDO:0018912 | Orphanet:553 | MONDO:equivalentObsolete | +| MONDO:0019000 | Orphanet:65250 | MONDO:equivalentObsolete | | MONDO:0019083 | Orphanet:70474 | MONDO:equivalentObsolete | | MONDO:0019116 | Orphanet:717 | MONDO:equivalentObsolete | | MONDO:0019165 | Orphanet:759 | MONDO:equivalentObsolete | +| MONDO:0019260 | Orphanet:79262 | MONDO:equivalentObsolete | +| MONDO:0019261 | Orphanet:79263 | MONDO:equivalentObsolete | +| MONDO:0019262 | Orphanet:79264 | MONDO:equivalentObsolete | | MONDO:0019348 | Orphanet:82004 | MONDO:equivalentObsolete | | MONDO:0019389 | Orphanet:83648 | MONDO:equivalentObsolete | | MONDO:0019410 | Orphanet:85196 | MONDO:equivalentObsolete | +| MONDO:0019413 | Orphanet:85200 | MONDO:equivalentObsolete | | MONDO:0019520 | Orphanet:89832 | MONDO:equivalentObsolete | | MONDO:0019657 | Orphanet:93221 | MONDO:equivalentObsolete | | MONDO:0019658 | Orphanet:93222 | MONDO:equivalentObsolete | | MONDO:0019675 | Orphanet:93359 | MONDO:equivalentObsolete | +| MONDO:0019689 | Orphanet:93424 | MONDO:equivalentObsolete | | MONDO:0019723 | Orphanet:93550 | MONDO:equivalentObsolete | | MONDO:0019724 | Orphanet:93551 | MONDO:equivalentObsolete | +| MONDO:0019735 | Orphanet:93569 | MONDO:equivalentObsolete | | MONDO:0019765 | Orphanet:93942 | MONDO:equivalentObsolete | | MONDO:0019774 | Orphanet:93970 | MONDO:equivalentObsolete | | MONDO:0019776 | Orphanet:93972 | MONDO:equivalentObsolete | | MONDO:0019779 | Orphanet:93975 | MONDO:equivalentObsolete | +| MONDO:0019800 | Orphanet:95161 | MONDO:equivalentObsolete | | MONDO:0019826 | Orphanet:95493 | MONDO:equivalentObsolete | | MONDO:0019847 | Orphanet:95701 | MONDO:equivalentObsolete | | MONDO:0019894 | Orphanet:96136 | MONDO:equivalentObsolete | @@ -218,6 +245,8 @@ | MONDO:0020280 | Orphanet:98712 | MONDO:equivalentObsolete | | MONDO:0020281 | Orphanet:98713 | MONDO:equivalentObsolete | | MONDO:0020282 | Orphanet:98714 | MONDO:equivalentObsolete | +| MONDO:0020365 | Orphanet:98975 | MONDO:equivalentObsolete | +| MONDO:0020474 | Orphanet:99647 | MONDO:equivalentObsolete | | MONDO:0020489 | Orphanet:99763 | MONDO:equivalentObsolete | | MONDO:0020524 | Orphanet:99878 | MONDO:equivalentObsolete | | MONDO:0020529 | Orphanet:99893 | MONDO:equivalentObsolete | @@ -227,7 +256,12 @@ | MONDO:0022414 | Orphanet:1526 | MONDO:equivalentObsolete | | MONDO:0022921 | Orphanet:2861 | MONDO:equivalentObsolete | | MONDO:0023072 | Orphanet:1939 | MONDO:equivalentObsolete | +| MONDO:0032780 | Orphanet:656273 | MONDO:equivalentObsolete | | MONDO:0034556 | Orphanet:493348 | MONDO:equivalentObsolete | +| MONDO:0035667 | Orphanet:592885 | MONDO:equivalentObsolete | +| MONDO:0035668 | Orphanet:592888 | MONDO:equivalentObsolete | | MONDO:0043007 | Orphanet:330197 | MONDO:equivalentObsolete | | MONDO:0044683 | Orphanet:498700 | MONDO:equivalentObsolete | -| MONDO:0100343 | Orphanet:93604 | MONDO:equivalentObsolete | \ No newline at end of file +| MONDO:0100343 | Orphanet:93604 | MONDO:equivalentObsolete | +| MONDO:0800045 | Orphanet:476102 | MONDO:equivalentObsolete | +| MONDO:0850001 | Orphanet:168486 | MONDO:equivalentObsolete | \ No newline at end of file diff --git a/docs/reports/migrate.md b/docs/reports/migrate.md index 65ab1d9b..346d87ba 100644 --- a/docs/reports/migrate.md +++ b/docs/reports/migrate.md @@ -2,13 +2,13 @@ | Ontology | Tot | |:------------------------------------------------|:-------| | [GARD](./migrate_gard.md) | 9,370 | -| [DOID](./migrate_doid.md) | 34 | +| [DOID](./migrate_doid.md) | 33 | | [NCIT](./migrate_ncit.md) | 2,209 | +| [OMIM](./migrate_omim.md) | 2 | | [ICD11FOUNDATION](./migrate_icd11foundation.md) | 12,409 | | [ICD10WHO](./migrate_icd10who.md) | 119 | -| [ICD10CM](./migrate_icd10cm.md) | 1,889 | -| [OMIM](./migrate_omim.md) | 0 | -| [ORDO](./migrate_ordo.md) | 0 | +| [ORDO](./migrate_ordo.md) | 102 | +| [ICD10CM](./migrate_icd10cm.md) | 1,892 | ### Codebook `Ontology`: Name of ontology diff --git a/docs/reports/migrate_doid.md b/docs/reports/migrate_doid.md index ea8119b2..ccf25836 100644 --- a/docs/reports/migrate_doid.md +++ b/docs/reports/migrate_doid.md @@ -2,40 +2,39 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/doid.tsv) ### Migratable terms -| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | -|:--------------|:-------------------------------------------------------------------------------------|:---------------------|:---------------------------|:-------------------------------------------------------------------------------------|:------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|:--------------------------------------------------------| -| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | -| MONDO:0958281 | mitochondrial complex v (atp synthase) deficiency nuclear type 4 | DOID:0060333 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | | MONDO:0014471 | -| MONDO:0958318 | chronic inflammatory demyelinating polyneuritis | DOID:2536 | MONDO:equivalentTo | chronic inflammatory demyelinating polyneuritis | | MONDO:0002336 | -| MONDO:0958319 | congenital kyphosis | DOID:4668 | MONDO:equivalentTo | congenital kyphosis | | | -| MONDO:0958320 | postural kyphosis | DOID:9373 | MONDO:equivalentTo | postural kyphosis | | | -| MONDO:0958359 | childhood spinal muscular atrophy | DOID:0060160 | MONDO:equivalentTo | childhood spinal muscular atrophy | | MONDO:0001516 | -| MONDO:0958360 | cholesterol-ester transfer protein deficiency | DOID:0111368 | MONDO:equivalentTo | cholesterol-ester transfer protein deficiency | | MONDO:0002525 | -| MONDO:0968993 | aleutian mink disease | DOID:2934 | MONDO:equivalentTo | aleutian mink disease | | MONDO:0005108 | -| MONDO:0968994 | borna disease | DOID:5154 | MONDO:equivalentTo | borna disease | | MONDO:0005108|MONDO:0002602 | -| MONDO:0970966 | ullrich congenital muscular dystrophy 2 | DOID:0060948 | MONDO:equivalentTo | Ullrich congenital muscular dystrophy 2 | | MONDO:0000355 | -| MONDO:0970967 | 3-hydroxyisobutryl-coa hydrolase deficiency | DOID:0060949 | MONDO:equivalentTo | 3-hydroxyisobutryl-CoA hydrolase deficiency | | MONDO:0006025|MONDO:0004736 | -| MONDO:0970968 | hypervalinemia and hyperleucine-isoleucinemia | DOID:0060950 | MONDO:equivalentTo | hypervalinemia and hyperleucine-isoleucinemia | An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13. | MONDO:0004736|MONDO:0006025 | -| MONDO:0970969 | polycystic kidney disease 6 | DOID:0060951 | MONDO:equivalentTo | polycystic kidney disease 6 | An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27. | MONDO:0004691 | -| MONDO:0970970 | polycystic kidney disease 7 | DOID:0060952 | MONDO:equivalentTo | polycystic kidney disease 7 | A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13. | MONDO:0004691 | -| MONDO:0970971 | zttk syndrome | DOID:0060953 | MONDO:equivalentTo | ZTTK syndrome | | MONDO:0000426|MONDO:0002254 | -| MONDO:0970972 | holoprosencephaly 13, x-linked | DOID:0060954 | MONDO:equivalentTo | Holoprosencephaly 13, X-linked | | MONDO:0016296|MONDO:0020605|MONDO:0020604 | -| MONDO:0970973 | orofaciodigital syndrome xiv | DOID:0060958 | MONDO:equivalentTo | orofaciodigital syndrome XIV | | MONDO:0015375|MONDO:0006025 | -| MONDO:0970974 | orofaciodigital syndrome ii | DOID:0060959 | MONDO:equivalentTo | orofaciodigital syndrome II | | MONDO:0015375|MONDO:0006025 | -| MONDO:0970975 | orofaciodigital syndrome xix | DOID:0060960 | MONDO:equivalentTo | orofaciodigital syndrome XIX | | MONDO:0015375|MONDO:0006025 | -| MONDO:0970976 | orofaciodigital syndrome xviii | DOID:0060961 | MONDO:equivalentTo | orofaciodigital syndrome XVIII | | MONDO:0006025|MONDO:0015375 | -| MONDO:0970977 | orofaciodigital syndrome xx | DOID:0060962 | MONDO:equivalentTo | orofaciodigital syndrome XX | | MONDO:0015375|MONDO:0006025 | -| MONDO:0970978 | loeys-dietz syndrome 6 | DOID:0060964 | MONDO:equivalentTo | Loeys-Dietz syndrome 6 | | MONDO:0018954 | -| MONDO:0970979 | episodic ataxia type 9 | DOID:0060965 | MONDO:equivalentTo | episodic ataxia type 9 | | MONDO:0016227|MONDO:0000426 | -| MONDO:0970980 | hypotrichosis 15 | DOID:0060968 | MONDO:equivalentTo | hypotrichosis 15 | | MONDO:0003037|MONDO:0006025 | -| MONDO:0970981 | galactosemia 4 | DOID:0060969 | MONDO:equivalentTo | galactosemia 4 | | MONDO:0018116 | -| MONDO:0970982 | cornelia de lange syndrome 6 | DOID:0060970 | MONDO:equivalentTo | Cornelia de Lange syndrome 6 | | MONDO:0016033|MONDO:0000426 | -| MONDO:0970983 | mitochondrial short-chain enoyl-coa hydratase 1 deficiency | DOID:0070540 | MONDO:equivalentTo | mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | | MONDO:0004736|MONDO:0002525|MONDO:0004069|MONDO:0006025 | -| MONDO:0970984 | 3-hydroxy-3-methylglutaryl-coa lyase deficiency | DOID:0070541 | MONDO:equivalentTo | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | | MONDO:0004736|MONDO:0006025 | -| MONDO:0970985 | neurodevelopmental disorder with spastic paraplegia and microcephaly | DOID:0070542 | MONDO:equivalentTo | neurodevelopmental disorder with spastic paraplegia and microcephaly | | MONDO:0019502|MONDO:0004736 | -| MONDO:0970986 | neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | DOID:0070543 | MONDO:equivalentTo | neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | | MONDO:0004736|MONDO:0004069|MONDO:0006025 | -| MONDO:0970987 | congenital glutamine deficiency | DOID:0070544 | MONDO:equivalentTo | congenital glutamine deficiency | | MONDO:0004736|MONDO:0006025 | -| MONDO:0970988 | developmental and epileptic encephalopathy 116 | DOID:0070545 | MONDO:equivalentTo | developmental and epileptic encephalopathy 116 | | MONDO:0004736|MONDO:0100062|MONDO:0000426 | -| MONDO:0970989 | dent disease 1 | DOID:0081453 | MONDO:equivalentTo | Dent disease 1 | A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent. | MONDO:0015612 | -| MONDO:0970990 | dent disease 2 | DOID:0081454 | MONDO:equivalentTo | Dent disease 2 | A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26. | MONDO:0015612 | -| MONDO:0970991 | papilledema | DOID:146 | MONDO:equivalentTo | papilledema | | MONDO:0002135 | \ No newline at end of file +| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | +|:--------------|:--------------------------------------------------------------------|:---------------------|:---------------------------|:--------------------------------------------------------------------|:----------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|:----------------------------| +| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | +| MONDO:0958281 | mitochondrial complex v (atp synthase) deficiency nuclear type 4 | DOID:0060333 | MONDO:equivalentTo | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | | MONDO:0014471 | +| MONDO:0958318 | chronic inflammatory demyelinating polyneuritis | DOID:2536 | MONDO:equivalentTo | chronic inflammatory demyelinating polyneuritis | | MONDO:0002336 | +| MONDO:0958319 | congenital kyphosis | DOID:4668 | MONDO:equivalentTo | congenital kyphosis | | | +| MONDO:0958320 | postural kyphosis | DOID:9373 | MONDO:equivalentTo | postural kyphosis | | | +| MONDO:0958359 | childhood spinal muscular atrophy | DOID:0060160 | MONDO:equivalentTo | childhood spinal muscular atrophy | | MONDO:0001516 | +| MONDO:0958360 | cholesterol-ester transfer protein deficiency | DOID:0111368 | MONDO:equivalentTo | cholesterol-ester transfer protein deficiency | | MONDO:0002525 | +| MONDO:0968993 | aleutian mink disease | DOID:2934 | MONDO:equivalentTo | aleutian mink disease | | MONDO:0005108 | +| MONDO:0968994 | borna disease | DOID:5154 | MONDO:equivalentTo | borna disease | | MONDO:0005108|MONDO:0002602 | +| MONDO:0970991 | papilledema | DOID:146 | MONDO:equivalentTo | papilledema | | MONDO:0002135 | +| MONDO:0970996 | interstitial lung disease 2 | DOID:0060971 | MONDO:equivalentTo | interstitial lung disease 2 | | MONDO:0015925|MONDO:0000426 | +| MONDO:0970997 | renal hypomagnesemia 7, with or without dilated cardiomyopathy | DOID:0060972 | MONDO:equivalentTo | renal hypomagnesemia 7, with or without dilated cardiomyopathy | | MONDO:0018100|MONDO:0000426 | +| MONDO:0971003 | whim syndrome 2 | DOID:0060973 | MONDO:equivalentTo | WHIM syndrome 2 | | MONDO:0003778|MONDO:0006025 | +| MONDO:0971017 | autosomal recessive robinow syndrome 2 | DOID:0060974 | MONDO:equivalentTo | autosomal recessive Robinow syndrome 2 | | MONDO:0019978|MONDO:0006025 | +| MONDO:0971018 | polycystic liver disease 2 | DOID:0060975 | MONDO:equivalentTo | polycystic liver disease 2 | | MONDO:0005154|MONDO:0000426 | +| MONDO:0971019 | polycystic liver disease 3 with or without kidney cysts | DOID:0060976 | MONDO:equivalentTo | polycystic liver disease 3 with or without kidney cysts | | MONDO:0005154|MONDO:0000426 | +| MONDO:0971020 | polycystic liver disease 4 with or without kidney cysts | DOID:0060977 | MONDO:equivalentTo | polycystic liver disease 4 with or without kidney cysts | | MONDO:0005154|MONDO:0000426 | +| MONDO:0971021 | primary pigmented nodular adrenocortical disease 1 | DOID:0070546 | MONDO:equivalentTo | primary pigmented nodular adrenocortical disease 1 | | MONDO:0000426|MONDO:0015999 | +| MONDO:0971022 | primary pigmented nodular adrenocortical disease 2 | DOID:0070547 | MONDO:equivalentTo | primary pigmented nodular adrenocortical disease 2 | | MONDO:0000426|MONDO:0015999 | +| MONDO:0971023 | primary pigmented nodular adrenocortical disease 3 | DOID:0070548 | MONDO:equivalentTo | primary pigmented nodular adrenocortical disease 3 | | MONDO:0015999 | +| MONDO:0971024 | primary pigmented nodular adrenocortical disease 4 | DOID:0070549 | MONDO:equivalentTo | primary pigmented nodular adrenocortical disease 4 | | MONDO:0015999|MONDO:0000426 | +| MONDO:0971025 | krt1-related nonepidermolytic palmoplantar keratoderma | DOID:0070550 | MONDO:equivalentTo | KRT1-related nonepidermolytic palmoplantar keratoderma | | MONDO:0010962 | +| MONDO:0971026 | epidermolytic palmoplantar keratoderma 2 | DOID:0070551 | MONDO:equivalentTo | epidermolytic palmoplantar keratoderma 2 | | MONDO:0007758|MONDO:0000426 | +| MONDO:0971027 | epidermolytic palmoplantar keratoderma 1 | DOID:0070552 | MONDO:equivalentTo | epidermolytic palmoplantar keratoderma 1 | | MONDO:0007758|MONDO:0000426 | +| MONDO:0971028 | focal palmoplantar and gingival keratosis | DOID:0070553 | MONDO:equivalentTo | focal palmoplantar and gingival keratosis | | MONDO:0006590 | +| MONDO:0971029 | palmoplantar keratoderma and woolly hair | DOID:0070554 | MONDO:equivalentTo | palmoplantar keratoderma and woolly hair | | MONDO:0010962|MONDO:0006025 | +| MONDO:0971030 | nagashima-type palmoplantar keratosis | DOID:0070555 | MONDO:equivalentTo | Nagashima-type palmoplantar keratosis | | MONDO:0010962|MONDO:0006025 | +| MONDO:0971031 | auto-brewery syndrome | DOID:0081455 | MONDO:equivalentTo | auto-brewery syndrome | An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication. | MONDO:0006504 | +| MONDO:0971032 | bladder fermentation syndrome | DOID:0081456 | MONDO:equivalentTo | bladder fermentation syndrome | An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication. | MONDO:0006504 | +| MONDO:0971033 | intrathyroid thymic carcinoma | DOID:0081457 | MONDO:equivalentTo | intrathyroid thymic carcinoma | A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation. | MONDO:0015075 | +| MONDO:0971034 | thyroid gland cribriform morular carcinoma | DOID:0081458 | MONDO:equivalentTo | thyroid gland cribriform morular carcinoma | A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. | MONDO:0015075 | +| MONDO:0971035 | thyroid gland mixed medullary and follicular cell-derived carcinoma | DOID:0081459 | MONDO:equivalentTo | thyroid gland mixed medullary and follicular cell-derived carcinoma | A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin. | MONDO:0015075 | +| MONDO:0971036 | thyroid gland mucinous carcinoma | DOID:0081460 | MONDO:equivalentTo | thyroid gland mucinous carcinoma | A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition. | MONDO:0015075 | +| MONDO:0971037 | thyroid gland spindle epithelial tumor with thymus-like elements | DOID:0081461 | MONDO:equivalentTo | thyroid gland spindle epithelial tumor with thymus-like elements | A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. | MONDO:0015075 | \ No newline at end of file diff --git a/docs/reports/migrate_icd10cm.md b/docs/reports/migrate_icd10cm.md index c32d5cd7..7efe8005 100644 --- a/docs/reports/migrate_icd10cm.md +++ b/docs/reports/migrate_icd10cm.md @@ -1893,4 +1893,7 @@ | MONDO:0883530 | late pregnancy | ICD10CM:O48 | MONDO:equivalentTo | Late pregnancy | | | | MONDO:0883963 | disorders of muscle tone of newborn | ICD10CM:P94 | MONDO:equivalentTo | Disorders of muscle tone of newborn | | | | MONDO:0883968 | other conditions originating in the perinatal period | ICD10CM:P96 | MONDO:equivalentTo | Other conditions originating in the perinatal period | | | -| MONDO:0957527 | obstructive hypertrophic cardiomyopathy | ICD10CM:I42.1 | MONDO:equivalentTo | Obstructive hypertrophic cardiomyopathy | | MONDO:0004994 | \ No newline at end of file +| MONDO:0957527 | obstructive hypertrophic cardiomyopathy | ICD10CM:I42.1 | MONDO:equivalentTo | Obstructive hypertrophic cardiomyopathy | | MONDO:0004994 | +| MONDO:0971039 | besnier's prurigo | ICD10CM:L20.0 | MONDO:equivalentTo | Besnier's prurigo | | MONDO:0004980 | +| MONDO:0971040 | other atopic dermatitis | ICD10CM:L20.8 | MONDO:equivalentTo | Other atopic dermatitis | | MONDO:0004980 | +| MONDO:0971041 | atopic dermatitis, unspecified | ICD10CM:L20.9 | MONDO:equivalentTo | Atopic dermatitis, unspecified | | MONDO:0004980 | \ No newline at end of file diff --git a/docs/reports/migrate_omim.md b/docs/reports/migrate_omim.md index 9e7ada16..d9be8d19 100644 --- a/docs/reports/migrate_omim.md +++ b/docs/reports/migrate_omim.md @@ -2,6 +2,8 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/omim.tsv) ### Migratable terms -| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | -|:-----------|:--------------|:---------------------|:---------------------------|:-----------------|:--------------|:----------| -| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | \ No newline at end of file +| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | +|:--------------|:--------------------------------------------------------------------------------------------------------------|:---------------------|:---------------------------|:--------------------------------------------------------------------------------------------------------------|:--------------|:--------------| +| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | +| MONDO:0971043 | neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities | OMIM:620852 | MONDO:equivalentTo | neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities | | | +| MONDO:0971044 | ehlers-danlos syndrome, classic-like, 3 | OMIM:620865 | MONDO:equivalentTo | ehlers-danlos syndrome, classic-like, 3 | | MONDO:0020066 | \ No newline at end of file diff --git a/docs/reports/migrate_ordo.md b/docs/reports/migrate_ordo.md index b88ee864..7287ca1c 100644 --- a/docs/reports/migrate_ordo.md +++ b/docs/reports/migrate_ordo.md @@ -2,6 +2,108 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/ordo.tsv) ### Migratable terms -| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | subset | -|:-----------|:--------------|:---------------------|:---------------------------|:-----------------|:--------------|:----------|:---------| -| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | | \ No newline at end of file +| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | subset | +|:--------------|:----------------------------------------------------------------------------------------------------------------------|:---------------------|:---------------------------|:----------------------------------------------------------------------------------------------------------------------|:-------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------|:--------------------------------------------------------------------------------------------------|:----------------------| +| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | | +| MONDO:0971046 | behr syndrome | Orphanet:1239 | MONDO:equivalentTo | Behr syndrome | | MONDO:8000034|MONDO:0020225|MONDO:0016135|MONDO:0035862|MONDO:8000032 | disorder | +| MONDO:0971047 | prc-2 complex-related overgrowth spectrum | Orphanet:659387 | MONDO:equivalentTo | PRC-2 complex-related overgrowth spectrum | | MONDO:8000033|MONDO:0800091|MONDO:0015159|MONDO:0035863|MONDO:0019716 | group of disorders | +| MONDO:0971048 | facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome | Orphanet:659609 | MONDO:equivalentTo | Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome | | MONDO:8000034|MONDO:0000001|MONDO:0035863|MONDO:0015159|MONDO:0017120 | disorder | +| MONDO:0971049 | single isolated optic neuritis | Orphanet:659626 | MONDO:equivalentTo | Single isolated optic neuritis | | MONDO:8000031|MONDO:0044688 | subtype of a disorder | +| MONDO:0971050 | relapsing isolated optic neuritis | Orphanet:659634 | MONDO:equivalentTo | Relapsing isolated optic neuritis | | MONDO:8000031|MONDO:0044688 | subtype of a disorder | +| MONDO:0971051 | rauch-steindl syndrome | Orphanet:659642 | MONDO:equivalentTo | Rauch-Steindl syndrome | | MONDO:0015329|MONDO:0026187|MONDO:0017119|MONDO:8000031|MONDO:0015159|MONDO:0035863 | subtype of a disorder | +| MONDO:0971052 | erythropoietic porphyria | Orphanet:659681 | MONDO:equivalentTo | Erythropoietic porphyria | | MONDO:0019142|MONDO:8000033 | group of disorders | +| MONDO:0971053 | hepatic porphyria | Orphanet:659694 | MONDO:equivalentTo | Hepatic porphyria | | MONDO:0019142|MONDO:8000033|MONDO:0015115 | group of disorders | +| MONDO:0971054 | intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome | Orphanet:659702 | MONDO:equivalentTo | Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome | | MONDO:0015329|MONDO:0015159|MONDO:8000034|MONDO:0035863|MONDO:0026187|MONDO:8000032 | disorder | +| MONDO:0971055 | rare yersiniosis | Orphanet:659712 | MONDO:equivalentTo | Rare yersiniosis | | MONDO:8000033|MONDO:0015575 | group of disorders | +| MONDO:0971056 | ocular surface squamous neoplasia | Orphanet:659744 | MONDO:equivalentTo | Ocular surface squamous neoplasia | | MONDO:0000001|MONDO:8000034|MONDO:0015121 | disorder | +| MONDO:0971057 | oroya fever | Orphanet:659756 | MONDO:equivalentTo | Oroya fever | A rare bacterial infectious disease characterized by severe acute hemolytic anemia, fever, malaise, myalgia, headache, tachycardia, jaundice, and hepatomegaly occurring around 60 days after the bite of a sand fly infected with Bartonella bacilliformis. Complications are common and include secondary infections and cardiovascular and neurological problems. Fatality rates are high without antimicrobial intervention. | MONDO:0018984|MONDO:8000031 | subtype of a disorder | +| MONDO:0971058 | verruga peruana | Orphanet:659759 | MONDO:equivalentTo | Verruga peruana | A rare bacterial infectious disease characterized by development of endothelial cell-derived, blood-filled tumors on the surface of the skin during the chronic phase of infection with Bartonella bacilliformis. The lesions can persist for months to years and may cause pain and scarring due to ulceration. They are classified as miliary (multiple red papules of <3 mm in diameter), mular (blood-filled nodules), and diffuse (groups of subdermal nodules >5 mm in diameter). Eruptions may be accompanied by fever and malaise, lymphadenopathy, acute bone and joint pains, and headache. Fatality rates during this phase are low. | MONDO:0018984|MONDO:8000031 | subtype of a disorder | +| MONDO:0971059 | wormian bones-micrognathia-abnormal dentition-progeroid syndrome | Orphanet:659873 | MONDO:equivalentTo | Wormian bones-micrognathia-abnormal dentition-progeroid syndrome | | MONDO:0031689|MONDO:0015336|MONDO:0043008|MONDO:8000032|MONDO:0015161|MONDO:8000034|MONDO:0015333 | disorder | +| MONDO:0971060 | multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome | Orphanet:659904 | MONDO:equivalentTo | Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome | | MONDO:8000032|MONDO:8000034|MONDO:0035863|MONDO:0015159 | disorder | +| MONDO:0971061 | glanders | Orphanet:659908 | MONDO:equivalentTo | Glanders | | MONDO:8000034|MONDO:0015575|MONDO:0000001 | disorder | +| MONDO:0971062 | sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome | Orphanet:659975 | MONDO:equivalentTo | Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome | | MONDO:0035863|MONDO:0015159|MONDO:8000032|MONDO:0019589|MONDO:8000034 | disorder | +| MONDO:0971063 | developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome | Orphanet:660017 | MONDO:equivalentTo | Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome | | MONDO:0035862|MONDO:8000034|MONDO:0000001|MONDO:0018265 | disorder | +| MONDO:0971064 | orofacial clefting-cardiac anomalies-facial dysmorphism syndrome | Orphanet:660021 | MONDO:equivalentTo | Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome | | MONDO:0035863|MONDO:8000032|MONDO:0015335|MONDO:0015159|MONDO:8000034 | disorder | +| MONDO:0971065 | psittacosis | Orphanet:660053 | MONDO:equivalentTo | Psittacosis | | MONDO:0000001|MONDO:8000034|MONDO:0015575 | disorder | +| MONDO:0971066 | megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency | Orphanet:661412 | MONDO:equivalentTo | Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency | | MONDO:0018035|MONDO:8000034|MONDO:0020111|MONDO:0000001|MONDO:0017313 | disorder | +| MONDO:0971067 | mbd4-related tumor predisposition syndrome | Orphanet:661526 | MONDO:equivalentTo | MBD4-related tumor predisposition syndrome | | MONDO:8000034|MONDO:0015356|MONDO:0000001 | disorder | +| MONDO:0971068 | phelan-mcdermid syndrome due to 22q13.3 deletion | Orphanet:662169 | MONDO:equivalentTo | Phelan-McDermid syndrome due to 22q13.3 deletion | | MONDO:0022760|MONDO:0011652|MONDO:8000031 | subtype of a disorder | +| MONDO:0971069 | phelan-mcdermid syndrome due to shank3 mutation | Orphanet:662172 | MONDO:equivalentTo | Phelan-McDermid syndrome due to SHANK3 mutation | | MONDO:0011652|MONDO:8000031 | subtype of a disorder | +| MONDO:0971070 | macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome | Orphanet:662175 | MONDO:equivalentTo | Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome | | MONDO:0035863|MONDO:8000032|MONDO:0015159|MONDO:8000034 | disorder | +| MONDO:0971071 | microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome | Orphanet:662179 | MONDO:equivalentTo | Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome | | MONDO:0035863|MONDO:0015159|MONDO:0019589|MONDO:0017119|MONDO:8000032|MONDO:8000034 | disorder | +| MONDO:0971072 | congenital muscular dystrophy-cataract-intellectual disability syndrome | Orphanet:662184 | MONDO:equivalentTo | Congenital muscular dystrophy-cataract-intellectual disability syndrome | | MONDO:0000001|MONDO:0020225|MONDO:0035862|MONDO:0019950|MONDO:8000034 | disorder | +| MONDO:0971073 | neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome | Orphanet:662189 | MONDO:equivalentTo | Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome | | MONDO:8000032|MONDO:8000034|MONDO:0035863|MONDO:0017120|MONDO:0015159 | disorder | +| MONDO:0971074 | neurodevelopmental delay-intellectual disability-skeletal defects syndrome | Orphanet:662198 | MONDO:equivalentTo | Neurodevelopmental delay-intellectual disability-skeletal defects syndrome | | MONDO:8000034|MONDO:8000032|MONDO:0035863|MONDO:0015159 | disorder | +| MONDO:0971075 | neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome | Orphanet:662207 | MONDO:equivalentTo | Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome | | MONDO:8000034|MONDO:0035863|MONDO:0017120|MONDO:0015159|MONDO:8000032 | disorder | +| MONDO:0971076 | mucopolysaccharidosis type 10 | Orphanet:662216 | MONDO:equivalentTo | Mucopolysaccharidosis type 10 | | MONDO:0019058|MONDO:0000001|MONDO:0800088|MONDO:0035862|MONDO:0019249|MONDO:8000034 | disorder | +| MONDO:0971077 | episodic memory defect leukoencephalopathy | Orphanet:662229 | MONDO:equivalentTo | Episodic memory defect leukoencephalopathy | | MONDO:8000034|MONDO:0019046|MONDO:0000001 | disorder | +| MONDO:0971078 | neurodevelopmental delay-congenital heart defects-intellectual disability syndrome | Orphanet:662234 | MONDO:equivalentTo | Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome | | MONDO:0035863|MONDO:8000034|MONDO:0015159|MONDO:8000032 | disorder | +| MONDO:0971079 | frey syndrome | Orphanet:662240 | MONDO:equivalentTo | Frey syndrome | | MONDO:8000034|MONDO:0015923|MONDO:0032013 | disorder | +| MONDO:0971080 | grisel syndrome | Orphanet:662255 | MONDO:equivalentTo | Grisel syndrome | | MONDO:0032013|MONDO:8000034|MONDO:0016434 | disorder | +| MONDO:0971081 | nescav syndrome | Orphanet:662367 | MONDO:equivalentTo | NESCAV syndrome | | MONDO:0035862|MONDO:8000034|MONDO:0000001 | disorder | +| MONDO:0971082 | gastric duplication | Orphanet:662376 | MONDO:equivalentTo | Gastric duplication | | MONDO:8000034|MONDO:8000030|MONDO:0015209 | disorder | +| MONDO:0971083 | gallbladder duplication | Orphanet:662388 | MONDO:equivalentTo | Gallbladder duplication | | MONDO:0015213|MONDO:0015116|MONDO:8000034|MONDO:8000030 | disorder | +| MONDO:0971084 | colonic duplication | Orphanet:662392 | MONDO:equivalentTo | Colonic duplication | | MONDO:0015211|MONDO:8000030|MONDO:8000034 | disorder | +| MONDO:0971085 | pyloric duplication | Orphanet:662405 | MONDO:equivalentTo | Pyloric duplication | | MONDO:8000034|MONDO:8000030|MONDO:0015209 | disorder | +| MONDO:0971086 | small intestine duplication | Orphanet:662456 | MONDO:equivalentTo | Small intestine duplication | | MONDO:8000030|MONDO:0015211|MONDO:8000034 | disorder | +| MONDO:0971087 | placenta accreta spectrum disorder | Orphanet:662721 | MONDO:equivalentTo | Placenta accreta spectrum disorder | | MONDO:0000001|MONDO:0015582|MONDO:8000034 | disorder | +| MONDO:0971088 | motor delay-microcephaly-speech impairment-ocular abnormalities syndrome | Orphanet:662762 | MONDO:equivalentTo | Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome | | MONDO:8000032|MONDO:8000034|MONDO:0017119|MONDO:0035863|MONDO:0015159 | disorder | +| MONDO:0971089 | vasa previa | Orphanet:662786 | MONDO:equivalentTo | Vasa previa | | MONDO:0015582|MONDO:8000034|MONDO:0000001 | disorder | +| MONDO:0971090 | intellectual disability-speech delay-dysmorphic features-t cell abnormalities syndrome | Orphanet:662829 | MONDO:equivalentTo | Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome | | MONDO:0015159|MONDO:0035863|MONDO:0000001|MONDO:8000034 | disorder | +| MONDO:0971091 | acute megakaryoblastic leukemia in adult | Orphanet:662934 | MONDO:equivalentTo | Acute megakaryoblastic leukemia in adult | | MONDO:8000031|MONDO:0018872 | subtype of a disorder | +| MONDO:0971092 | soft and hard cleft palate | Orphanet:664372 | MONDO:equivalentTo | Soft and hard cleft palate | | MONDO:0016064|MONDO:8000034|MONDO:8000030 | disorder | +| MONDO:0971093 | mgp-related spondyloepiphyseal dysplasia | Orphanet:664377 | MONDO:equivalentTo | MGP-related spondyloepiphyseal dysplasia | | MONDO:0015329|MONDO:8000032|MONDO:0026187|MONDO:8000034 | disorder | +| MONDO:0971094 | cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation | Orphanet:664401 | MONDO:equivalentTo | Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation | | MONDO:8000031|MONDO:0016460 | subtype of a disorder | +| MONDO:0971095 | 6q25.1 microdeletion syndrome | Orphanet:664404 | MONDO:equivalentTo | 6q25.1 microdeletion syndrome | | MONDO:8000031|MONDO:0016905|MONDO:0016460 | subtype of a disorder | +| MONDO:0971096 | brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome | Orphanet:664410 | MONDO:equivalentTo | Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome | | MONDO:8000034|MONDO:0017120|MONDO:0035863|MONDO:8000032|MONDO:0015159 | disorder | +| MONDO:0971097 | neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome | Orphanet:664430 | MONDO:equivalentTo | Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome | | MONDO:8000032|MONDO:0035863|MONDO:0015159|MONDO:8000034 | disorder | +| MONDO:0971098 | gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome | Orphanet:664438 | MONDO:equivalentTo | Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome | | MONDO:0015506|MONDO:0015336|MONDO:0026190|MONDO:0035863|MONDO:0015159|MONDO:8000032|MONDO:8000034 | disorder | +| MONDO:0971099 | inherited cancer-predisposing lymphoproliferative syndrome | Orphanet:664450 | MONDO:equivalentTo | Inherited cancer-predisposing lymphoproliferative syndrome | | MONDO:8000033|MONDO:0015356 | group of disorders | +| MONDO:0971100 | immune dysregulation disease with immunodeficiency associated with ebv susceptibility | Orphanet:664456 | MONDO:equivalentTo | Immune dysregulation disease with immunodeficiency associated with EBV susceptibility | | MONDO:8000033|MONDO:0015710 | group of disorders | +| MONDO:0971101 | hermansky-pudlak syndrome due to ap3b1 deficiency | Orphanet:664500 | MONDO:equivalentTo | Hermansky-Pudlak syndrome due to AP3B1 deficiency | Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia. | MONDO:8000031|MONDO:0011997 | subtype of a disorder | +| MONDO:0971102 | early-onset severe hermansky-pudlak syndrome with hearing loss, due to ap3d1 deficiency | Orphanet:664511 | MONDO:equivalentTo | Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency | | MONDO:8000031|MONDO:0011997 | subtype of a disorder | +| MONDO:0971103 | nicolau syndrome | Orphanet:664787 | MONDO:equivalentTo | Nicolau syndrome | | MONDO:8000034|MONDO:0032013|MONDO:0019546 | disorder | +| MONDO:0971104 | trigeminal trophic syndrome | Orphanet:664901 | MONDO:equivalentTo | Trigeminal trophic syndrome | | MONDO:8000034|MONDO:0016374|MONDO:0000001|MONDO:0019546 | disorder | +| MONDO:0971105 | neonatal renal venous thrombosis | Orphanet:664912 | MONDO:equivalentTo | Neonatal renal venous thrombosis | | MONDO:8000034|MONDO:0000001|MONDO:0019750 | disorder | +| MONDO:0971106 | congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome | Orphanet:664923 | MONDO:equivalentTo | Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome | | MONDO:0015168|MONDO:0015159|MONDO:0035863|MONDO:0000001|MONDO:8000034|MONDO:0017119 | disorder | +| MONDO:0971107 | common arterial trunk with aortic dominance | Orphanet:665044 | MONDO:equivalentTo | Common arterial trunk with aortic dominance | | MONDO:8000031|MONDO:0018072 | subtype of a disorder | +| MONDO:0971108 | common arterial trunk with pulmonary dominance and interrupted aortic arch | Orphanet:665058 | MONDO:equivalentTo | Common arterial trunk with pulmonary dominance and interrupted aortic arch | | MONDO:8000031|MONDO:0018072 | subtype of a disorder | +| MONDO:0971109 | isolated congenital femoral bifurcation | Orphanet:667589 | MONDO:equivalentTo | Isolated congenital femoral bifurcation | | MONDO:8000034|MONDO:8000030|MONDO:0017420 | disorder | +| MONDO:0971110 | breast implant-associated anaplastic large cell lymphoma | Orphanet:667662 | MONDO:equivalentTo | Breast implant-associated anaplastic large cell lymphoma | | MONDO:0000001|MONDO:0015760|MONDO:8000034 | disorder | +| MONDO:0971111 | intraoral basal cell carcinoma | Orphanet:667678 | MONDO:equivalentTo | Intraoral basal cell carcinoma | | MONDO:0000001|MONDO:0017797|MONDO:8000034 | disorder | +| MONDO:0971112 | craniosynostosis-facial dysmorphism-brachydactyly syndrome | Orphanet:672979 | MONDO:equivalentTo | Craniosynostosis-facial dysmorphism-brachydactyly syndrome | | MONDO:8000032|MONDO:0015338|MONDO:8000034 | disorder | +| MONDO:0971113 | craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome | Orphanet:672985 | MONDO:equivalentTo | Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome | | MONDO:0015338|MONDO:8000032|MONDO:8000034 | disorder | +| MONDO:0971114 | malignant vascular tumor | Orphanet:673466 | MONDO:equivalentTo | Malignant vascular tumor | | MONDO:8000033|MONDO:0016228 | group of disorders | +| MONDO:0971115 | benign vascular tumor | Orphanet:673470 | MONDO:equivalentTo | Benign vascular tumor | | MONDO:8000033|MONDO:0016228 | group of disorders | +| MONDO:0971116 | borderline vascular tumor | Orphanet:673473 | MONDO:equivalentTo | Borderline vascular tumor | | MONDO:8000033|MONDO:0016228 | group of disorders | +| MONDO:0971117 | classic pilocytic astrocytoma | Orphanet:673580 | MONDO:equivalentTo | Classic pilocytic astrocytoma | | MONDO:8000031|MONDO:0016691 | subtype of a disorder | +| MONDO:0971118 | pilocytic astrocytoma with histological features of anaplasia | Orphanet:673585 | MONDO:equivalentTo | Pilocytic astrocytoma with histological features of anaplasia | | MONDO:8000031|MONDO:0016691 | subtype of a disorder | +| MONDO:0971119 | proteoglycan-related bone disorder | Orphanet:674499 | MONDO:equivalentTo | Proteoglycan-related bone disorder | | MONDO:8000033|MONDO:0031799 | group of disorders | +| MONDO:0971120 | syndrome with congenital phagocyte functional defect as a major feature | Orphanet:674648 | MONDO:equivalentTo | Syndrome with congenital phagocyte functional defect as a major feature | | MONDO:8000033|MONDO:0015978 | group of disorders | +| MONDO:0971121 | early-onset autoinflammatory syndrome due to a20 haploinsufficiency | Orphanet:674762 | MONDO:equivalentTo | Early-onset autoinflammatory syndrome due to A20 haploinsufficiency | | MONDO:0000001|MONDO:0017957|MONDO:8000034|MONDO:0017370|MONDO:0017369 | disorder | +| MONDO:0971122 | non-syndromic congenital phagocyte functional defect | Orphanet:674896 | MONDO:equivalentTo | Non-syndromic congenital phagocyte functional defect | | MONDO:8000033|MONDO:0015978 | group of disorders | +| MONDO:0971123 | isolated retinal racemose hemangioma | Orphanet:674924 | MONDO:equivalentTo | Isolated retinal racemose hemangioma | | MONDO:8000034|MONDO:0000001 | disorder | +| MONDO:0971124 | perifoveal exudative vascular anomalous complex | Orphanet:674930 | MONDO:equivalentTo | Perifoveal exudative vascular anomalous complex | | MONDO:8000034|MONDO:0000001 | disorder | +| MONDO:0971125 | torpedo maculopathy | Orphanet:674935 | MONDO:equivalentTo | Torpedo Maculopathy | | MONDO:0000001|MONDO:8000034 | disorder | +| MONDO:0971126 | isolated angioid streaks | Orphanet:674943 | MONDO:equivalentTo | Isolated angioid streaks | | MONDO:8000034|MONDO:0000001 | disorder | +| MONDO:0971127 | diffuse unilateral subacute neuroretinitis | Orphanet:674947 | MONDO:equivalentTo | Diffuse unilateral subacute neuroretinitis | | MONDO:0015577|MONDO:0000001|MONDO:8000034 | disorder | +| MONDO:0971128 | multiple evanescent white dot syndrome | Orphanet:674953 | MONDO:equivalentTo | Multiple evanescent white dot syndrome | | MONDO:8000034|MONDO:0000001 | disorder | +| MONDO:0971129 | stellate multiform amelanotic choroidopathy | Orphanet:674958 | MONDO:equivalentTo | Stellate multiform amelanotic choroidopathy | | MONDO:8000034|MONDO:0000001 | disorder | +| MONDO:0971130 | choroidal osteoma | Orphanet:674965 | MONDO:equivalentTo | Choroidal osteoma | | MONDO:8000034|MONDO:0000001|MONDO:0015121 | disorder | +| MONDO:0971131 | bilateral diffuse uveal melanocytic proliferation disease | Orphanet:674968 | MONDO:equivalentTo | Bilateral diffuse uveal melanocytic proliferation disease | | MONDO:8000034|MONDO:0000001 | disorder | +| MONDO:0971132 | spinocerebellar ataxia type 27b | Orphanet:675216 | MONDO:equivalentTo | Spinocerebellar ataxia type 27B | | MONDO:0019792|MONDO:8000034|MONDO:0000001 | disorder | +| MONDO:0971133 | isolated segmental infantile hemangioma | Orphanet:675380 | MONDO:equivalentTo | Isolated segmental infantile hemangioma | | MONDO:8000034|MONDO:0000001|MONDO:0016223 | disorder | +| MONDO:0971134 | may-thurner syndrome | Orphanet:675404 | MONDO:equivalentTo | May-Thurner syndrome | | MONDO:8000034|MONDO:0024471|MONDO:0000001 | disorder | +| MONDO:0971135 | tlr8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome | Orphanet:675628 | MONDO:equivalentTo | TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome | | MONDO:8000034|MONDO:0000001|MONDO:0018032|MONDO:0020083 | disorder | +| MONDO:0971136 | severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to srp54 deficiency | Orphanet:675767 | MONDO:equivalentTo | Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency | | MONDO:0035862|MONDO:0018032|MONDO:8000034|MONDO:0000001 | disorder | +| MONDO:0971137 | severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome | Orphanet:675775 | MONDO:equivalentTo | Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome | | MONDO:0015159|MONDO:0016404|MONDO:0035863|MONDO:0020076|MONDO:0000001|MONDO:8000034 | disorder | +| MONDO:0971138 | progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to fyve-defective rbsn | Orphanet:675782 | MONDO:equivalentTo | Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN | | MONDO:8000034|MONDO:0017739|MONDO:0035863|MONDO:0000001|MONDO:0015159 | disorder | +| MONDO:0971139 | adenomatoid tumour of the pleura | Orphanet:675814 | MONDO:equivalentTo | Adenomatoid tumour of the pleura | | MONDO:8000034|MONDO:0000001|MONDO:0015119 | disorder | +| MONDO:0971140 | well-differentiated papillary mesothelial tumour of the pleura | Orphanet:675822 | MONDO:equivalentTo | Well-differentiated papillary mesothelial tumour of the pleura | | MONDO:8000034|MONDO:0000001|MONDO:0015119 | disorder | +| MONDO:0971141 | localized pleural mesothelioma | Orphanet:675833 | MONDO:equivalentTo | Localized pleural mesothelioma | | MONDO:8000031|MONDO:0006292 | subtype of a disorder | +| MONDO:0971142 | diffused pleural mesothelioma | Orphanet:675837 | MONDO:equivalentTo | Diffused pleural mesothelioma | | MONDO:8000031|MONDO:0006292 | subtype of a disorder | +| MONDO:0971143 | pleural mesothelioma in situ | Orphanet:675841 | MONDO:equivalentTo | Pleural mesothelioma in situ | | MONDO:8000031|MONDO:0006292 | subtype of a disorder | +| MONDO:0971144 | primary benign peritoneal tumor | Orphanet:676030 | MONDO:equivalentTo | Primary benign peritoneal tumor | | MONDO:8000033|MONDO:0015682 | group of disorders | +| MONDO:0971145 | peritoneal mesothelioma in situ | Orphanet:676036 | MONDO:equivalentTo | Peritoneal mesothelioma in situ | | MONDO:8000034|MONDO:0000001|MONDO:0015683 | disorder | +| MONDO:0971146 | combined immunodeficiency due to foxn1 haploinsufficiency | Orphanet:676039 | MONDO:equivalentTo | Combined immunodeficiency due to FOXN1 haploinsufficiency | | MONDO:8000034|MONDO:0018814|MONDO:0000001 | disorder | +| MONDO:0971147 | x-linked immune dysregulation with inflammatory bowel disease due to elf4 deficiency | Orphanet:676125 | MONDO:equivalentTo | X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency | | MONDO:8000034|MONDO:0017957|MONDO:0000001|MONDO:0033967 | disorder | \ No newline at end of file diff --git a/docs/reports/unmapped.md b/docs/reports/unmapped.md index d6086dc2..dc20cf9e 100644 --- a/docs/reports/unmapped.md +++ b/docs/reports/unmapped.md @@ -2,13 +2,13 @@ | Ontology | Tot terms | Tot excluded | Tot deprecated | Tot deprecated unmapped | Tot mappable _(!excluded, !deprecated)_ | Tot mapped _(mappable)_ | Tot unmapped _(mappable)_ | % unmapped _(mappable)_ | |:-------------------------------------------------|:------------|:---------------|:-----------------|:--------------------------|:------------------------------------------|:--------------------------|:----------------------------|:--------------------------| | [ICD10WHO](./unmapped_icd10who.md) | 12,542 | 0 | 0 | 0 | 12,542 | 18 | 12,524 | 99.9% | -| [ICD10CM](./unmapped_icd10cm.md) | 95,847 | 15,452 | 0 | 0 | 80,395 | 1,162 | 79,233 | 98.6% | +| [ICD10CM](./unmapped_icd10cm.md) | 95,847 | 15,452 | 0 | 0 | 80,395 | 1,163 | 79,232 | 98.6% | | [NCIT](./unmapped_ncit.md) | 191,123 | 169,937 | 5,221 | 5,199 | 15,965 | 3,675 | 12,290 | 77.0% | +| [ORDO](./unmapped_ordo.md) | 15,561 | 6,270 | 1,424 | 1,164 | 9,291 | 9,108 | 183 | 2.0% | | [ICD11FOUNDATION](./unmapped_icd11foundation.md) | 100,382 | 30,335 | 6,587 | 6,587 | 64,451 | 0 | 64,451 | 100.0% | | [GARD](./unmapped_gard.md) | 12,004 | 0 | 0 | 0 | 12,004 | 0 | 12,004 | 100.0% | -| [ORDO](./unmapped_ordo.md) | 15,402 | 6,212 | 1,391 | 1,165 | 9,190 | 9,137 | 53 | 0.6% | -| [DOID](./unmapped_doid.md) | 14,058 | 2,655 | 2,483 | 2,468 | 11,401 | 11,367 | 34 | 0.3% | -| [OMIM](./unmapped_omim.md) | 29,362 | 19,260 | 1,364 | 1,318 | 8,739 | 8,739 | 0 | 0.0% | +| [DOID](./unmapped_doid.md) | 14,082 | 2,656 | 2,484 | 2,468 | 11,424 | 11,391 | 33 | 0.3% | +| [OMIM](./unmapped_omim.md) | 29,382 | 19,278 | 1,364 | 1,318 | 8,741 | 8,739 | 2 | 0.0% | `Ontology`: Name of ontology `Tot terms`: Total terms in ontology diff --git a/docs/reports/unmapped_doid.md b/docs/reports/unmapped_doid.md index 6397b37d..1a414175 100644 --- a/docs/reports/unmapped_doid.md +++ b/docs/reports/unmapped_doid.md @@ -2,39 +2,38 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/doid_mapping_status.tsv) ### Unmapped mappable terms _(!excluded, !deprecated)_ -| subject_id | subject_label | -|:-------------|:-------------------------------------------------------------------------------------| -| DOID:0070541 | 3-hydroxy-3-methylglutaryl-CoA lyase deficiency | -| DOID:0060949 | 3-hydroxyisobutryl-CoA hydrolase deficiency | -| DOID:0060970 | Cornelia de Lange syndrome 6 | -| DOID:0081453 | Dent disease 1 | -| DOID:0081454 | Dent disease 2 | -| DOID:0060954 | Holoprosencephaly 13, X-linked | -| DOID:0060964 | Loeys-Dietz syndrome 6 | -| DOID:0060948 | Ullrich congenital muscular dystrophy 2 | -| DOID:0060953 | ZTTK syndrome | -| DOID:2934 | aleutian mink disease | -| DOID:5154 | borna disease | -| DOID:0060160 | childhood spinal muscular atrophy | -| DOID:0111368 | cholesterol-ester transfer protein deficiency | -| DOID:2536 | chronic inflammatory demyelinating polyneuritis | -| DOID:0070544 | congenital glutamine deficiency | -| DOID:4668 | congenital kyphosis | -| DOID:0070545 | developmental and epileptic encephalopathy 116 | -| DOID:0060965 | episodic ataxia type 9 | -| DOID:0060969 | galactosemia 4 | -| DOID:0060950 | hypervalinemia and hyperleucine-isoleucinemia | -| DOID:0060968 | hypotrichosis 15 | -| DOID:0060333 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | -| DOID:0070540 | mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | -| DOID:0070543 | neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities | -| DOID:0070542 | neurodevelopmental disorder with spastic paraplegia and microcephaly | -| DOID:0060959 | orofaciodigital syndrome II | -| DOID:0060958 | orofaciodigital syndrome XIV | -| DOID:0060960 | orofaciodigital syndrome XIX | -| DOID:0060961 | orofaciodigital syndrome XVIII | -| DOID:0060962 | orofaciodigital syndrome XX | -| DOID:146 | papilledema | -| DOID:0060951 | polycystic kidney disease 6 | -| DOID:0060952 | polycystic kidney disease 7 | -| DOID:9373 | postural kyphosis | \ No newline at end of file +| subject_id | subject_label | +|:-------------|:--------------------------------------------------------------------| +| DOID:0070550 | KRT1-related nonepidermolytic palmoplantar keratoderma | +| DOID:0070555 | Nagashima-type palmoplantar keratosis | +| DOID:0060973 | WHIM syndrome 2 | +| DOID:2934 | aleutian mink disease | +| DOID:0081455 | auto-brewery syndrome | +| DOID:0060974 | autosomal recessive Robinow syndrome 2 | +| DOID:0081456 | bladder fermentation syndrome | +| DOID:5154 | borna disease | +| DOID:0060160 | childhood spinal muscular atrophy | +| DOID:0111368 | cholesterol-ester transfer protein deficiency | +| DOID:2536 | chronic inflammatory demyelinating polyneuritis | +| DOID:4668 | congenital kyphosis | +| DOID:0070552 | epidermolytic palmoplantar keratoderma 1 | +| DOID:0070551 | epidermolytic palmoplantar keratoderma 2 | +| DOID:0070553 | focal palmoplantar and gingival keratosis | +| DOID:0060971 | interstitial lung disease 2 | +| DOID:0081457 | intrathyroid thymic carcinoma | +| DOID:0060333 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | +| DOID:0070554 | palmoplantar keratoderma and woolly hair | +| DOID:146 | papilledema | +| DOID:0060975 | polycystic liver disease 2 | +| DOID:0060976 | polycystic liver disease 3 with or without kidney cysts | +| DOID:0060977 | polycystic liver disease 4 with or without kidney cysts | +| DOID:9373 | postural kyphosis | +| DOID:0070546 | primary pigmented nodular adrenocortical disease 1 | +| DOID:0070547 | primary pigmented nodular adrenocortical disease 2 | +| DOID:0070548 | primary pigmented nodular adrenocortical disease 3 | +| DOID:0070549 | primary pigmented nodular adrenocortical disease 4 | +| DOID:0060972 | renal hypomagnesemia 7, with or without dilated cardiomyopathy | +| DOID:0081458 | thyroid gland cribriform morular carcinoma | +| DOID:0081459 | thyroid gland mixed medullary and follicular cell-derived carcinoma | +| DOID:0081460 | thyroid gland mucinous carcinoma | +| DOID:0081461 | thyroid gland spindle epithelial tumor with thymus-like elements | \ No newline at end of file diff --git a/docs/reports/unmapped_icd10cm.md b/docs/reports/unmapped_icd10cm.md index a88fe1c3..efdcf83d 100644 --- a/docs/reports/unmapped_icd10cm.md +++ b/docs/reports/unmapped_icd10cm.md @@ -3627,7 +3627,6 @@ | ICD10CM:I25.119 | Atherosclerotic heart disease of native coronary artery with unspecified angina pectoris | | ICD10CM:I25.110 | Atherosclerotic heart disease of native coronary artery with unstable angina pectoris | | ICD10CM:I25.10 | Atherosclerotic heart disease of native coronary artery without angina pectoris | -| ICD10CM:L20 | Atopic dermatitis | | ICD10CM:L20.9 | Atopic dermatitis, unspecified | | ICD10CM:L20.81 | Atopic neurodermatitis | | ICD10CM:Q44.2 | Atresia of bile ducts | diff --git a/docs/reports/unmapped_omim.md b/docs/reports/unmapped_omim.md index e80e4c1c..b2f17398 100644 --- a/docs/reports/unmapped_omim.md +++ b/docs/reports/unmapped_omim.md @@ -2,5 +2,7 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/omim_mapping_status.tsv) ### Unmapped mappable terms _(!excluded, !deprecated)_ -| subject_id | subject_label | -|--------------|-----------------| \ No newline at end of file +| subject_id | subject_label | +|:-------------|:--------------------------------------------------------------------------------------------------------------| +| OMIM:620865 | ehlers-danlos syndrome, classic-like, 3 | +| OMIM:620852 | neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities | \ No newline at end of file diff --git a/docs/reports/unmapped_ordo.md b/docs/reports/unmapped_ordo.md index e444c82a..4bdc846f 100644 --- a/docs/reports/unmapped_ordo.md +++ b/docs/reports/unmapped_ordo.md @@ -2,58 +2,188 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/ordo_mapping_status.tsv) ### Unmapped mappable terms _(!excluded, !deprecated)_ -| subject_id | subject_label | -|:----------------|:--------------------------------------| -| Orphanet:409975 | 1-5 / 10 000 | -| Orphanet:409976 | 1-9 / 1 000 000 | -| Orphanet:409977 | 1-9 / 100 000 | -| Orphanet:409978 | 6-9 / 10 000 | -| Orphanet:409979 | <1 / 1 000 000 | -| Orphanet:409980 | >1 / 1000 | -| Orphanet:409981 | Unknown_epidemiological_range | -| Orphanet:409934 | X-linked dominant | -| Orphanet:409932 | X-linked recessive | -| Orphanet:409938 | Y-linked | -| Orphanet:409947 | adolescent | -| Orphanet:409948 | adult | -| Orphanet:C023 | age of onset | -| Orphanet:409950 | all ages | -| Orphanet:409967 | annual incidence | -| Orphanet:409943 | antenatal | -| Orphanet:409929 | autosomal dominant | -| Orphanet:409930 | autosomal recessive | -| Orphanet:409968 | birth prevalence | -| Orphanet:409973 | case | -| Orphanet:409970 | cases/families | -| Orphanet:557495 | category | -| Orphanet:409946 | childhood | -| Orphanet:377794 | clinical group | -| Orphanet:377796 | clinical subtype | -| Orphanet:409949 | elderly | -| Orphanet:C003 | epidemiology | -| Orphanet:377795 | etiological subtype | -| Orphanet:409974 | family | -| Orphanet:C009 | geography | -| Orphanet:C032 | has_annual_incidence_average_value | -| Orphanet:C020 | has_annual_incidence_range | -| Orphanet:C029 | has_birth_prevalence_average_value | -| Orphanet:C026 | has_birth_prevalence_range | -| Orphanet:C024 | has_cases/families_value | -| Orphanet:C030 | has_lifetime_prevalence_average_value | -| Orphanet:C027 | has_lifetime_prevalence_range | -| Orphanet:C028 | has_point_prevalence_average_value | -| Orphanet:C025 | has_point_prevalence_range | -| Orphanet:377797 | histopathological subtype | -| Orphanet:409945 | infancy | -| Orphanet:C005 | inheritance | -| Orphanet:409969 | lifetime prevalence | -| Orphanet:409933 | mitochondrial | -| Orphanet:409931 | multigenic/multifactorial | -| Orphanet:409944 | neonatal | -| Orphanet:409951 | no age of onset data available | -| Orphanet:409940 | no inheritance data available | -| Orphanet:409936 | oligogenic | -| Orphanet:409966 | point prevalence | -| Orphanet:C004 | prevalence | -| Orphanet:409937 | semi-dominant | -| Orphanet:409939 | unknown inheritance | \ No newline at end of file +| subject_id | subject_label | +|:----------------|:-------------------------------------------------------------------------------------------------------------------------| +| Orphanet:409975 | 1-5 / 10 000 | +| Orphanet:409976 | 1-9 / 1 000 000 | +| Orphanet:409977 | 1-9 / 100 000 | +| Orphanet:409978 | 6-9 / 10 000 | +| Orphanet:664404 | 6q25.1 microdeletion syndrome | +| Orphanet:409979 | <1 / 1 000 000 | +| Orphanet:409980 | >1 / 1000 | +| Orphanet:675597 | Acquired elastotic haemangioma | +| Orphanet:674653 | Actinomyopathy-associated syndromic thrombocytopenia | +| Orphanet:662934 | Acute megakaryoblastic leukemia in adult | +| Orphanet:675976 | Adenomatoid tumour of the peritoneum | +| Orphanet:675814 | Adenomatoid tumour of the pleura | +| Orphanet:675359 | Anastomosing haemangioma | +| Orphanet:1239 | Behr syndrome | +| Orphanet:673470 | Benign vascular tumor | +| Orphanet:674968 | Bilateral diffuse uveal melanocytic proliferation disease | +| Orphanet:673473 | Borderline vascular tumor | +| Orphanet:664410 | Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome | +| Orphanet:664416 | Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation | +| Orphanet:667662 | Breast implant-associated anaplastic large cell lymphoma | +| Orphanet:664401 | Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation | +| Orphanet:674965 | Choroidal osteoma | +| Orphanet:673580 | Classic pilocytic astrocytoma | +| Orphanet:659396 | Cohen-Gibson syndrome | +| Orphanet:662392 | Colonic duplication | +| Orphanet:676039 | Combined immunodeficiency due to FOXN1 haploinsufficiency | +| Orphanet:665044 | Common arterial trunk with aortic dominance | +| Orphanet:665058 | Common arterial trunk with pulmonary dominance and interrupted aortic arch | +| Orphanet:664923 | Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome | +| Orphanet:662184 | Congenital muscular dystrophy-cataract-intellectual disability syndrome | +| Orphanet:672979 | Craniosynostosis-facial dysmorphism-brachydactyly syndrome | +| Orphanet:672985 | Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome | +| Orphanet:660017 | Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome | +| Orphanet:660012 | Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation | +| Orphanet:674947 | Diffuse unilateral subacute neuroretinitis | +| Orphanet:675837 | Diffused pleural mesothelioma | +| Orphanet:662473 | Duodenal duplication | +| Orphanet:664734 | EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature | +| Orphanet:664726 | EBV-induced lymphoproliferative disease due to CD137 deficiency | +| Orphanet:664711 | EBV-induced lymphoproliferative disease due to PRKCD deficiency | +| Orphanet:664699 | EBV-induced lymphoproliferative disease due to RASGRP1 deficiency | +| Orphanet:664729 | EBV-induced lymphoproliferative disease due to TET2 deficiency | +| Orphanet:674762 | Early-onset autoinflammatory syndrome due to A20 haploinsufficiency | +| Orphanet:664511 | Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency | +| Orphanet:673568 | Eccrine angiomatous hamartoma | +| Orphanet:662229 | Episodic memory defect leukoencephalopathy | +| Orphanet:675396 | Epithelioid hemangioma | +| Orphanet:659681 | Erythropoietic porphyria | +| Orphanet:659609 | Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome | +| Orphanet:662240 | Frey syndrome | +| Orphanet:662388 | Gallbladder duplication | +| Orphanet:662376 | Gastric duplication | +| Orphanet:664438 | Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome | +| Orphanet:659908 | Glanders | +| Orphanet:662255 | Grisel syndrome | +| Orphanet:659672 | Harderoporphyria | +| Orphanet:659698 | Hepatic cutaneous porphyria | +| Orphanet:659694 | Hepatic porphyria | +| Orphanet:664500 | Hermansky-Pudlak syndrome due to AP3B1 deficiency | +| Orphanet:675362 | Hobnail hemangioma | +| Orphanet:659463 | Imagawa-Matsumoto syndrome | +| Orphanet:664456 | Immune dysregulation disease with immunodeficiency associated with EBV susceptibility | +| Orphanet:664450 | Inherited cancer-predisposing lymphoproliferative syndrome | +| Orphanet:662829 | Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome | +| Orphanet:667678 | Intraoral basal cell carcinoma | +| Orphanet:659702 | Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome | +| Orphanet:673525 | Intravascular papillary endothelial hyperplasia | +| Orphanet:674943 | Isolated angioid streaks | +| Orphanet:667589 | Isolated congenital femoral bifurcation | +| Orphanet:674924 | Isolated retinal racemose hemangioma | +| Orphanet:675380 | Isolated segmental infantile hemangioma | +| Orphanet:662480 | Jujeno-ileal duplication | +| Orphanet:673538 | Littoral cell hemangioma of the spleen | +| Orphanet:675833 | Localized pleural mesothelioma | +| Orphanet:661526 | MBD4-related tumor predisposition syndrome | +| Orphanet:664377 | MGP-related spondyloepiphyseal dysplasia | +| Orphanet:662175 | Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome | +| Orphanet:673466 | Malignant vascular tumor | +| Orphanet:675404 | May-Thurner syndrome | +| Orphanet:661412 | Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency | +| Orphanet:662179 | Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome | +| Orphanet:675369 | Microvenular haemangioma | +| Orphanet:662762 | Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome | +| Orphanet:662216 | Mucopolysaccharidosis type 10 | +| Orphanet:659904 | Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome | +| Orphanet:674953 | Multiple evanescent white dot syndrome | +| Orphanet:662367 | NESCAV syndrome | +| Orphanet:664912 | Neonatal renal venous thrombosis | +| Orphanet:662207 | Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome | +| Orphanet:662234 | Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome | +| Orphanet:662198 | Neurodevelopmental delay-intellectual disability-skeletal defects syndrome | +| Orphanet:662189 | Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome | +| Orphanet:664430 | Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome | +| Orphanet:664787 | Nicolau syndrome | +| Orphanet:674896 | Non-syndromic congenital phagocyte functional defect | +| Orphanet:659744 | Ocular surface squamous neoplasia | +| Orphanet:660021 | Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome | +| Orphanet:659756 | Oroya fever | +| Orphanet:659387 | PRC-2 complex-related overgrowth spectrum | +| Orphanet:673543 | Papillary hemangioma | +| Orphanet:674930 | Perifoveal exudative vascular anomalous complex | +| Orphanet:676036 | Peritoneal mesothelioma in situ | +| Orphanet:662169 | Phelan-McDermid syndrome due to 22q13.3 deletion | +| Orphanet:662172 | Phelan-McDermid syndrome due to SHANK3 mutation | +| Orphanet:673585 | Pilocytic astrocytoma with histological features of anaplasia | +| Orphanet:662721 | Placenta accreta spectrum disorder | +| Orphanet:675841 | Pleural mesothelioma in situ | +| Orphanet:676030 | Primary benign peritoneal tumor | +| Orphanet:675782 | Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN | +| Orphanet:674499 | Proteoglycan-related bone disorder | +| Orphanet:673556 | Pseudomyogenic hemangioendothelioma | +| Orphanet:660053 | Psittacosis | +| Orphanet:662405 | Pyloric duplication | +| Orphanet:659712 | Rare yersiniosis | +| Orphanet:659642 | Rauch-Steindl syndrome | +| Orphanet:673574 | Reactive angioendotheliomatosis | +| Orphanet:659634 | Relapsing isolated optic neuritis | +| Orphanet:659975 | Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome | +| Orphanet:675775 | Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome | +| Orphanet:675767 | Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency | +| Orphanet:659626 | Single isolated optic neuritis | +| Orphanet:662456 | Small intestine duplication | +| Orphanet:664372 | Soft and hard cleft palate | +| Orphanet:675216 | Spinocerebellar ataxia type 27B | +| Orphanet:674958 | Stellate multiform amelanotic choroidopathy | +| Orphanet:674648 | Syndrome with congenital phagocyte functional defect as a major feature | +| Orphanet:675628 | TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome | +| Orphanet:674935 | Torpedo Maculopathy | +| Orphanet:664901 | Trigeminal trophic syndrome | +| Orphanet:409981 | Unknown_epidemiological_range | +| Orphanet:662786 | Vasa previa | +| Orphanet:659759 | Verruga peruana | +| Orphanet:676033 | Well-differentiated papillary mesothelial tumour of the peritoneum | +| Orphanet:675822 | Well-differentiated papillary mesothelial tumour of the pleura | +| Orphanet:659873 | Wormian bones-micrognathia-abnormal dentition-progeroid syndrome | +| Orphanet:409934 | X-linked dominant | +| Orphanet:676125 | X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency | +| Orphanet:409932 | X-linked recessive | +| Orphanet:409938 | Y-linked | +| Orphanet:659707 | Yersinia pseudotuberculosis infection | +| Orphanet:409947 | adolescent | +| Orphanet:409948 | adult | +| Orphanet:C023 | age of onset | +| Orphanet:409950 | all ages | +| Orphanet:409967 | annual incidence | +| Orphanet:409943 | antenatal | +| Orphanet:409929 | autosomal dominant | +| Orphanet:409930 | autosomal recessive | +| Orphanet:409968 | birth prevalence | +| Orphanet:409973 | case | +| Orphanet:409970 | cases/families | +| Orphanet:557495 | category | +| Orphanet:409946 | childhood | +| Orphanet:377794 | clinical group | +| Orphanet:377796 | clinical subtype | +| Orphanet:409949 | elderly | +| Orphanet:C003 | epidemiology | +| Orphanet:377795 | etiological subtype | +| Orphanet:409974 | family | +| Orphanet:C009 | geography | +| Orphanet:C032 | has_annual_incidence_average_value | +| Orphanet:C020 | has_annual_incidence_range | +| Orphanet:C029 | has_birth_prevalence_average_value | +| Orphanet:C026 | has_birth_prevalence_range | +| Orphanet:C024 | has_cases/families_value | +| Orphanet:C030 | has_lifetime_prevalence_average_value | +| Orphanet:C027 | has_lifetime_prevalence_range | +| Orphanet:C028 | has_point_prevalence_average_value | +| Orphanet:C025 | has_point_prevalence_range | +| Orphanet:377797 | histopathological subtype | +| Orphanet:409945 | infancy | +| Orphanet:C005 | inheritance | +| Orphanet:409969 | lifetime prevalence | +| Orphanet:409933 | mitochondrial | +| Orphanet:409931 | multigenic/multifactorial | +| Orphanet:409944 | neonatal | +| Orphanet:409951 | no age of onset data available | +| Orphanet:409940 | no inheritance data available | +| Orphanet:409936 | oligogenic | +| Orphanet:409966 | point prevalence | +| Orphanet:C004 | prevalence | +| Orphanet:409937 | semi-dominant | +| Orphanet:409939 | unknown inheritance | \ No newline at end of file diff --git a/src/mappings/doid.sssom.tsv b/src/mappings/doid.sssom.tsv index 3fe3b369..f2c9ee33 100644 --- a/src/mappings/doid.sssom.tsv +++ b/src/mappings/doid.sssom.tsv @@ -159,15 +159,13 @@ DOID:0050148 laryngotracheitis oboInOwl:hasDbXref UMLS:C0155837 semapv:Unspecifi DOID:0050152 aspiration pneumonia oboInOwl:hasDbXref ICD10CM:J69.0 semapv:UnspecifiedMatching DOID:0050152 aspiration pneumonia oboInOwl:hasDbXref MESH:D011015 semapv:UnspecifiedMatching DOID:0050152 aspiration pneumonia oboInOwl:hasDbXref UMLS:C0032290 semapv:UnspecifiedMatching -DOID:0050156 interstitial lung disease 2 oboInOwl:hasDbXref EFO:0000768 semapv:UnspecifiedMatching -DOID:0050156 interstitial lung disease 2 oboInOwl:hasDbXref GARD:8609 semapv:UnspecifiedMatching -DOID:0050156 interstitial lung disease 2 oboInOwl:hasDbXref ICD10CM:J84.112 semapv:UnspecifiedMatching -DOID:0050156 interstitial lung disease 2 oboInOwl:hasDbXref ICD9CM:516.31 semapv:UnspecifiedMatching -DOID:0050156 interstitial lung disease 2 oboInOwl:hasDbXref MESH:D054990 semapv:UnspecifiedMatching -DOID:0050156 interstitial lung disease 2 oboInOwl:hasDbXref NCI:C35716 semapv:UnspecifiedMatching -DOID:0050156 interstitial lung disease 2 oboInOwl:hasDbXref OMIM:178500 semapv:UnspecifiedMatching -DOID:0050156 interstitial lung disease 2 oboInOwl:hasDbXref UMLS:C1800706 semapv:UnspecifiedMatching -DOID:0050156 interstitial lung disease 2 skos:exactMatch OMIM:178500 semapv:UnspecifiedMatching +DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref EFO:0000768 semapv:UnspecifiedMatching +DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref GARD:8609 semapv:UnspecifiedMatching +DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref ICD10CM:J84.112 semapv:UnspecifiedMatching +DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref ICD9CM:516.31 semapv:UnspecifiedMatching +DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref MESH:D054990 semapv:UnspecifiedMatching +DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref NCI:C35716 semapv:UnspecifiedMatching +DOID:0050156 idiopathic pulmonary fibrosis oboInOwl:hasDbXref UMLS:C1800706 semapv:UnspecifiedMatching DOID:0050157 cryptogenic organizing pneumonia oboInOwl:hasDbXref GARD:1620 semapv:UnspecifiedMatching DOID:0050157 cryptogenic organizing pneumonia oboInOwl:hasDbXref ICD10CM:J84.116 semapv:UnspecifiedMatching DOID:0050157 cryptogenic organizing pneumonia oboInOwl:hasDbXref ICD9CM:516.36 semapv:UnspecifiedMatching @@ -275,13 +273,10 @@ DOID:0050427 xeroderma pigmentosum oboInOwl:hasDbXref MESH:D014983 semapv:Unspec DOID:0050427 xeroderma pigmentosum oboInOwl:hasDbXref NCI:C3452 semapv:UnspecifiedMatching DOID:0050427 xeroderma pigmentosum oboInOwl:hasDbXref ORDO:910 semapv:UnspecifiedMatching DOID:0050427 xeroderma pigmentosum oboInOwl:hasDbXref UMLS:C0043346 semapv:UnspecifiedMatching -DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref MESH:D015776 semapv:UnspecifiedMatching -DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref NCI:C3147 semapv:UnspecifiedMatching -DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:600962 semapv:UnspecifiedMatching -DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ORDO:2337 semapv:UnspecifiedMatching -DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C0022584 semapv:UnspecifiedMatching -DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C3489771 semapv:UnspecifiedMatching -DOID:0050428 nonepidermolytic palmoplantar keratoderma skos:exactMatch OMIM:600962 semapv:UnspecifiedMatching +DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref MESH:C563422 semapv:UnspecifiedMatching +DOID:0050428 nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C1833030 semapv:UnspecifiedMatching +DOID:0050428 nonepidermolytic palmoplantar keratoderma skos:exactMatch MESH:C563422 semapv:UnspecifiedMatching +DOID:0050428 nonepidermolytic palmoplantar keratoderma skos:exactMatch UMLS:C1833030 semapv:UnspecifiedMatching DOID:0050429 Hailey-Hailey disease oboInOwl:hasDbXref GARD:6559 semapv:UnspecifiedMatching DOID:0050429 Hailey-Hailey disease oboInOwl:hasDbXref ICD10CM:Q82.8 semapv:UnspecifiedMatching DOID:0050429 Hailey-Hailey disease oboInOwl:hasDbXref MESH:D016506 semapv:UnspecifiedMatching @@ -2413,15 +2408,15 @@ DOID:0060279 pontocerebellar hypoplasia type 10 oboInOwl:hasDbXref OMIM:615803 s DOID:0060279 pontocerebellar hypoplasia type 10 oboInOwl:hasDbXref ORDO:411493 semapv:UnspecifiedMatching DOID:0060279 pontocerebellar hypoplasia type 10 skos:exactMatch OMIM:615803 semapv:UnspecifiedMatching DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref GARD:10906 semapv:UnspecifiedMatching -DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref MESH:C566469 semapv:UnspecifiedMatching -DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref MESH:C566472 semapv:UnspecifiedMatching -DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref OMIM:610475 semapv:UnspecifiedMatching -DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref OMIM:610489 semapv:UnspecifiedMatching -DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref OMIM:614190 semapv:UnspecifiedMatching -DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref OMIM:615830 semapv:UnspecifiedMatching -DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref ORDO:189439 semapv:UnspecifiedMatching -DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref UMLS:C1864846 semapv:UnspecifiedMatching -DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref UMLS:C1864851 semapv:UnspecifiedMatching +DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref OMIMPS:610489 semapv:UnspecifiedMatching +DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref ORDO:647772 semapv:UnspecifiedMatching +DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref UMLS:C4304832 semapv:UnspecifiedMatching +DOID:0060280 primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref UMLS:C5816750 semapv:UnspecifiedMatching +DOID:0060280 primary pigmented nodular adrenocortical disease skos:exactMatch GARD:10906 semapv:UnspecifiedMatching +DOID:0060280 primary pigmented nodular adrenocortical disease skos:exactMatch OMIMPS:610489 semapv:UnspecifiedMatching +DOID:0060280 primary pigmented nodular adrenocortical disease skos:exactMatch ORDO:647772 semapv:UnspecifiedMatching +DOID:0060280 primary pigmented nodular adrenocortical disease skos:exactMatch UMLS:C4304832 semapv:UnspecifiedMatching +DOID:0060280 primary pigmented nodular adrenocortical disease skos:exactMatch UMLS:C5816750 semapv:UnspecifiedMatching DOID:0060281 photosensitive epilepsy oboInOwl:hasDbXref GARD:5648 semapv:UnspecifiedMatching DOID:0060281 photosensitive epilepsy oboInOwl:hasDbXref ICD10CM:G40.8 semapv:UnspecifiedMatching DOID:0060281 photosensitive epilepsy oboInOwl:hasDbXref OMIM:132100 semapv:UnspecifiedMatching @@ -2628,12 +2623,17 @@ DOID:0060320 inguinal hernia oboInOwl:hasDbXref NCI:C34692 semapv:UnspecifiedMat DOID:0060320 inguinal hernia oboInOwl:hasDbXref UMLS:C0019294 semapv:UnspecifiedMatching DOID:0060320 inguinal hernia oboInOwl:hasDbXref UMLS:C0019295 semapv:UnspecifiedMatching DOID:0060320 inguinal hernia oboInOwl:hasDbXref UMLS:C0019296 semapv:UnspecifiedMatching -DOID:0060321 umbilical hernia oboInOwl:hasDbXref ICD10CM:Q79.2 semapv:UnspecifiedMatching -DOID:0060321 umbilical hernia oboInOwl:hasDbXref ICD9CM:756.72 semapv:UnspecifiedMatching -DOID:0060321 umbilical hernia oboInOwl:hasDbXref MESH:D006554 semapv:UnspecifiedMatching -DOID:0060321 umbilical hernia oboInOwl:hasDbXref NCI:C98997 semapv:UnspecifiedMatching -DOID:0060321 umbilical hernia oboInOwl:hasDbXref UMLS:C0795690 semapv:UnspecifiedMatching -DOID:0060321 umbilical hernia oboInOwl:hasDbXref UMLS:C1306503 semapv:UnspecifiedMatching +DOID:0060321 umbilical hernia oboInOwl:hasDbXref ICD10CM:K42 semapv:UnspecifiedMatching +DOID:0060321 umbilical hernia oboInOwl:hasDbXref ICD9CM:553.1 semapv:UnspecifiedMatching +DOID:0060321 umbilical hernia oboInOwl:hasDbXref NCI:C118375 semapv:UnspecifiedMatching +DOID:0060321 umbilical hernia oboInOwl:hasDbXref UMLS:C0019322 semapv:UnspecifiedMatching +DOID:0060321 umbilical hernia skos:broadMatch MESH:D006554 semapv:UnspecifiedMatching +DOID:0060321 umbilical hernia skos:exactMatch ICD10CM:K42 semapv:UnspecifiedMatching +DOID:0060321 umbilical hernia skos:exactMatch ICD9CM:553.1 semapv:UnspecifiedMatching +DOID:0060321 umbilical hernia skos:exactMatch NCI:C118375 semapv:UnspecifiedMatching +DOID:0060321 umbilical hernia skos:exactMatch SNOMEDCT_US_2020_03_01:49324006 semapv:UnspecifiedMatching +DOID:0060321 umbilical hernia skos:exactMatch UMLS:C0019322 semapv:UnspecifiedMatching +DOID:0060321 umbilical hernia skos:narrowMatch ICD9CM:551.1 semapv:UnspecifiedMatching DOID:0060322 mastoiditis oboInOwl:hasDbXref ICD10CM:H70.9 semapv:UnspecifiedMatching DOID:0060322 mastoiditis oboInOwl:hasDbXref ICD9CM:383.9 semapv:UnspecifiedMatching DOID:0060322 mastoiditis oboInOwl:hasDbXref MESH:D008417 semapv:UnspecifiedMatching @@ -2652,12 +2652,16 @@ DOID:0060326 myelomeningocele oboInOwl:hasDbXref UMLS:C0086664 semapv:Unspecifie DOID:0060326 myelomeningocele oboInOwl:hasDbXref UMLS:C0751316 semapv:UnspecifiedMatching DOID:0060327 omphalocele oboInOwl:hasDbXref ICD10CM:Q79.2 semapv:UnspecifiedMatching DOID:0060327 omphalocele oboInOwl:hasDbXref ICD9CM:756.72 semapv:UnspecifiedMatching -DOID:0060327 omphalocele oboInOwl:hasDbXref MESH:D006554 semapv:UnspecifiedMatching DOID:0060327 omphalocele oboInOwl:hasDbXref NCI:C98997 semapv:UnspecifiedMatching -DOID:0060327 omphalocele oboInOwl:hasDbXref OMIM:164750 semapv:UnspecifiedMatching +DOID:0060327 omphalocele oboInOwl:hasDbXref ORDO:660 semapv:UnspecifiedMatching DOID:0060327 omphalocele oboInOwl:hasDbXref UMLS:C0795690 semapv:UnspecifiedMatching -DOID:0060327 omphalocele oboInOwl:hasDbXref UMLS:C1306503 semapv:UnspecifiedMatching -DOID:0060327 omphalocele skos:exactMatch OMIM:164750 semapv:UnspecifiedMatching +DOID:0060327 omphalocele skos:broadMatch MESH:D006554 semapv:UnspecifiedMatching +DOID:0060327 omphalocele skos:exactMatch ICD10CM:Q79.2 semapv:UnspecifiedMatching +DOID:0060327 omphalocele skos:exactMatch ICD9CM:756.72 semapv:UnspecifiedMatching +DOID:0060327 omphalocele skos:exactMatch NCI:C98997 semapv:UnspecifiedMatching +DOID:0060327 omphalocele skos:exactMatch ORDO:660 semapv:UnspecifiedMatching +DOID:0060327 omphalocele skos:exactMatch SNOMEDCT_US_2020_03_01:5867007 semapv:UnspecifiedMatching +DOID:0060327 omphalocele skos:exactMatch UMLS:C0795690 semapv:UnspecifiedMatching DOID:0060328 anal fistula oboInOwl:hasDbXref ICD10CM:K60.3 semapv:UnspecifiedMatching DOID:0060328 anal fistula oboInOwl:hasDbXref MESH:D012003 semapv:UnspecifiedMatching DOID:0060329 ectopic pregnancy oboInOwl:hasDbXref GARD:6318 semapv:UnspecifiedMatching @@ -3535,12 +3539,12 @@ DOID:0060590 XFE progeroid syndrome oboInOwl:hasDbXref GARD:10628 semapv:Unspeci DOID:0060590 XFE progeroid syndrome oboInOwl:hasDbXref MESH:C567043 semapv:UnspecifiedMatching DOID:0060590 XFE progeroid syndrome oboInOwl:hasDbXref OMIM:610965 semapv:UnspecifiedMatching DOID:0060590 XFE progeroid syndrome skos:exactMatch OMIM:610965 semapv:UnspecifiedMatching -DOID:0060591 WHIM syndrome oboInOwl:hasDbXref GARD:9297 semapv:UnspecifiedMatching -DOID:0060591 WHIM syndrome oboInOwl:hasDbXref MESH:C536697 semapv:UnspecifiedMatching -DOID:0060591 WHIM syndrome oboInOwl:hasDbXref NCI:C176819 semapv:UnspecifiedMatching -DOID:0060591 WHIM syndrome oboInOwl:hasDbXref OMIM:193670 semapv:UnspecifiedMatching -DOID:0060591 WHIM syndrome oboInOwl:hasDbXref UMLS:C0472817 semapv:UnspecifiedMatching -DOID:0060591 WHIM syndrome skos:exactMatch OMIM:193670 semapv:UnspecifiedMatching +DOID:0060591 WHIM syndrome 1 oboInOwl:hasDbXref GARD:9297 semapv:UnspecifiedMatching +DOID:0060591 WHIM syndrome 1 oboInOwl:hasDbXref MESH:C536697 semapv:UnspecifiedMatching +DOID:0060591 WHIM syndrome 1 oboInOwl:hasDbXref NCI:C176819 semapv:UnspecifiedMatching +DOID:0060591 WHIM syndrome 1 oboInOwl:hasDbXref OMIM:193670 semapv:UnspecifiedMatching +DOID:0060591 WHIM syndrome 1 oboInOwl:hasDbXref UMLS:C0472817 semapv:UnspecifiedMatching +DOID:0060591 WHIM syndrome 1 skos:exactMatch OMIM:193670 semapv:UnspecifiedMatching DOID:0060592 B-cell adult acute lymphocytic leukemia oboInOwl:hasDbXref NCI:C9143 semapv:UnspecifiedMatching DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref ICD10CM:C92.2 semapv:UnspecifiedMatching DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative oboInOwl:hasDbXref ICD9CM:205.2 semapv:UnspecifiedMatching @@ -4790,6 +4794,20 @@ DOID:0060969 galactosemia 4 oboInOwl:hasDbXref ORDO:570422 semapv:UnspecifiedMat DOID:0060969 galactosemia 4 skos:exactMatch OMIM:618881 semapv:UnspecifiedMatching DOID:0060970 Cornelia de Lange syndrome 6 oboInOwl:hasDbXref OMIM:620568 semapv:UnspecifiedMatching DOID:0060970 Cornelia de Lange syndrome 6 skos:exactMatch OMIM:620568 semapv:UnspecifiedMatching +DOID:0060971 interstitial lung disease 2 oboInOwl:hasDbXref OMIM:178500 semapv:UnspecifiedMatching +DOID:0060971 interstitial lung disease 2 skos:exactMatch OMIM:178500 semapv:UnspecifiedMatching +DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy oboInOwl:hasDbXref OMIM:620152 semapv:UnspecifiedMatching +DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy skos:exactMatch OMIM:620152 semapv:UnspecifiedMatching +DOID:0060973 WHIM syndrome 2 oboInOwl:hasDbXref OMIM:619407 semapv:UnspecifiedMatching +DOID:0060973 WHIM syndrome 2 skos:exactMatch OMIM:619407 semapv:UnspecifiedMatching +DOID:0060974 autosomal recessive Robinow syndrome 2 oboInOwl:hasDbXref OMIM:618529 semapv:UnspecifiedMatching +DOID:0060974 autosomal recessive Robinow syndrome 2 skos:exactMatch OMIM:618529 semapv:UnspecifiedMatching +DOID:0060975 polycystic liver disease 2 oboInOwl:hasDbXref OMIM:617004 semapv:UnspecifiedMatching +DOID:0060975 polycystic liver disease 2 skos:exactMatch OMIM:617004 semapv:UnspecifiedMatching +DOID:0060976 polycystic liver disease 3 with or without kidney cysts oboInOwl:hasDbXref OMIM:617874 semapv:UnspecifiedMatching +DOID:0060976 polycystic liver disease 3 with or without kidney cysts skos:exactMatch OMIM:617874 semapv:UnspecifiedMatching +DOID:0060977 polycystic liver disease 4 with or without kidney cysts oboInOwl:hasDbXref OMIM:617875 semapv:UnspecifiedMatching +DOID:0060977 polycystic liver disease 4 with or without kidney cysts skos:exactMatch OMIM:617875 semapv:UnspecifiedMatching DOID:0070000 3-methylglutaconic aciduria type 8 oboInOwl:hasDbXref OMIM:617248 semapv:UnspecifiedMatching DOID:0070000 3-methylglutaconic aciduria type 8 skos:exactMatch OMIM:617248 semapv:UnspecifiedMatching DOID:0070002 3-methylglutaconic aciduria type 9 oboInOwl:hasDbXref OMIM:617698 semapv:UnspecifiedMatching @@ -5517,8 +5535,12 @@ DOID:0070269 congenital disorder of glycosylation type IIq oboInOwl:hasDbXref OR DOID:0070269 congenital disorder of glycosylation type IIq skos:exactMatch OMIM:617395 semapv:UnspecifiedMatching DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 oboInOwl:hasDbXref OMIM:613244 semapv:UnspecifiedMatching DOID:0070270 hereditary nonpolyposis colorectal cancer type 8 skos:exactMatch OMIM:613244 semapv:UnspecifiedMatching +DOID:0070271 Lynch syndrome 1 oboInOwl:hasDbXref NCI:C6725 semapv:UnspecifiedMatching DOID:0070271 Lynch syndrome 1 oboInOwl:hasDbXref OMIM:120435 semapv:UnspecifiedMatching +DOID:0070271 Lynch syndrome 1 oboInOwl:hasDbXref UMLS:C2936783 semapv:UnspecifiedMatching +DOID:0070271 Lynch syndrome 1 skos:exactMatch NCI:C6725 semapv:UnspecifiedMatching DOID:0070271 Lynch syndrome 1 skos:exactMatch OMIM:120435 semapv:UnspecifiedMatching +DOID:0070271 Lynch syndrome 1 skos:exactMatch UMLS:C2936783 semapv:UnspecifiedMatching DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 oboInOwl:hasDbXref OMIM:614350 semapv:UnspecifiedMatching DOID:0070272 hereditary nonpolyposis colorectal cancer type 5 skos:exactMatch OMIM:614350 semapv:UnspecifiedMatching DOID:0070273 hereditary nonpolyposis colorectal cancer type 6 oboInOwl:hasDbXref OMIM:614331 semapv:UnspecifiedMatching @@ -6327,6 +6349,58 @@ DOID:0070544 congenital glutamine deficiency skos:exactMatch OMIM:610015 semapv: DOID:0070544 congenital glutamine deficiency skos:exactMatch ORDO:71278 semapv:UnspecifiedMatching DOID:0070545 developmental and epileptic encephalopathy 116 oboInOwl:hasDbXref OMIM:620806 semapv:UnspecifiedMatching DOID:0070545 developmental and epileptic encephalopathy 116 skos:exactMatch OMIM:620806 semapv:UnspecifiedMatching +DOID:0070546 primary pigmented nodular adrenocortical disease 1 oboInOwl:hasDbXref MESH:C566469 semapv:UnspecifiedMatching +DOID:0070546 primary pigmented nodular adrenocortical disease 1 oboInOwl:hasDbXref OMIM:610489 semapv:UnspecifiedMatching +DOID:0070546 primary pigmented nodular adrenocortical disease 1 oboInOwl:hasDbXref UMLS:C1864846 semapv:UnspecifiedMatching +DOID:0070546 primary pigmented nodular adrenocortical disease 1 skos:exactMatch MESH:C566469 semapv:UnspecifiedMatching +DOID:0070546 primary pigmented nodular adrenocortical disease 1 skos:exactMatch OMIM:610489 semapv:UnspecifiedMatching +DOID:0070546 primary pigmented nodular adrenocortical disease 1 skos:exactMatch UMLS:C1864846 semapv:UnspecifiedMatching +DOID:0070547 primary pigmented nodular adrenocortical disease 2 oboInOwl:hasDbXref MESH:C566472 semapv:UnspecifiedMatching +DOID:0070547 primary pigmented nodular adrenocortical disease 2 oboInOwl:hasDbXref OMIM:610475 semapv:UnspecifiedMatching +DOID:0070547 primary pigmented nodular adrenocortical disease 2 oboInOwl:hasDbXref UMLS:C1864851 semapv:UnspecifiedMatching +DOID:0070547 primary pigmented nodular adrenocortical disease 2 skos:exactMatch MESH:C566472 semapv:UnspecifiedMatching +DOID:0070547 primary pigmented nodular adrenocortical disease 2 skos:exactMatch OMIM:610475 semapv:UnspecifiedMatching +DOID:0070547 primary pigmented nodular adrenocortical disease 2 skos:exactMatch UMLS:C1864851 semapv:UnspecifiedMatching +DOID:0070548 primary pigmented nodular adrenocortical disease 3 oboInOwl:hasDbXref OMIM:614190 semapv:UnspecifiedMatching +DOID:0070548 primary pigmented nodular adrenocortical disease 3 skos:exactMatch OMIM:614190 semapv:UnspecifiedMatching +DOID:0070549 primary pigmented nodular adrenocortical disease 4 oboInOwl:hasDbXref OMIM:615830 semapv:UnspecifiedMatching +DOID:0070549 primary pigmented nodular adrenocortical disease 4 skos:exactMatch OMIM:615830 semapv:UnspecifiedMatching +DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref GARD:5186 semapv:UnspecifiedMatching +DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:600962 semapv:UnspecifiedMatching +DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ORDO:530838 semapv:UnspecifiedMatching +DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C5680142 semapv:UnspecifiedMatching +DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma skos:exactMatch GARD:5186 semapv:UnspecifiedMatching +DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma skos:exactMatch OMIM:600962 semapv:UnspecifiedMatching +DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma skos:exactMatch ORDO:530838 semapv:UnspecifiedMatching +DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma skos:exactMatch UMLS:C5680142 semapv:UnspecifiedMatching +DOID:0070551 epidermolytic palmoplantar keratoderma 2 oboInOwl:hasDbXref OMIM:620411 semapv:UnspecifiedMatching +DOID:0070551 epidermolytic palmoplantar keratoderma 2 skos:exactMatch OMIM:620411 semapv:UnspecifiedMatching +DOID:0070552 epidermolytic palmoplantar keratoderma 1 oboInOwl:hasDbXref OMIM:144200 semapv:UnspecifiedMatching +DOID:0070552 epidermolytic palmoplantar keratoderma 1 skos:exactMatch OMIM:144200 semapv:UnspecifiedMatching +DOID:0070553 focal palmoplantar and gingival keratosis oboInOwl:hasDbXref GARD:3098 semapv:UnspecifiedMatching +DOID:0070553 focal palmoplantar and gingival keratosis oboInOwl:hasDbXref MESH:C536157 semapv:UnspecifiedMatching +DOID:0070553 focal palmoplantar and gingival keratosis oboInOwl:hasDbXref OMIM:148730 semapv:UnspecifiedMatching +DOID:0070553 focal palmoplantar and gingival keratosis oboInOwl:hasDbXref ORDO:2200 semapv:UnspecifiedMatching +DOID:0070553 focal palmoplantar and gingival keratosis oboInOwl:hasDbXref UMLS:C1835650 semapv:UnspecifiedMatching +DOID:0070553 focal palmoplantar and gingival keratosis skos:exactMatch GARD:3098 semapv:UnspecifiedMatching +DOID:0070553 focal palmoplantar and gingival keratosis skos:exactMatch MESH:C536157 semapv:UnspecifiedMatching +DOID:0070553 focal palmoplantar and gingival keratosis skos:exactMatch OMIM:148730 semapv:UnspecifiedMatching +DOID:0070553 focal palmoplantar and gingival keratosis skos:exactMatch ORDO:2200 semapv:UnspecifiedMatching +DOID:0070553 focal palmoplantar and gingival keratosis skos:exactMatch UMLS:C1835650 semapv:UnspecifiedMatching +DOID:0070554 palmoplantar keratoderma and woolly hair oboInOwl:hasDbXref OMIM:616099 semapv:UnspecifiedMatching +DOID:0070554 palmoplantar keratoderma and woolly hair oboInOwl:hasDbXref ORDO:420686 semapv:UnspecifiedMatching +DOID:0070554 palmoplantar keratoderma and woolly hair oboInOwl:hasDbXref UMLS:C4015202 semapv:UnspecifiedMatching +DOID:0070554 palmoplantar keratoderma and woolly hair oboInOwl:hasDbXref UMLS:C4706686 semapv:UnspecifiedMatching +DOID:0070554 palmoplantar keratoderma and woolly hair skos:exactMatch OMIM:616099 semapv:UnspecifiedMatching +DOID:0070554 palmoplantar keratoderma and woolly hair skos:exactMatch ORDO:420686 semapv:UnspecifiedMatching +DOID:0070554 palmoplantar keratoderma and woolly hair skos:exactMatch UMLS:C4015202 semapv:UnspecifiedMatching +DOID:0070554 palmoplantar keratoderma and woolly hair skos:exactMatch UMLS:C4706686 semapv:UnspecifiedMatching +DOID:0070555 Nagashima-type palmoplantar keratosis oboInOwl:hasDbXref OMIM:615598 semapv:UnspecifiedMatching +DOID:0070555 Nagashima-type palmoplantar keratosis oboInOwl:hasDbXref ORDO:140966 semapv:UnspecifiedMatching +DOID:0070555 Nagashima-type palmoplantar keratosis oboInOwl:hasDbXref UMLS:C3810072 semapv:UnspecifiedMatching +DOID:0070555 Nagashima-type palmoplantar keratosis skos:exactMatch OMIM:615598 semapv:UnspecifiedMatching +DOID:0070555 Nagashima-type palmoplantar keratosis skos:exactMatch ORDO:140966 semapv:UnspecifiedMatching +DOID:0070555 Nagashima-type palmoplantar keratosis skos:exactMatch UMLS:C3810072 semapv:UnspecifiedMatching DOID:0080001 bone disease oboInOwl:hasDbXref ICD10CM:M89.9 semapv:UnspecifiedMatching DOID:0080001 bone disease oboInOwl:hasDbXref MESH:D001847 semapv:UnspecifiedMatching DOID:0080001 bone disease oboInOwl:hasDbXref UMLS:C0005940 semapv:UnspecifiedMatching @@ -6854,9 +6928,17 @@ DOID:0080222 pseudohypoparathyroidism type IB oboInOwl:hasDbXref OMIM:603233 sem DOID:0080222 pseudohypoparathyroidism type IB oboInOwl:hasDbXref ORDO:94089 semapv:UnspecifiedMatching DOID:0080222 pseudohypoparathyroidism type IB skos:exactMatch OMIM:603233 semapv:UnspecifiedMatching DOID:0080223 epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref GARD:2826 semapv:UnspecifiedMatching -DOID:0080223 epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIM:144200 semapv:UnspecifiedMatching +DOID:0080223 epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref MESH:D053546 semapv:UnspecifiedMatching +DOID:0080223 epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref NCI:C84693 semapv:UnspecifiedMatching +DOID:0080223 epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref OMIMPS:144200 semapv:UnspecifiedMatching DOID:0080223 epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ORDO:2199 semapv:UnspecifiedMatching -DOID:0080223 epidermolytic palmoplantar keratoderma skos:exactMatch OMIM:144200 semapv:UnspecifiedMatching +DOID:0080223 epidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C1721006 semapv:UnspecifiedMatching +DOID:0080223 epidermolytic palmoplantar keratoderma skos:exactMatch GARD:2826 semapv:UnspecifiedMatching +DOID:0080223 epidermolytic palmoplantar keratoderma skos:exactMatch MESH:D053546 semapv:UnspecifiedMatching +DOID:0080223 epidermolytic palmoplantar keratoderma skos:exactMatch NCI:C84693 semapv:UnspecifiedMatching +DOID:0080223 epidermolytic palmoplantar keratoderma skos:exactMatch OMIMPS:144200 semapv:UnspecifiedMatching +DOID:0080223 epidermolytic palmoplantar keratoderma skos:exactMatch ORDO:2199 semapv:UnspecifiedMatching +DOID:0080223 epidermolytic palmoplantar keratoderma skos:exactMatch UMLS:C1721006 semapv:UnspecifiedMatching DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa oboInOwl:hasDbXref GARD:2139 semapv:UnspecifiedMatching DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa oboInOwl:hasDbXref OMIM:131750 semapv:UnspecifiedMatching DOID:0080224 autosomal dominant dystrophic epidermolysis bullosa skos:exactMatch OMIM:131750 semapv:UnspecifiedMatching @@ -7484,13 +7566,13 @@ DOID:0080519 PAPA syndrome skos:exactMatch OMIM:604416 semapv:UnspecifiedMatchin DOID:0080520 Tn polyagglutination syndrome oboInOwl:hasDbXref OMIM:300622 semapv:UnspecifiedMatching DOID:0080520 Tn polyagglutination syndrome skos:exactMatch OMIM:300622 semapv:UnspecifiedMatching DOID:0080521 lung non-squamous non-small cell carcinoma oboInOwl:hasDbXref NCI:C135017 semapv:UnspecifiedMatching -DOID:0080522 thyroid gland anaplastic carcinoma oboInOwl:hasDbXref NCI:C3878 semapv:UnspecifiedMatching +DOID:0080522 anaplastic thyroid carcinoma oboInOwl:hasDbXref NCI:C3878 semapv:UnspecifiedMatching DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref GARD:10981 semapv:UnspecifiedMatching DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref OMIM:221820 semapv:UnspecifiedMatching DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref ORDO:313808 semapv:UnspecifiedMatching DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia skos:exactMatch OMIM:221820 semapv:UnspecifiedMatching DOID:0080524 thyroid gland adenocarcinoma oboInOwl:hasDbXref NCI:C27380 semapv:UnspecifiedMatching -DOID:0080525 differentiated thyroid gland carcinoma oboInOwl:hasDbXref NCI:C7153 semapv:UnspecifiedMatching +DOID:0080525 differentiated high-grade thyroid carcinoma oboInOwl:hasDbXref NCI:C7153 semapv:UnspecifiedMatching DOID:0080526 bronchiectasis 1 oboInOwl:hasDbXref OMIM:211400 semapv:UnspecifiedMatching DOID:0080526 bronchiectasis 1 skos:exactMatch OMIM:211400 semapv:UnspecifiedMatching DOID:0080527 bronchiectasis 2 oboInOwl:hasDbXref OMIM:613021 semapv:UnspecifiedMatching @@ -7655,12 +7737,12 @@ DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type oboInOwl:hasDbXref DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type oboInOwl:hasDbXref OMIM:610442 semapv:UnspecifiedMatching DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type oboInOwl:hasDbXref ORDO:168454 semapv:UnspecifiedMatching DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type skos:exactMatch OMIM:610442 semapv:UnspecifiedMatching -DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency oboInOwl:hasDbXref MESH:C535308 semapv:UnspecifiedMatching -DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency oboInOwl:hasDbXref OMIM:210200 semapv:UnspecifiedMatching -DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency skos:exactMatch OMIM:210200 semapv:UnspecifiedMatching -DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency oboInOwl:hasDbXref MESH:C535309 semapv:UnspecifiedMatching -DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency oboInOwl:hasDbXref OMIM:210210 semapv:UnspecifiedMatching -DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency skos:exactMatch OMIM:210210 semapv:UnspecifiedMatching +DOID:0080579 3-methylcrotonyl-CoA carboxylase 1 deficiency oboInOwl:hasDbXref MESH:C535308 semapv:UnspecifiedMatching +DOID:0080579 3-methylcrotonyl-CoA carboxylase 1 deficiency oboInOwl:hasDbXref OMIM:210200 semapv:UnspecifiedMatching +DOID:0080579 3-methylcrotonyl-CoA carboxylase 1 deficiency skos:exactMatch OMIM:210200 semapv:UnspecifiedMatching +DOID:0080580 3-methylcrotonyl-CoA carboxylase 2 deficiency oboInOwl:hasDbXref MESH:C535309 semapv:UnspecifiedMatching +DOID:0080580 3-methylcrotonyl-CoA carboxylase 2 deficiency oboInOwl:hasDbXref OMIM:210210 semapv:UnspecifiedMatching +DOID:0080580 3-methylcrotonyl-CoA carboxylase 2 deficiency skos:exactMatch OMIM:210210 semapv:UnspecifiedMatching DOID:0080581 hyperekplexia 4 oboInOwl:hasDbXref OMIM:618011 semapv:UnspecifiedMatching DOID:0080581 hyperekplexia 4 skos:exactMatch OMIM:618011 semapv:UnspecifiedMatching DOID:0080582 hypotrichosis 14 oboInOwl:hasDbXref OMIM:618275 semapv:UnspecifiedMatching @@ -9390,6 +9472,12 @@ DOID:0081454 Dent disease 2 oboInOwl:hasDbXref MESH:C564487 semapv:UnspecifiedMa DOID:0081454 Dent disease 2 oboInOwl:hasDbXref OMIM:300555 semapv:UnspecifiedMatching DOID:0081454 Dent disease 2 oboInOwl:hasDbXref UMLS:C1845167 semapv:UnspecifiedMatching DOID:0081454 Dent disease 2 skos:exactMatch OMIM:300555 semapv:UnspecifiedMatching +DOID:0081457 intrathyroid thymic carcinoma oboInOwl:hasDbXref ICDO:8589/3 semapv:UnspecifiedMatching +DOID:0081457 intrathyroid thymic carcinoma oboInOwl:hasDbXref NCI:C46106 semapv:UnspecifiedMatching +DOID:0081458 thyroid gland cribriform morular carcinoma oboInOwl:hasDbXref NCI:C126408 semapv:UnspecifiedMatching +DOID:0081459 thyroid gland mixed medullary and follicular cell-derived carcinoma oboInOwl:hasDbXref NCI:C46104 semapv:UnspecifiedMatching +DOID:0081460 thyroid gland mucinous carcinoma oboInOwl:hasDbXref NCI:C156267 semapv:UnspecifiedMatching +DOID:0081461 thyroid gland spindle epithelial tumor with thymus-like elements oboInOwl:hasDbXref NCI:C46105 semapv:UnspecifiedMatching DOID:0090001 Fraser syndrome oboInOwl:hasDbXref GARD:6465 semapv:UnspecifiedMatching DOID:0090001 Fraser syndrome oboInOwl:hasDbXref ICD10CM:Q87.0 semapv:UnspecifiedMatching DOID:0090001 Fraser syndrome oboInOwl:hasDbXref MESH:D058497 semapv:UnspecifiedMatching @@ -15704,8 +15792,15 @@ DOID:0111705 oculoectodermal syndrome skos:exactMatch OMIM:600268 semapv:Unspeci DOID:0111706 oblique facial clefting 1 oboInOwl:hasDbXref OMIM:600251 semapv:UnspecifiedMatching DOID:0111706 oblique facial clefting 1 skos:exactMatch OMIM:600251 semapv:UnspecifiedMatching DOID:0111707 Bothnian type palmoplantar keratoderma oboInOwl:hasDbXref GARD:1862 semapv:UnspecifiedMatching +DOID:0111707 Bothnian type palmoplantar keratoderma oboInOwl:hasDbXref MESH:C536173 semapv:UnspecifiedMatching DOID:0111707 Bothnian type palmoplantar keratoderma oboInOwl:hasDbXref OMIM:600231 semapv:UnspecifiedMatching +DOID:0111707 Bothnian type palmoplantar keratoderma oboInOwl:hasDbXref ORDO:2337 semapv:UnspecifiedMatching +DOID:0111707 Bothnian type palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C1838359 semapv:UnspecifiedMatching +DOID:0111707 Bothnian type palmoplantar keratoderma skos:exactMatch GARD:1862 semapv:UnspecifiedMatching +DOID:0111707 Bothnian type palmoplantar keratoderma skos:exactMatch MESH:C536173 semapv:UnspecifiedMatching DOID:0111707 Bothnian type palmoplantar keratoderma skos:exactMatch OMIM:600231 semapv:UnspecifiedMatching +DOID:0111707 Bothnian type palmoplantar keratoderma skos:exactMatch ORDO:2337 semapv:UnspecifiedMatching +DOID:0111707 Bothnian type palmoplantar keratoderma skos:exactMatch UMLS:C1838359 semapv:UnspecifiedMatching DOID:0111708 focal nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref MESH:C538682 semapv:UnspecifiedMatching DOID:0111708 focal nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref ORDO:448264 semapv:UnspecifiedMatching DOID:0111708 focal nonepidermolytic palmoplantar keratoderma oboInOwl:hasDbXref UMLS:C2931923 semapv:UnspecifiedMatching @@ -29649,12 +29744,21 @@ DOID:3877 functional colonic disease oboInOwl:hasDbXref MESH:D003109 semapv:Unsp DOID:3877 functional colonic disease oboInOwl:hasDbXref UMLS:C0009374 semapv:UnspecifiedMatching DOID:3883 Lynch syndrome oboInOwl:hasDbXref GARD:9905 semapv:UnspecifiedMatching DOID:3883 Lynch syndrome oboInOwl:hasDbXref MESH:D003123 semapv:UnspecifiedMatching -DOID:3883 Lynch syndrome oboInOwl:hasDbXref NCI:C120083 semapv:UnspecifiedMatching +DOID:3883 Lynch syndrome oboInOwl:hasDbXref NCI:C8494 semapv:UnspecifiedMatching DOID:3883 Lynch syndrome oboInOwl:hasDbXref OMIMPS:120435 semapv:UnspecifiedMatching DOID:3883 Lynch syndrome oboInOwl:hasDbXref ORDO:144 semapv:UnspecifiedMatching DOID:3883 Lynch syndrome oboInOwl:hasDbXref UMLS:C0009405 semapv:UnspecifiedMatching -DOID:3883 Lynch syndrome oboInOwl:hasDbXref UMLS:C1333990 semapv:UnspecifiedMatching +DOID:3883 Lynch syndrome oboInOwl:hasDbXref UMLS:C4552100 semapv:UnspecifiedMatching +DOID:3883 Lynch syndrome skos:broadMatch NCI:C120083 semapv:UnspecifiedMatching +DOID:3883 Lynch syndrome skos:broadMatch ORDO:443909 semapv:UnspecifiedMatching +DOID:3883 Lynch syndrome skos:broadMatch UMLS:C1333990 semapv:UnspecifiedMatching +DOID:3883 Lynch syndrome skos:exactMatch GARD:9905 semapv:UnspecifiedMatching +DOID:3883 Lynch syndrome skos:exactMatch MESH:D003123 semapv:UnspecifiedMatching +DOID:3883 Lynch syndrome skos:exactMatch NCI:C8494 semapv:UnspecifiedMatching DOID:3883 Lynch syndrome skos:exactMatch OMIMPS:120435 semapv:UnspecifiedMatching +DOID:3883 Lynch syndrome skos:exactMatch ORDO:144 semapv:UnspecifiedMatching +DOID:3883 Lynch syndrome skos:exactMatch UMLS:C0009405 semapv:UnspecifiedMatching +DOID:3883 Lynch syndrome skos:exactMatch UMLS:C4552100 semapv:UnspecifiedMatching DOID:3890 acute intermittent porphyria oboInOwl:hasDbXref GARD:5732 semapv:UnspecifiedMatching DOID:3890 acute intermittent porphyria oboInOwl:hasDbXref MESH:D017118 semapv:UnspecifiedMatching DOID:3890 acute intermittent porphyria oboInOwl:hasDbXref NCI:C84536 semapv:UnspecifiedMatching @@ -29781,11 +29885,12 @@ DOID:3953 adrenal gland cancer oboInOwl:hasDbXref UMLS:C0750887 semapv:Unspecifi DOID:396 Loeffler endocarditis oboInOwl:hasDbXref ICD10CM:I42.3 semapv:UnspecifiedMatching DOID:396 Loeffler endocarditis oboInOwl:hasDbXref NCI:C27044 semapv:UnspecifiedMatching DOID:396 Loeffler endocarditis oboInOwl:hasDbXref UMLS:C0264834 semapv:UnspecifiedMatching -DOID:3962 thyroid gland follicular carcinoma oboInOwl:hasDbXref MESH:D018263 semapv:UnspecifiedMatching -DOID:3962 thyroid gland follicular carcinoma oboInOwl:hasDbXref NCI:C8054 semapv:UnspecifiedMatching -DOID:3962 thyroid gland follicular carcinoma oboInOwl:hasDbXref OMIM:188470 semapv:UnspecifiedMatching -DOID:3962 thyroid gland follicular carcinoma oboInOwl:hasDbXref UMLS:C0206682 semapv:UnspecifiedMatching -DOID:3962 thyroid gland follicular carcinoma skos:exactMatch OMIM:188470 semapv:UnspecifiedMatching +DOID:3962 follicular thyroid carcinoma oboInOwl:hasDbXref ICDO:8330/3 semapv:UnspecifiedMatching +DOID:3962 follicular thyroid carcinoma oboInOwl:hasDbXref MESH:D018263 semapv:UnspecifiedMatching +DOID:3962 follicular thyroid carcinoma oboInOwl:hasDbXref NCI:C8054 semapv:UnspecifiedMatching +DOID:3962 follicular thyroid carcinoma oboInOwl:hasDbXref OMIM:188470 semapv:UnspecifiedMatching +DOID:3962 follicular thyroid carcinoma oboInOwl:hasDbXref UMLS:C0206682 semapv:UnspecifiedMatching +DOID:3962 follicular thyroid carcinoma skos:exactMatch OMIM:188470 semapv:UnspecifiedMatching DOID:3963 thyroid gland carcinoma oboInOwl:hasDbXref EFO:0002892 semapv:UnspecifiedMatching DOID:3963 thyroid gland carcinoma oboInOwl:hasDbXref MESH:D013964 semapv:UnspecifiedMatching DOID:3963 thyroid gland carcinoma oboInOwl:hasDbXref NCI:C4815 semapv:UnspecifiedMatching @@ -29796,15 +29901,16 @@ DOID:3965 Merkel cell carcinoma oboInOwl:hasDbXref GARD:9266 semapv:UnspecifiedM DOID:3965 Merkel cell carcinoma oboInOwl:hasDbXref ICDO:8247/3 semapv:UnspecifiedMatching DOID:3965 Merkel cell carcinoma oboInOwl:hasDbXref NCI:C4068 semapv:UnspecifiedMatching DOID:3965 Merkel cell carcinoma oboInOwl:hasDbXref UMLS:C0302182 semapv:UnspecifiedMatching -DOID:3968 papillary follicular thyroid adenocarcinoma oboInOwl:hasDbXref MESH:D018265 semapv:UnspecifiedMatching -DOID:3968 papillary follicular thyroid adenocarcinoma oboInOwl:hasDbXref NCI:C7380 semapv:UnspecifiedMatching -DOID:3968 papillary follicular thyroid adenocarcinoma oboInOwl:hasDbXref UMLS:C0206683 semapv:UnspecifiedMatching -DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref GARD:12027 semapv:UnspecifiedMatching -DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref MESH:D000077273 semapv:UnspecifiedMatching -DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref NCI:C4035 semapv:UnspecifiedMatching -DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref OMIM:188550 semapv:UnspecifiedMatching -DOID:3969 thyroid gland papillary carcinoma oboInOwl:hasDbXref UMLS:C0238463 semapv:UnspecifiedMatching -DOID:3969 thyroid gland papillary carcinoma skos:exactMatch OMIM:188550 semapv:UnspecifiedMatching +DOID:3968 obsolete papillary follicular thyroid adenocarcinoma oboInOwl:hasDbXref MESH:D018265 semapv:UnspecifiedMatching +DOID:3968 obsolete papillary follicular thyroid adenocarcinoma oboInOwl:hasDbXref NCI:C7380 semapv:UnspecifiedMatching +DOID:3968 obsolete papillary follicular thyroid adenocarcinoma oboInOwl:hasDbXref UMLS:C0206683 semapv:UnspecifiedMatching +DOID:3969 papillary thyroid carcinoma oboInOwl:hasDbXref GARD:12027 semapv:UnspecifiedMatching +DOID:3969 papillary thyroid carcinoma oboInOwl:hasDbXref ICDO:8260/3 semapv:UnspecifiedMatching +DOID:3969 papillary thyroid carcinoma oboInOwl:hasDbXref MESH:D000077273 semapv:UnspecifiedMatching +DOID:3969 papillary thyroid carcinoma oboInOwl:hasDbXref NCI:C4035 semapv:UnspecifiedMatching +DOID:3969 papillary thyroid carcinoma oboInOwl:hasDbXref OMIM:188550 semapv:UnspecifiedMatching +DOID:3969 papillary thyroid carcinoma oboInOwl:hasDbXref UMLS:C0238463 semapv:UnspecifiedMatching +DOID:3969 papillary thyroid carcinoma skos:exactMatch OMIM:188550 semapv:UnspecifiedMatching DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref ICD10CM:I42.5 semapv:UnspecifiedMatching DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref MESH:D002313 semapv:UnspecifiedMatching DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref NCI:C62798 semapv:UnspecifiedMatching @@ -29812,9 +29918,10 @@ DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref OMIM:115210 semapv:Unspec DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref OMIMPS:115210 semapv:UnspecifiedMatching DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref ORDO:75249 semapv:UnspecifiedMatching DOID:397 restrictive cardiomyopathy oboInOwl:hasDbXref UMLS:C0007196 semapv:UnspecifiedMatching -DOID:3973 thyroid gland medullary carcinoma oboInOwl:hasDbXref MESH:C536914 semapv:UnspecifiedMatching -DOID:3973 thyroid gland medullary carcinoma oboInOwl:hasDbXref NCI:C3879 semapv:UnspecifiedMatching -DOID:3973 thyroid gland medullary carcinoma oboInOwl:hasDbXref UMLS:C0238462 semapv:UnspecifiedMatching +DOID:3973 medullary thyroid carcinoma oboInOwl:hasDbXref ICDO:8345/3 semapv:UnspecifiedMatching +DOID:3973 medullary thyroid carcinoma oboInOwl:hasDbXref MESH:C536914 semapv:UnspecifiedMatching +DOID:3973 medullary thyroid carcinoma oboInOwl:hasDbXref NCI:C3879 semapv:UnspecifiedMatching +DOID:3973 medullary thyroid carcinoma oboInOwl:hasDbXref UMLS:C0238462 semapv:UnspecifiedMatching DOID:3978 extrinsic cardiomyopathy oboInOwl:hasDbXref ICD9CM:425.8 semapv:UnspecifiedMatching DOID:3978 extrinsic cardiomyopathy oboInOwl:hasDbXref UMLS:C0155699 semapv:UnspecifiedMatching DOID:3981 pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref GARD:6564 semapv:UnspecifiedMatching @@ -33212,9 +33319,9 @@ DOID:591 phobic disorder oboInOwl:hasDbXref NCI:C35420 semapv:UnspecifiedMatchin DOID:591 phobic disorder oboInOwl:hasDbXref UMLS:C0349231 semapv:UnspecifiedMatching DOID:5913 brachial plexus neoplasm oboInOwl:hasDbXref NCI:C5823 semapv:UnspecifiedMatching DOID:5913 brachial plexus neoplasm oboInOwl:hasDbXref UMLS:C1332602 semapv:UnspecifiedMatching -DOID:5914 nonencapsulated sclerosing carcinoma oboInOwl:hasDbXref ICDO:8350/3 semapv:UnspecifiedMatching -DOID:5914 nonencapsulated sclerosing carcinoma oboInOwl:hasDbXref NCI:C7427 semapv:UnspecifiedMatching -DOID:5914 nonencapsulated sclerosing carcinoma oboInOwl:hasDbXref UMLS:C0334330 semapv:UnspecifiedMatching +DOID:5914 diffuse sclerosing papillary thyroid carcinoma oboInOwl:hasDbXref ICDO:8350/3 semapv:UnspecifiedMatching +DOID:5914 diffuse sclerosing papillary thyroid carcinoma oboInOwl:hasDbXref NCI:C7427 semapv:UnspecifiedMatching +DOID:5914 diffuse sclerosing papillary thyroid carcinoma oboInOwl:hasDbXref UMLS:C0334330 semapv:UnspecifiedMatching DOID:5916 uterine corpus leiomyomatosis oboInOwl:hasDbXref NCI:C40170 semapv:UnspecifiedMatching DOID:5916 uterine corpus leiomyomatosis oboInOwl:hasDbXref UMLS:C1519855 semapv:UnspecifiedMatching DOID:5921 adult brainstem mixed glioma oboInOwl:hasDbXref NCI:C9371 semapv:UnspecifiedMatching @@ -34535,10 +34642,11 @@ DOID:7081 lung mixed small cell and squamous cell carcinoma oboInOwl:hasDbXref N DOID:7081 lung mixed small cell and squamous cell carcinoma oboInOwl:hasDbXref UMLS:C1334788 semapv:UnspecifiedMatching DOID:7086 multicentric papillary thyroid carcinoma oboInOwl:hasDbXref NCI:C37304 semapv:UnspecifiedMatching DOID:7086 multicentric papillary thyroid carcinoma oboInOwl:hasDbXref UMLS:C1334817 semapv:UnspecifiedMatching -DOID:7088 columnar cell variant papillary carcinoma oboInOwl:hasDbXref NCI:C35830 semapv:UnspecifiedMatching -DOID:7088 columnar cell variant papillary carcinoma oboInOwl:hasDbXref UMLS:C1333120 semapv:UnspecifiedMatching -DOID:7089 tall cell variant papillary carcinoma oboInOwl:hasDbXref NCI:C35558 semapv:UnspecifiedMatching -DOID:7089 tall cell variant papillary carcinoma oboInOwl:hasDbXref UMLS:C1336695 semapv:UnspecifiedMatching +DOID:7088 columnar cell papillary thyroid carcinoma oboInOwl:hasDbXref ICDO:8344/3 semapv:UnspecifiedMatching +DOID:7088 columnar cell papillary thyroid carcinoma oboInOwl:hasDbXref NCI:C35830 semapv:UnspecifiedMatching +DOID:7088 columnar cell papillary thyroid carcinoma oboInOwl:hasDbXref UMLS:C1333120 semapv:UnspecifiedMatching +DOID:7089 tall cell papillary thyroid carcinoma oboInOwl:hasDbXref NCI:C35558 semapv:UnspecifiedMatching +DOID:7089 tall cell papillary thyroid carcinoma oboInOwl:hasDbXref UMLS:C1336695 semapv:UnspecifiedMatching DOID:709 splenic manifestation of hairy cell leukemia oboInOwl:hasDbXref ICD9CM:202.47 semapv:UnspecifiedMatching DOID:709 splenic manifestation of hairy cell leukemia oboInOwl:hasDbXref NCI:C7301 semapv:UnspecifiedMatching DOID:709 splenic manifestation of hairy cell leukemia oboInOwl:hasDbXref UMLS:C0153832 semapv:UnspecifiedMatching @@ -35575,11 +35683,12 @@ DOID:8158 complement component 5 deficiency oboInOwl:hasDbXref NCI:C9469 semapv: DOID:8158 complement component 5 deficiency oboInOwl:hasDbXref OMIM:609536 semapv:UnspecifiedMatching DOID:8158 complement component 5 deficiency oboInOwl:hasDbXref ORDO:169150 semapv:UnspecifiedMatching DOID:8158 complement component 5 deficiency skos:exactMatch OMIM:609536 semapv:UnspecifiedMatching -DOID:8161 thyroid gland Hurthle cell carcinoma oboInOwl:hasDbXref MESH:C536913 semapv:UnspecifiedMatching -DOID:8161 thyroid gland Hurthle cell carcinoma oboInOwl:hasDbXref NCI:C4946 semapv:UnspecifiedMatching -DOID:8161 thyroid gland Hurthle cell carcinoma oboInOwl:hasDbXref OMIM:607464 semapv:UnspecifiedMatching -DOID:8161 thyroid gland Hurthle cell carcinoma oboInOwl:hasDbXref UMLS:C0749424 semapv:UnspecifiedMatching -DOID:8161 thyroid gland Hurthle cell carcinoma skos:exactMatch OMIM:607464 semapv:UnspecifiedMatching +DOID:8161 oncocytic carcinoma of the thyroid oboInOwl:hasDbXref ICDO:8290/3 semapv:UnspecifiedMatching +DOID:8161 oncocytic carcinoma of the thyroid oboInOwl:hasDbXref MESH:C536913 semapv:UnspecifiedMatching +DOID:8161 oncocytic carcinoma of the thyroid oboInOwl:hasDbXref NCI:C4946 semapv:UnspecifiedMatching +DOID:8161 oncocytic carcinoma of the thyroid oboInOwl:hasDbXref OMIM:607464 semapv:UnspecifiedMatching +DOID:8161 oncocytic carcinoma of the thyroid oboInOwl:hasDbXref UMLS:C0749424 semapv:UnspecifiedMatching +DOID:8161 oncocytic carcinoma of the thyroid skos:exactMatch OMIM:607464 semapv:UnspecifiedMatching DOID:8162 thyroid Hurthle cell adenoma oboInOwl:hasDbXref NCI:C6042 semapv:UnspecifiedMatching DOID:8162 thyroid Hurthle cell adenoma oboInOwl:hasDbXref UMLS:C1336750 semapv:UnspecifiedMatching DOID:8167 gallbladder melanoma oboInOwl:hasDbXref NCI:C5735 semapv:UnspecifiedMatching diff --git a/src/mappings/gard.sssom.tsv b/src/mappings/gard.sssom.tsv index 770fdc9b..9e5fa0e5 100644 --- a/src/mappings/gard.sssom.tsv +++ b/src/mappings/gard.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/18a2a727-f8e9-4de0-a2b8-92b9b138283a +# mapping_set_id: https://w3id.org/sssom/mappings/9dd26771-5ba5-4418-8f4f-19d386c68406 subject_id subject_label predicate_id object_id mapping_justification obo:GARD_1 GRACILE syndrome skos:exactMatch Orphanet:53693 semapv:UnspecifiedMatching obo:GARD_1 GRACILE syndrome skos:narrowMatch OMIM:603358 semapv:UnspecifiedMatching diff --git a/src/mappings/icd10cm.sssom.tsv b/src/mappings/icd10cm.sssom.tsv index bbd23a39..1d5062cc 100644 --- a/src/mappings/icd10cm.sssom.tsv +++ b/src/mappings/icd10cm.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/a9e1be86-294e-4f17-9448-08eb7f330f6c +# mapping_set_id: https://w3id.org/sssom/mappings/9a649611-8df0-4ef7-91a8-cb5dd6db0b97 diff --git a/src/mappings/icd10who.sssom.tsv b/src/mappings/icd10who.sssom.tsv index 6005796c..2210c19d 100644 --- a/src/mappings/icd10who.sssom.tsv +++ b/src/mappings/icd10who.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/4d854045-d67f-457f-be67-ba31b65c9ae4 +# mapping_set_id: https://w3id.org/sssom/mappings/5ba0b266-8d34-4f39-9853-f54319ccadfd diff --git a/src/mappings/icd11foundation.sssom.tsv b/src/mappings/icd11foundation.sssom.tsv index d96573ba..d2097bb0 100644 --- a/src/mappings/icd11foundation.sssom.tsv +++ b/src/mappings/icd11foundation.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/0a2f69eb-b2de-4d98-98c4-7364ff97a7cf +# mapping_set_id: https://w3id.org/sssom/mappings/09ae0647-5235-40e0-a756-52d7765a0ff2 diff --git a/src/mappings/mondo-nando.sssom.tsv b/src/mappings/mondo-nando.sssom.tsv index 463ea11c..6a255451 100644 --- a/src/mappings/mondo-nando.sssom.tsv +++ b/src/mappings/mondo-nando.sssom.tsv @@ -15,7 +15,7 @@ # mapping_provider: MONDO:NANDO # mapping_set_description: This mapping set is manually curated by the NANDO team at # nanbyodata.jp. -# mapping_set_id: https://w3id.org/sssom/mappings/16419892-02de-4b09-8e42-71d04ee7c6e1 +# mapping_set_id: https://w3id.org/sssom/mappings/f9270929-4f75-4a21-b45a-1587ebd7b15f # mapping_set_title: NANDO - Mondo mappings provided by nanbyodata.jp subject_id subject_label predicate_id object_id object_label mapping_justification MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch NANDO:2200317 Congenital growth hormone deficiency semapv:MappingInversion diff --git a/src/mappings/ncit.sssom.tsv b/src/mappings/ncit.sssom.tsv index 97bb8a87..2985a7cd 100644 --- a/src/mappings/ncit.sssom.tsv +++ b/src/mappings/ncit.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/574a0bf3-f0df-4a09-aa25-df661df78c48 +# mapping_set_id: https://w3id.org/sssom/mappings/e7d4783a-9187-4985-a3c1-c143f119243b subject_id subject_label predicate_id object_id mapping_justification NCIT:C103222 Popliteal Fossa oboInOwl:hasDbXref UBERON:0013069 semapv:UnspecifiedMatching NCIT:C103384 Common Iliac Lymph Node oboInOwl:hasDbXref UBERON:0015878 semapv:UnspecifiedMatching diff --git a/src/mappings/omim.sssom.tsv b/src/mappings/omim.sssom.tsv index 508d1457..c8cc02ca 100644 --- a/src/mappings/omim.sssom.tsv +++ b/src/mappings/omim.sssom.tsv @@ -4292,7 +4292,7 @@ MONDO:0011418 skos:exactMatch OMIM:604254 dyslexia, susceptibility to, 3 semapv MONDO:0011419 skos:exactMatch OMIM:604257 camera-marugo-cohen syndrome semapv:UnspecifiedMatching MONDO:0011420 skos:exactMatch OMIM:604271 growth hormone insensitivity, partial semapv:UnspecifiedMatching MONDO:0011421 skos:exactMatch OMIM:604273 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 1 semapv:UnspecifiedMatching -MONDO:0011422 skos:exactMatch OMIM:604278 renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development semapv:UnspecifiedMatching +MONDO:0011422 skos:exactMatch OMIM:604278 proximal renal tubular acidosis-ocular anomaly syndrome semapv:UnspecifiedMatching MONDO:0011423 skos:exactMatch OMIM:604286 muscular dystrophy, limb-girdle, autosomal recessive 4 semapv:UnspecifiedMatching MONDO:0011424 skos:exactMatch OMIM:604287 carney triad semapv:UnspecifiedMatching MONDO:0011425 skos:exactMatch OMIM:604288 cardiomyopathy, dilated, 1h semapv:UnspecifiedMatching @@ -38695,7 +38695,7 @@ OMIM:604276 PKP4 skos:exactMatch ncbigene:8502 semapv:UnspecifiedMatching OMIM:604277 SPAST skos:exactMatch hgnc.symbol:11233 semapv:UnspecifiedMatching OMIM:604277 SPAST skos:exactMatch hgnc.symbol:SPAST semapv:UnspecifiedMatching OMIM:604277 SPAST skos:exactMatch ncbigene:6683 semapv:UnspecifiedMatching -OMIM:604278 renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development skos:exactMatch MONDO:0011422 semapv:UnspecifiedMatching +OMIM:604278 proximal renal tubular acidosis-ocular anomaly syndrome skos:exactMatch MONDO:0011422 semapv:UnspecifiedMatching OMIM:604279 JMY skos:exactMatch hgnc.symbol:28916 semapv:UnspecifiedMatching OMIM:604279 JMY skos:exactMatch hgnc.symbol:JMY semapv:UnspecifiedMatching OMIM:604279 JMY skos:exactMatch ncbigene:133746 semapv:UnspecifiedMatching @@ -80449,6 +80449,45 @@ OMIM:620846 NTAQ1 skos:exactMatch ncbigene:55093 semapv:UnspecifiedMatching OMIM:620847 BMP8A skos:exactMatch hgnc.symbol:21650 semapv:UnspecifiedMatching OMIM:620847 BMP8A skos:exactMatch hgnc.symbol:BMP8A semapv:UnspecifiedMatching OMIM:620847 BMP8A skos:exactMatch ncbigene:353500 semapv:UnspecifiedMatching +OMIM:620853 ANKFN1 skos:exactMatch hgnc.symbol:26766 semapv:UnspecifiedMatching +OMIM:620853 ANKFN1 skos:exactMatch hgnc.symbol:ANKFN1 semapv:UnspecifiedMatching +OMIM:620853 ANKFN1 skos:exactMatch ncbigene:162282 semapv:UnspecifiedMatching +OMIM:620855 GPR155 skos:exactMatch hgnc.symbol:22951 semapv:UnspecifiedMatching +OMIM:620855 GPR155 skos:exactMatch hgnc.symbol:GPR155 semapv:UnspecifiedMatching +OMIM:620855 GPR155 skos:exactMatch ncbigene:151556 semapv:UnspecifiedMatching +OMIM:620856 FABP9 skos:exactMatch hgnc.symbol:3563 semapv:UnspecifiedMatching +OMIM:620856 FABP9 skos:exactMatch hgnc.symbol:FABP9 semapv:UnspecifiedMatching +OMIM:620856 FABP9 skos:exactMatch ncbigene:646480 semapv:UnspecifiedMatching +OMIM:620857 ANKRD33 skos:exactMatch hgnc.symbol:13788 semapv:UnspecifiedMatching +OMIM:620857 ANKRD33 skos:exactMatch hgnc.symbol:ANKRD33 semapv:UnspecifiedMatching +OMIM:620857 ANKRD33 skos:exactMatch ncbigene:341405 semapv:UnspecifiedMatching +OMIM:620858 ERICH2 skos:exactMatch hgnc.symbol:44395 semapv:UnspecifiedMatching +OMIM:620858 ERICH2 skos:exactMatch hgnc.symbol:ERICH2 semapv:UnspecifiedMatching +OMIM:620858 ERICH2 skos:exactMatch ncbigene:285141 semapv:UnspecifiedMatching +OMIM:620859 EXD3 skos:exactMatch hgnc.symbol:26023 semapv:UnspecifiedMatching +OMIM:620859 EXD3 skos:exactMatch hgnc.symbol:EXD3 semapv:UnspecifiedMatching +OMIM:620859 EXD3 skos:exactMatch ncbigene:54932 semapv:UnspecifiedMatching +OMIM:620860 GPR157 skos:exactMatch hgnc.symbol:23687 semapv:UnspecifiedMatching +OMIM:620860 GPR157 skos:exactMatch hgnc.symbol:GPR157 semapv:UnspecifiedMatching +OMIM:620860 GPR157 skos:exactMatch ncbigene:80045 semapv:UnspecifiedMatching +OMIM:620861 ANKRD44 skos:exactMatch hgnc.symbol:25259 semapv:UnspecifiedMatching +OMIM:620861 ANKRD44 skos:exactMatch hgnc.symbol:ANKRD44 semapv:UnspecifiedMatching +OMIM:620861 ANKRD44 skos:exactMatch ncbigene:91526 semapv:UnspecifiedMatching +OMIM:620862 ANKRD52 skos:exactMatch hgnc.symbol:26614 semapv:UnspecifiedMatching +OMIM:620862 ANKRD52 skos:exactMatch hgnc.symbol:ANKRD52 semapv:UnspecifiedMatching +OMIM:620862 ANKRD52 skos:exactMatch ncbigene:283373 semapv:UnspecifiedMatching +OMIM:620863 AMDHD1 skos:exactMatch hgnc.symbol:28577 semapv:UnspecifiedMatching +OMIM:620863 AMDHD1 skos:exactMatch hgnc.symbol:AMDHD1 semapv:UnspecifiedMatching +OMIM:620863 AMDHD1 skos:exactMatch ncbigene:144193 semapv:UnspecifiedMatching +OMIM:620864 AMDHD2 skos:exactMatch hgnc.symbol:24262 semapv:UnspecifiedMatching +OMIM:620864 AMDHD2 skos:exactMatch hgnc.symbol:AMDHD2 semapv:UnspecifiedMatching +OMIM:620864 AMDHD2 skos:exactMatch ncbigene:51005 semapv:UnspecifiedMatching +OMIM:620866 ERICH3 skos:exactMatch hgnc.symbol:25346 semapv:UnspecifiedMatching +OMIM:620866 ERICH3 skos:exactMatch hgnc.symbol:ERICH3 semapv:UnspecifiedMatching +OMIM:620866 ERICH3 skos:exactMatch ncbigene:127254 semapv:UnspecifiedMatching +OMIM:620868 ARID3C skos:exactMatch hgnc.symbol:21209 semapv:UnspecifiedMatching +OMIM:620868 ARID3C skos:exactMatch hgnc.symbol:ARID3C semapv:UnspecifiedMatching +OMIM:620868 ARID3C skos:exactMatch ncbigene:138715 semapv:UnspecifiedMatching omim.ps:100070 Aortic aneurysm, familial abdominal skos:exactMatch MONDO:0007031 semapv:UnspecifiedMatching omim.ps:100300 Adams-Oliver syndrome skos:exactMatch MONDO:0007034 semapv:UnspecifiedMatching omim.ps:101800 Acrodysostosis skos:exactMatch MONDO:0019797 semapv:UnspecifiedMatching diff --git a/src/mappings/ordo.sssom.tsv b/src/mappings/ordo.sssom.tsv index 5611c428..0010d100 100644 --- a/src/mappings/ordo.sssom.tsv +++ b/src/mappings/ordo.sssom.tsv @@ -98,19 +98,20 @@ Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F oboInOwl:hasDbXr Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F oboInOwl:hasDbXref UMLS:C4274989 semapv:UnspecifiedMatching Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching -Orphanet:100019 Refractory anemia with excess blasts type 1 oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching -Orphanet:100019 Refractory anemia with excess blasts type 1 oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching -Orphanet:100019 Refractory anemia with excess blasts type 1 oboInOwl:hasDbXref UMLS:C1318550 semapv:UnspecifiedMatching -Orphanet:100019 Refractory anemia with excess blasts type 1 oboInOwl:hasDbXref icd11:2A35 semapv:UnspecifiedMatching -Orphanet:100020 Refractory anemia with excess blasts type 2 oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching -Orphanet:100020 Refractory anemia with excess blasts type 2 oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching -Orphanet:100020 Refractory anemia with excess blasts type 2 oboInOwl:hasDbXref UMLS:C1318551 semapv:UnspecifiedMatching -Orphanet:100020 Refractory anemia with excess blasts type 2 oboInOwl:hasDbXref icd11:2A35 semapv:UnspecifiedMatching +Orphanet:100019 Myelodysplastic neoplasm with increased blasts type 1 oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching +Orphanet:100019 Myelodysplastic neoplasm with increased blasts type 1 oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching +Orphanet:100019 Myelodysplastic neoplasm with increased blasts type 1 oboInOwl:hasDbXref UMLS:C1318550 semapv:UnspecifiedMatching +Orphanet:100019 Myelodysplastic neoplasm with increased blasts type 1 oboInOwl:hasDbXref icd11:2A35 semapv:UnspecifiedMatching +Orphanet:100020 Myelodysplastic neoplasm with increased blasts type 2 oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching +Orphanet:100020 Myelodysplastic neoplasm with increased blasts type 2 oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching +Orphanet:100020 Myelodysplastic neoplasm with increased blasts type 2 oboInOwl:hasDbXref UMLS:C1318551 semapv:UnspecifiedMatching +Orphanet:100020 Myelodysplastic neoplasm with increased blasts type 2 oboInOwl:hasDbXref icd11:2A35 semapv:UnspecifiedMatching Orphanet:100021 Primary plasmacytoma of the bone oboInOwl:hasDbXref ICD10:C90.3 semapv:UnspecifiedMatching Orphanet:100021 Primary plasmacytoma of the bone oboInOwl:hasDbXref ICD10:C90.3 semapv:UnspecifiedMatching Orphanet:100021 Primary plasmacytoma of the bone oboInOwl:hasDbXref icd11:2A83.2 semapv:UnspecifiedMatching Orphanet:100022 Extramedullary soft tissue plasmacytoma oboInOwl:hasDbXref ICD10:C90.2 semapv:UnspecifiedMatching Orphanet:100022 Extramedullary soft tissue plasmacytoma oboInOwl:hasDbXref ICD10:C90.2 semapv:UnspecifiedMatching +Orphanet:100022 Extramedullary soft tissue plasmacytoma oboInOwl:hasDbXref UMLS:C2211567 semapv:UnspecifiedMatching Orphanet:100022 Extramedullary soft tissue plasmacytoma oboInOwl:hasDbXref icd11:2A83.2 semapv:UnspecifiedMatching Orphanet:100024 Mu-heavy chain disease oboInOwl:hasDbXref ICD10:C88.2 semapv:UnspecifiedMatching Orphanet:100024 Mu-heavy chain disease oboInOwl:hasDbXref ICD10:C88.2 semapv:UnspecifiedMatching @@ -168,8 +169,6 @@ Orphanet:100035 Solitary necrotic nodule of the liver oboInOwl:hasDbXref ICD10:D Orphanet:100035 Solitary necrotic nodule of the liver oboInOwl:hasDbXref ICD10:D13.4 semapv:UnspecifiedMatching Orphanet:100035 Solitary necrotic nodule of the liver oboInOwl:hasDbXref UMLS:C2960192 semapv:UnspecifiedMatching Orphanet:100035 Solitary necrotic nodule of the liver oboInOwl:hasDbXref icd11:DB99.Y semapv:UnspecifiedMatching -Orphanet:100039 Familial pseudohyperkalemia type 1 oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching -Orphanet:100039 Familial pseudohyperkalemia type 1 oboInOwl:hasDbXref ICD10:D58.8 semapv:UnspecifiedMatching Orphanet:100039 Familial pseudohyperkalemia type 1 oboInOwl:hasDbXref OMIM:177720 semapv:UnspecifiedMatching Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching @@ -236,7 +235,6 @@ Orphanet:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref ICD10:E35.1* Orphanet:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref ICD10:E35.1* semapv:UnspecifiedMatching Orphanet:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref MESH:D014884 semapv:UnspecifiedMatching Orphanet:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref MedDRA:10047847 semapv:UnspecifiedMatching -Orphanet:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref UMLS:C0043068 semapv:UnspecifiedMatching Orphanet:100067 Waterhouse-Friderichsen syndrome oboInOwl:hasDbXref icd11:1C1C.1 semapv:UnspecifiedMatching Orphanet:100069 Semantic dementia oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching Orphanet:100069 Semantic dementia oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching @@ -256,6 +254,7 @@ Orphanet:100070 Progressive non-fluent aphasia oboInOwl:hasDbXref icd11:6D83 sem Orphanet:100071 Mosaic trisomy 3 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:100071 Mosaic trisomy 3 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:100071 Mosaic trisomy 3 oboInOwl:hasDbXref UMLS:C4707012 semapv:UnspecifiedMatching +Orphanet:100071 Mosaic trisomy 3 oboInOwl:hasDbXref icd11:LD40.Y semapv:UnspecifiedMatching Orphanet:100073 Neurogenic thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching Orphanet:100073 Neurogenic thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching Orphanet:100073 Neurogenic thoracic outlet syndrome oboInOwl:hasDbXref UMLS:C0751549 semapv:UnspecifiedMatching @@ -320,6 +319,7 @@ Orphanet:1001 2q37 microdeletion syndrome oboInOwl:hasDbXref OMIM:600430 semapv: Orphanet:1001 2q37 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2931817 semapv:UnspecifiedMatching Orphanet:1001 2q37 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.20 semapv:UnspecifiedMatching Orphanet:100100 Thymic tumor oboInOwl:hasDbXref MESH:D013953 semapv:UnspecifiedMatching +Orphanet:100100 Thymic tumor oboInOwl:hasDbXref MedDRA:10056296 semapv:UnspecifiedMatching Orphanet:100100 Thymic tumor oboInOwl:hasDbXref UMLS:C3714644 semapv:UnspecifiedMatching Orphanet:100101 Neuroendocrine tumor with other location oboInOwl:hasDbXref UMLS:C5681808 semapv:UnspecifiedMatching Orphanet:1002 NON RARE IN EUROPE: Cluster headache oboInOwl:hasDbXref ICD10:G44.0 semapv:UnspecifiedMatching @@ -338,8 +338,6 @@ Orphanet:1005 Alopecia-contractures-dwarfism-intellectual disability syndrome ob Orphanet:1006 Alopecia antibody deficiency oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching Orphanet:1006 Alopecia antibody deficiency oboInOwl:hasDbXref ICD10:D80.8 semapv:UnspecifiedMatching Orphanet:1006 Alopecia antibody deficiency oboInOwl:hasDbXref UMLS:C5190867 semapv:UnspecifiedMatching -Orphanet:100642 NON RARE IN EUROPE: Gonorrhea oboInOwl:hasDbXref ICD10:A54.9 semapv:UnspecifiedMatching -Orphanet:100642 NON RARE IN EUROPE: Gonorrhea oboInOwl:hasDbXref ICD10:A54.9 semapv:UnspecifiedMatching Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537057 semapv:UnspecifiedMatching @@ -397,6 +395,7 @@ Orphanet:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref Orphanet:100988 Autosomal dominant spastic paraplegia type 6 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching Orphanet:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching +Orphanet:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref MESH:C580458 semapv:UnspecifiedMatching Orphanet:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref OMIM:603563 semapv:UnspecifiedMatching Orphanet:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref UMLS:C1863704 semapv:UnspecifiedMatching Orphanet:100989 Autosomal dominant spastic paraplegia type 8 oboInOwl:hasDbXref icd11:8B44.00 semapv:UnspecifiedMatching @@ -543,9 +542,6 @@ Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:616247 semapv:Unspe Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref OMIM:616249 semapv:UnspecifiedMatching Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref UMLS:C4551647 semapv:UnspecifiedMatching Orphanet:101016 Romano-Ward syndrome oboInOwl:hasDbXref icd11:BC65.0 semapv:UnspecifiedMatching -Orphanet:101022 Mediterranean macrothrombocytopenia oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching -Orphanet:101022 Mediterranean macrothrombocytopenia oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching -Orphanet:101022 Mediterranean macrothrombocytopenia oboInOwl:hasDbXref OMIM:210250 semapv:UnspecifiedMatching Orphanet:101022 Mediterranean macrothrombocytopenia oboInOwl:hasDbXref UMLS:C0272281 semapv:UnspecifiedMatching Orphanet:101023 Cleft hard palate oboInOwl:hasDbXref ICD10:Q35.1 semapv:UnspecifiedMatching Orphanet:101023 Cleft hard palate oboInOwl:hasDbXref ICD10:Q35.1 semapv:UnspecifiedMatching @@ -699,10 +695,6 @@ Orphanet:101092 Hyper-IgM syndrome type 5 oboInOwl:hasDbXref ICD10:D80.5 semapv: Orphanet:101092 Hyper-IgM syndrome type 5 oboInOwl:hasDbXref OMIM:608106 semapv:UnspecifiedMatching Orphanet:101092 Hyper-IgM syndrome type 5 oboInOwl:hasDbXref UMLS:C1720958 semapv:UnspecifiedMatching Orphanet:101092 Hyper-IgM syndrome type 5 oboInOwl:hasDbXref icd11:4A01.05 semapv:UnspecifiedMatching -Orphanet:101096 Aregenerative anemia oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching -Orphanet:101096 Aregenerative anemia oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching -Orphanet:101096 Aregenerative anemia oboInOwl:hasDbXref MedDRA:10054329 semapv:UnspecifiedMatching -Orphanet:101096 Aregenerative anemia oboInOwl:hasDbXref UMLS:C0553669 semapv:UnspecifiedMatching Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness oboInOwl:hasDbXref MESH:C535418 semapv:UnspecifiedMatching @@ -728,10 +720,7 @@ Orphanet:101104 Marin-Amat syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:Unspec Orphanet:101104 Marin-Amat syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:101104 Marin-Amat syndrome oboInOwl:hasDbXref UMLS:C5681802 semapv:UnspecifiedMatching Orphanet:101104 Marin-Amat syndrome oboInOwl:hasDbXref icd11:9A03.00 semapv:UnspecifiedMatching -Orphanet:101107 Spinocerebellar ataxia type 22 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -Orphanet:101107 Spinocerebellar ataxia type 22 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:101107 Spinocerebellar ataxia type 22 oboInOwl:hasDbXref MESH:C542540 semapv:UnspecifiedMatching -Orphanet:101107 Spinocerebellar ataxia type 22 oboInOwl:hasDbXref OMIM:607346 semapv:UnspecifiedMatching Orphanet:101107 Spinocerebellar ataxia type 22 oboInOwl:hasDbXref UMLS:C2746067 semapv:UnspecifiedMatching Orphanet:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:101108 Spinocerebellar ataxia type 23 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching @@ -769,8 +758,6 @@ Orphanet:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref Orphanet:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref OMIM:605407 semapv:UnspecifiedMatching Orphanet:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref UMLS:C2673535 semapv:UnspecifiedMatching Orphanet:101150 Autosomal recessive dopa-responsive dystonia oboInOwl:hasDbXref icd11:8A02.11 semapv:UnspecifiedMatching -Orphanet:101151 Dystonia 14 oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -Orphanet:101151 Dystonia 14 oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching Orphanet:101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome oboInOwl:hasDbXref ICD10:Q22.2 semapv:UnspecifiedMatching Orphanet:101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome oboInOwl:hasDbXref ICD10:Q22.2 semapv:UnspecifiedMatching Orphanet:101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome oboInOwl:hasDbXref UMLS:C4707896 semapv:UnspecifiedMatching @@ -810,10 +797,8 @@ Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis oboInOwl:hasDbXref Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis oboInOwl:hasDbXref OMIM:150700 semapv:UnspecifiedMatching Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis oboInOwl:hasDbXref OMIM:308940 semapv:UnspecifiedMatching +Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis oboInOwl:hasDbXref UMLS:C4511693 semapv:UnspecifiedMatching Orphanet:1018 X-linked Alport syndrome-diffuse leiomyomatosis oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching -Orphanet:1019 Epstein syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -Orphanet:1019 Epstein syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -Orphanet:1019 Epstein syndrome oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching Orphanet:1019 Epstein syndrome oboInOwl:hasDbXref UMLS:C0398641 semapv:UnspecifiedMatching Orphanet:101932 Anomaly of the mitral subvalvular apparatus oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching Orphanet:101932 Anomaly of the mitral subvalvular apparatus oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching @@ -829,7 +814,7 @@ Orphanet:101940 Rare metabolic liver disease oboInOwl:hasDbXref UMLS:C5681784 se Orphanet:101941 Rare biliary tract disease oboInOwl:hasDbXref UMLS:C5681785 semapv:UnspecifiedMatching Orphanet:101943 Rare hepatic and biliary tract tumor oboInOwl:hasDbXref UMLS:C5681783 semapv:UnspecifiedMatching Orphanet:101944 Rare pulmonary disease oboInOwl:hasDbXref UMLS:C5681796 semapv:UnspecifiedMatching -Orphanet:101945 Rare bronchopulmonary tumor oboInOwl:hasDbXref UMLS:C5681795 semapv:UnspecifiedMatching +Orphanet:101945 Rare bronchopulmonary and pleural cavity tumors oboInOwl:hasDbXref UMLS:C5681795 semapv:UnspecifiedMatching Orphanet:101950 Rare eye tumor oboInOwl:hasDbXref UMLS:C5681794 semapv:UnspecifiedMatching Orphanet:101952 Rare diabetes mellitus oboInOwl:hasDbXref UMLS:C5681799 semapv:UnspecifiedMatching Orphanet:101953 Rare dyslipidemia oboInOwl:hasDbXref UMLS:C5681798 semapv:UnspecifiedMatching @@ -851,9 +836,9 @@ Orphanet:101972 Combined T and B cell immunodeficiency oboInOwl:hasDbXref icd11: Orphanet:101977 Immunodeficiency predominantly affecting antibody production oboInOwl:hasDbXref UMLS:C5681776 semapv:UnspecifiedMatching Orphanet:101977 Immunodeficiency predominantly affecting antibody production oboInOwl:hasDbXref icd11:4A01.0 semapv:UnspecifiedMatching Orphanet:101985 Quantitative and/or qualitative congenital phagocyte defect oboInOwl:hasDbXref UMLS:C5681777 semapv:UnspecifiedMatching -Orphanet:101987 Constitutional neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -Orphanet:101987 Constitutional neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -Orphanet:101987 Constitutional neutropenia oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching +Orphanet:101987 Congenital neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:101987 Congenital neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:101987 Congenital neutropenia oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity oboInOwl:hasDbXref UMLS:C5681778 semapv:UnspecifiedMatching Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity oboInOwl:hasDbXref icd11:4A00 semapv:UnspecifiedMatching Orphanet:101992 Immunodeficiency due to a complement cascade protein anomaly oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching @@ -907,6 +892,7 @@ Orphanet:102011 Lissencephaly type 3 oboInOwl:hasDbXref MESH:C566908 semapv:Unsp Orphanet:102011 Lissencephaly type 3 oboInOwl:hasDbXref UMLS:C1969029 semapv:UnspecifiedMatching Orphanet:102011 Lissencephaly type 3 oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:102012 Pure hereditary spastic paraplegia oboInOwl:hasDbXref UMLS:C0393555 semapv:UnspecifiedMatching +Orphanet:102013 Complex hereditary spastic paraplegia oboInOwl:hasDbXref UMLS:C0393556 semapv:UnspecifiedMatching Orphanet:102014 Autosomal dominant limb-girdle muscular dystrophy oboInOwl:hasDbXref UMLS:C5675009 semapv:UnspecifiedMatching Orphanet:102014 Autosomal dominant limb-girdle muscular dystrophy oboInOwl:hasDbXref icd11:8C70.40 semapv:UnspecifiedMatching Orphanet:102015 Autosomal recessive limb-girdle muscular dystrophy oboInOwl:hasDbXref MESH:C538640 semapv:UnspecifiedMatching @@ -974,7 +960,6 @@ Orphanet:1035 Beta-mercaptolactate cysteine disulfiduria oboInOwl:hasDbXref UMLS Orphanet:1037 Arthrogryposis multiplex congenita oboInOwl:hasDbXref ICD10:Q74.3 semapv:UnspecifiedMatching Orphanet:1037 Arthrogryposis multiplex congenita oboInOwl:hasDbXref ICD10:Q74.3 semapv:UnspecifiedMatching Orphanet:1037 Arthrogryposis multiplex congenita oboInOwl:hasDbXref MedDRA:10051643 semapv:UnspecifiedMatching -Orphanet:1037 Arthrogryposis multiplex congenita oboInOwl:hasDbXref UMLS:C0003886 semapv:UnspecifiedMatching Orphanet:1037 Arthrogryposis multiplex congenita oboInOwl:hasDbXref icd11:LD26.41 semapv:UnspecifiedMatching Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency oboInOwl:hasDbXref ICD10:E74.3 semapv:UnspecifiedMatching Orphanet:103907 Chronic diarrhea due to glucoamylase deficiency oboInOwl:hasDbXref ICD10:E74.3 semapv:UnspecifiedMatching @@ -1125,7 +1110,6 @@ Orphanet:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref ICD10:Q28 Orphanet:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching Orphanet:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref MESH:C536535 semapv:UnspecifiedMatching Orphanet:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref MedDRA:10077889 semapv:UnspecifiedMatching -Orphanet:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref OMIM:618196 semapv:UnspecifiedMatching Orphanet:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref UMLS:C0431420 semapv:UnspecifiedMatching Orphanet:1053 Vein of Galen aneurysmal malformation oboInOwl:hasDbXref icd11:LA90.20 semapv:UnspecifiedMatching Orphanet:1054 Aneurysm of sinus of Valsalva oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching @@ -1203,10 +1187,10 @@ Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome oboInOwl:h Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome oboInOwl:hasDbXref OMIM:106250 semapv:UnspecifiedMatching Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome oboInOwl:hasDbXref UMLS:C1862866 semapv:UnspecifiedMatching -Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome oboInOwl:hasDbXref UMLS:C4751231 semapv:UnspecifiedMatching Orphanet:1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:1077 Dental ankylosis oboInOwl:hasDbXref ICD10:K03.5 semapv:UnspecifiedMatching Orphanet:1077 Dental ankylosis oboInOwl:hasDbXref ICD10:K03.5 semapv:UnspecifiedMatching @@ -1444,6 +1428,7 @@ Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome oboInOwl:hasDbXre Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome oboInOwl:hasDbXref OMIM:603457 semapv:UnspecifiedMatching Orphanet:1135 Arrhinia-choanal atresia-microphthalmia syndrome oboInOwl:hasDbXref UMLS:C1863878 semapv:UnspecifiedMatching +Orphanet:1138 Abnormal origin of the pulmonary artery oboInOwl:hasDbXref UMLS:C0265912 semapv:UnspecifiedMatching Orphanet:1138 Abnormal origin of the pulmonary artery oboInOwl:hasDbXref icd11:LA8B.1 semapv:UnspecifiedMatching Orphanet:114 Auriculoosteodysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:114 Auriculoosteodysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching @@ -1905,12 +1890,12 @@ Orphanet:118010 protein kinase cAMP-dependent type I regulatory subunit alpha ob Orphanet:118014 protein kinase C gamma oboInOwl:hasDbXref ENSEMBL:ENSG00000126583 semapv:UnspecifiedMatching Orphanet:118014 protein kinase C gamma oboInOwl:hasDbXref OMIM:176980 semapv:UnspecifiedMatching Orphanet:118014 protein kinase C gamma oboInOwl:hasDbXref uniprot:P05129 semapv:UnspecifiedMatching -Orphanet:118020 protein kinase C substrate 80K-H oboInOwl:hasDbXref ENSEMBL:ENSG00000130175 semapv:UnspecifiedMatching -Orphanet:118020 protein kinase C substrate 80K-H oboInOwl:hasDbXref OMIM:177060 semapv:UnspecifiedMatching -Orphanet:118020 protein kinase C substrate 80K-H oboInOwl:hasDbXref uniprot:P14314 semapv:UnspecifiedMatching -Orphanet:118023 prion protein oboInOwl:hasDbXref ENSEMBL:ENSG00000171867 semapv:UnspecifiedMatching -Orphanet:118023 prion protein oboInOwl:hasDbXref OMIM:176640 semapv:UnspecifiedMatching -Orphanet:118023 prion protein oboInOwl:hasDbXref uniprot:P04156 semapv:UnspecifiedMatching +Orphanet:118020 PRKCSH beta subunit of glucosidase II oboInOwl:hasDbXref ENSEMBL:ENSG00000130175 semapv:UnspecifiedMatching +Orphanet:118020 PRKCSH beta subunit of glucosidase II oboInOwl:hasDbXref OMIM:177060 semapv:UnspecifiedMatching +Orphanet:118020 PRKCSH beta subunit of glucosidase II oboInOwl:hasDbXref uniprot:P14314 semapv:UnspecifiedMatching +Orphanet:118023 prion protein (Kanno blood group) oboInOwl:hasDbXref ENSEMBL:ENSG00000171867 semapv:UnspecifiedMatching +Orphanet:118023 prion protein (Kanno blood group) oboInOwl:hasDbXref OMIM:176640 semapv:UnspecifiedMatching +Orphanet:118023 prion protein (Kanno blood group) oboInOwl:hasDbXref uniprot:P04156 semapv:UnspecifiedMatching Orphanet:118030 protein C, inactivator of coagulation factors Va and VIIIa oboInOwl:hasDbXref ENSEMBL:ENSG00000115718 semapv:UnspecifiedMatching Orphanet:118030 protein C, inactivator of coagulation factors Va and VIIIa oboInOwl:hasDbXref OMIM:612283 semapv:UnspecifiedMatching Orphanet:118030 protein C, inactivator of coagulation factors Va and VIIIa oboInOwl:hasDbXref uniprot:P04070 semapv:UnspecifiedMatching @@ -2776,9 +2761,9 @@ Orphanet:119354 ceramide kinase like oboInOwl:hasDbXref uniprot:Q49MI3 semapv:Un Orphanet:119357 cholesteryl ester transfer protein oboInOwl:hasDbXref ENSEMBL:ENSG00000087237 semapv:UnspecifiedMatching Orphanet:119357 cholesteryl ester transfer protein oboInOwl:hasDbXref OMIM:118470 semapv:UnspecifiedMatching Orphanet:119357 cholesteryl ester transfer protein oboInOwl:hasDbXref uniprot:P11597 semapv:UnspecifiedMatching -Orphanet:119359 cripto, FRL-1, cryptic family 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000136698 semapv:UnspecifiedMatching -Orphanet:119359 cripto, FRL-1, cryptic family 1 oboInOwl:hasDbXref OMIM:605194 semapv:UnspecifiedMatching -Orphanet:119359 cripto, FRL-1, cryptic family 1 oboInOwl:hasDbXref uniprot:P0CG37 semapv:UnspecifiedMatching +Orphanet:119359 cryptic, EGF-CFC family member 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000136698 semapv:UnspecifiedMatching +Orphanet:119359 cryptic, EGF-CFC family member 1 oboInOwl:hasDbXref OMIM:605194 semapv:UnspecifiedMatching +Orphanet:119359 cryptic, EGF-CFC family member 1 oboInOwl:hasDbXref uniprot:P0CG37 semapv:UnspecifiedMatching Orphanet:119363 complement factor H oboInOwl:hasDbXref ENSEMBL:ENSG00000000971 semapv:UnspecifiedMatching Orphanet:119363 complement factor H oboInOwl:hasDbXref OMIM:134370 semapv:UnspecifiedMatching Orphanet:119363 complement factor H oboInOwl:hasDbXref uniprot:P08603 semapv:UnspecifiedMatching @@ -4036,9 +4021,6 @@ Orphanet:121069 desert hedgehog signaling molecule oboInOwl:hasDbXref uniprot:O4 Orphanet:121073 diaphanous related formin 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000131504 semapv:UnspecifiedMatching Orphanet:121073 diaphanous related formin 1 oboInOwl:hasDbXref OMIM:602121 semapv:UnspecifiedMatching Orphanet:121073 diaphanous related formin 1 oboInOwl:hasDbXref uniprot:O60610 semapv:UnspecifiedMatching -Orphanet:121089 DISC1 scaffold protein oboInOwl:hasDbXref ENSEMBL:ENSG00000162946 semapv:UnspecifiedMatching -Orphanet:121089 DISC1 scaffold protein oboInOwl:hasDbXref OMIM:605210 semapv:UnspecifiedMatching -Orphanet:121089 DISC1 scaffold protein oboInOwl:hasDbXref uniprot:Q9NRI5 semapv:UnspecifiedMatching Orphanet:121091 dyskerin pseudouridine synthase 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000130826 semapv:UnspecifiedMatching Orphanet:121091 dyskerin pseudouridine synthase 1 oboInOwl:hasDbXref OMIM:300126 semapv:UnspecifiedMatching Orphanet:121091 dyskerin pseudouridine synthase 1 oboInOwl:hasDbXref uniprot:O60832 semapv:UnspecifiedMatching @@ -5605,9 +5587,6 @@ Orphanet:123257 modulator of VRAC current 1 oboInOwl:hasDbXref uniprot:Q15049 se Orphanet:123263 mutL homolog 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000076242 semapv:UnspecifiedMatching Orphanet:123263 mutL homolog 1 oboInOwl:hasDbXref OMIM:120436 semapv:UnspecifiedMatching Orphanet:123263 mutL homolog 1 oboInOwl:hasDbXref uniprot:P40692 semapv:UnspecifiedMatching -Orphanet:123269 mutL homolog 3 oboInOwl:hasDbXref ENSEMBL:ENSG00000119684 semapv:UnspecifiedMatching -Orphanet:123269 mutL homolog 3 oboInOwl:hasDbXref OMIM:604395 semapv:UnspecifiedMatching -Orphanet:123269 mutL homolog 3 oboInOwl:hasDbXref uniprot:Q9UHC1 semapv:UnspecifiedMatching Orphanet:123271 lysine methyltransferase 2A oboInOwl:hasDbXref ENSEMBL:ENSG00000118058 semapv:UnspecifiedMatching Orphanet:123271 lysine methyltransferase 2A oboInOwl:hasDbXref OMIM:159555 semapv:UnspecifiedMatching Orphanet:123271 lysine methyltransferase 2A oboInOwl:hasDbXref uniprot:Q03164 semapv:UnspecifiedMatching @@ -6040,6 +6019,10 @@ Orphanet:123893 NPHS2 stomatin family member, podocin oboInOwl:hasDbXref uniprot Orphanet:123897 natriuretic peptide receptor 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000159899 semapv:UnspecifiedMatching Orphanet:123897 natriuretic peptide receptor 2 oboInOwl:hasDbXref OMIM:108961 semapv:UnspecifiedMatching Orphanet:123897 natriuretic peptide receptor 2 oboInOwl:hasDbXref uniprot:P20594 semapv:UnspecifiedMatching +Orphanet:1239 Behr syndrome oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:1239 Behr syndrome oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching +Orphanet:1239 Behr syndrome oboInOwl:hasDbXref OMIM:210000 semapv:UnspecifiedMatching +Orphanet:1239 Behr syndrome oboInOwl:hasDbXref UMLS:C0221061 semapv:UnspecifiedMatching Orphanet:123902 nuclear receptor subfamily 0 group B member 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000169297 semapv:UnspecifiedMatching Orphanet:123902 nuclear receptor subfamily 0 group B member 1 oboInOwl:hasDbXref OMIM:300473 semapv:UnspecifiedMatching Orphanet:123902 nuclear receptor subfamily 0 group B member 1 oboInOwl:hasDbXref uniprot:P51843 semapv:UnspecifiedMatching @@ -6114,12 +6097,9 @@ Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:618312 semapv:Unspe Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:618313 semapv:UnspecifiedMatching Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref OMIM:620072 semapv:UnspecifiedMatching Orphanet:124 Diamond-Blackfan anemia oboInOwl:hasDbXref icd11:3A60.1 semapv:UnspecifiedMatching -Orphanet:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching -Orphanet:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching Orphanet:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref MESH:C537350 semapv:UnspecifiedMatching Orphanet:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref OMIM:250215 semapv:UnspecifiedMatching Orphanet:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref UMLS:C1855243 semapv:UnspecifiedMatching -Orphanet:1240 Metaphyseal acroscyphodysplasia oboInOwl:hasDbXref icd11:LD24.7 semapv:UnspecifiedMatching Orphanet:124003 outer mitochondrial membrane lipid metabolism regulator OPA3 oboInOwl:hasDbXref ENSEMBL:ENSG00000125741 semapv:UnspecifiedMatching Orphanet:124003 outer mitochondrial membrane lipid metabolism regulator OPA3 oboInOwl:hasDbXref OMIM:606580 semapv:UnspecifiedMatching Orphanet:124003 outer mitochondrial membrane lipid metabolism regulator OPA3 oboInOwl:hasDbXref uniprot:Q9H6K4 semapv:UnspecifiedMatching @@ -6307,8 +6287,6 @@ Orphanet:1243 Best vitelliform macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 Orphanet:1243 Best vitelliform macular dystrophy oboInOwl:hasDbXref OMIM:153700 semapv:UnspecifiedMatching Orphanet:1243 Best vitelliform macular dystrophy oboInOwl:hasDbXref UMLS:C0339510 semapv:UnspecifiedMatching Orphanet:1243 Best vitelliform macular dystrophy oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching -Orphanet:1244 NON RARE IN EUROPE: Bicuspid aortic valve oboInOwl:hasDbXref ICD10:Q23.1 semapv:UnspecifiedMatching -Orphanet:1244 NON RARE IN EUROPE: Bicuspid aortic valve oboInOwl:hasDbXref ICD10:Q23.1 semapv:UnspecifiedMatching Orphanet:1245 BIDS syndrome oboInOwl:hasDbXref OMIM:234050 semapv:UnspecifiedMatching Orphanet:1245 BIDS syndrome oboInOwl:hasDbXref UMLS:C3495483 semapv:UnspecifiedMatching Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -6396,9 +6374,6 @@ Orphanet:1264 Tricho-retino-dento-digital syndrome oboInOwl:hasDbXref MESH:C5365 Orphanet:1264 Tricho-retino-dento-digital syndrome oboInOwl:hasDbXref OMIM:191482 semapv:UnspecifiedMatching Orphanet:1264 Tricho-retino-dento-digital syndrome oboInOwl:hasDbXref UMLS:C1860605 semapv:UnspecifiedMatching Orphanet:1264 Tricho-retino-dento-digital syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching -Orphanet:1266 Dermato-cardio-skeletal syndrome, Borrone type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:1266 Dermato-cardio-skeletal syndrome, Borrone type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:1266 Dermato-cardio-skeletal syndrome, Borrone type oboInOwl:hasDbXref OMIM:249420 semapv:UnspecifiedMatching Orphanet:1267 Botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching Orphanet:1267 Botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching Orphanet:1267 Botulism oboInOwl:hasDbXref MESH:D001906 semapv:UnspecifiedMatching @@ -6423,7 +6398,6 @@ Orphanet:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:Unspeci Orphanet:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref MESH:C537933 semapv:UnspecifiedMatching Orphanet:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref OMIM:601088 semapv:UnspecifiedMatching -Orphanet:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref OMIM:601353 semapv:UnspecifiedMatching Orphanet:1272 Aymé-Gripp syndrome oboInOwl:hasDbXref UMLS:C0795941 semapv:UnspecifiedMatching Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:1275 Brachydactyly-elbow wrist dysplasia syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching @@ -6541,7 +6515,6 @@ Orphanet:1305 Feingold syndrome oboInOwl:hasDbXref OMIM:164280 semapv:Unspecifie Orphanet:1305 Feingold syndrome oboInOwl:hasDbXref OMIM:614326 semapv:UnspecifiedMatching Orphanet:1305 Feingold syndrome oboInOwl:hasDbXref UMLS:C0796068 semapv:UnspecifiedMatching Orphanet:1305 Feingold syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching -Orphanet:1306 NON RARE IN EUROPE: Buschke-Ollendorff syndrome oboInOwl:hasDbXref icd11:EC4Y semapv:UnspecifiedMatching Orphanet:1307 Distal limb deficiencies-micrognathia syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:1307 Distal limb deficiencies-micrognathia syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:1307 Distal limb deficiencies-micrognathia syndrome oboInOwl:hasDbXref OMIM:246560 semapv:UnspecifiedMatching @@ -6611,7 +6584,6 @@ Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndro Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome oboInOwl:hasDbXref MESH:C537287 semapv:UnspecifiedMatching Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome oboInOwl:hasDbXref OMIM:211930 semapv:UnspecifiedMatching -Orphanet:1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome oboInOwl:hasDbXref UMLS:C1859357 semapv:UnspecifiedMatching Orphanet:132262 fibroblast growth factor receptor 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000066468 semapv:UnspecifiedMatching Orphanet:132262 fibroblast growth factor receptor 2 oboInOwl:hasDbXref OMIM:176943 semapv:UnspecifiedMatching Orphanet:132262 fibroblast growth factor receptor 2 oboInOwl:hasDbXref uniprot:P21802 semapv:UnspecifiedMatching @@ -6933,15 +6905,12 @@ Orphanet:137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination Orphanet:137646 Bardet-Biedl syndrome 12 oboInOwl:hasDbXref ENSEMBL:ENSG00000181004 semapv:UnspecifiedMatching Orphanet:137646 Bardet-Biedl syndrome 12 oboInOwl:hasDbXref OMIM:610683 semapv:UnspecifiedMatching Orphanet:137646 Bardet-Biedl syndrome 12 oboInOwl:hasDbXref uniprot:Q6ZW61 semapv:UnspecifiedMatching -Orphanet:137653 Microcephaly-digital anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:137653 Microcephaly-digital anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:137658 Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:137658 Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:137658 Microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome oboInOwl:hasDbXref OMIM:615236 semapv:UnspecifiedMatching Orphanet:137667 Capillary malformation-arteriovenous malformation oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching Orphanet:137667 Capillary malformation-arteriovenous malformation oboInOwl:hasDbXref ICD10:Q27.3 semapv:UnspecifiedMatching Orphanet:137667 Capillary malformation-arteriovenous malformation oboInOwl:hasDbXref MESH:C564254 semapv:UnspecifiedMatching Orphanet:137667 Capillary malformation-arteriovenous malformation oboInOwl:hasDbXref OMIM:608354 semapv:UnspecifiedMatching +Orphanet:137667 Capillary malformation-arteriovenous malformation oboInOwl:hasDbXref OMIM:618196 semapv:UnspecifiedMatching Orphanet:137667 Capillary malformation-arteriovenous malformation oboInOwl:hasDbXref UMLS:C1842180 semapv:UnspecifiedMatching Orphanet:137667 Capillary malformation-arteriovenous malformation oboInOwl:hasDbXref icd11:LA90.3Y semapv:UnspecifiedMatching Orphanet:137672 Pellucid marginal degeneration oboInOwl:hasDbXref ICD10:H18.7 semapv:UnspecifiedMatching @@ -6981,12 +6950,12 @@ Orphanet:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref OMIM:116200 semap Orphanet:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref OMIM:601547 semapv:UnspecifiedMatching Orphanet:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref OMIM:604219 semapv:UnspecifiedMatching Orphanet:1377 Cataract-microcornea syndrome oboInOwl:hasDbXref UMLS:C1861829 semapv:UnspecifiedMatching -Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency oboInOwl:hasDbXref MESH:C538246 semapv:UnspecifiedMatching -Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency oboInOwl:hasDbXref OMIM:609924 semapv:UnspecifiedMatching -Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency oboInOwl:hasDbXref UMLS:C1835922 semapv:UnspecifiedMatching -Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency oboInOwl:hasDbXref icd11:5C50.E1 semapv:UnspecifiedMatching +Orphanet:137754 Aminoacylase 1 deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:137754 Aminoacylase 1 deficiency oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching +Orphanet:137754 Aminoacylase 1 deficiency oboInOwl:hasDbXref MESH:C538246 semapv:UnspecifiedMatching +Orphanet:137754 Aminoacylase 1 deficiency oboInOwl:hasDbXref OMIM:609924 semapv:UnspecifiedMatching +Orphanet:137754 Aminoacylase 1 deficiency oboInOwl:hasDbXref UMLS:C1835922 semapv:UnspecifiedMatching +Orphanet:137754 Aminoacylase 1 deficiency oboInOwl:hasDbXref icd11:5C50.E1 semapv:UnspecifiedMatching Orphanet:137776 Lethal congenital contracture syndrome type 2 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:137776 Lethal congenital contracture syndrome type 2 oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:137776 Lethal congenital contracture syndrome type 2 oboInOwl:hasDbXref MESH:C564369 semapv:UnspecifiedMatching @@ -7073,8 +7042,6 @@ Orphanet:137839 Lemierre syndrome oboInOwl:hasDbXref ICD10:J03.8 semapv:Unspecif Orphanet:137839 Lemierre syndrome oboInOwl:hasDbXref MESH:D057831 semapv:UnspecifiedMatching Orphanet:137839 Lemierre syndrome oboInOwl:hasDbXref MedDRA:10065552 semapv:UnspecifiedMatching Orphanet:137839 Lemierre syndrome oboInOwl:hasDbXref UMLS:C0343525 semapv:UnspecifiedMatching -Orphanet:137862 Martínez-Frías syndrome oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching -Orphanet:137862 Martínez-Frías syndrome oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching Orphanet:137862 Martínez-Frías syndrome oboInOwl:hasDbXref OMIM:601346 semapv:UnspecifiedMatching Orphanet:137862 Martínez-Frías syndrome oboInOwl:hasDbXref UMLS:C1832443 semapv:UnspecifiedMatching Orphanet:137867 Madras motor neuron disease oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching @@ -7109,8 +7076,6 @@ Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDb Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDbXref OMIM:611719 semapv:UnspecifiedMatching Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDbXref UMLS:C2673642 semapv:UnspecifiedMatching Orphanet:137908 Hypotonia with lactic acidemia and hyperammonemia oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching -Orphanet:137911 Autism-facial port-wine stain syndrome oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching -Orphanet:137911 Autism-facial port-wine stain syndrome oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching Orphanet:137914 Choanal atresia oboInOwl:hasDbXref ICD10:Q30.0 semapv:UnspecifiedMatching Orphanet:137914 Choanal atresia oboInOwl:hasDbXref ICD10:Q30.0 semapv:UnspecifiedMatching Orphanet:137914 Choanal atresia oboInOwl:hasDbXref MESH:D002754 semapv:UnspecifiedMatching @@ -7124,6 +7089,7 @@ Orphanet:137917 Choanal atresia, unilateral oboInOwl:hasDbXref UMLS:C5680630 sem Orphanet:137917 Choanal atresia, unilateral oboInOwl:hasDbXref icd11:LA70.2 semapv:UnspecifiedMatching Orphanet:137920 Choanal atresia, bilateral oboInOwl:hasDbXref ICD10:Q30.0 semapv:UnspecifiedMatching Orphanet:137920 Choanal atresia, bilateral oboInOwl:hasDbXref ICD10:Q30.0 semapv:UnspecifiedMatching +Orphanet:137920 Choanal atresia, bilateral oboInOwl:hasDbXref UMLS:C4025317 semapv:UnspecifiedMatching Orphanet:137920 Choanal atresia, bilateral oboInOwl:hasDbXref icd11:LA70.2 semapv:UnspecifiedMatching Orphanet:137926 Primary laryngeal lymphangioma oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching Orphanet:137926 Primary laryngeal lymphangioma oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching @@ -7136,9 +7102,9 @@ Orphanet:137932 Congenital laryngeal palsy oboInOwl:hasDbXref ICD10:J38.0 semapv Orphanet:137932 Congenital laryngeal palsy oboInOwl:hasDbXref MedDRA:10087175 semapv:UnspecifiedMatching Orphanet:137932 Congenital laryngeal palsy oboInOwl:hasDbXref UMLS:C0396058 semapv:UnspecifiedMatching Orphanet:137932 Congenital laryngeal palsy oboInOwl:hasDbXref icd11:LA71.Y semapv:UnspecifiedMatching -Orphanet:137935 Laryngotracheal angioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching -Orphanet:137935 Laryngotracheal angioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching -Orphanet:137935 Laryngotracheal angioma oboInOwl:hasDbXref UMLS:C3839574 semapv:UnspecifiedMatching +Orphanet:137935 Airway infantile hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:137935 Airway infantile hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching +Orphanet:137935 Airway infantile hemangioma oboInOwl:hasDbXref UMLS:C3839574 semapv:UnspecifiedMatching Orphanet:137959 thromboxane A synthase 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000059377 semapv:UnspecifiedMatching Orphanet:137959 thromboxane A synthase 1 oboInOwl:hasDbXref OMIM:274180 semapv:UnspecifiedMatching Orphanet:137959 thromboxane A synthase 1 oboInOwl:hasDbXref uniprot:P24557 semapv:UnspecifiedMatching @@ -7255,6 +7221,9 @@ Orphanet:138543 spermine synthase oboInOwl:hasDbXref uniprot:P52788 semapv:Unspe Orphanet:138557 VANGL planar cell polarity protein 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000173218 semapv:UnspecifiedMatching Orphanet:138557 VANGL planar cell polarity protein 1 oboInOwl:hasDbXref OMIM:610132 semapv:UnspecifiedMatching Orphanet:138557 VANGL planar cell polarity protein 1 oboInOwl:hasDbXref uniprot:Q8TAA9 semapv:UnspecifiedMatching +Orphanet:138561 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000100714 semapv:UnspecifiedMatching +Orphanet:138561 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 oboInOwl:hasDbXref OMIM:172460 semapv:UnspecifiedMatching +Orphanet:138561 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 oboInOwl:hasDbXref uniprot:P11586 semapv:UnspecifiedMatching Orphanet:138568 amnion associated transmembrane protein oboInOwl:hasDbXref ENSEMBL:ENSG00000166126 semapv:UnspecifiedMatching Orphanet:138568 amnion associated transmembrane protein oboInOwl:hasDbXref OMIM:605799 semapv:UnspecifiedMatching Orphanet:138568 amnion associated transmembrane protein oboInOwl:hasDbXref uniprot:Q9BXJ7 semapv:UnspecifiedMatching @@ -7434,6 +7403,7 @@ Orphanet:139393 Syndromic craniosynostosis oboInOwl:hasDbXref UMLS:C5680624 sema Orphanet:139396 X-linked cerebral adrenoleukodystrophy oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:139396 X-linked cerebral adrenoleukodystrophy oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:139396 X-linked cerebral adrenoleukodystrophy oboInOwl:hasDbXref OMIM:300100 semapv:UnspecifiedMatching +Orphanet:139396 X-linked cerebral adrenoleukodystrophy oboInOwl:hasDbXref UMLS:C2026514 semapv:UnspecifiedMatching Orphanet:139396 X-linked cerebral adrenoleukodystrophy oboInOwl:hasDbXref icd11:5C57.1 semapv:UnspecifiedMatching Orphanet:139399 Adrenomyeloneuropathy oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:139399 Adrenomyeloneuropathy oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching @@ -7524,9 +7494,6 @@ Orphanet:139474 17q11.2 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 Orphanet:139474 17q11.2 microduplication syndrome oboInOwl:hasDbXref OMIM:618874 semapv:UnspecifiedMatching Orphanet:139474 17q11.2 microduplication syndrome oboInOwl:hasDbXref UMLS:C3495679 semapv:UnspecifiedMatching Orphanet:139474 17q11.2 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.G0 semapv:UnspecifiedMatching -Orphanet:139477 Al-Gazali-Dattani syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -Orphanet:139477 Al-Gazali-Dattani syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -Orphanet:139477 Al-Gazali-Dattani syndrome oboInOwl:hasDbXref OMIM:612379 semapv:UnspecifiedMatching Orphanet:139480 Autosomal recessive spastic paraplegia type 39 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:139480 Autosomal recessive spastic paraplegia type 39 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:139480 Autosomal recessive spastic paraplegia type 39 oboInOwl:hasDbXref MESH:C567433 semapv:UnspecifiedMatching @@ -7540,11 +7507,10 @@ Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref OMIM:619028 semapv:UnspecifiedMatching Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref UMLS:C2677589 semapv:UnspecifiedMatching Orphanet:139485 Autosomal recessive ataxia due to ubiquinone deficiency oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching -Orphanet:139498 NON RARE IN EUROPE: Hemochromatosis type 1 oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching -Orphanet:139498 NON RARE IN EUROPE: Hemochromatosis type 1 oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching Orphanet:139507 Dietary iron overload disease oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching Orphanet:139507 Dietary iron overload disease oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching Orphanet:139507 Dietary iron overload disease oboInOwl:hasDbXref MESH:C537904 semapv:UnspecifiedMatching +Orphanet:139507 Dietary iron overload disease oboInOwl:hasDbXref MedDRA:10083862 semapv:UnspecifiedMatching Orphanet:139507 Dietary iron overload disease oboInOwl:hasDbXref OMIM:601195 semapv:UnspecifiedMatching Orphanet:139507 Dietary iron overload disease oboInOwl:hasDbXref UMLS:C0268063 semapv:UnspecifiedMatching Orphanet:139507 Dietary iron overload disease oboInOwl:hasDbXref icd11:5C64.10 semapv:UnspecifiedMatching @@ -7653,6 +7619,7 @@ Orphanet:139906 tyrosyl-tRNA synthetase 1 oboInOwl:hasDbXref uniprot:P54577 sema Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref MESH:D000012 semapv:UnspecifiedMatching +Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref MedDRA:10083851 semapv:UnspecifiedMatching Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref OMIM:200100 semapv:UnspecifiedMatching Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref OMIM:605019 semapv:UnspecifiedMatching Orphanet:14 Abetalipoproteinemia oboInOwl:hasDbXref OMIM:615558 semapv:UnspecifiedMatching @@ -7956,6 +7923,9 @@ Orphanet:141112 Nasal glial heterotopia oboInOwl:hasDbXref ICD10:Q30.8 semapv:Un Orphanet:141112 Nasal glial heterotopia oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching Orphanet:141112 Nasal glial heterotopia oboInOwl:hasDbXref UMLS:C0266490 semapv:UnspecifiedMatching Orphanet:141112 Nasal glial heterotopia oboInOwl:hasDbXref icd11:LA70.Y semapv:UnspecifiedMatching +Orphanet:141115 Nasal ganglioglioma oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching +Orphanet:141115 Nasal ganglioglioma oboInOwl:hasDbXref ICD10:Q30.8 semapv:UnspecifiedMatching +Orphanet:141115 Nasal ganglioglioma oboInOwl:hasDbXref UMLS:C5548206 semapv:UnspecifiedMatching Orphanet:141115 Nasal ganglioglioma oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching Orphanet:141118 Nasal encephalocele oboInOwl:hasDbXref ICD10:Q01.1 semapv:UnspecifiedMatching Orphanet:141118 Nasal encephalocele oboInOwl:hasDbXref ICD10:Q01.1 semapv:UnspecifiedMatching @@ -7979,9 +7949,9 @@ Orphanet:141127 Congenital tracheal stenosis oboInOwl:hasDbXref icd11:LA73.0 sem Orphanet:141132 Oculo-auriculo-vertebral spectrum oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:141132 Oculo-auriculo-vertebral spectrum oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:141132 Oculo-auriculo-vertebral spectrum oboInOwl:hasDbXref MedDRA:10051934 semapv:UnspecifiedMatching +Orphanet:141132 Oculo-auriculo-vertebral spectrum oboInOwl:hasDbXref OMIM:164210 semapv:UnspecifiedMatching +Orphanet:141132 Oculo-auriculo-vertebral spectrum oboInOwl:hasDbXref UMLS:C0265240 semapv:UnspecifiedMatching Orphanet:141132 Oculo-auriculo-vertebral spectrum oboInOwl:hasDbXref icd11:LD2F.16 semapv:UnspecifiedMatching -Orphanet:141136 Otomandibular syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -Orphanet:141136 Otomandibular syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:141145 Hemifacial hyperplasia oboInOwl:hasDbXref ICD10:Q67.4 semapv:UnspecifiedMatching Orphanet:141145 Hemifacial hyperplasia oboInOwl:hasDbXref ICD10:Q67.4 semapv:UnspecifiedMatching Orphanet:141145 Hemifacial hyperplasia oboInOwl:hasDbXref OMIM:133900 semapv:UnspecifiedMatching @@ -8035,6 +8005,7 @@ Orphanet:141199 Cerebrofacial arteriovenous metameric syndrome type 3 oboInOwl:h Orphanet:141199 Cerebrofacial arteriovenous metameric syndrome type 3 oboInOwl:hasDbXref icd11:LA90.3Y semapv:UnspecifiedMatching Orphanet:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref MESH:C536943 semapv:UnspecifiedMatching Orphanet:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref OMIM:186400 semapv:UnspecifiedMatching Orphanet:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref OMIM:186570 semapv:UnspecifiedMatching Orphanet:1412 Tarsal-carpal coalition syndrome oboInOwl:hasDbXref UMLS:C1861305 semapv:UnspecifiedMatching @@ -8053,6 +8024,7 @@ Orphanet:141219 Nasal dorsum fistula oboInOwl:hasDbXref UMLS:C0339853 semapv:Uns Orphanet:141219 Nasal dorsum fistula oboInOwl:hasDbXref icd11:LA5Y semapv:UnspecifiedMatching Orphanet:141229 Facial cleft oboInOwl:hasDbXref UMLS:C0685787 semapv:UnspecifiedMatching Orphanet:141229 Facial cleft oboInOwl:hasDbXref icd11:LA51 semapv:UnspecifiedMatching +Orphanet:141234 Median facial cleft oboInOwl:hasDbXref UMLS:C4022007 semapv:UnspecifiedMatching Orphanet:141239 Median cleft of the upper lip and maxilla oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching Orphanet:141239 Median cleft of the upper lip and maxilla oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching Orphanet:141239 Median cleft of the upper lip and maxilla oboInOwl:hasDbXref UMLS:C3697381 semapv:UnspecifiedMatching @@ -8103,16 +8075,6 @@ Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:610361 semapv:Uns Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref OMIM:612858 semapv:UnspecifiedMatching Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref UMLS:C1298692 semapv:UnspecifiedMatching Orphanet:141291 Cleft lip and alveolus oboInOwl:hasDbXref icd11:LA41 semapv:UnspecifiedMatching -Orphanet:141327 Orofaciodigital syndrome type 12 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -Orphanet:141327 Orofaciodigital syndrome type 12 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -Orphanet:141327 Orofaciodigital syndrome type 12 oboInOwl:hasDbXref MESH:C548034 semapv:UnspecifiedMatching -Orphanet:141327 Orofaciodigital syndrome type 12 oboInOwl:hasDbXref UMLS:C4706601 semapv:UnspecifiedMatching -Orphanet:141327 Orofaciodigital syndrome type 12 oboInOwl:hasDbXref icd11:LD25.00 semapv:UnspecifiedMatching -Orphanet:141330 Orofaciodigital syndrome type 13 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -Orphanet:141330 Orofaciodigital syndrome type 13 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -Orphanet:141330 Orofaciodigital syndrome type 13 oboInOwl:hasDbXref MESH:C548035 semapv:UnspecifiedMatching -Orphanet:141330 Orofaciodigital syndrome type 13 oboInOwl:hasDbXref UMLS:C4706602 semapv:UnspecifiedMatching -Orphanet:141330 Orofaciodigital syndrome type 13 oboInOwl:hasDbXref icd11:LD25.00 semapv:UnspecifiedMatching Orphanet:141333 Biemond syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:141333 Biemond syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:141333 Biemond syndrome type 2 oboInOwl:hasDbXref MESH:C565902 semapv:UnspecifiedMatching @@ -8124,11 +8086,11 @@ Orphanet:1414 Cholestasis-lymphedema syndrome oboInOwl:hasDbXref MESH:C535330 se Orphanet:1414 Cholestasis-lymphedema syndrome oboInOwl:hasDbXref OMIM:214900 semapv:UnspecifiedMatching Orphanet:1414 Cholestasis-lymphedema syndrome oboInOwl:hasDbXref UMLS:C0268314 semapv:UnspecifiedMatching Orphanet:1414 Cholestasis-lymphedema syndrome oboInOwl:hasDbXref icd11:DB99.6Y semapv:UnspecifiedMatching -Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome oboInOwl:hasDbXref MESH:C535632 semapv:UnspecifiedMatching -Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome oboInOwl:hasDbXref OMIM:301068 semapv:UnspecifiedMatching -Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome oboInOwl:hasDbXref UMLS:C0795969 semapv:UnspecifiedMatching +Orphanet:1415 Hardikar syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1415 Hardikar syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:1415 Hardikar syndrome oboInOwl:hasDbXref MESH:C535632 semapv:UnspecifiedMatching +Orphanet:1415 Hardikar syndrome oboInOwl:hasDbXref OMIM:301068 semapv:UnspecifiedMatching +Orphanet:1415 Hardikar syndrome oboInOwl:hasDbXref UMLS:C0795969 semapv:UnspecifiedMatching Orphanet:1416 Familial calcium pyrophosphate deposition oboInOwl:hasDbXref ICD10:M11.1 semapv:UnspecifiedMatching Orphanet:1416 Familial calcium pyrophosphate deposition oboInOwl:hasDbXref ICD10:M11.1 semapv:UnspecifiedMatching Orphanet:1416 Familial calcium pyrophosphate deposition oboInOwl:hasDbXref OMIM:118600 semapv:UnspecifiedMatching @@ -8205,13 +8167,16 @@ Orphanet:1437 Ring chromosome 1 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:U Orphanet:1437 Ring chromosome 1 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1437 Ring chromosome 1 syndrome oboInOwl:hasDbXref MESH:C535361 semapv:UnspecifiedMatching Orphanet:1437 Ring chromosome 1 syndrome oboInOwl:hasDbXref UMLS:C0265395 semapv:UnspecifiedMatching +Orphanet:1437 Ring chromosome 1 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:1438 Ring chromosome 10 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1438 Ring chromosome 10 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1438 Ring chromosome 10 syndrome oboInOwl:hasDbXref MESH:C538086 semapv:UnspecifiedMatching Orphanet:1438 Ring chromosome 10 syndrome oboInOwl:hasDbXref UMLS:C0265438 semapv:UnspecifiedMatching +Orphanet:1438 Ring chromosome 10 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:1439 Ring chromosome 12 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1439 Ring chromosome 12 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1439 Ring chromosome 12 syndrome oboInOwl:hasDbXref UMLS:C5201040 semapv:UnspecifiedMatching +Orphanet:1439 Ring chromosome 12 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:144 Lynch syndrome oboInOwl:hasDbXref ICD10:D48.9 semapv:UnspecifiedMatching Orphanet:144 Lynch syndrome oboInOwl:hasDbXref ICD10:D48.9 semapv:UnspecifiedMatching Orphanet:144 Lynch syndrome oboInOwl:hasDbXref MESH:D003123 semapv:UnspecifiedMatching @@ -8229,41 +8194,51 @@ Orphanet:1440 Ring chromosome 14 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv: Orphanet:1440 Ring chromosome 14 syndrome oboInOwl:hasDbXref MESH:C535487 semapv:UnspecifiedMatching Orphanet:1440 Ring chromosome 14 syndrome oboInOwl:hasDbXref OMIM:616606 semapv:UnspecifiedMatching Orphanet:1440 Ring chromosome 14 syndrome oboInOwl:hasDbXref UMLS:C2930916 semapv:UnspecifiedMatching +Orphanet:1440 Ring chromosome 14 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:1441 Ring chromosome 17 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1441 Ring chromosome 17 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1441 Ring chromosome 17 syndrome oboInOwl:hasDbXref MESH:C538046 semapv:UnspecifiedMatching Orphanet:1441 Ring chromosome 17 syndrome oboInOwl:hasDbXref UMLS:C0795863 semapv:UnspecifiedMatching +Orphanet:1441 Ring chromosome 17 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:1442 Ring chromosome 18 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1442 Ring chromosome 18 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1442 Ring chromosome 18 syndrome oboInOwl:hasDbXref MESH:C538304 semapv:UnspecifiedMatching Orphanet:1442 Ring chromosome 18 syndrome oboInOwl:hasDbXref UMLS:C0265475 semapv:UnspecifiedMatching +Orphanet:1442 Ring chromosome 18 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:1443 Ring chromosome 19 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1443 Ring chromosome 19 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1443 Ring chromosome 19 syndrome oboInOwl:hasDbXref UMLS:C0795869 semapv:UnspecifiedMatching +Orphanet:1443 Ring chromosome 19 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:1444 Ring chromosome 20 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1444 Ring chromosome 20 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1444 Ring chromosome 20 syndrome oboInOwl:hasDbXref MESH:C580424 semapv:UnspecifiedMatching Orphanet:1444 Ring chromosome 20 syndrome oboInOwl:hasDbXref UMLS:C0265482 semapv:UnspecifiedMatching +Orphanet:1444 Ring chromosome 20 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:1445 Ring chromosome 21 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1445 Ring chromosome 21 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1445 Ring chromosome 21 syndrome oboInOwl:hasDbXref MESH:C537109 semapv:UnspecifiedMatching Orphanet:1445 Ring chromosome 21 syndrome oboInOwl:hasDbXref UMLS:C0265487 semapv:UnspecifiedMatching +Orphanet:1445 Ring chromosome 21 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:1446 Ring chromosome 22 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1446 Ring chromosome 22 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1446 Ring chromosome 22 syndrome oboInOwl:hasDbXref MESH:C536795 semapv:UnspecifiedMatching Orphanet:1446 Ring chromosome 22 syndrome oboInOwl:hasDbXref UMLS:C0265492 semapv:UnspecifiedMatching +Orphanet:1446 Ring chromosome 22 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:1447 Ring chromosome 4 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1447 Ring chromosome 4 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1447 Ring chromosome 4 syndrome oboInOwl:hasDbXref MESH:C537636 semapv:UnspecifiedMatching Orphanet:1447 Ring chromosome 4 syndrome oboInOwl:hasDbXref UMLS:C0265407 semapv:UnspecifiedMatching +Orphanet:1447 Ring chromosome 4 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:1448 Ring chromosome 6 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1448 Ring chromosome 6 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1448 Ring chromosome 6 syndrome oboInOwl:hasDbXref MESH:C537763 semapv:UnspecifiedMatching Orphanet:1448 Ring chromosome 6 syndrome oboInOwl:hasDbXref UMLS:C0795814 semapv:UnspecifiedMatching +Orphanet:1448 Ring chromosome 6 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:1449 Ring chromosome 7 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1449 Ring chromosome 7 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1449 Ring chromosome 7 syndrome oboInOwl:hasDbXref MESH:C537813 semapv:UnspecifiedMatching Orphanet:1449 Ring chromosome 7 syndrome oboInOwl:hasDbXref UMLS:C0795818 semapv:UnspecifiedMatching +Orphanet:1449 Ring chromosome 7 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref ICD10:C50.9 semapv:UnspecifiedMatching Orphanet:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref ICD10:C50.9 semapv:UnspecifiedMatching Orphanet:145 Hereditary breast and/or ovarian cancer syndrome oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching @@ -8279,6 +8254,7 @@ Orphanet:1450 Ring chromosome 8 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:U Orphanet:1450 Ring chromosome 8 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:1450 Ring chromosome 8 syndrome oboInOwl:hasDbXref MESH:C537824 semapv:UnspecifiedMatching Orphanet:1450 Ring chromosome 8 syndrome oboInOwl:hasDbXref UMLS:C4274902 semapv:UnspecifiedMatching +Orphanet:1450 Ring chromosome 8 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:1451 CINCA syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:1451 CINCA syndrome oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:1451 CINCA syndrome oboInOwl:hasDbXref MedDRA:10064568 semapv:UnspecifiedMatching @@ -8306,14 +8282,10 @@ Orphanet:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref OMIM:61911 Orphanet:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref OMIM:619113 semapv:UnspecifiedMatching Orphanet:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref UMLS:C1857662 semapv:UnspecifiedMatching Orphanet:1454 Joubert syndrome with hepatic defect oboInOwl:hasDbXref icd11:LD20.0Y semapv:UnspecifiedMatching -Orphanet:1455 Autosomal dominant coarctation of aorta oboInOwl:hasDbXref ICD10:Q25.1 semapv:UnspecifiedMatching -Orphanet:1455 Autosomal dominant coarctation of aorta oboInOwl:hasDbXref ICD10:Q25.1 semapv:UnspecifiedMatching -Orphanet:1455 Autosomal dominant coarctation of aorta oboInOwl:hasDbXref UMLS:C2930803 semapv:UnspecifiedMatching -Orphanet:1455 Autosomal dominant coarctation of aorta oboInOwl:hasDbXref icd11:LA8B.21 semapv:UnspecifiedMatching -Orphanet:1456 Atypical coarctation of aorta oboInOwl:hasDbXref ICD10:Q25.1 semapv:UnspecifiedMatching -Orphanet:1456 Atypical coarctation of aorta oboInOwl:hasDbXref ICD10:Q25.1 semapv:UnspecifiedMatching -Orphanet:1456 Atypical coarctation of aorta oboInOwl:hasDbXref UMLS:C3496579 semapv:UnspecifiedMatching -Orphanet:1456 Atypical coarctation of aorta oboInOwl:hasDbXref icd11:LA8B.21 semapv:UnspecifiedMatching +Orphanet:1456 Middle aortic syndrome oboInOwl:hasDbXref ICD10:Q25.1 semapv:UnspecifiedMatching +Orphanet:1456 Middle aortic syndrome oboInOwl:hasDbXref ICD10:Q25.1 semapv:UnspecifiedMatching +Orphanet:1456 Middle aortic syndrome oboInOwl:hasDbXref UMLS:C3496579 semapv:UnspecifiedMatching +Orphanet:1456 Middle aortic syndrome oboInOwl:hasDbXref icd11:LA8B.21 semapv:UnspecifiedMatching Orphanet:1457 Aorta coarctation oboInOwl:hasDbXref ICD10:Q25.1 semapv:UnspecifiedMatching Orphanet:1457 Aorta coarctation oboInOwl:hasDbXref ICD10:Q25.1 semapv:UnspecifiedMatching Orphanet:1457 Aorta coarctation oboInOwl:hasDbXref MESH:D001017 semapv:UnspecifiedMatching @@ -8363,6 +8335,7 @@ Orphanet:1463 Triatrial heart oboInOwl:hasDbXref MedDRA:10010972 semapv:Unspecif Orphanet:1463 Triatrial heart oboInOwl:hasDbXref UMLS:C0009995 semapv:UnspecifiedMatching Orphanet:1464 Univentricular heart oboInOwl:hasDbXref ICD10:Q20.4 semapv:UnspecifiedMatching Orphanet:1464 Univentricular heart oboInOwl:hasDbXref ICD10:Q20.4 semapv:UnspecifiedMatching +Orphanet:1464 Univentricular heart oboInOwl:hasDbXref MESH:D000080039 semapv:UnspecifiedMatching Orphanet:1464 Univentricular heart oboInOwl:hasDbXref MedDRA:10045545 semapv:UnspecifiedMatching Orphanet:1464 Univentricular heart oboInOwl:hasDbXref UMLS:C0152424 semapv:UnspecifiedMatching Orphanet:1464 Univentricular heart oboInOwl:hasDbXref icd11:LA89.0 semapv:UnspecifiedMatching @@ -8390,6 +8363,7 @@ Orphanet:1466 COFS syndrome oboInOwl:hasDbXref OMIM:278780 semapv:UnspecifiedMat Orphanet:1466 COFS syndrome oboInOwl:hasDbXref OMIM:610756 semapv:UnspecifiedMatching Orphanet:1466 COFS syndrome oboInOwl:hasDbXref OMIM:610758 semapv:UnspecifiedMatching Orphanet:1466 COFS syndrome oboInOwl:hasDbXref OMIM:616570 semapv:UnspecifiedMatching +Orphanet:1466 COFS syndrome oboInOwl:hasDbXref UMLS:C5399761 semapv:UnspecifiedMatching Orphanet:1466 COFS syndrome oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching Orphanet:1467 Cogan syndrome oboInOwl:hasDbXref ICD10:H16.3 semapv:UnspecifiedMatching Orphanet:1467 Cogan syndrome oboInOwl:hasDbXref ICD10:H16.3 semapv:UnspecifiedMatching @@ -8672,8 +8646,6 @@ Orphanet:1532 Gómez-López-Hernández syndrome oboInOwl:hasDbXref ICD10:Q07.8 s Orphanet:1532 Gómez-López-Hernández syndrome oboInOwl:hasDbXref MESH:C537285 semapv:UnspecifiedMatching Orphanet:1532 Gómez-López-Hernández syndrome oboInOwl:hasDbXref OMIM:601853 semapv:UnspecifiedMatching Orphanet:1532 Gómez-López-Hernández syndrome oboInOwl:hasDbXref UMLS:C0795959 semapv:UnspecifiedMatching -Orphanet:1535 Craniosynostosis-dysmorphism-brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -Orphanet:1535 Craniosynostosis-dysmorphism-brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching Orphanet:1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome oboInOwl:hasDbXref OMIM:123155 semapv:UnspecifiedMatching @@ -8782,10 +8754,6 @@ Orphanet:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome obo Orphanet:1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4707233 semapv:UnspecifiedMatching Orphanet:1549 NON RARE IN EUROPE: Cryptosporidiosis oboInOwl:hasDbXref ICD10:A07.2 semapv:UnspecifiedMatching Orphanet:1549 NON RARE IN EUROPE: Cryptosporidiosis oboInOwl:hasDbXref ICD10:A07.2 semapv:UnspecifiedMatching -Orphanet:155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy oboInOwl:hasDbXref ICD10:I42.1 semapv:UnspecifiedMatching -Orphanet:155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy oboInOwl:hasDbXref ICD10:I42.1 semapv:UnspecifiedMatching -Orphanet:155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy oboInOwl:hasDbXref ICD10:I42.2 semapv:UnspecifiedMatching -Orphanet:155 NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy oboInOwl:hasDbXref ICD10:I42.2 semapv:UnspecifiedMatching Orphanet:1551 Familial benign copper deficiency oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching Orphanet:1551 Familial benign copper deficiency oboInOwl:hasDbXref ICD10:E83.0 semapv:UnspecifiedMatching Orphanet:1551 Familial benign copper deficiency oboInOwl:hasDbXref MESH:C535468 semapv:UnspecifiedMatching @@ -8815,7 +8783,6 @@ Orphanet:1556 Cutis marmorata telangiectatica congenita oboInOwl:hasDbXref MESH: Orphanet:1556 Cutis marmorata telangiectatica congenita oboInOwl:hasDbXref OMIM:219250 semapv:UnspecifiedMatching Orphanet:1556 Cutis marmorata telangiectatica congenita oboInOwl:hasDbXref UMLS:C0345419 semapv:UnspecifiedMatching Orphanet:1556 Cutis marmorata telangiectatica congenita oboInOwl:hasDbXref icd11:LC52 semapv:UnspecifiedMatching -Orphanet:1557 Cutis verticis gyrata-intellectual disability syndrome oboInOwl:hasDbXref OMIM:219300 semapv:UnspecifiedMatching Orphanet:155832 Rare head and neck malformation oboInOwl:hasDbXref UMLS:C5680631 semapv:UnspecifiedMatching Orphanet:155835 Cysts and fistulae of the face and oral cavity oboInOwl:hasDbXref UMLS:C5680632 semapv:UnspecifiedMatching Orphanet:155838 Pinnae fistula or cyst oboInOwl:hasDbXref ICD10:Q18.1 semapv:UnspecifiedMatching @@ -8858,6 +8825,7 @@ Orphanet:1560 Cysticercosis oboInOwl:hasDbXref ICD10:B69.9 semapv:UnspecifiedMat Orphanet:1560 Cysticercosis oboInOwl:hasDbXref MESH:D003551 semapv:UnspecifiedMatching Orphanet:1560 Cysticercosis oboInOwl:hasDbXref MedDRA:10011775 semapv:UnspecifiedMatching Orphanet:1560 Cysticercosis oboInOwl:hasDbXref UMLS:C0010678 semapv:UnspecifiedMatching +Orphanet:1560 Cysticercosis oboInOwl:hasDbXref icd11:1F70 semapv:UnspecifiedMatching Orphanet:1560 Cysticercosis oboInOwl:hasDbXref icd11:1F70.0 semapv:UnspecifiedMatching Orphanet:1560 Cysticercosis oboInOwl:hasDbXref icd11:1F70.00 semapv:UnspecifiedMatching Orphanet:1560 Cysticercosis oboInOwl:hasDbXref icd11:1F70.1 semapv:UnspecifiedMatching @@ -8881,8 +8849,6 @@ Orphanet:156149 Immune complex mediated vasculitis oboInOwl:hasDbXref UMLS:C5680 Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis oboInOwl:hasDbXref MESH:D056648 semapv:UnspecifiedMatching Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis oboInOwl:hasDbXref UMLS:C2717865 semapv:UnspecifiedMatching Orphanet:156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis oboInOwl:hasDbXref icd11:4A44.A semapv:UnspecifiedMatching -Orphanet:156156 Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching -Orphanet:156156 Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:156159 Isolated dystonia oboInOwl:hasDbXref UMLS:C5679608 semapv:UnspecifiedMatching Orphanet:156162 Renal ciliopathy oboInOwl:hasDbXref UMLS:C5680652 semapv:UnspecifiedMatching Orphanet:156165 Retinal ciliopathy oboInOwl:hasDbXref UMLS:C5680651 semapv:UnspecifiedMatching @@ -8892,12 +8858,6 @@ Orphanet:156174 Retinal ciliopathy due to mutation in the RPGRIP gene oboInOwl:h Orphanet:156177 Retinal ciliopathy due to mutation in Usher gene oboInOwl:hasDbXref UMLS:C5680671 semapv:UnspecifiedMatching Orphanet:156180 Retinal ciliopathy due to mutation in nephronophthisis gene oboInOwl:hasDbXref UMLS:C5680666 semapv:UnspecifiedMatching Orphanet:156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene oboInOwl:hasDbXref UMLS:C5680667 semapv:UnspecifiedMatching -Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome oboInOwl:hasDbXref MESH:C536061 semapv:UnspecifiedMatching -Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome oboInOwl:hasDbXref OMIM:166705 semapv:UnspecifiedMatching -Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome oboInOwl:hasDbXref UMLS:C1833698 semapv:UnspecifiedMatching -Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching Orphanet:156202 Otomandibular dysplasia associated with monogenic syndromes oboInOwl:hasDbXref UMLS:C5680668 semapv:UnspecifiedMatching Orphanet:156207 Macroglossia oboInOwl:hasDbXref ICD10:Q38.2 semapv:UnspecifiedMatching Orphanet:156207 Macroglossia oboInOwl:hasDbXref ICD10:Q38.2 semapv:UnspecifiedMatching @@ -8928,8 +8888,6 @@ Orphanet:1563 Dahlberg-Borer-Newcomer syndrome oboInOwl:hasDbXref MESH:C535769 s Orphanet:1563 Dahlberg-Borer-Newcomer syndrome oboInOwl:hasDbXref OMIM:247410 semapv:UnspecifiedMatching Orphanet:1563 Dahlberg-Borer-Newcomer syndrome oboInOwl:hasDbXref UMLS:C1855477 semapv:UnspecifiedMatching Orphanet:1563 Dahlberg-Borer-Newcomer syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching -Orphanet:1564 Dandy-Walker malformation-facial hemangioma syndrome oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching -Orphanet:1564 Dandy-Walker malformation-facial hemangioma syndrome oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching Orphanet:156532 Rare syndrome with cardiac malformations oboInOwl:hasDbXref UMLS:C5680646 semapv:UnspecifiedMatching Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1566 Dandy-Walker malformation-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -8945,8 +8903,6 @@ Orphanet:156622 Genetic urogenital tract malformation oboInOwl:hasDbXref UMLS:C5 Orphanet:156629 Rare genetic cause of hypertension oboInOwl:hasDbXref UMLS:C5680639 semapv:UnspecifiedMatching Orphanet:156638 Rare genetic endocrine disease oboInOwl:hasDbXref UMLS:C5680638 semapv:UnspecifiedMatching Orphanet:156643 Genetic endocrine growth disease oboInOwl:hasDbXref UMLS:C5680637 semapv:UnspecifiedMatching -Orphanet:156723 Piepkorn dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -Orphanet:156723 Piepkorn dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type oboInOwl:hasDbXref MESH:C563869 semapv:UnspecifiedMatching @@ -9053,9 +9009,6 @@ Orphanet:157769 Situs ambiguus oboInOwl:hasDbXref ICD10:Q89.3 semapv:Unspecified Orphanet:157769 Situs ambiguus oboInOwl:hasDbXref ICD10:Q89.3 semapv:UnspecifiedMatching Orphanet:157769 Situs ambiguus oboInOwl:hasDbXref MedDRA:10059119 semapv:UnspecifiedMatching Orphanet:157769 Situs ambiguus oboInOwl:hasDbXref UMLS:C0266642 semapv:UnspecifiedMatching -Orphanet:157788 Hypospadias-hypertelorism-coloboma and deafness syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -Orphanet:157788 Hypospadias-hypertelorism-coloboma and deafness syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -Orphanet:157788 Hypospadias-hypertelorism-coloboma and deafness syndrome oboInOwl:hasDbXref OMIM:211380 semapv:UnspecifiedMatching Orphanet:157788 Hypospadias-hypertelorism-coloboma and deafness syndrome oboInOwl:hasDbXref UMLS:C1863870 semapv:UnspecifiedMatching Orphanet:157791 Epithelioid hemangioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching Orphanet:157791 Epithelioid hemangioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching @@ -9088,9 +9041,9 @@ Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction oboInO Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction oboInOwl:hasDbXref OMIM:609432 semapv:UnspecifiedMatching Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction oboInOwl:hasDbXref UMLS:C1836206 semapv:UnspecifiedMatching Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction oboInOwl:hasDbXref icd11:LB79.Y semapv:UnspecifiedMatching -Orphanet:157808 Congenital pseudoarthrosis of the limbs oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -Orphanet:157808 Congenital pseudoarthrosis of the limbs oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -Orphanet:157808 Congenital pseudoarthrosis of the limbs oboInOwl:hasDbXref UMLS:C5190522 semapv:UnspecifiedMatching +Orphanet:157808 Isolated pseudoarthrosis of the limbs oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:157808 Isolated pseudoarthrosis of the limbs oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:157808 Isolated pseudoarthrosis of the limbs oboInOwl:hasDbXref UMLS:C5190522 semapv:UnspecifiedMatching Orphanet:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching Orphanet:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching Orphanet:157820 Cold-induced sweating syndrome oboInOwl:hasDbXref OMIM:272430 semapv:UnspecifiedMatching @@ -9133,9 +9086,6 @@ Orphanet:157850 Pantothenate kinase-associated neurodegeneration oboInOwl:hasDbX Orphanet:157850 Pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref OMIM:234200 semapv:UnspecifiedMatching Orphanet:157850 Pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref UMLS:C0018523 semapv:UnspecifiedMatching Orphanet:157850 Pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref icd11:5C64.10 semapv:UnspecifiedMatching -Orphanet:157855 HARP syndrome oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching -Orphanet:157855 HARP syndrome oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching -Orphanet:157855 HARP syndrome oboInOwl:hasDbXref OMIM:607236 semapv:UnspecifiedMatching Orphanet:157855 HARP syndrome oboInOwl:hasDbXref UMLS:C1846582 semapv:UnspecifiedMatching Orphanet:157941 Huntington disease-like 1 oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching Orphanet:157941 Huntington disease-like 1 oboInOwl:hasDbXref ICD10:G10 semapv:UnspecifiedMatching @@ -9173,24 +9123,6 @@ Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation oboInOwl:hasD Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref MESH:C567708 semapv:UnspecifiedMatching Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref OMIM:613205 semapv:UnspecifiedMatching Orphanet:157973 Congenital muscular dystrophy due to LMNA mutation oboInOwl:hasDbXref UMLS:C2750785 semapv:UnspecifiedMatching -Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.0 semapv:UnspecifiedMatching -Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.0 semapv:UnspecifiedMatching -Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.1 semapv:UnspecifiedMatching -Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.1 semapv:UnspecifiedMatching -Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.2 semapv:UnspecifiedMatching -Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.2 semapv:UnspecifiedMatching -Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.3 semapv:UnspecifiedMatching -Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.3 semapv:UnspecifiedMatching -Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.4 semapv:UnspecifiedMatching -Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.4 semapv:UnspecifiedMatching -Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.5 semapv:UnspecifiedMatching -Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.5 semapv:UnspecifiedMatching -Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.6 semapv:UnspecifiedMatching -Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.6 semapv:UnspecifiedMatching -Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.7 semapv:UnspecifiedMatching -Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.7 semapv:UnspecifiedMatching -Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.8 semapv:UnspecifiedMatching -Orphanet:157980 NON RARE IN EUROPE: Bladder cancer oboInOwl:hasDbXref ICD10:C67.8 semapv:UnspecifiedMatching Orphanet:157987 Non-Langerhans cell histiocytosis oboInOwl:hasDbXref MESH:D015616 semapv:UnspecifiedMatching Orphanet:157987 Non-Langerhans cell histiocytosis oboInOwl:hasDbXref UMLS:C0019624 semapv:UnspecifiedMatching Orphanet:157991 Generalized eruptive histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching @@ -9235,12 +9167,12 @@ Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref ICD10:D76.3 semapv:Uns Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref MESH:D015618 semapv:UnspecifiedMatching Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref MedDRA:10063397 semapv:UnspecifiedMatching -Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref OMIM:602782 semapv:UnspecifiedMatching Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref UMLS:C0019625 semapv:UnspecifiedMatching Orphanet:158014 Rosaï-Dorfman disease oboInOwl:hasDbXref icd11:EK92 semapv:UnspecifiedMatching Orphanet:158019 Indeterminate cell histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:158019 Indeterminate cell histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:158019 Indeterminate cell histiocytosis oboInOwl:hasDbXref UMLS:C2825741 semapv:UnspecifiedMatching +Orphanet:158019 Indeterminate cell histiocytosis oboInOwl:hasDbXref icd11:2B31.6 semapv:UnspecifiedMatching Orphanet:158022 Progressive nodular histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:158022 Progressive nodular histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching Orphanet:158022 Progressive nodular histiocytosis oboInOwl:hasDbXref UMLS:C4707331 semapv:UnspecifiedMatching @@ -9357,6 +9289,7 @@ Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome oboInOwl:hasDbXref Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome oboInOwl:hasDbXref MESH:C536183 semapv:UnspecifiedMatching Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome oboInOwl:hasDbXref OMIM:604536 semapv:UnspecifiedMatching Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome oboInOwl:hasDbXref UMLS:C1858302 semapv:UnspecifiedMatching +Orphanet:158668 Ectodermal dysplasia-skin fragility syndrome oboInOwl:hasDbXref icd11:EC30 semapv:UnspecifiedMatching Orphanet:158673 Localized dystrophic epidermolysis bullosa, acral form oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching Orphanet:158673 Localized dystrophic epidermolysis bullosa, acral form oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching Orphanet:158673 Localized dystrophic epidermolysis bullosa, acral form oboInOwl:hasDbXref UMLS:C4518087 semapv:UnspecifiedMatching @@ -9403,6 +9336,7 @@ Orphanet:158772 Nodular urticaria pigmentosa oboInOwl:hasDbXref icd11:2A21.10 se Orphanet:158775 Smoldering systemic mastocytosis oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching Orphanet:158775 Smoldering systemic mastocytosis oboInOwl:hasDbXref ICD10:C96.2 semapv:UnspecifiedMatching Orphanet:158775 Smoldering systemic mastocytosis oboInOwl:hasDbXref UMLS:C3897042 semapv:UnspecifiedMatching +Orphanet:158775 Smoldering systemic mastocytosis oboInOwl:hasDbXref icd11:2A21.0Y semapv:UnspecifiedMatching Orphanet:158778 Isolated bone marrow mastocytosis oboInOwl:hasDbXref ICD10:D47.0 semapv:UnspecifiedMatching Orphanet:158778 Isolated bone marrow mastocytosis oboInOwl:hasDbXref ICD10:D47.0 semapv:UnspecifiedMatching Orphanet:158778 Isolated bone marrow mastocytosis oboInOwl:hasDbXref UMLS:C4509020 semapv:UnspecifiedMatching @@ -9447,9 +9381,6 @@ Orphanet:159084 ubiquitin recognition factor in ER associated degradation 1 oboI Orphanet:159087 vinculin oboInOwl:hasDbXref ENSEMBL:ENSG00000035403 semapv:UnspecifiedMatching Orphanet:159087 vinculin oboInOwl:hasDbXref OMIM:193065 semapv:UnspecifiedMatching Orphanet:159087 vinculin oboInOwl:hasDbXref uniprot:P18206 semapv:UnspecifiedMatching -Orphanet:159118 zinc finger protein 41 oboInOwl:hasDbXref ENSEMBL:ENSG00000147124 semapv:UnspecifiedMatching -Orphanet:159118 zinc finger protein 41 oboInOwl:hasDbXref OMIM:314995 semapv:UnspecifiedMatching -Orphanet:159118 zinc finger protein 41 oboInOwl:hasDbXref uniprot:P51814 semapv:UnspecifiedMatching Orphanet:159122 small nucleolar RNA, C/D box 116 cluster oboInOwl:hasDbXref OMIM:605436 semapv:UnspecifiedMatching Orphanet:159134 activator of transcription and developmental regulator AUTS2 oboInOwl:hasDbXref ENSEMBL:ENSG00000158321 semapv:UnspecifiedMatching Orphanet:159134 activator of transcription and developmental regulator AUTS2 oboInOwl:hasDbXref OMIM:607270 semapv:UnspecifiedMatching @@ -9814,6 +9745,7 @@ Orphanet:159984 PNKD metallo-beta-lactamase domain containing oboInOwl:hasDbXref Orphanet:159984 PNKD metallo-beta-lactamase domain containing oboInOwl:hasDbXref uniprot:Q8N490 semapv:UnspecifiedMatching Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching +Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref MESH:C536238 semapv:UnspecifiedMatching Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref OMIM:303700 semapv:UnspecifiedMatching Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref UMLS:C0339537 semapv:UnspecifiedMatching Orphanet:16 Blue cone monochromatism oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching @@ -9853,12 +9785,12 @@ Orphanet:160055 beaded filament structural protein 1 oboInOwl:hasDbXref uniprot: Orphanet:160064 complement C3 oboInOwl:hasDbXref ENSEMBL:ENSG00000125730 semapv:UnspecifiedMatching Orphanet:160064 complement C3 oboInOwl:hasDbXref OMIM:120700 semapv:UnspecifiedMatching Orphanet:160064 complement C3 oboInOwl:hasDbXref uniprot:P01024 semapv:UnspecifiedMatching -Orphanet:160067 complement C4A (Rodgers blood group) oboInOwl:hasDbXref ENSEMBL:ENSG00000244731 semapv:UnspecifiedMatching -Orphanet:160067 complement C4A (Rodgers blood group) oboInOwl:hasDbXref OMIM:120810 semapv:UnspecifiedMatching -Orphanet:160067 complement C4A (Rodgers blood group) oboInOwl:hasDbXref uniprot:P0C0L4 semapv:UnspecifiedMatching -Orphanet:160082 complement C4B (Chido blood group) oboInOwl:hasDbXref ENSEMBL:ENSG00000224389 semapv:UnspecifiedMatching -Orphanet:160082 complement C4B (Chido blood group) oboInOwl:hasDbXref OMIM:120820 semapv:UnspecifiedMatching -Orphanet:160082 complement C4B (Chido blood group) oboInOwl:hasDbXref uniprot:P0C0L5 semapv:UnspecifiedMatching +Orphanet:160067 complement C4A (Chido/Rodgers blood group) oboInOwl:hasDbXref ENSEMBL:ENSG00000244731 semapv:UnspecifiedMatching +Orphanet:160067 complement C4A (Chido/Rodgers blood group) oboInOwl:hasDbXref OMIM:120810 semapv:UnspecifiedMatching +Orphanet:160067 complement C4A (Chido/Rodgers blood group) oboInOwl:hasDbXref uniprot:P0C0L4 semapv:UnspecifiedMatching +Orphanet:160082 complement C4B (Chido/Rodgers blood group) oboInOwl:hasDbXref ENSEMBL:ENSG00000224389 semapv:UnspecifiedMatching +Orphanet:160082 complement C4B (Chido/Rodgers blood group) oboInOwl:hasDbXref OMIM:120820 semapv:UnspecifiedMatching +Orphanet:160082 complement C4B (Chido/Rodgers blood group) oboInOwl:hasDbXref uniprot:P0C0L5 semapv:UnspecifiedMatching Orphanet:160093 complement C5 oboInOwl:hasDbXref ENSEMBL:ENSG00000106804 semapv:UnspecifiedMatching Orphanet:160093 complement C5 oboInOwl:hasDbXref OMIM:120900 semapv:UnspecifiedMatching Orphanet:160093 complement C5 oboInOwl:hasDbXref uniprot:P01031 semapv:UnspecifiedMatching @@ -9956,14 +9888,14 @@ Orphanet:1606 1p36 deletion syndrome oboInOwl:hasDbXref OMIM:607872 semapv:Unspe Orphanet:1606 1p36 deletion syndrome oboInOwl:hasDbXref OMIM:616975 semapv:UnspecifiedMatching Orphanet:1606 1p36 deletion syndrome oboInOwl:hasDbXref UMLS:C1842870 semapv:UnspecifiedMatching Orphanet:1606 1p36 deletion syndrome oboInOwl:hasDbXref icd11:LD44.11 semapv:UnspecifiedMatching -Orphanet:1617 2q24 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -Orphanet:1617 2q24 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -Orphanet:1617 2q24 microdeletion syndrome oboInOwl:hasDbXref MESH:C538316 semapv:UnspecifiedMatching -Orphanet:1617 2q24 microdeletion syndrome oboInOwl:hasDbXref UMLS:C2931816 semapv:UnspecifiedMatching -Orphanet:1617 2q24 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.20 semapv:UnspecifiedMatching -Orphanet:162 Cataract-glaucoma syndrome oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching -Orphanet:162 Cataract-glaucoma syndrome oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching -Orphanet:162 Cataract-glaucoma syndrome oboInOwl:hasDbXref UMLS:C4305131 semapv:UnspecifiedMatching +Orphanet:1617 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1617 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:1617 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion oboInOwl:hasDbXref MESH:C538316 semapv:UnspecifiedMatching +Orphanet:1617 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion oboInOwl:hasDbXref UMLS:C2931816 semapv:UnspecifiedMatching +Orphanet:1617 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion oboInOwl:hasDbXref icd11:LD44.20 semapv:UnspecifiedMatching +Orphanet:162 Congenital cataract-anterior segment dysgenesis syndrome oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching +Orphanet:162 Congenital cataract-anterior segment dysgenesis syndrome oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching +Orphanet:162 Congenital cataract-anterior segment dysgenesis syndrome oboInOwl:hasDbXref UMLS:C4305131 semapv:UnspecifiedMatching Orphanet:1620 Distal deletion 3p oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1620 Distal deletion 3p oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1620 Distal deletion 3p oboInOwl:hasDbXref OMIM:613792 semapv:UnspecifiedMatching @@ -10023,14 +9955,14 @@ Orphanet:163634 Maffucci syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:Unspec Orphanet:163637 Rare disorder related with pregnancy, childbirth and puerperium oboInOwl:hasDbXref UMLS:C5680447 semapv:UnspecifiedMatching Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome oboInOwl:hasDbXref OMIM:602611 semapv:UnspecifiedMatching -Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome oboInOwl:hasDbXref OMIM:618618 semapv:UnspecifiedMatching Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4305147 semapv:UnspecifiedMatching +Orphanet:163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome oboInOwl:hasDbXref MESH:C567128 semapv:UnspecifiedMatching Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome oboInOwl:hasDbXref OMIM:611717 semapv:UnspecifiedMatching Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome oboInOwl:hasDbXref UMLS:C2673649 semapv:UnspecifiedMatching +Orphanet:163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:163662 Spondyloepiphyseal dysplasia, Reardon type oboInOwl:hasDbXref OMIM:600561 semapv:UnspecifiedMatching @@ -10046,8 +9978,6 @@ Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type oboInOwl:hasDbXref Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type oboInOwl:hasDbXref OMIM:184000 semapv:UnspecifiedMatching Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type oboInOwl:hasDbXref UMLS:C4305149 semapv:UnspecifiedMatching Orphanet:163668 Spondyloepiphyseal dysplasia, MacDermot type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching -Orphanet:163673 Spondyloepiphyseal dysplasia, Byers type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -Orphanet:163673 Spondyloepiphyseal dysplasia, Byers type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:163673 Spondyloepiphyseal dysplasia, Byers type oboInOwl:hasDbXref OMIM:183850 semapv:UnspecifiedMatching Orphanet:163673 Spondyloepiphyseal dysplasia, Byers type oboInOwl:hasDbXref UMLS:C1866727 semapv:UnspecifiedMatching Orphanet:163681 CNTNAP2-related developmental and epileptic encephalopathy oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching @@ -10136,8 +10066,6 @@ Orphanet:163937 X-linked intellectual disability, Najm type oboInOwl:hasDbXref I Orphanet:163937 X-linked intellectual disability, Najm type oboInOwl:hasDbXref OMIM:300749 semapv:UnspecifiedMatching Orphanet:163937 X-linked intellectual disability, Najm type oboInOwl:hasDbXref UMLS:C2677903 semapv:UnspecifiedMatching Orphanet:163937 X-linked intellectual disability, Najm type oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching -Orphanet:163953 X-linked intellectual disability, Raymond type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:163953 X-linked intellectual disability, Raymond type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:163953 X-linked intellectual disability, Raymond type oboInOwl:hasDbXref OMIM:300799 semapv:UnspecifiedMatching Orphanet:163956 X-linked intellectual disability, Nascimento type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:163956 X-linked intellectual disability, Nascimento type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -10166,15 +10094,11 @@ Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome ob Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome oboInOwl:hasDbXref OMIM:300712 semapv:UnspecifiedMatching Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome oboInOwl:hasDbXref UMLS:C4750743 semapv:UnspecifiedMatching Orphanet:163979 X-linked intellectual disability-craniofacioskeletal syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching -Orphanet:163982 X-linked intellectual disability-spastic quadriparesis syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -Orphanet:163982 X-linked intellectual disability-spastic quadriparesis syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:163982 X-linked intellectual disability-spastic quadriparesis syndrome oboInOwl:hasDbXref OMIM:309640 semapv:UnspecifiedMatching Orphanet:163985 Hyperekplexia-epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching Orphanet:163985 Hyperekplexia-epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching Orphanet:163985 Hyperekplexia-epilepsy syndrome oboInOwl:hasDbXref OMIM:300607 semapv:UnspecifiedMatching Orphanet:163985 Hyperekplexia-epilepsy syndrome oboInOwl:hasDbXref UMLS:C5191643 semapv:UnspecifiedMatching -Orphanet:164 NON RARE IN EUROPE: Cerebral cavernous malformations oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching -Orphanet:164 NON RARE IN EUROPE: Cerebral cavernous malformations oboInOwl:hasDbXref ICD10:Q28.2 semapv:UnspecifiedMatching Orphanet:164001 Rare odontal or periodontal disorder oboInOwl:hasDbXref UMLS:C5680435 semapv:UnspecifiedMatching Orphanet:164004 Middle and/or inner ear anomaly oboInOwl:hasDbXref MedDRA:10060957 semapv:UnspecifiedMatching Orphanet:164004 Middle and/or inner ear anomaly oboInOwl:hasDbXref UMLS:C0266599 semapv:UnspecifiedMatching @@ -10185,13 +10109,13 @@ Orphanet:1642 Distal deletion 9p oboInOwl:hasDbXref UMLS:C0265425 semapv:Unspeci Orphanet:1643 Xp22.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:1643 Xp22.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:1643 Xp22.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4512072 semapv:UnspecifiedMatching -Orphanet:1646 Partial chromosome Y deletion oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching -Orphanet:1646 Partial chromosome Y deletion oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching -Orphanet:1646 Partial chromosome Y deletion oboInOwl:hasDbXref MESH:C536297 semapv:UnspecifiedMatching -Orphanet:1646 Partial chromosome Y deletion oboInOwl:hasDbXref OMIM:400042 semapv:UnspecifiedMatching -Orphanet:1646 Partial chromosome Y deletion oboInOwl:hasDbXref OMIM:415000 semapv:UnspecifiedMatching -Orphanet:1646 Partial chromosome Y deletion oboInOwl:hasDbXref UMLS:C1507149 semapv:UnspecifiedMatching -Orphanet:1646 Partial chromosome Y deletion oboInOwl:hasDbXref icd11:5A81.1 semapv:UnspecifiedMatching +Orphanet:1646 Chromosome Y microdeletion oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching +Orphanet:1646 Chromosome Y microdeletion oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching +Orphanet:1646 Chromosome Y microdeletion oboInOwl:hasDbXref MESH:C536297 semapv:UnspecifiedMatching +Orphanet:1646 Chromosome Y microdeletion oboInOwl:hasDbXref OMIM:400042 semapv:UnspecifiedMatching +Orphanet:1646 Chromosome Y microdeletion oboInOwl:hasDbXref OMIM:415000 semapv:UnspecifiedMatching +Orphanet:1646 Chromosome Y microdeletion oboInOwl:hasDbXref UMLS:C1507149 semapv:UnspecifiedMatching +Orphanet:1646 Chromosome Y microdeletion oboInOwl:hasDbXref icd11:5A81.1 semapv:UnspecifiedMatching Orphanet:1647 Oculocerebrocutaneous syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1647 Oculocerebrocutaneous syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1647 Oculocerebrocutaneous syndrome oboInOwl:hasDbXref MESH:C538088 semapv:UnspecifiedMatching @@ -10212,8 +10136,6 @@ Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref OMIM:6 Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref OMIM:620015 semapv:UnspecifiedMatching Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref UMLS:C1858496 semapv:UnspecifiedMatching Orphanet:164736 Familial advanced sleep-phase syndrome oboInOwl:hasDbXref icd11:7A6Z semapv:UnspecifiedMatching -Orphanet:1648 NON RARE IN EUROPE: Dementia with Lewy body oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -Orphanet:1648 NON RARE IN EUROPE: Dementia with Lewy body oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:164823 Rare acquired aplastic anemia oboInOwl:hasDbXref UMLS:C5680440 semapv:UnspecifiedMatching Orphanet:165 Neutral lipid storage disease oboInOwl:hasDbXref icd11:5C52.2 semapv:UnspecifiedMatching Orphanet:1652 Dent disease oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching @@ -10308,6 +10230,10 @@ Orphanet:165955 Wound myiasis oboInOwl:hasDbXref icd11:1G01.3 semapv:Unspecified Orphanet:165958 Cavitary myiasis oboInOwl:hasDbXref ICD10:B87.8 semapv:UnspecifiedMatching Orphanet:165958 Cavitary myiasis oboInOwl:hasDbXref ICD10:B87.8 semapv:UnspecifiedMatching Orphanet:165958 Cavitary myiasis oboInOwl:hasDbXref UMLS:C4707154 semapv:UnspecifiedMatching +Orphanet:165958 Cavitary myiasis oboInOwl:hasDbXref icd11:1G01.0 semapv:UnspecifiedMatching +Orphanet:165958 Cavitary myiasis oboInOwl:hasDbXref icd11:1G01.1 semapv:UnspecifiedMatching +Orphanet:165958 Cavitary myiasis oboInOwl:hasDbXref icd11:1G01.2 semapv:UnspecifiedMatching +Orphanet:165958 Cavitary myiasis oboInOwl:hasDbXref icd11:1G01.Y semapv:UnspecifiedMatching Orphanet:165966 cholinergic receptor nicotinic beta 2 subunit oboInOwl:hasDbXref ENSEMBL:ENSG00000160716 semapv:UnspecifiedMatching Orphanet:165966 cholinergic receptor nicotinic beta 2 subunit oboInOwl:hasDbXref OMIM:118507 semapv:UnspecifiedMatching Orphanet:165966 cholinergic receptor nicotinic beta 2 subunit oboInOwl:hasDbXref uniprot:P17787 semapv:UnspecifiedMatching @@ -10322,9 +10248,6 @@ Orphanet:165991 Exercise-induced hyperinsulinism oboInOwl:hasDbXref MESH:C538376 Orphanet:165991 Exercise-induced hyperinsulinism oboInOwl:hasDbXref OMIM:610021 semapv:UnspecifiedMatching Orphanet:165991 Exercise-induced hyperinsulinism oboInOwl:hasDbXref UMLS:C1864902 semapv:UnspecifiedMatching Orphanet:165991 Exercise-induced hyperinsulinism oboInOwl:hasDbXref icd11:5A45 semapv:UnspecifiedMatching -Orphanet:165994 Pituitary resistance to thyroid hormone oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching -Orphanet:165994 Pituitary resistance to thyroid hormone oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching -Orphanet:165994 Pituitary resistance to thyroid hormone oboInOwl:hasDbXref OMIM:145650 semapv:UnspecifiedMatching Orphanet:165994 Pituitary resistance to thyroid hormone oboInOwl:hasDbXref UMLS:C1840364 semapv:UnspecifiedMatching Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy oboInOwl:hasDbXref MESH:D002607 semapv:UnspecifiedMatching Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy oboInOwl:hasDbXref MedDRA:10034699 semapv:UnspecifiedMatching @@ -10343,33 +10266,30 @@ Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref OMIM:614135 semapv:UnspecifiedMatching Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref UMLS:C4707798 semapv:UnspecifiedMatching Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching -Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type oboInOwl:hasDbXref OMIM:132450 semapv:UnspecifiedMatching Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type oboInOwl:hasDbXref UMLS:C4304499 semapv:UnspecifiedMatching -Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type oboInOwl:hasDbXref MESH:C563291 semapv:UnspecifiedMatching Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type oboInOwl:hasDbXref OMIM:601560 semapv:UnspecifiedMatching Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type oboInOwl:hasDbXref UMLS:C1832112 semapv:UnspecifiedMatching -Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type oboInOwl:hasDbXref OMIM:607131 semapv:UnspecifiedMatching -Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type oboInOwl:hasDbXref UMLS:C4304500 semapv:UnspecifiedMatching -Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching -Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref MESH:C563736 semapv:UnspecifiedMatching -Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref OMIM:609324 semapv:UnspecifiedMatching -Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref UMLS:C1836315 semapv:UnspecifiedMatching -Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching -Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref MESH:C563735 semapv:UnspecifiedMatching -Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref OMIM:609325 semapv:UnspecifiedMatching -Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref UMLS:C1836307 semapv:UnspecifiedMatching -Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching +Orphanet:166024 Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:166024 Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:166024 Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:607131 semapv:UnspecifiedMatching +Orphanet:166024 Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4304500 semapv:UnspecifiedMatching +Orphanet:166024 Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching +Orphanet:166029 Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:166029 Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:166029 Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome oboInOwl:hasDbXref MESH:C563736 semapv:UnspecifiedMatching +Orphanet:166029 Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome oboInOwl:hasDbXref OMIM:609324 semapv:UnspecifiedMatching +Orphanet:166029 Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome oboInOwl:hasDbXref UMLS:C1836315 semapv:UnspecifiedMatching +Orphanet:166029 Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching +Orphanet:166032 Multiple epiphyseal dysplasia-miniepiphyses syndrome oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:166032 Multiple epiphyseal dysplasia-miniepiphyses syndrome oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:166032 Multiple epiphyseal dysplasia-miniepiphyses syndrome oboInOwl:hasDbXref MESH:C563735 semapv:UnspecifiedMatching +Orphanet:166032 Multiple epiphyseal dysplasia-miniepiphyses syndrome oboInOwl:hasDbXref OMIM:609325 semapv:UnspecifiedMatching +Orphanet:166032 Multiple epiphyseal dysplasia-miniepiphyses syndrome oboInOwl:hasDbXref UMLS:C1836307 semapv:UnspecifiedMatching +Orphanet:166032 Multiple epiphyseal dysplasia-miniepiphyses syndrome oboInOwl:hasDbXref icd11:LD24.61 semapv:UnspecifiedMatching Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome oboInOwl:hasDbXref OMIM:250410 semapv:UnspecifiedMatching @@ -10388,8 +10308,6 @@ Orphanet:166063 Pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref MESH:C53671 Orphanet:166063 Pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref OMIM:225753 semapv:UnspecifiedMatching Orphanet:166063 Pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref UMLS:C1856974 semapv:UnspecifiedMatching Orphanet:166063 Pontocerebellar hypoplasia type 4 oboInOwl:hasDbXref icd11:LD20.01 semapv:UnspecifiedMatching -Orphanet:166068 Pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -Orphanet:166068 Pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:166068 Pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref OMIM:610204 semapv:UnspecifiedMatching Orphanet:166068 Pontocerebellar hypoplasia type 5 oboInOwl:hasDbXref UMLS:C1857762 semapv:UnspecifiedMatching Orphanet:166073 Pontocerebellar hypoplasia type 6 oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching @@ -10519,6 +10437,7 @@ Orphanet:166286 Porokeratotic eccrine ostial and dermal duct nevus oboInOwl:hasD Orphanet:166291 Dirofilariasis oboInOwl:hasDbXref ICD10:B74.8 semapv:UnspecifiedMatching Orphanet:166291 Dirofilariasis oboInOwl:hasDbXref ICD10:B74.8 semapv:UnspecifiedMatching Orphanet:166291 Dirofilariasis oboInOwl:hasDbXref MESH:D004184 semapv:UnspecifiedMatching +Orphanet:166291 Dirofilariasis oboInOwl:hasDbXref MedDRA:10080290 semapv:UnspecifiedMatching Orphanet:166291 Dirofilariasis oboInOwl:hasDbXref UMLS:C0012602 semapv:UnspecifiedMatching Orphanet:166291 Dirofilariasis oboInOwl:hasDbXref icd11:1F66.Y semapv:UnspecifiedMatching Orphanet:166295 Benign non-familial infantile seizures oboInOwl:hasDbXref UMLS:C5680425 semapv:UnspecifiedMatching @@ -10582,6 +10501,7 @@ Orphanet:166433 Reading seizures oboInOwl:hasDbXref OMIM:132300 semapv:Unspecifi Orphanet:166433 Reading seizures oboInOwl:hasDbXref UMLS:C0278193 semapv:UnspecifiedMatching Orphanet:166433 Reading seizures oboInOwl:hasDbXref icd11:8A61.40 semapv:UnspecifiedMatching Orphanet:166463 Epilepsy syndrome oboInOwl:hasDbXref MESH:D000073376 semapv:UnspecifiedMatching +Orphanet:166463 Epilepsy syndrome oboInOwl:hasDbXref UMLS:C4505072 semapv:UnspecifiedMatching Orphanet:166466 Neurocutaneous syndrome with epilepsy oboInOwl:hasDbXref UMLS:C5680427 semapv:UnspecifiedMatching Orphanet:166469 Chromosomal anomaly with epilepsy as a major feature oboInOwl:hasDbXref UMLS:C5680428 semapv:UnspecifiedMatching Orphanet:166472 Monogenic disease with epilepsy oboInOwl:hasDbXref UMLS:C5680430 semapv:UnspecifiedMatching @@ -10665,7 +10585,6 @@ Orphanet:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref ICD10:K63 Orphanet:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref ICD10:K63.8 semapv:UnspecifiedMatching Orphanet:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref MESH:C564019 semapv:UnspecifiedMatching Orphanet:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref OMIM:520100 semapv:UnspecifiedMatching -Orphanet:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref OMIM:618662 semapv:UnspecifiedMatching Orphanet:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref UMLS:C1838912 semapv:UnspecifiedMatching Orphanet:1670 Chronic diarrhea with villous atrophy oboInOwl:hasDbXref icd11:DA90.Y semapv:UnspecifiedMatching Orphanet:1671 Split cord malformation type I oboInOwl:hasDbXref ICD10:Q06.2 semapv:UnspecifiedMatching @@ -10679,7 +10598,6 @@ Orphanet:1672 Diencephalic syndrome oboInOwl:hasDbXref ICD10:C72.8 semapv:Unspec Orphanet:1672 Diencephalic syndrome oboInOwl:hasDbXref MedDRA:10087520 semapv:UnspecifiedMatching Orphanet:1672 Diencephalic syndrome oboInOwl:hasDbXref UMLS:C0342436 semapv:UnspecifiedMatching Orphanet:1672 Diencephalic syndrome oboInOwl:hasDbXref icd11:5A61.Y semapv:UnspecifiedMatching -Orphanet:1674 Digitorenocerebral syndrome oboInOwl:hasDbXref OMIM:220500 semapv:UnspecifiedMatching Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching Orphanet:1675 Dihydropyrimidine dehydrogenase deficiency oboInOwl:hasDbXref MESH:D054067 semapv:UnspecifiedMatching @@ -10834,8 +10752,6 @@ Orphanet:168268 tRNA splicing endonuclease subunit 54 oboInOwl:hasDbXref uniprot Orphanet:168272 FAST kinase domains 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000118246 semapv:UnspecifiedMatching Orphanet:168272 FAST kinase domains 2 oboInOwl:hasDbXref OMIM:612322 semapv:UnspecifiedMatching Orphanet:168272 FAST kinase domains 2 oboInOwl:hasDbXref uniprot:Q9NYY8 semapv:UnspecifiedMatching -Orphanet:1683 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:1683 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1683 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome oboInOwl:hasDbXref OMIM:126320 semapv:UnspecifiedMatching Orphanet:1683 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome oboInOwl:hasDbXref UMLS:C1852062 semapv:UnspecifiedMatching Orphanet:168309 GLIS family zinc finger 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000126603 semapv:UnspecifiedMatching @@ -10892,8 +10808,6 @@ Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome oboInOwl Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome oboInOwl:hasDbXref OMIM:183849 semapv:UnspecifiedMatching Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome oboInOwl:hasDbXref UMLS:C1866728 semapv:UnspecifiedMatching Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching -Orphanet:168448 Spondyloepimetaphyseal dysplasia, Bieganski type oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -Orphanet:168448 Spondyloepimetaphyseal dysplasia, Bieganski type oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome oboInOwl:hasDbXref OMIM:601668 semapv:UnspecifiedMatching @@ -10905,21 +10819,6 @@ Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDb Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDbXref OMIM:610442 semapv:UnspecifiedMatching Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDbXref UMLS:C1864872 semapv:UnspecifiedMatching Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching -Orphanet:168486 Congenital neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -Orphanet:168486 Congenital neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -Orphanet:168486 Congenital neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610127 semapv:UnspecifiedMatching -Orphanet:168486 Congenital neuronal ceroid lipofuscinosis oboInOwl:hasDbXref icd11:5C56.1 semapv:UnspecifiedMatching -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:204500 semapv:UnspecifiedMatching -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256730 semapv:UnspecifiedMatching -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256731 semapv:UnspecifiedMatching -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:600143 semapv:UnspecifiedMatching -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:601780 semapv:UnspecifiedMatching -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610127 semapv:UnspecifiedMatching -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610951 semapv:UnspecifiedMatching -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0022340 semapv:UnspecifiedMatching -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref icd11:5C56.1 semapv:UnspecifiedMatching Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.0 semapv:UnspecifiedMatching Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.0 semapv:UnspecifiedMatching Orphanet:1685 Distomatosis oboInOwl:hasDbXref ICD10:B66.1 semapv:UnspecifiedMatching @@ -11013,6 +10912,7 @@ Orphanet:168598 Methionine adenosyltransferase I/III deficiency oboInOwl:hasDbXr Orphanet:168598 Methionine adenosyltransferase I/III deficiency oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:168598 Methionine adenosyltransferase I/III deficiency oboInOwl:hasDbXref OMIM:250850 semapv:UnspecifiedMatching Orphanet:168598 Methionine adenosyltransferase I/III deficiency oboInOwl:hasDbXref UMLS:C0268621 semapv:UnspecifiedMatching +Orphanet:168598 Methionine adenosyltransferase I/III deficiency oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching Orphanet:1686 Cardiac diverticulum oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching Orphanet:1686 Cardiac diverticulum oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching Orphanet:1686 Cardiac diverticulum oboInOwl:hasDbXref UMLS:C0546315 semapv:UnspecifiedMatching @@ -11028,8 +10928,6 @@ Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements oboInOwl:ha Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements oboInOwl:hasDbXref MESH:C565217 semapv:UnspecifiedMatching Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements oboInOwl:hasDbXref OMIM:610227 semapv:UnspecifiedMatching Orphanet:168606 Seborrhea-like dermatitis with psoriasiform elements oboInOwl:hasDbXref UMLS:C1853258 semapv:UnspecifiedMatching -Orphanet:168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching -Orphanet:168609 Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching Orphanet:168612 Congenital deficiency in alpha-fetoprotein oboInOwl:hasDbXref ICD10:R77.2 semapv:UnspecifiedMatching Orphanet:168612 Congenital deficiency in alpha-fetoprotein oboInOwl:hasDbXref ICD10:R77.2 semapv:UnspecifiedMatching Orphanet:168612 Congenital deficiency in alpha-fetoprotein oboInOwl:hasDbXref OMIM:615969 semapv:UnspecifiedMatching @@ -11078,9 +10976,9 @@ Orphanet:168811 Malignant peritoneal mesothelioma oboInOwl:hasDbXref ICD10:C45.1 Orphanet:168811 Malignant peritoneal mesothelioma oboInOwl:hasDbXref MedDRA:10056558 semapv:UnspecifiedMatching Orphanet:168811 Malignant peritoneal mesothelioma oboInOwl:hasDbXref UMLS:C0346109 semapv:UnspecifiedMatching Orphanet:168811 Malignant peritoneal mesothelioma oboInOwl:hasDbXref icd11:2C51.2 semapv:UnspecifiedMatching -Orphanet:168816 Peritoneal cystic mesothelioma oboInOwl:hasDbXref ICD10:C45.1 semapv:UnspecifiedMatching -Orphanet:168816 Peritoneal cystic mesothelioma oboInOwl:hasDbXref ICD10:C45.1 semapv:UnspecifiedMatching -Orphanet:168816 Peritoneal cystic mesothelioma oboInOwl:hasDbXref UMLS:C1334818 semapv:UnspecifiedMatching +Orphanet:168816 Peritoneal inclusion cyst oboInOwl:hasDbXref ICD10:C45.1 semapv:UnspecifiedMatching +Orphanet:168816 Peritoneal inclusion cyst oboInOwl:hasDbXref ICD10:C45.1 semapv:UnspecifiedMatching +Orphanet:168816 Peritoneal inclusion cyst oboInOwl:hasDbXref UMLS:C1334818 semapv:UnspecifiedMatching Orphanet:168829 Primary peritoneal carcinoma oboInOwl:hasDbXref ICD10:C48.2 semapv:UnspecifiedMatching Orphanet:168829 Primary peritoneal carcinoma oboInOwl:hasDbXref ICD10:C48.2 semapv:UnspecifiedMatching Orphanet:168829 Primary peritoneal carcinoma oboInOwl:hasDbXref UMLS:C0334361 semapv:UnspecifiedMatching @@ -11096,7 +10994,7 @@ Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement o Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement oboInOwl:hasDbXref icd11:2A50 semapv:UnspecifiedMatching Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching -Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement oboInOwl:hasDbXref UMLS:C5680456 semapv:UnspecifiedMatching +Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement oboInOwl:hasDbXref UMLS:C3472621 semapv:UnspecifiedMatching Orphanet:168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement oboInOwl:hasDbXref icd11:2A51 semapv:UnspecifiedMatching Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching Orphanet:168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching @@ -11119,8 +11017,6 @@ Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref MESH:D058617 semapv:Unspec Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref MedDRA:10073957 semapv:UnspecifiedMatching Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref UMLS:C0545080 semapv:UnspecifiedMatching Orphanet:168966 Composite lymphoma oboInOwl:hasDbXref icd11:XH3BP6 semapv:UnspecifiedMatching -Orphanet:168972 Kahrizi syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -Orphanet:168972 Kahrizi syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:168972 Kahrizi syndrome oboInOwl:hasDbXref OMIM:612713 semapv:UnspecifiedMatching Orphanet:168972 Kahrizi syndrome oboInOwl:hasDbXref UMLS:C2675185 semapv:UnspecifiedMatching Orphanet:168984 CLAPO syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching @@ -11164,7 +11060,6 @@ Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOw Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref MESH:C536781 semapv:UnspecifiedMatching Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref OMIM:601705 semapv:UnspecifiedMatching -Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref OMIM:618806 semapv:UnspecifiedMatching Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref UMLS:C1866426 semapv:UnspecifiedMatching Orphanet:169095 Severe combined immunodeficiency due to FOXN1 deficiency oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching Orphanet:169100 Immunodeficiency due to CD25 deficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching @@ -11186,12 +11081,12 @@ Orphanet:169139 Transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref IC Orphanet:169139 Transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref MedDRA:10044388 semapv:UnspecifiedMatching Orphanet:169139 Transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref UMLS:C0272238 semapv:UnspecifiedMatching Orphanet:169139 Transient hypogammaglobulinemia of infancy oboInOwl:hasDbXref icd11:4A01.03 semapv:UnspecifiedMatching -Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching -Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching -Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref OMIM:245480 semapv:UnspecifiedMatching -Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref OMIM:617475 semapv:UnspecifiedMatching -Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref UMLS:C5546032 semapv:UnspecifiedMatching -Orphanet:169142 Recurrent infection due to specific granule deficiency oboInOwl:hasDbXref icd11:4A00.0Y semapv:UnspecifiedMatching +Orphanet:169142 Recurrent infections due to specific granule deficiency oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching +Orphanet:169142 Recurrent infections due to specific granule deficiency oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching +Orphanet:169142 Recurrent infections due to specific granule deficiency oboInOwl:hasDbXref OMIM:245480 semapv:UnspecifiedMatching +Orphanet:169142 Recurrent infections due to specific granule deficiency oboInOwl:hasDbXref OMIM:617475 semapv:UnspecifiedMatching +Orphanet:169142 Recurrent infections due to specific granule deficiency oboInOwl:hasDbXref UMLS:C5546032 semapv:UnspecifiedMatching +Orphanet:169142 Recurrent infections due to specific granule deficiency oboInOwl:hasDbXref icd11:4A00.0Y semapv:UnspecifiedMatching Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency oboInOwl:hasDbXref OMIM:216950 semapv:UnspecifiedMatching @@ -11246,6 +11141,7 @@ Orphanet:169189 Autosomal dominant centronuclear myopathy oboInOwl:hasDbXref icd Orphanet:1692 Mosaic trisomy 1 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:1692 Mosaic trisomy 1 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:1692 Mosaic trisomy 1 oboInOwl:hasDbXref UMLS:C5394675 semapv:UnspecifiedMatching +Orphanet:1692 Mosaic trisomy 1 oboInOwl:hasDbXref icd11:LD40.Y semapv:UnspecifiedMatching Orphanet:169346 DNA repair defect other than combined T-cell and B-cell immunodeficiencies oboInOwl:hasDbXref UMLS:C5680459 semapv:UnspecifiedMatching Orphanet:169346 DNA repair defect other than combined T-cell and B-cell immunodeficiencies oboInOwl:hasDbXref icd11:4A01.31 semapv:UnspecifiedMatching Orphanet:169349 Immuno-osseous dysplasia oboInOwl:hasDbXref UMLS:C0432218 semapv:UnspecifiedMatching @@ -11304,6 +11200,7 @@ Orphanet:169799 Mild hemophilia B oboInOwl:hasDbXref icd11:3B11.0 semapv:Unspeci Orphanet:1698 Mosaic trisomy 12 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:1698 Mosaic trisomy 12 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:1698 Mosaic trisomy 12 oboInOwl:hasDbXref UMLS:C4706889 semapv:UnspecifiedMatching +Orphanet:1698 Mosaic trisomy 12 oboInOwl:hasDbXref icd11:LD40.Y semapv:UnspecifiedMatching Orphanet:169802 Severe hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching Orphanet:169802 Severe hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching Orphanet:169802 Severe hemophilia A oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMatching @@ -11312,6 +11209,7 @@ Orphanet:169802 Severe hemophilia A oboInOwl:hasDbXref icd11:3B10.0 semapv:Unspe Orphanet:169805 Moderate hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching Orphanet:169805 Moderate hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching Orphanet:169805 Moderate hemophilia A oboInOwl:hasDbXref OMIM:306700 semapv:UnspecifiedMatching +Orphanet:169805 Moderate hemophilia A oboInOwl:hasDbXref UMLS:C0272323 semapv:UnspecifiedMatching Orphanet:169805 Moderate hemophilia A oboInOwl:hasDbXref icd11:3B10.0 semapv:UnspecifiedMatching Orphanet:169808 Mild hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching Orphanet:169808 Mild hemophilia A oboInOwl:hasDbXref ICD10:D66 semapv:UnspecifiedMatching @@ -11377,6 +11275,7 @@ Orphanet:1703 Mosaic trisomy 14 oboInOwl:hasDbXref ICD10:Q92.1 semapv:Unspecifie Orphanet:1703 Mosaic trisomy 14 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:1703 Mosaic trisomy 14 oboInOwl:hasDbXref MESH:C535489 semapv:UnspecifiedMatching Orphanet:1703 Mosaic trisomy 14 oboInOwl:hasDbXref UMLS:C2930917 semapv:UnspecifiedMatching +Orphanet:1703 Mosaic trisomy 14 oboInOwl:hasDbXref icd11:LD40.Y semapv:UnspecifiedMatching Orphanet:1705 Distal duplication 14q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:1705 Distal duplication 14q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:1705 Distal duplication 14q oboInOwl:hasDbXref MESH:C538034 semapv:UnspecifiedMatching @@ -11385,6 +11284,7 @@ Orphanet:1706 Mosaic trisomy 15 oboInOwl:hasDbXref ICD10:Q92.1 semapv:Unspecifie Orphanet:1706 Mosaic trisomy 15 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:1706 Mosaic trisomy 15 oboInOwl:hasDbXref MESH:C538037 semapv:UnspecifiedMatching Orphanet:1706 Mosaic trisomy 15 oboInOwl:hasDbXref UMLS:C2931707 semapv:UnspecifiedMatching +Orphanet:1706 Mosaic trisomy 15 oboInOwl:hasDbXref icd11:LD40.Y semapv:UnspecifiedMatching Orphanet:1707 Distal duplication 15q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:1707 Distal duplication 15q oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:1707 Distal duplication 15q oboInOwl:hasDbXref MESH:C538036 semapv:UnspecifiedMatching @@ -11393,8 +11293,10 @@ Orphanet:1707 Distal duplication 15q oboInOwl:hasDbXref icd11:LD2C semapv:Unspec Orphanet:1708 Mosaic trisomy 16 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:1708 Mosaic trisomy 16 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:1708 Mosaic trisomy 16 oboInOwl:hasDbXref UMLS:C4707009 semapv:UnspecifiedMatching +Orphanet:1708 Mosaic trisomy 16 oboInOwl:hasDbXref icd11:LD40.Y semapv:UnspecifiedMatching Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref ICD10:K83.0 semapv:UnspecifiedMatching +Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref MESH:D015209 semapv:UnspecifiedMatching Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref MedDRA:10036732 semapv:UnspecifiedMatching Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref OMIM:602114 semapv:UnspecifiedMatching Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref OMIM:613806 semapv:UnspecifiedMatching @@ -11403,9 +11305,6 @@ Orphanet:171 Primary sclerosing cholangitis oboInOwl:hasDbXref icd11:DB96.2 sema Orphanet:171034 glucose-6-phosphatase catalytic subunit 3 oboInOwl:hasDbXref ENSEMBL:ENSG00000141349 semapv:UnspecifiedMatching Orphanet:171034 glucose-6-phosphatase catalytic subunit 3 oboInOwl:hasDbXref OMIM:611045 semapv:UnspecifiedMatching Orphanet:171034 glucose-6-phosphatase catalytic subunit 3 oboInOwl:hasDbXref uniprot:Q9BUM1 semapv:UnspecifiedMatching -Orphanet:171038 DDB1 and CUL4 associated factor 17 oboInOwl:hasDbXref ENSEMBL:ENSG00000115827 semapv:UnspecifiedMatching -Orphanet:171038 DDB1 and CUL4 associated factor 17 oboInOwl:hasDbXref OMIM:612515 semapv:UnspecifiedMatching -Orphanet:171038 DDB1 and CUL4 associated factor 17 oboInOwl:hasDbXref uniprot:Q5H9S7 semapv:UnspecifiedMatching Orphanet:171045 solute carrier family 2 member 9 oboInOwl:hasDbXref ENSEMBL:ENSG00000109667 semapv:UnspecifiedMatching Orphanet:171045 solute carrier family 2 member 9 oboInOwl:hasDbXref OMIM:606142 semapv:UnspecifiedMatching Orphanet:171045 solute carrier family 2 member 9 oboInOwl:hasDbXref uniprot:Q9NRM0 semapv:UnspecifiedMatching @@ -11442,6 +11341,7 @@ Orphanet:171089 myosin VB oboInOwl:hasDbXref uniprot:Q9ULV0 semapv:UnspecifiedMa Orphanet:1711 Mosaic trisomy 17 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:1711 Mosaic trisomy 17 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:1711 Mosaic trisomy 17 oboInOwl:hasDbXref UMLS:C1096168 semapv:UnspecifiedMatching +Orphanet:1711 Mosaic trisomy 17 oboInOwl:hasDbXref icd11:LD40.Y semapv:UnspecifiedMatching Orphanet:171220 Rectal duplication oboInOwl:hasDbXref ICD10:Q43.4 semapv:UnspecifiedMatching Orphanet:171220 Rectal duplication oboInOwl:hasDbXref ICD10:Q43.4 semapv:UnspecifiedMatching Orphanet:171220 Rectal duplication oboInOwl:hasDbXref UMLS:C4511483 semapv:UnspecifiedMatching @@ -11609,8 +11509,6 @@ Orphanet:171709 Male infertility due to globozoospermia oboInOwl:hasDbXref ICD10 Orphanet:171709 Male infertility due to globozoospermia oboInOwl:hasDbXref OMIM:102530 semapv:UnspecifiedMatching Orphanet:171709 Male infertility due to globozoospermia oboInOwl:hasDbXref OMIM:613958 semapv:UnspecifiedMatching Orphanet:171709 Male infertility due to globozoospermia oboInOwl:hasDbXref UMLS:C5679591 semapv:UnspecifiedMatching -Orphanet:171714 Amish infantile epilepsy syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -Orphanet:171714 Amish infantile epilepsy syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:171714 Amish infantile epilepsy syndrome oboInOwl:hasDbXref UMLS:C1836824 semapv:UnspecifiedMatching Orphanet:171719 Cutis laxa-Marfanoid syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:171719 Cutis laxa-Marfanoid syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -11621,6 +11519,7 @@ Orphanet:171719 Cutis laxa-Marfanoid syndrome oboInOwl:hasDbXref icd11:LD28.2 se Orphanet:171723 White sponge nevus oboInOwl:hasDbXref ICD10:Q38.6 semapv:UnspecifiedMatching Orphanet:171723 White sponge nevus oboInOwl:hasDbXref ICD10:Q38.6 semapv:UnspecifiedMatching Orphanet:171723 White sponge nevus oboInOwl:hasDbXref MESH:D053529 semapv:UnspecifiedMatching +Orphanet:171723 White sponge nevus oboInOwl:hasDbXref MedDRA:10072666 semapv:UnspecifiedMatching Orphanet:171723 White sponge nevus oboInOwl:hasDbXref OMIM:193900 semapv:UnspecifiedMatching Orphanet:171723 White sponge nevus oboInOwl:hasDbXref OMIM:615785 semapv:UnspecifiedMatching Orphanet:171723 White sponge nevus oboInOwl:hasDbXref UMLS:C1721005 semapv:UnspecifiedMatching @@ -11629,9 +11528,6 @@ Orphanet:171829 6q16 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semap Orphanet:171829 6q16 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:171829 6q16 microdeletion syndrome oboInOwl:hasDbXref UMLS:C5438727 semapv:UnspecifiedMatching Orphanet:171829 6q16 microdeletion syndrome oboInOwl:hasDbXref icd11:LD29 semapv:UnspecifiedMatching -Orphanet:171836 Amelogenesis imperfecta-gingival hyperplasia syndrome oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching -Orphanet:171836 Amelogenesis imperfecta-gingival hyperplasia syndrome oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching -Orphanet:171836 Amelogenesis imperfecta-gingival hyperplasia syndrome oboInOwl:hasDbXref OMIM:204690 semapv:UnspecifiedMatching Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome oboInOwl:hasDbXref UMLS:C3267187 semapv:UnspecifiedMatching @@ -11717,10 +11613,12 @@ Orphanet:172 Progressive familial intrahepatic cholestasis oboInOwl:hasDbXref ic Orphanet:1723 Mosaic trisomy 2 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:1723 Mosaic trisomy 2 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:1723 Mosaic trisomy 2 oboInOwl:hasDbXref UMLS:C4707010 semapv:UnspecifiedMatching +Orphanet:1723 Mosaic trisomy 2 oboInOwl:hasDbXref icd11:LD40.Y semapv:UnspecifiedMatching Orphanet:1724 Mosaic trisomy 20 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:1724 Mosaic trisomy 20 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:1724 Mosaic trisomy 20 oboInOwl:hasDbXref MESH:C535372 semapv:UnspecifiedMatching Orphanet:1724 Mosaic trisomy 20 oboInOwl:hasDbXref UMLS:C0265479 semapv:UnspecifiedMatching +Orphanet:1724 Mosaic trisomy 20 oboInOwl:hasDbXref icd11:LD40.Y semapv:UnspecifiedMatching Orphanet:1727 22q11.2 duplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:1727 22q11.2 duplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:1727 22q11.2 duplication syndrome oboInOwl:hasDbXref MESH:C567224 semapv:UnspecifiedMatching @@ -11830,6 +11728,7 @@ Orphanet:1747 Mosaic trisomy 7 oboInOwl:hasDbXref ICD10:Q92.1 semapv:Unspecified Orphanet:1747 Mosaic trisomy 7 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:1747 Mosaic trisomy 7 oboInOwl:hasDbXref MESH:C537822 semapv:UnspecifiedMatching Orphanet:1747 Mosaic trisomy 7 oboInOwl:hasDbXref UMLS:C2931631 semapv:UnspecifiedMatching +Orphanet:1747 Mosaic trisomy 7 oboInOwl:hasDbXref icd11:LD40.Y semapv:UnspecifiedMatching Orphanet:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:175 Cartilage-hair hypoplasia oboInOwl:hasDbXref MESH:C535916 semapv:UnspecifiedMatching @@ -11862,6 +11761,7 @@ Orphanet:1762 Proximal Xq28 duplication syndrome oboInOwl:hasDbXref MESH:C537723 Orphanet:1762 Proximal Xq28 duplication syndrome oboInOwl:hasDbXref OMIM:300260 semapv:UnspecifiedMatching Orphanet:1762 Proximal Xq28 duplication syndrome oboInOwl:hasDbXref OMIM:300815 semapv:UnspecifiedMatching Orphanet:1762 Proximal Xq28 duplication syndrome oboInOwl:hasDbXref UMLS:C1846058 semapv:UnspecifiedMatching +Orphanet:1762 Proximal Xq28 duplication syndrome oboInOwl:hasDbXref icd11:LD51 semapv:UnspecifiedMatching Orphanet:176228 isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta oboInOwl:hasDbXref ENSEMBL:ENSG00000101365 semapv:UnspecifiedMatching Orphanet:176228 isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta oboInOwl:hasDbXref OMIM:604526 semapv:UnspecifiedMatching Orphanet:176228 isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta oboInOwl:hasDbXref uniprot:O43837 semapv:UnspecifiedMatching @@ -11872,10 +11772,6 @@ Orphanet:1764 Familial dysautonomia oboInOwl:hasDbXref MedDRA:10039179 semapv:Un Orphanet:1764 Familial dysautonomia oboInOwl:hasDbXref OMIM:223900 semapv:UnspecifiedMatching Orphanet:1764 Familial dysautonomia oboInOwl:hasDbXref UMLS:C0013364 semapv:UnspecifiedMatching Orphanet:1764 Familial dysautonomia oboInOwl:hasDbXref icd11:8C21.1 semapv:UnspecifiedMatching -Orphanet:1765 Dyschondrosteosis-nephritis syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -Orphanet:1765 Dyschondrosteosis-nephritis syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -Orphanet:1765 Dyschondrosteosis-nephritis syndrome oboInOwl:hasDbXref OMIM:127350 semapv:UnspecifiedMatching -Orphanet:1765 Dyschondrosteosis-nephritis syndrome oboInOwl:hasDbXref UMLS:C4302549 semapv:UnspecifiedMatching Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:1766 Dysequilibrium syndrome oboInOwl:hasDbXref MESH:C535731 semapv:UnspecifiedMatching @@ -11983,14 +11879,14 @@ Orphanet:1780 Thakker-Donnai syndrome oboInOwl:hasDbXref MESH:C536503 semapv:Uns Orphanet:1780 Thakker-Donnai syndrome oboInOwl:hasDbXref OMIM:227255 semapv:UnspecifiedMatching Orphanet:1780 Thakker-Donnai syndrome oboInOwl:hasDbXref UMLS:C2931219 semapv:UnspecifiedMatching Orphanet:178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations oboInOwl:hasDbXref UMLS:C5680506 semapv:UnspecifiedMatching -Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching -Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching -Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref MESH:D020790 semapv:UnspecifiedMatching -Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref MedDRA:10068587 semapv:UnspecifiedMatching -Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref OMIM:125700 semapv:UnspecifiedMatching -Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref OMIM:304900 semapv:UnspecifiedMatching -Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref UMLS:C0687720 semapv:UnspecifiedMatching -Orphanet:178029 Central diabetes insipidus oboInOwl:hasDbXref icd11:5A61.5 semapv:UnspecifiedMatching +Orphanet:178029 Arginine vasopressin deficiency oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching +Orphanet:178029 Arginine vasopressin deficiency oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching +Orphanet:178029 Arginine vasopressin deficiency oboInOwl:hasDbXref MESH:D020790 semapv:UnspecifiedMatching +Orphanet:178029 Arginine vasopressin deficiency oboInOwl:hasDbXref MedDRA:10068587 semapv:UnspecifiedMatching +Orphanet:178029 Arginine vasopressin deficiency oboInOwl:hasDbXref OMIM:125700 semapv:UnspecifiedMatching +Orphanet:178029 Arginine vasopressin deficiency oboInOwl:hasDbXref OMIM:304900 semapv:UnspecifiedMatching +Orphanet:178029 Arginine vasopressin deficiency oboInOwl:hasDbXref UMLS:C0687720 semapv:UnspecifiedMatching +Orphanet:178029 Arginine vasopressin deficiency oboInOwl:hasDbXref icd11:5A61.5 semapv:UnspecifiedMatching Orphanet:178040 Rare peripheral precocious puberty oboInOwl:hasDbXref UMLS:C5680513 semapv:UnspecifiedMatching Orphanet:178040 Rare peripheral precocious puberty oboInOwl:hasDbXref icd11:5A92 semapv:UnspecifiedMatching Orphanet:178045 Transient congenital hypothyroidism oboInOwl:hasDbXref icd11:5A00.03 semapv:UnspecifiedMatching @@ -12137,7 +12033,6 @@ Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOw Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:156200 semapv:UnspecifiedMatching Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:612580 semapv:UnspecifiedMatching Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:612581 semapv:UnspecifiedMatching -Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:612621 semapv:UnspecifiedMatching Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:613970 semapv:UnspecifiedMatching Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614113 semapv:UnspecifiedMatching Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:614254 semapv:UnspecifiedMatching @@ -12148,7 +12043,6 @@ Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOw Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:615828 semapv:UnspecifiedMatching Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616083 semapv:UnspecifiedMatching Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616393 semapv:UnspecifiedMatching -Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616521 semapv:UnspecifiedMatching Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616579 semapv:UnspecifiedMatching Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616977 semapv:UnspecifiedMatching Orphanet:178469 Autosomal dominant non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:617796 semapv:UnspecifiedMatching @@ -12175,18 +12069,10 @@ Orphanet:178481 Intestinal botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:Unspec Orphanet:178481 Intestinal botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching Orphanet:178481 Intestinal botulism oboInOwl:hasDbXref UMLS:C1443901 semapv:UnspecifiedMatching Orphanet:178481 Intestinal botulism oboInOwl:hasDbXref icd11:1A11.1 semapv:UnspecifiedMatching -Orphanet:178481 Intestinal botulism oboInOwl:hasDbXref icd11:null semapv:UnspecifiedMatching Orphanet:178487 Adult intestinal botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching Orphanet:178487 Adult intestinal botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:UnspecifiedMatching Orphanet:178487 Adult intestinal botulism oboInOwl:hasDbXref UMLS:C4289991 semapv:UnspecifiedMatching Orphanet:178487 Adult intestinal botulism oboInOwl:hasDbXref icd11:1A11.1 semapv:UnspecifiedMatching -Orphanet:178493 Myopic macular degeneration oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching -Orphanet:178493 Myopic macular degeneration oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching -Orphanet:178493 Myopic macular degeneration oboInOwl:hasDbXref UMLS:C0730271 semapv:UnspecifiedMatching -Orphanet:178493 Myopic macular degeneration oboInOwl:hasDbXref icd11:9B76 semapv:UnspecifiedMatching -Orphanet:178503 Dursun syndrome oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -Orphanet:178503 Dursun syndrome oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -Orphanet:178503 Dursun syndrome oboInOwl:hasDbXref OMIM:612541 semapv:UnspecifiedMatching Orphanet:178503 Dursun syndrome oboInOwl:hasDbXref UMLS:C2751630 semapv:UnspecifiedMatching Orphanet:178506 Brain calcification, Rajab type oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching Orphanet:178506 Brain calcification, Rajab type oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching @@ -12343,12 +12229,12 @@ Orphanet:1797 Autosomal dominant spondylocostal dysostosis oboInOwl:hasDbXref IC Orphanet:1797 Autosomal dominant spondylocostal dysostosis oboInOwl:hasDbXref OMIM:122600 semapv:UnspecifiedMatching Orphanet:1797 Autosomal dominant spondylocostal dysostosis oboInOwl:hasDbXref UMLS:C4274761 semapv:UnspecifiedMatching Orphanet:1797 Autosomal dominant spondylocostal dysostosis oboInOwl:hasDbXref icd11:LD24.H semapv:UnspecifiedMatching -Orphanet:1798 Dysostosis, Stanescu type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -Orphanet:1798 Dysostosis, Stanescu type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -Orphanet:1798 Dysostosis, Stanescu type oboInOwl:hasDbXref MESH:C562974 semapv:UnspecifiedMatching -Orphanet:1798 Dysostosis, Stanescu type oboInOwl:hasDbXref OMIM:122900 semapv:UnspecifiedMatching -Orphanet:1798 Dysostosis, Stanescu type oboInOwl:hasDbXref UMLS:C0432263 semapv:UnspecifiedMatching -Orphanet:1798 Dysostosis, Stanescu type oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:1798 Craniofacial dysostosis-diaphyseal hyperplasia syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1798 Craniofacial dysostosis-diaphyseal hyperplasia syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:1798 Craniofacial dysostosis-diaphyseal hyperplasia syndrome oboInOwl:hasDbXref MESH:C562974 semapv:UnspecifiedMatching +Orphanet:1798 Craniofacial dysostosis-diaphyseal hyperplasia syndrome oboInOwl:hasDbXref OMIM:122900 semapv:UnspecifiedMatching +Orphanet:1798 Craniofacial dysostosis-diaphyseal hyperplasia syndrome oboInOwl:hasDbXref UMLS:C0432263 semapv:UnspecifiedMatching +Orphanet:1798 Craniofacial dysostosis-diaphyseal hyperplasia syndrome oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching Orphanet:1799 Familial developmental dysphasia oboInOwl:hasDbXref ICD10:F80.1 semapv:UnspecifiedMatching Orphanet:1799 Familial developmental dysphasia oboInOwl:hasDbXref ICD10:F80.1 semapv:UnspecifiedMatching Orphanet:1799 Familial developmental dysphasia oboInOwl:hasDbXref MESH:C563997 semapv:UnspecifiedMatching @@ -12407,8 +12293,6 @@ Orphanet:180114 Unicervical bicornuate uterus oboInOwl:hasDbXref ICD10:Q51.3 sem Orphanet:180114 Unicervical bicornuate uterus oboInOwl:hasDbXref ICD10:Q51.3 semapv:UnspecifiedMatching Orphanet:180114 Unicervical bicornuate uterus oboInOwl:hasDbXref UMLS:C5680490 semapv:UnspecifiedMatching Orphanet:180114 Unicervical bicornuate uterus oboInOwl:hasDbXref icd11:LB44.3 semapv:UnspecifiedMatching -Orphanet:180118 NON RARE IN EUROPE: Cordiform uterus oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching -Orphanet:180118 NON RARE IN EUROPE: Cordiform uterus oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching Orphanet:180122 Septate uterus oboInOwl:hasDbXref MESH:D000093665 semapv:UnspecifiedMatching Orphanet:180122 Septate uterus oboInOwl:hasDbXref MedDRA:10062606 semapv:UnspecifiedMatching Orphanet:180122 Septate uterus oboInOwl:hasDbXref UMLS:C0152240 semapv:UnspecifiedMatching @@ -12518,6 +12402,7 @@ Orphanet:180242 Malignant tumor of fallopian tubes oboInOwl:hasDbXref icd11:2C74 Orphanet:180247 Vaginal carcinoma oboInOwl:hasDbXref ICD10:C52 semapv:UnspecifiedMatching Orphanet:180247 Vaginal carcinoma oboInOwl:hasDbXref ICD10:C52 semapv:UnspecifiedMatching Orphanet:180247 Vaginal carcinoma oboInOwl:hasDbXref UMLS:C0262659 semapv:UnspecifiedMatching +Orphanet:180247 Vaginal carcinoma oboInOwl:hasDbXref icd11:2C71 semapv:UnspecifiedMatching Orphanet:180250 Rare breast tumor oboInOwl:hasDbXref UMLS:C5680484 semapv:UnspecifiedMatching Orphanet:180253 Rare benign breast tumor oboInOwl:hasDbXref ICD10:D24 semapv:UnspecifiedMatching Orphanet:180253 Rare benign breast tumor oboInOwl:hasDbXref ICD10:D24 semapv:UnspecifiedMatching @@ -12542,8 +12427,6 @@ Orphanet:180275 Paget disease of the nipple oboInOwl:hasDbXref MESH:D010144 sema Orphanet:180275 Paget disease of the nipple oboInOwl:hasDbXref MedDRA:10033367 semapv:UnspecifiedMatching Orphanet:180275 Paget disease of the nipple oboInOwl:hasDbXref UMLS:C1704323 semapv:UnspecifiedMatching Orphanet:180275 Paget disease of the nipple oboInOwl:hasDbXref icd11:2E65.5 semapv:UnspecifiedMatching -Orphanet:180284 NON RARE IN EUROPE: Benign ductal tumor of breast oboInOwl:hasDbXref ICD10:D24 semapv:UnspecifiedMatching -Orphanet:180284 NON RARE IN EUROPE: Benign ductal tumor of breast oboInOwl:hasDbXref ICD10:D24 semapv:UnspecifiedMatching Orphanet:1803 Thoracomelic dysplasia oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching Orphanet:1803 Thoracomelic dysplasia oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching Orphanet:1803 Thoracomelic dysplasia oboInOwl:hasDbXref MESH:C564773 semapv:UnspecifiedMatching @@ -12796,13 +12679,13 @@ Orphanet:1830 Schimke immuno-osseous dysplasia oboInOwl:hasDbXref icd11:4A01.32 Orphanet:1831 De Hauwere syndrome oboInOwl:hasDbXref MESH:C535537 semapv:UnspecifiedMatching Orphanet:1831 De Hauwere syndrome oboInOwl:hasDbXref OMIM:109120 semapv:UnspecifiedMatching Orphanet:1831 De Hauwere syndrome oboInOwl:hasDbXref UMLS:C2930925 semapv:UnspecifiedMatching -Orphanet:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching -Orphanet:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching -Orphanet:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref MESH:C535282 semapv:UnspecifiedMatching -Orphanet:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref MedDRA:10087908 semapv:UnspecifiedMatching -Orphanet:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref OMIM:259775 semapv:UnspecifiedMatching -Orphanet:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref UMLS:C1850106 semapv:UnspecifiedMatching -Orphanet:1832 Lethal osteosclerotic bone dysplasia oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching +Orphanet:1832 Osteosclerotic bone dysplasia oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:1832 Osteosclerotic bone dysplasia oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching +Orphanet:1832 Osteosclerotic bone dysplasia oboInOwl:hasDbXref MESH:C535282 semapv:UnspecifiedMatching +Orphanet:1832 Osteosclerotic bone dysplasia oboInOwl:hasDbXref MedDRA:10087908 semapv:UnspecifiedMatching +Orphanet:1832 Osteosclerotic bone dysplasia oboInOwl:hasDbXref OMIM:259775 semapv:UnspecifiedMatching +Orphanet:1832 Osteosclerotic bone dysplasia oboInOwl:hasDbXref UMLS:C1850106 semapv:UnspecifiedMatching +Orphanet:1832 Osteosclerotic bone dysplasia oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching Orphanet:1834 Axial mesodermal dysplasia spectrum oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1834 Axial mesodermal dysplasia spectrum oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1834 Axial mesodermal dysplasia spectrum oboInOwl:hasDbXref MESH:C537790 semapv:UnspecifiedMatching @@ -12835,6 +12718,7 @@ Orphanet:183506 Genetic central nervous system malformation oboInOwl:hasDbXref U Orphanet:183509 Rare genetic headache oboInOwl:hasDbXref UMLS:C5680565 semapv:UnspecifiedMatching Orphanet:183512 Rare genetic epilepsy oboInOwl:hasDbXref UMLS:C5680564 semapv:UnspecifiedMatching Orphanet:183515 Rare genetic medullar disease oboInOwl:hasDbXref UMLS:C5681838 semapv:UnspecifiedMatching +Orphanet:183518 Hereditary ataxia oboInOwl:hasDbXref UMLS:C5680563 semapv:UnspecifiedMatching Orphanet:183521 Rare genetic movement disorder oboInOwl:hasDbXref UMLS:C5680562 semapv:UnspecifiedMatching Orphanet:183524 Rare genetic bone disease oboInOwl:hasDbXref UMLS:C5680561 semapv:UnspecifiedMatching Orphanet:183527 Genetic bone tumor oboInOwl:hasDbXref UMLS:C5680560 semapv:UnspecifiedMatching @@ -12907,21 +12791,21 @@ Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency oboInOwl:hasDbX Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency oboInOwl:hasDbXref OMIM:617050 semapv:UnspecifiedMatching Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency oboInOwl:hasDbXref UMLS:C1842362 semapv:UnspecifiedMatching Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching -Orphanet:183681 Functional neutrophil defect oboInOwl:hasDbXref UMLS:C5681846 semapv:UnspecifiedMatching -Orphanet:183681 Functional neutrophil defect oboInOwl:hasDbXref icd11:4A00.0 semapv:UnspecifiedMatching -Orphanet:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching -Orphanet:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching -Orphanet:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref MESH:C536935 semapv:UnspecifiedMatching -Orphanet:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref OMIM:191420 semapv:UnspecifiedMatching -Orphanet:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref UMLS:C1860615 semapv:UnspecifiedMatching -Orphanet:1837 Ulna metaphyseal dysplasia syndrome oboInOwl:hasDbXref icd11:LD24.7 semapv:UnspecifiedMatching -Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching -Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching -Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref MESH:C564275 semapv:UnspecifiedMatching -Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref OMIM:608203 semapv:UnspecifiedMatching -Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref OMIM:618987 semapv:UnspecifiedMatching -Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref UMLS:C1842398 semapv:UnspecifiedMatching -Orphanet:183707 Neutrophil immunodeficiency syndrome oboInOwl:hasDbXref icd11:4A00.00 semapv:UnspecifiedMatching +Orphanet:183681 Congenital functional phagocyte defect oboInOwl:hasDbXref UMLS:C5681846 semapv:UnspecifiedMatching +Orphanet:183681 Congenital functional phagocyte defect oboInOwl:hasDbXref icd11:4A00.0 semapv:UnspecifiedMatching +Orphanet:1837 Metaphyseal chondrodysplasia, Rosenberg type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:1837 Metaphyseal chondrodysplasia, Rosenberg type oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatching +Orphanet:1837 Metaphyseal chondrodysplasia, Rosenberg type oboInOwl:hasDbXref MESH:C536935 semapv:UnspecifiedMatching +Orphanet:1837 Metaphyseal chondrodysplasia, Rosenberg type oboInOwl:hasDbXref OMIM:191420 semapv:UnspecifiedMatching +Orphanet:1837 Metaphyseal chondrodysplasia, Rosenberg type oboInOwl:hasDbXref UMLS:C1860615 semapv:UnspecifiedMatching +Orphanet:1837 Metaphyseal chondrodysplasia, Rosenberg type oboInOwl:hasDbXref icd11:LD24.7 semapv:UnspecifiedMatching +Orphanet:183707 Infantile LAD-like disease due to RAC2 deficiency oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching +Orphanet:183707 Infantile LAD-like disease due to RAC2 deficiency oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching +Orphanet:183707 Infantile LAD-like disease due to RAC2 deficiency oboInOwl:hasDbXref MESH:C564275 semapv:UnspecifiedMatching +Orphanet:183707 Infantile LAD-like disease due to RAC2 deficiency oboInOwl:hasDbXref OMIM:608203 semapv:UnspecifiedMatching +Orphanet:183707 Infantile LAD-like disease due to RAC2 deficiency oboInOwl:hasDbXref OMIM:618987 semapv:UnspecifiedMatching +Orphanet:183707 Infantile LAD-like disease due to RAC2 deficiency oboInOwl:hasDbXref UMLS:C1842398 semapv:UnspecifiedMatching +Orphanet:183707 Infantile LAD-like disease due to RAC2 deficiency oboInOwl:hasDbXref icd11:4A00.00 semapv:UnspecifiedMatching Orphanet:183710 Genetic susceptibility to infections due to particular pathogens oboInOwl:hasDbXref UMLS:C5680530 semapv:UnspecifiedMatching Orphanet:183710 Genetic susceptibility to infections due to particular pathogens oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching @@ -13192,7 +13076,8 @@ Orphanet:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.8 semapv Orphanet:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref OMIM:129500 semapv:UnspecifiedMatching Orphanet:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref UMLS:C0162361 semapv:UnspecifiedMatching -Orphanet:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref icd11:LD27.02 semapv:UnspecifiedMatching +Orphanet:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref icd11:LD27.03 semapv:UnspecifiedMatching +Orphanet:189 Hidrotic ectodermal dysplasia oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:1891 Intellectual disability-spasticity-ectrodactyly syndrome oboInOwl:hasDbXref MESH:C537446 semapv:UnspecifiedMatching @@ -13448,6 +13333,7 @@ Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:6 Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:613721 semapv:UnspecifiedMatching Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:616341 semapv:UnspecifiedMatching Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:617276 semapv:UnspecifiedMatching +Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:617281 semapv:UnspecifiedMatching Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:617350 semapv:UnspecifiedMatching Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:617389 semapv:UnspecifiedMatching Orphanet:1934 Early infantile epileptic encephalopathy oboInOwl:hasDbXref OMIM:617391 semapv:UnspecifiedMatching @@ -13542,6 +13428,7 @@ Orphanet:1954 Congenital lethal erythroderma oboInOwl:hasDbXref OMIM:227090 sema Orphanet:1954 Congenital lethal erythroderma oboInOwl:hasDbXref UMLS:C1856898 semapv:UnspecifiedMatching Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref MESH:C535738 semapv:UnspecifiedMatching Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref OMIM:133190 semapv:UnspecifiedMatching Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref UMLS:C1851481 semapv:UnspecifiedMatching Orphanet:1955 Spinocerebellar ataxia type 34 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching @@ -13562,6 +13449,8 @@ Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome oboInOwl:hasDb Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome oboInOwl:hasDbXref OMIM:133690 semapv:UnspecifiedMatching Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome oboInOwl:hasDbXref UMLS:C4518772 semapv:UnspecifiedMatching Orphanet:1962 Exostoses-anetodermia-brachydactyly type E syndrome oboInOwl:hasDbXref icd11:LD24.21 semapv:UnspecifiedMatching +Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome oboInOwl:hasDbXref OMIM:133750 semapv:UnspecifiedMatching Orphanet:1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome oboInOwl:hasDbXref UMLS:C4749763 semapv:UnspecifiedMatching Orphanet:1968 Flat face-microstomia-ear anomaly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching @@ -13610,14 +13499,8 @@ Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref OMIM:6 Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref OMIM:615483 semapv:UnspecifiedMatching Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref OMIM:616413 semapv:UnspecifiedMatching Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref OMIM:618824 semapv:UnspecifiedMatching -Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref UMLS:C0393590 semapv:UnspecifiedMatching Orphanet:1980 Bilateral striopallidodentate calcinosis oboInOwl:hasDbXref icd11:LD20.4 semapv:UnspecifiedMatching -Orphanet:1983 NON RARE IN EUROPE: Chronic fatigue syndrome oboInOwl:hasDbXref ICD10:G93.3 semapv:UnspecifiedMatching -Orphanet:1983 NON RARE IN EUROPE: Chronic fatigue syndrome oboInOwl:hasDbXref ICD10:G93.3 semapv:UnspecifiedMatching -Orphanet:1984 Fechtner syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -Orphanet:1984 Fechtner syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching Orphanet:1984 Fechtner syndrome oboInOwl:hasDbXref MESH:C537078 semapv:UnspecifiedMatching -Orphanet:1984 Fechtner syndrome oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching Orphanet:1984 Fechtner syndrome oboInOwl:hasDbXref UMLS:C0403445 semapv:UnspecifiedMatching Orphanet:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching @@ -13626,10 +13509,10 @@ Orphanet:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref MedDRA:10079731 semapv: Orphanet:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref OMIM:228250 semapv:UnspecifiedMatching Orphanet:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref UMLS:C1856789 semapv:UnspecifiedMatching Orphanet:1986 Gollop-Wolfgang complex oboInOwl:hasDbXref icd11:LD26.0 semapv:UnspecifiedMatching -Orphanet:1987 Femoral agenesis/hypoplasia oboInOwl:hasDbXref ICD10:Q72.4 semapv:UnspecifiedMatching -Orphanet:1987 Femoral agenesis/hypoplasia oboInOwl:hasDbXref ICD10:Q72.4 semapv:UnspecifiedMatching -Orphanet:1987 Femoral agenesis/hypoplasia oboInOwl:hasDbXref UMLS:C0345375 semapv:UnspecifiedMatching -Orphanet:1987 Femoral agenesis/hypoplasia oboInOwl:hasDbXref icd11:LB9A.8 semapv:UnspecifiedMatching +Orphanet:1987 Isolated femoral agenesis/hypoplasia oboInOwl:hasDbXref ICD10:Q72.4 semapv:UnspecifiedMatching +Orphanet:1987 Isolated femoral agenesis/hypoplasia oboInOwl:hasDbXref ICD10:Q72.4 semapv:UnspecifiedMatching +Orphanet:1987 Isolated femoral agenesis/hypoplasia oboInOwl:hasDbXref UMLS:C0345375 semapv:UnspecifiedMatching +Orphanet:1987 Isolated femoral agenesis/hypoplasia oboInOwl:hasDbXref icd11:LB9A.8 semapv:UnspecifiedMatching Orphanet:1988 Femoral-facial syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1988 Femoral-facial syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:1988 Femoral-facial syndrome oboInOwl:hasDbXref MESH:C537916 semapv:UnspecifiedMatching @@ -13669,6 +13552,7 @@ Orphanet:199247 Corticosteroid-binding globulin deficiency oboInOwl:hasDbXref OM Orphanet:199247 Corticosteroid-binding globulin deficiency oboInOwl:hasDbXref UMLS:C1852529 semapv:UnspecifiedMatching Orphanet:199251 Ledderhose disease oboInOwl:hasDbXref ICD10:M72.2 semapv:UnspecifiedMatching Orphanet:199251 Ledderhose disease oboInOwl:hasDbXref ICD10:M72.2 semapv:UnspecifiedMatching +Orphanet:199251 Ledderhose disease oboInOwl:hasDbXref MESH:D000071380 semapv:UnspecifiedMatching Orphanet:199251 Ledderhose disease oboInOwl:hasDbXref MedDRA:10035154 semapv:UnspecifiedMatching Orphanet:199251 Ledderhose disease oboInOwl:hasDbXref UMLS:C0158360 semapv:UnspecifiedMatching Orphanet:199251 Ledderhose disease oboInOwl:hasDbXref icd11:FB51.Y semapv:UnspecifiedMatching @@ -13697,6 +13581,7 @@ Orphanet:199279 Familial angiolipomatosis oboInOwl:hasDbXref UMLS:C1859784 semap Orphanet:199282 Harlequin syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching Orphanet:199282 Harlequin syndrome oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching Orphanet:199282 Harlequin syndrome oboInOwl:hasDbXref MESH:C535634 semapv:UnspecifiedMatching +Orphanet:199282 Harlequin syndrome oboInOwl:hasDbXref MedDRA:10076575 semapv:UnspecifiedMatching Orphanet:199282 Harlequin syndrome oboInOwl:hasDbXref UMLS:C2029348 semapv:UnspecifiedMatching Orphanet:199282 Harlequin syndrome oboInOwl:hasDbXref icd11:EE01.0 semapv:UnspecifiedMatching Orphanet:199285 Hereditary hypercarotenemia and vitamin A deficiency oboInOwl:hasDbXref ICD10:E50.8 semapv:UnspecifiedMatching @@ -13775,7 +13660,6 @@ Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:616788 semapv:Unspecifi Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref OMIM:618149 semapv:UnspecifiedMatching Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref UMLS:C0158646 semapv:UnspecifiedMatching Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref icd11:LA40 semapv:UnspecifiedMatching -Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref icd11:LA41 semapv:UnspecifiedMatching Orphanet:199306 Cleft lip/palate oboInOwl:hasDbXref icd11:LA42 semapv:UnspecifiedMatching Orphanet:199310 Tetragametic chimerism oboInOwl:hasDbXref ICD10:Q99.0 semapv:UnspecifiedMatching Orphanet:199310 Tetragametic chimerism oboInOwl:hasDbXref ICD10:Q99.0 semapv:UnspecifiedMatching @@ -13902,8 +13786,10 @@ Orphanet:20 3-hydroxy-3-methylglutaric aciduria oboInOwl:hasDbXref UMLS:C0268601 Orphanet:20 3-hydroxy-3-methylglutaric aciduria oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching Orphanet:200 Isolated corpus callosum agenesis oboInOwl:hasDbXref ICD10:Q04.0 semapv:UnspecifiedMatching Orphanet:200 Isolated corpus callosum agenesis oboInOwl:hasDbXref ICD10:Q04.0 semapv:UnspecifiedMatching +Orphanet:200 Isolated corpus callosum agenesis oboInOwl:hasDbXref MESH:D061085 semapv:UnspecifiedMatching Orphanet:200 Isolated corpus callosum agenesis oboInOwl:hasDbXref UMLS:C5680463 semapv:UnspecifiedMatching Orphanet:200 Isolated corpus callosum agenesis oboInOwl:hasDbXref icd11:LA05.3 semapv:UnspecifiedMatching +Orphanet:200037 Paroxysmal dystonia oboInOwl:hasDbXref UMLS:C0393588 semapv:UnspecifiedMatching Orphanet:200037 Paroxysmal dystonia oboInOwl:hasDbXref icd11:8A02.2 semapv:UnspecifiedMatching Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -13934,6 +13820,7 @@ Orphanet:200421 Immunodeficiency with factor H anomaly oboInOwl:hasDbXref icd11: Orphanet:2006 Median cleft lip/mandible oboInOwl:hasDbXref ICD10:Q36.1 semapv:UnspecifiedMatching Orphanet:2006 Median cleft lip/mandible oboInOwl:hasDbXref ICD10:Q36.1 semapv:UnspecifiedMatching Orphanet:2006 Median cleft lip/mandible oboInOwl:hasDbXref UMLS:C4518460 semapv:UnspecifiedMatching +Orphanet:2006 Median cleft lip/mandible oboInOwl:hasDbXref icd11:LA51 semapv:UnspecifiedMatching Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome oboInOwl:hasDbXref OMIM:203000 semapv:UnspecifiedMatching @@ -14179,16 +14066,15 @@ Orphanet:2028 Juvenile hyaline fibromatosis oboInOwl:hasDbXref ICD10:M72.8 semap Orphanet:2028 Juvenile hyaline fibromatosis oboInOwl:hasDbXref MESH:D057770 semapv:UnspecifiedMatching Orphanet:2028 Juvenile hyaline fibromatosis oboInOwl:hasDbXref OMIM:228600 semapv:UnspecifiedMatching Orphanet:2028 Juvenile hyaline fibromatosis oboInOwl:hasDbXref icd11:EE6Y semapv:UnspecifiedMatching -Orphanet:2029 Multiple non-ossifying fibromatosis oboInOwl:hasDbXref ICD10:M89.2 semapv:UnspecifiedMatching -Orphanet:2029 Multiple non-ossifying fibromatosis oboInOwl:hasDbXref ICD10:M89.2 semapv:UnspecifiedMatching Orphanet:202940 Anomaly of puberty or/and menstrual cycle of genetic origin oboInOwl:hasDbXref UMLS:C5680789 semapv:UnspecifiedMatching Orphanet:202948 Syndromic microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref UMLS:C5679782 semapv:UnspecifiedMatching Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref MESH:D005354 semapv:UnspecifiedMatching Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref MedDRA:10016632 semapv:UnspecifiedMatching -Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref OMIM:117600 semapv:UnspecifiedMatching Orphanet:2030 Fibrosarcoma oboInOwl:hasDbXref UMLS:C0016057 semapv:UnspecifiedMatching +Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome oboInOwl:hasDbXref MESH:C536515 semapv:UnspecifiedMatching Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome oboInOwl:hasDbXref OMIM:213010 semapv:UnspecifiedMatching Orphanet:2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C2931226 semapv:UnspecifiedMatching @@ -14302,8 +14188,6 @@ Orphanet:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref OMIM:112240 semapv:Unsp Orphanet:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref OMIM:616294 semapv:UnspecifiedMatching Orphanet:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref UMLS:C1862178 semapv:UnspecifiedMatching Orphanet:2050 Cole-Carpenter syndrome oboInOwl:hasDbXref icd11:LD24.KY semapv:UnspecifiedMatching -Orphanet:2051 Fraser-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:2051 Fraser-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2051 Fraser-like syndrome oboInOwl:hasDbXref OMIM:229230 semapv:UnspecifiedMatching Orphanet:2051 Fraser-like syndrome oboInOwl:hasDbXref UMLS:C1856708 semapv:UnspecifiedMatching Orphanet:2052 Fraser syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching @@ -14321,13 +14205,9 @@ Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref MESH:C535483 semapv:Un Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref MedDRA:10073655 semapv:UnspecifiedMatching Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref OMIM:193700 semapv:UnspecifiedMatching Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref OMIM:277720 semapv:UnspecifiedMatching -Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref OMIM:616266 semapv:UnspecifiedMatching Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref OMIM:618436 semapv:UnspecifiedMatching Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref UMLS:C0265224 semapv:UnspecifiedMatching Orphanet:2053 Freeman-Sheldon syndrome oboInOwl:hasDbXref icd11:LD26.4Y semapv:UnspecifiedMatching -Orphanet:2055 Growth deficiency-brachydactyly-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -Orphanet:2055 Growth deficiency-brachydactyly-dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -Orphanet:2055 Growth deficiency-brachydactyly-dysmorphism syndrome oboInOwl:hasDbXref OMIM:609640 semapv:UnspecifiedMatching Orphanet:2055 Growth deficiency-brachydactyly-dysmorphism syndrome oboInOwl:hasDbXref UMLS:C1864825 semapv:UnspecifiedMatching Orphanet:205584 natriuretic peptide A oboInOwl:hasDbXref ENSEMBL:ENSG00000175206 semapv:UnspecifiedMatching Orphanet:205584 natriuretic peptide A oboInOwl:hasDbXref OMIM:108780 semapv:UnspecifiedMatching @@ -14349,6 +14229,8 @@ Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrom Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome oboInOwl:hasDbXref OMIM:210745 semapv:UnspecifiedMatching Orphanet:2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome oboInOwl:hasDbXref UMLS:C4303550 semapv:UnspecifiedMatching +Orphanet:2058 Fryns-Smeets-Thiry syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2058 Fryns-Smeets-Thiry syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2058 Fryns-Smeets-Thiry syndrome oboInOwl:hasDbXref UMLS:C5680810 semapv:UnspecifiedMatching Orphanet:2059 Fryns syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2059 Fryns syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -14362,12 +14244,6 @@ Orphanet:205932 SEC23 homolog B, COPII coat complex component oboInOwl:hasDbXref Orphanet:205932 SEC23 homolog B, COPII coat complex component oboInOwl:hasDbXref uniprot:Q15437 semapv:UnspecifiedMatching Orphanet:205934 mitochondrially encoded tRNA-Pro (CCN) oboInOwl:hasDbXref ENSEMBL:ENSG00000210196 semapv:UnspecifiedMatching Orphanet:205934 mitochondrially encoded tRNA-Pro (CCN) oboInOwl:hasDbXref OMIM:590075 semapv:UnspecifiedMatching -Orphanet:206 NON RARE IN EUROPE: Crohn disease oboInOwl:hasDbXref ICD10:K50.0 semapv:UnspecifiedMatching -Orphanet:206 NON RARE IN EUROPE: Crohn disease oboInOwl:hasDbXref ICD10:K50.0 semapv:UnspecifiedMatching -Orphanet:206 NON RARE IN EUROPE: Crohn disease oboInOwl:hasDbXref ICD10:K50.1 semapv:UnspecifiedMatching -Orphanet:206 NON RARE IN EUROPE: Crohn disease oboInOwl:hasDbXref ICD10:K50.1 semapv:UnspecifiedMatching -Orphanet:206 NON RARE IN EUROPE: Crohn disease oboInOwl:hasDbXref ICD10:K50.8 semapv:UnspecifiedMatching -Orphanet:206 NON RARE IN EUROPE: Crohn disease oboInOwl:hasDbXref ICD10:K50.8 semapv:UnspecifiedMatching Orphanet:2062 Progressive non-infectious anterior vertebral fusion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2062 Progressive non-infectious anterior vertebral fusion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2062 Progressive non-infectious anterior vertebral fusion oboInOwl:hasDbXref UMLS:C4304839 semapv:UnspecifiedMatching @@ -14527,6 +14403,8 @@ Orphanet:206710 Generalized bulbospinal muscular atrophy oboInOwl:hasDbXref UMLS Orphanet:206724 ZFP57 zinc finger protein oboInOwl:hasDbXref ENSEMBL:ENSG00000204644 semapv:UnspecifiedMatching Orphanet:206724 ZFP57 zinc finger protein oboInOwl:hasDbXref OMIM:612192 semapv:UnspecifiedMatching Orphanet:206724 ZFP57 zinc finger protein oboInOwl:hasDbXref uniprot:Q9NU63 semapv:UnspecifiedMatching +Orphanet:2069 Gastrocutaneous syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching +Orphanet:2069 Gastrocutaneous syndrome oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching Orphanet:2069 Gastrocutaneous syndrome oboInOwl:hasDbXref MESH:C535651 semapv:UnspecifiedMatching Orphanet:2069 Gastrocutaneous syndrome oboInOwl:hasDbXref OMIM:137270 semapv:UnspecifiedMatching Orphanet:2069 Gastrocutaneous syndrome oboInOwl:hasDbXref UMLS:C1850899 semapv:UnspecifiedMatching @@ -14544,7 +14422,7 @@ Orphanet:206970 Myotonic syndrome oboInOwl:hasDbXref MESH:D020967 semapv:Unspeci Orphanet:206970 Myotonic syndrome oboInOwl:hasDbXref MedDRA:10028658 semapv:UnspecifiedMatching Orphanet:206970 Myotonic syndrome oboInOwl:hasDbXref UMLS:C5680798 semapv:UnspecifiedMatching Orphanet:206973 Congenital myotonia oboInOwl:hasDbXref MESH:D009224 semapv:UnspecifiedMatching -Orphanet:206973 Congenital myotonia oboInOwl:hasDbXref MedDRA:10028655 semapv:UnspecifiedMatching +Orphanet:206973 Congenital myotonia oboInOwl:hasDbXref MedDRA:10049841 semapv:UnspecifiedMatching Orphanet:206973 Congenital myotonia oboInOwl:hasDbXref icd11:8C71.2 semapv:UnspecifiedMatching Orphanet:206976 Periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching Orphanet:206976 Periodic paralysis oboInOwl:hasDbXref ICD10:G72.3 semapv:UnspecifiedMatching @@ -14629,6 +14507,9 @@ Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:612851 semapv:Unspecifie Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:614223 semapv:UnspecifiedMatching Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref OMIM:614250 semapv:UnspecifiedMatching Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref UMLS:C4543926 semapv:UnspecifiedMatching +Orphanet:2073 Narcolepsy type 1 oboInOwl:hasDbXref icd11:7A20.0 semapv:UnspecifiedMatching +Orphanet:2074 Gemignani syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:2074 Gemignani syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:2074 Gemignani syndrome oboInOwl:hasDbXref MESH:C537678 semapv:UnspecifiedMatching Orphanet:2074 Gemignani syndrome oboInOwl:hasDbXref UMLS:C2931587 semapv:UnspecifiedMatching Orphanet:2075 Genitopalatocardiac syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -14690,6 +14571,8 @@ Orphanet:208447 Bilateral generalized polymicrogyria oboInOwl:hasDbXref ICD10:Q0 Orphanet:208447 Bilateral generalized polymicrogyria oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:208447 Bilateral generalized polymicrogyria oboInOwl:hasDbXref UMLS:C5139324 semapv:UnspecifiedMatching Orphanet:208447 Bilateral generalized polymicrogyria oboInOwl:hasDbXref icd11:LA05.50 semapv:UnspecifiedMatching +Orphanet:2085 Glaucoma-sleep apnea syndrome oboInOwl:hasDbXref ICD10:H40.8 semapv:UnspecifiedMatching +Orphanet:2085 Glaucoma-sleep apnea syndrome oboInOwl:hasDbXref ICD10:H40.8 semapv:UnspecifiedMatching Orphanet:2085 Glaucoma-sleep apnea syndrome oboInOwl:hasDbXref OMIM:137763 semapv:UnspecifiedMatching Orphanet:2085 Glaucoma-sleep apnea syndrome oboInOwl:hasDbXref UMLS:C4304308 semapv:UnspecifiedMatching Orphanet:208513 Spinocerebellar ataxia type 29 oboInOwl:hasDbXref ICD10:G11.0 semapv:UnspecifiedMatching @@ -14813,6 +14696,7 @@ Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spin Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref MESH:C563560 semapv:UnspecifiedMatching Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:158600 semapv:UnspecifiedMatching +Orphanet:209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref UMLS:C5780022 semapv:UnspecifiedMatching Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching Orphanet:209370 Severe neonatal-onset encephalopathy with microcephaly oboInOwl:hasDbXref OMIM:300673 semapv:UnspecifiedMatching @@ -14847,7 +14731,6 @@ Orphanet:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref ICD10:Q78.8 Orphanet:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref MESH:C537915 semapv:UnspecifiedMatching Orphanet:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref OMIM:200700 semapv:UnspecifiedMatching -Orphanet:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref OMIM:609441 semapv:UnspecifiedMatching Orphanet:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref UMLS:C0265260 semapv:UnspecifiedMatching Orphanet:2098 Acromesomelic dysplasia, Grebe type oboInOwl:hasDbXref icd11:LD24.9 semapv:UnspecifiedMatching Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref ICD10:H33.0 semapv:UnspecifiedMatching @@ -14856,8 +14739,6 @@ Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:ha Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref OMIM:609508 semapv:UnspecifiedMatching Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref UMLS:C1836081 semapv:UnspecifiedMatching Orphanet:209867 Autosomal dominant rhegmatogenous retinal detachment oboInOwl:hasDbXref icd11:9B73.0 semapv:UnspecifiedMatching -Orphanet:209893 NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching -Orphanet:209893 NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency oboInOwl:hasDbXref ICD10:E07.8 semapv:UnspecifiedMatching Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E78.0 semapv:UnspecifiedMatching Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E78.0 semapv:UnspecifiedMatching Orphanet:209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency oboInOwl:hasDbXref UMLS:C4751204 semapv:UnspecifiedMatching @@ -14867,6 +14748,8 @@ Orphanet:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref MESH:C567034 sema Orphanet:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref OMIM:610978 semapv:UnspecifiedMatching Orphanet:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref UMLS:C1970269 semapv:UnspecifiedMatching Orphanet:209905 Brain-lung-thyroid syndrome oboInOwl:hasDbXref icd11:CB04.5 semapv:UnspecifiedMatching +Orphanet:209908 Isolated childhood apraxia of speech oboInOwl:hasDbXref ICD10:F80.0 semapv:UnspecifiedMatching +Orphanet:209908 Isolated childhood apraxia of speech oboInOwl:hasDbXref ICD10:F80.0 semapv:UnspecifiedMatching Orphanet:209908 Isolated childhood apraxia of speech oboInOwl:hasDbXref OMIM:602081 semapv:UnspecifiedMatching Orphanet:209908 Isolated childhood apraxia of speech oboInOwl:hasDbXref UMLS:C0750927 semapv:UnspecifiedMatching Orphanet:209916 Extraskeletal myxoid chondrosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching @@ -14901,7 +14784,7 @@ Orphanet:209956 Idiopathic uveal effusion syndrome oboInOwl:hasDbXref UMLS:C4755 Orphanet:209956 Idiopathic uveal effusion syndrome oboInOwl:hasDbXref icd11:9B6Y semapv:UnspecifiedMatching Orphanet:209959 Phacoanaphylactic uveitis oboInOwl:hasDbXref ICD10:H20.2 semapv:UnspecifiedMatching Orphanet:209959 Phacoanaphylactic uveitis oboInOwl:hasDbXref ICD10:H20.2 semapv:UnspecifiedMatching -Orphanet:209959 Phacoanaphylactic uveitis oboInOwl:hasDbXref UMLS:C0339320 semapv:UnspecifiedMatching +Orphanet:209959 Phacoanaphylactic uveitis oboInOwl:hasDbXref UMLS:C1444621 semapv:UnspecifiedMatching Orphanet:209959 Phacoanaphylactic uveitis oboInOwl:hasDbXref icd11:9A96.Y semapv:UnspecifiedMatching Orphanet:209964 Solitary rectal ulcer syndrome oboInOwl:hasDbXref ICD10:K62.6 semapv:UnspecifiedMatching Orphanet:209964 Solitary rectal ulcer syndrome oboInOwl:hasDbXref ICD10:K62.6 semapv:UnspecifiedMatching @@ -14963,7 +14846,7 @@ Orphanet:2101 Grubben-de Cock-Borghgraef syndrome oboInOwl:hasDbXref UMLS:C29315 Orphanet:210110 Intermediate osteopetrosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:210110 Intermediate osteopetrosis oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:210110 Intermediate osteopetrosis oboInOwl:hasDbXref OMIM:611497 semapv:UnspecifiedMatching -Orphanet:210110 Intermediate osteopetrosis oboInOwl:hasDbXref UMLS:C5679797 semapv:UnspecifiedMatching +Orphanet:210110 Intermediate osteopetrosis oboInOwl:hasDbXref UMLS:C0432261 semapv:UnspecifiedMatching Orphanet:210110 Intermediate osteopetrosis oboInOwl:hasDbXref icd11:LD24.10 semapv:UnspecifiedMatching Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:210115 Sterile multifocal osteomyelitis with periostitis and pustulosis oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching @@ -14986,6 +14869,8 @@ Orphanet:210128 Urocanic aciduria oboInOwl:hasDbXref icd11:5C50.21 semapv:Unspec Orphanet:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome oboInOwl:hasDbXref UMLS:C4751169 semapv:UnspecifiedMatching +Orphanet:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching +Orphanet:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome oboInOwl:hasDbXref ICD10:J84.1 semapv:UnspecifiedMatching Orphanet:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome oboInOwl:hasDbXref UMLS:C4510085 semapv:UnspecifiedMatching Orphanet:210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome oboInOwl:hasDbXref icd11:DB99.Y semapv:UnspecifiedMatching Orphanet:210141 Inherited congenital spastic tetraplegia oboInOwl:hasDbXref ICD10:G82.4 semapv:UnspecifiedMatching @@ -15033,8 +14918,6 @@ Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome oboInOwl:ha Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome oboInOwl:hasDbXref OMIM:605309 semapv:UnspecifiedMatching Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome oboInOwl:hasDbXref OMIM:613926 semapv:UnspecifiedMatching Orphanet:210548 Macrocephaly-intellectual disability-autism syndrome oboInOwl:hasDbXref UMLS:C5190809 semapv:UnspecifiedMatching -Orphanet:210566 Myoclonic dystonia 15 oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching -Orphanet:210566 Myoclonic dystonia 15 oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching Orphanet:210566 Myoclonic dystonia 15 oboInOwl:hasDbXref MESH:C538002 semapv:UnspecifiedMatching Orphanet:210566 Myoclonic dystonia 15 oboInOwl:hasDbXref OMIM:607488 semapv:UnspecifiedMatching Orphanet:210566 Myoclonic dystonia 15 oboInOwl:hasDbXref UMLS:C1843786 semapv:UnspecifiedMatching @@ -15047,13 +14930,14 @@ Orphanet:210571 Dystonia 16 oboInOwl:hasDbXref icd11:8A02.12 semapv:UnspecifiedM Orphanet:210576 Congenital temporomandibular joint ankylosis oboInOwl:hasDbXref ICD10:K07.6 semapv:UnspecifiedMatching Orphanet:210576 Congenital temporomandibular joint ankylosis oboInOwl:hasDbXref ICD10:K07.6 semapv:UnspecifiedMatching Orphanet:210576 Congenital temporomandibular joint ankylosis oboInOwl:hasDbXref UMLS:C4706319 semapv:UnspecifiedMatching +Orphanet:210581 Temporomandibular joint anomaly oboInOwl:hasDbXref UMLS:C1865318 semapv:UnspecifiedMatching Orphanet:210581 Temporomandibular joint anomaly oboInOwl:hasDbXref icd11:DA0E.8 semapv:UnspecifiedMatching Orphanet:210584 Spindle cell hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:210584 Spindle cell hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:210584 Spindle cell hemangioma oboInOwl:hasDbXref UMLS:C1304508 semapv:UnspecifiedMatching Orphanet:210584 Spindle cell hemangioma oboInOwl:hasDbXref icd11:2F2Y semapv:UnspecifiedMatching Orphanet:210584 Spindle cell hemangioma oboInOwl:hasDbXref icd11:XH6RP8 semapv:UnspecifiedMatching -Orphanet:210589 Infantile hemangioma of rare localization oboInOwl:hasDbXref UMLS:C3839613 semapv:UnspecifiedMatching +Orphanet:210589 Rare infantile hemangioma oboInOwl:hasDbXref UMLS:C3839613 semapv:UnspecifiedMatching Orphanet:2107 Hall-Riggs syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2107 Hall-Riggs syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2107 Hall-Riggs syndrome oboInOwl:hasDbXref OMIM:234250 semapv:UnspecifiedMatching @@ -15118,7 +15002,6 @@ Orphanet:211266 Rare arteriovenous malformation oboInOwl:hasDbXref MESH:D001165 Orphanet:211266 Rare arteriovenous malformation oboInOwl:hasDbXref MedDRA:10003193 semapv:UnspecifiedMatching Orphanet:211266 Rare arteriovenous malformation oboInOwl:hasDbXref UMLS:C5680857 semapv:UnspecifiedMatching Orphanet:211277 Complex vascular malformation with associated anomalies oboInOwl:hasDbXref UMLS:C5679799 semapv:UnspecifiedMatching -Orphanet:2113 Congenital hypothalamic hamartoma syndrome oboInOwl:hasDbXref OMIM:241800 semapv:UnspecifiedMatching Orphanet:2114 Hip dysplasia, Beukes type oboInOwl:hasDbXref ICD10:Q65.8 semapv:UnspecifiedMatching Orphanet:2114 Hip dysplasia, Beukes type oboInOwl:hasDbXref ICD10:Q65.8 semapv:UnspecifiedMatching Orphanet:2114 Hip dysplasia, Beukes type oboInOwl:hasDbXref MESH:C564185 semapv:UnspecifiedMatching @@ -15165,11 +15048,10 @@ Orphanet:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref MESH:C537007 se Orphanet:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref UMLS:C1367420 semapv:UnspecifiedMatching Orphanet:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref icd11:2F72.Y semapv:UnspecifiedMatching Orphanet:2122 Kaposiform hemangioendothelioma oboInOwl:hasDbXref icd11:XH6PA4 semapv:UnspecifiedMatching -Orphanet:2123 Diffuse neonatal hemangiomatosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -Orphanet:2123 Diffuse neonatal hemangiomatosis oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -Orphanet:2123 Diffuse neonatal hemangiomatosis oboInOwl:hasDbXref UMLS:C0474965 semapv:UnspecifiedMatching -Orphanet:2123 Diffuse neonatal hemangiomatosis oboInOwl:hasDbXref icd11:2E81.2Y semapv:UnspecifiedMatching -Orphanet:2124 Cavernous hemangiomas of face-supraumbilical midline raphe syndrome oboInOwl:hasDbXref OMIM:140850 semapv:UnspecifiedMatching +Orphanet:2123 Multifocal infantile hemangioma with extracutenous involvement oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2123 Multifocal infantile hemangioma with extracutenous involvement oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2123 Multifocal infantile hemangioma with extracutenous involvement oboInOwl:hasDbXref UMLS:C0474965 semapv:UnspecifiedMatching +Orphanet:2123 Multifocal infantile hemangioma with extracutenous involvement oboInOwl:hasDbXref icd11:2E81.2Y semapv:UnspecifiedMatching Orphanet:2124 Cavernous hemangiomas of face-supraumbilical midline raphe syndrome oboInOwl:hasDbXref UMLS:C0472694 semapv:UnspecifiedMatching Orphanet:2125 Sacral hemangiomas-multiple congenital abnormalities syndrome oboInOwl:hasDbXref UMLS:C2931443 semapv:UnspecifiedMatching Orphanet:212594 prodynorphin oboInOwl:hasDbXref ENSEMBL:ENSG00000101327 semapv:UnspecifiedMatching @@ -15229,8 +15111,8 @@ Orphanet:213 Cystinosis oboInOwl:hasDbXref OMIM:219800 semapv:UnspecifiedMatchin Orphanet:213 Cystinosis oboInOwl:hasDbXref OMIM:219900 semapv:UnspecifiedMatching Orphanet:213 Cystinosis oboInOwl:hasDbXref UMLS:C4316899 semapv:UnspecifiedMatching Orphanet:213 Cystinosis oboInOwl:hasDbXref icd11:5C60.1 semapv:UnspecifiedMatching -Orphanet:2130 Hemimelia oboInOwl:hasDbXref MedDRA:10019464 semapv:UnspecifiedMatching -Orphanet:2130 Hemimelia oboInOwl:hasDbXref UMLS:C0018987 semapv:UnspecifiedMatching +Orphanet:2130 Non-syndromic hemimelia oboInOwl:hasDbXref MedDRA:10019464 semapv:UnspecifiedMatching +Orphanet:2130 Non-syndromic hemimelia oboInOwl:hasDbXref UMLS:C0018987 semapv:UnspecifiedMatching Orphanet:213048 protein activator of interferon induced protein kinase EIF2AK2 oboInOwl:hasDbXref ENSEMBL:ENSG00000180228 semapv:UnspecifiedMatching Orphanet:213048 protein activator of interferon induced protein kinase EIF2AK2 oboInOwl:hasDbXref OMIM:603424 semapv:UnspecifiedMatching Orphanet:213048 protein activator of interferon induced protein kinase EIF2AK2 oboInOwl:hasDbXref uniprot:O75569 semapv:UnspecifiedMatching @@ -15282,10 +15164,7 @@ Orphanet:213504 Adenocarcinoma of ovary oboInOwl:hasDbXref UMLS:C0948216 semapv: Orphanet:213512 Malignant mixed Müllerian tumor of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:213512 Malignant mixed Müllerian tumor of the ovary oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:213512 Malignant mixed Müllerian tumor of the ovary oboInOwl:hasDbXref UMLS:C0392998 semapv:UnspecifiedMatching -Orphanet:213524 Hereditary site-specific ovarian cancer syndrome oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching -Orphanet:213524 Hereditary site-specific ovarian cancer syndrome oboInOwl:hasDbXref ICD10:C56 semapv:UnspecifiedMatching Orphanet:213524 Hereditary site-specific ovarian cancer syndrome oboInOwl:hasDbXref UMLS:C4749652 semapv:UnspecifiedMatching -Orphanet:213524 Hereditary site-specific ovarian cancer syndrome oboInOwl:hasDbXref icd11:2C73.Y semapv:UnspecifiedMatching Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.0 semapv:UnspecifiedMatching Orphanet:213528 Rare adenocarcinoma of the breast oboInOwl:hasDbXref ICD10:C50.1 semapv:UnspecifiedMatching @@ -15709,10 +15588,6 @@ Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome oboInOwl:hasDbXref MES Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome oboInOwl:hasDbXref OMIM:601370 semapv:UnspecifiedMatching Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome oboInOwl:hasDbXref UMLS:C1832424 semapv:UnspecifiedMatching Orphanet:2163 Holoprosencephaly-craniosynostosis syndrome oboInOwl:hasDbXref icd11:LD20.3 semapv:UnspecifiedMatching -Orphanet:216445 Prelingual non-syndromic genetic deafness oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching -Orphanet:216445 Prelingual non-syndromic genetic deafness oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching -Orphanet:216452 Postlingual non-syndromic genetic deafness oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching -Orphanet:216452 Postlingual non-syndromic genetic deafness oboInOwl:hasDbXref ICD10:H90.5 semapv:UnspecifiedMatching Orphanet:2165 Holoprosencephaly-caudal dysgenesis syndrome oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching Orphanet:2165 Holoprosencephaly-caudal dysgenesis syndrome oboInOwl:hasDbXref ICD10:Q04.2 semapv:UnspecifiedMatching Orphanet:2165 Holoprosencephaly-caudal dysgenesis syndrome oboInOwl:hasDbXref UMLS:C4749731 semapv:UnspecifiedMatching @@ -15801,6 +15676,7 @@ Orphanet:216866 Classic pantothenate kinase-associated neurodegeneration oboInOw Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref ICD10:G23.0 semapv:UnspecifiedMatching Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref OMIM:234200 semapv:UnspecifiedMatching +Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref UMLS:C5568621 semapv:UnspecifiedMatching Orphanet:216873 Atypical pantothenate kinase-associated neurodegeneration oboInOwl:hasDbXref icd11:5C64.10 semapv:UnspecifiedMatching Orphanet:2169 Methylcobalamin deficiency type cblE oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching Orphanet:2169 Methylcobalamin deficiency type cblE oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching @@ -15828,8 +15704,6 @@ Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset oboInOwl:has Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset oboInOwl:hasDbXref UMLS:C5680869 semapv:UnspecifiedMatching Orphanet:216986 Niemann-Pick disease type C, adult neurologic onset oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching -Orphanet:216989 Autosomal dominant dystrophic epidermolysis bullosa, Pasini type oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching -Orphanet:216989 Autosomal dominant dystrophic epidermolysis bullosa, Pasini type oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching Orphanet:216989 Autosomal dominant dystrophic epidermolysis bullosa, Pasini type oboInOwl:hasDbXref UMLS:C0432322 semapv:UnspecifiedMatching Orphanet:217 Isolated Dandy-Walker malformation oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching Orphanet:217 Isolated Dandy-Walker malformation oboInOwl:hasDbXref ICD10:Q03.1 semapv:UnspecifiedMatching @@ -15863,20 +15737,16 @@ Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type oboInOwl:hasDbXref OMIM:612946 semapv:UnspecifiedMatching Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type oboInOwl:hasDbXref UMLS:C2751878 semapv:UnspecifiedMatching Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching -Orphanet:217031 NON RARE IN EUROPE: Obesity due to MC3R deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching -Orphanet:217031 NON RARE IN EUROPE: Obesity due to MC3R deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching -Orphanet:217034 Male infertility with normal virilization due to meiosis defect oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching -Orphanet:217034 Male infertility with normal virilization due to meiosis defect oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref OMIM:608340 semapv:UnspecifiedMatching Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref UMLS:C4750774 semapv:UnspecifiedMatching Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A oboInOwl:hasDbXref icd11:8C20.2 semapv:UnspecifiedMatching -Orphanet:217059 Isolated congenital digital clubbing oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching -Orphanet:217059 Isolated congenital digital clubbing oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching -Orphanet:217059 Isolated congenital digital clubbing oboInOwl:hasDbXref OMIM:119900 semapv:UnspecifiedMatching -Orphanet:217059 Isolated congenital digital clubbing oboInOwl:hasDbXref UMLS:C0345408 semapv:UnspecifiedMatching -Orphanet:217059 Isolated congenital digital clubbing oboInOwl:hasDbXref icd11:LB90.5 semapv:UnspecifiedMatching +Orphanet:217059 Isolated nail clubbing oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching +Orphanet:217059 Isolated nail clubbing oboInOwl:hasDbXref ICD10:Q68.1 semapv:UnspecifiedMatching +Orphanet:217059 Isolated nail clubbing oboInOwl:hasDbXref OMIM:119900 semapv:UnspecifiedMatching +Orphanet:217059 Isolated nail clubbing oboInOwl:hasDbXref UMLS:C0345408 semapv:UnspecifiedMatching +Orphanet:217059 Isolated nail clubbing oboInOwl:hasDbXref icd11:LB90.5 semapv:UnspecifiedMatching Orphanet:217064 5-fluorouracil poisoning oboInOwl:hasDbXref ICD10:T45.1 semapv:UnspecifiedMatching Orphanet:217064 5-fluorouracil poisoning oboInOwl:hasDbXref ICD10:T45.1 semapv:UnspecifiedMatching Orphanet:217064 5-fluorouracil poisoning oboInOwl:hasDbXref UMLS:C0274576 semapv:UnspecifiedMatching @@ -15897,6 +15767,7 @@ Orphanet:217080 Pulmonary fungal infections in patients deemed at risk oboInOwl: Orphanet:217085 Mucopolysaccharidosis type 2, severe form oboInOwl:hasDbXref ICD10:E76.1 semapv:UnspecifiedMatching Orphanet:217085 Mucopolysaccharidosis type 2, severe form oboInOwl:hasDbXref ICD10:E76.1 semapv:UnspecifiedMatching Orphanet:217085 Mucopolysaccharidosis type 2, severe form oboInOwl:hasDbXref OMIM:309900 semapv:UnspecifiedMatching +Orphanet:217085 Mucopolysaccharidosis type 2, severe form oboInOwl:hasDbXref UMLS:C0342841 semapv:UnspecifiedMatching Orphanet:217085 Mucopolysaccharidosis type 2, severe form oboInOwl:hasDbXref icd11:5C56.31 semapv:UnspecifiedMatching Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form oboInOwl:hasDbXref ICD10:E76.1 semapv:UnspecifiedMatching Orphanet:217093 Mucopolysaccharidosis type 2, attenuated form oboInOwl:hasDbXref ICD10:E76.1 semapv:UnspecifiedMatching @@ -15914,7 +15785,7 @@ Orphanet:2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome oboInOw Orphanet:217253 NMDA receptor encephalitis oboInOwl:hasDbXref ICD10:G13.1 semapv:UnspecifiedMatching Orphanet:217253 NMDA receptor encephalitis oboInOwl:hasDbXref ICD10:G13.1 semapv:UnspecifiedMatching Orphanet:217253 NMDA receptor encephalitis oboInOwl:hasDbXref MESH:D060426 semapv:UnspecifiedMatching -Orphanet:217253 NMDA receptor encephalitis oboInOwl:hasDbXref UMLS:C2986717 semapv:UnspecifiedMatching +Orphanet:217253 NMDA receptor encephalitis oboInOwl:hasDbXref UMLS:C5700343 semapv:UnspecifiedMatching Orphanet:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref ICD10:A81.2 semapv:UnspecifiedMatching Orphanet:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref ICD10:A81.2 semapv:UnspecifiedMatching Orphanet:217260 Progressive multifocal leukoencephalopathy oboInOwl:hasDbXref MESH:D007968 semapv:UnspecifiedMatching @@ -15927,9 +15798,6 @@ Orphanet:217266 BNAR syndrome oboInOwl:hasDbXref MESH:C567672 semapv:Unspecified Orphanet:217266 BNAR syndrome oboInOwl:hasDbXref OMIM:608980 semapv:UnspecifiedMatching Orphanet:217266 BNAR syndrome oboInOwl:hasDbXref UMLS:C2750433 semapv:UnspecifiedMatching Orphanet:217266 BNAR syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching -Orphanet:217315 Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -Orphanet:217315 Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -Orphanet:217315 Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:216550 semapv:UnspecifiedMatching Orphanet:217315 Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome oboInOwl:hasDbXref UMLS:C1854061 semapv:UnspecifiedMatching Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:217330 REN-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching @@ -15954,7 +15822,7 @@ Orphanet:217346 19q13.11 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.K0 Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins oboInOwl:hasDbXref OMIM:613070 semapv:UnspecifiedMatching -Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins oboInOwl:hasDbXref UMLS:C5679818 semapv:UnspecifiedMatching +Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins oboInOwl:hasDbXref UMLS:C4304057 semapv:UnspecifiedMatching Orphanet:217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching Orphanet:217377 Microduplication Xp11.22p11.23 syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:217377 Microduplication Xp11.22p11.23 syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching @@ -16017,6 +15885,8 @@ Orphanet:217566 Chronic respiratory distress with surfactant metabolism deficien Orphanet:217569 Rare hypertrophic cardiomyopathy oboInOwl:hasDbXref MESH:D002312 semapv:UnspecifiedMatching Orphanet:217569 Rare hypertrophic cardiomyopathy oboInOwl:hasDbXref MedDRA:10020871 semapv:UnspecifiedMatching Orphanet:217569 Rare hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS:C5680884 semapv:UnspecifiedMatching +Orphanet:217572 Glycogen storage disease with hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS:C5397268 semapv:UnspecifiedMatching +Orphanet:217581 Lysosomal disease with hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS:C5397275 semapv:UnspecifiedMatching Orphanet:217587 Mitochondrial disease with hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS:C5680879 semapv:UnspecifiedMatching Orphanet:217591 Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS:C5680880 semapv:UnspecifiedMatching Orphanet:217595 Syndrome associated with hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS:C5680881 semapv:UnspecifiedMatching @@ -16024,7 +15894,6 @@ Orphanet:217598 Non-familial hypertrophic cardiomyopathy oboInOwl:hasDbXref UMLS Orphanet:2176 Infantile systemic hyalinosis oboInOwl:hasDbXref ICD10:E78.8 semapv:UnspecifiedMatching Orphanet:2176 Infantile systemic hyalinosis oboInOwl:hasDbXref ICD10:E78.8 semapv:UnspecifiedMatching Orphanet:2176 Infantile systemic hyalinosis oboInOwl:hasDbXref OMIM:228600 semapv:UnspecifiedMatching -Orphanet:2176 Infantile systemic hyalinosis oboInOwl:hasDbXref OMIM:236490 semapv:UnspecifiedMatching Orphanet:2176 Infantile systemic hyalinosis oboInOwl:hasDbXref icd11:EE6Y semapv:UnspecifiedMatching Orphanet:217604 Dilated cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching Orphanet:217604 Dilated cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching @@ -16041,7 +15910,7 @@ Orphanet:217619 Syndrome associated with dilated cardiomyopathy oboInOwl:hasDbXr Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy oboInOwl:hasDbXref OMIM:605362 semapv:UnspecifiedMatching -Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C5679819 semapv:UnspecifiedMatching +Orphanet:217622 Sensorineural deafness with dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C4510220 semapv:UnspecifiedMatching Orphanet:217629 Non-familial dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C5681849 semapv:UnspecifiedMatching Orphanet:217629 Non-familial dilated cardiomyopathy oboInOwl:hasDbXref icd11:BC43.01 semapv:UnspecifiedMatching Orphanet:217632 Restrictive cardiomyopathy oboInOwl:hasDbXref MESH:D002313 semapv:UnspecifiedMatching @@ -16114,6 +15983,8 @@ Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius oboInOwl:ha Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius oboInOwl:hasDbXref OMIM:307000 semapv:UnspecifiedMatching Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius oboInOwl:hasDbXref UMLS:C0265216 semapv:UnspecifiedMatching Orphanet:2182 Hydrocephalus with stenosis of the aqueduct of Sylvius oboInOwl:hasDbXref icd11:LA04.0 semapv:UnspecifiedMatching +Orphanet:2183 Hydrocephalus-obesity-hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2183 Hydrocephalus-obesity-hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2183 Hydrocephalus-obesity-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C4303476 semapv:UnspecifiedMatching Orphanet:218358 syntrophin alpha 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000101400 semapv:UnspecifiedMatching Orphanet:218358 syntrophin alpha 1 oboInOwl:hasDbXref OMIM:601017 semapv:UnspecifiedMatching @@ -16121,6 +15992,8 @@ Orphanet:218358 syntrophin alpha 1 oboInOwl:hasDbXref uniprot:Q13424 semapv:Unsp Orphanet:218376 major histocompatibility complex, class I, A oboInOwl:hasDbXref ENSEMBL:ENSG00000206503 semapv:UnspecifiedMatching Orphanet:218376 major histocompatibility complex, class I, A oboInOwl:hasDbXref OMIM:142800 semapv:UnspecifiedMatching Orphanet:218376 major histocompatibility complex, class I, A oboInOwl:hasDbXref uniprot:P04439 semapv:UnspecifiedMatching +Orphanet:2184 Hydrocephaly-low insertion umbilicus syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:2184 Hydrocephaly-low insertion umbilicus syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2184 Hydrocephaly-low insertion umbilicus syndrome oboInOwl:hasDbXref MESH:C538107 semapv:UnspecifiedMatching Orphanet:2184 Hydrocephaly-low insertion umbilicus syndrome oboInOwl:hasDbXref UMLS:C2931734 semapv:UnspecifiedMatching Orphanet:218436 Rare cardiac rhythm disease oboInOwl:hasDbXref UMLS:C5680887 semapv:UnspecifiedMatching @@ -16219,6 +16092,8 @@ Orphanet:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref MESH Orphanet:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref OMIM:148350 semapv:UnspecifiedMatching Orphanet:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref UMLS:C1835672 semapv:UnspecifiedMatching Orphanet:2202 Palmoplantar keratoderma-deafness syndrome oboInOwl:hasDbXref icd11:EC20.30 semapv:UnspecifiedMatching +Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref OMIM:278730 semapv:UnspecifiedMatching Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref OMIM:278760 semapv:UnspecifiedMatching Orphanet:220295 Xeroderma pigmentosum-Cockayne syndrome complex oboInOwl:hasDbXref OMIM:278780 semapv:UnspecifiedMatching @@ -16246,6 +16121,7 @@ Orphanet:220393 Diffuse cutaneous systemic sclerosis oboInOwl:hasDbXref ICD10:M3 Orphanet:220393 Diffuse cutaneous systemic sclerosis oboInOwl:hasDbXref icd11:4A42.1 semapv:UnspecifiedMatching Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching +Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type oboInOwl:hasDbXref UMLS:C5780027 semapv:UnspecifiedMatching Orphanet:2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching Orphanet:220402 Limited cutaneous systemic sclerosis oboInOwl:hasDbXref ICD10:M34.1 semapv:UnspecifiedMatching Orphanet:220402 Limited cutaneous systemic sclerosis oboInOwl:hasDbXref ICD10:M34.1 semapv:UnspecifiedMatching @@ -16360,10 +16236,12 @@ Orphanet:221008 Rothmund-Thomson syndrome type 1 oboInOwl:hasDbXref ICD10:Q82.8 Orphanet:221008 Rothmund-Thomson syndrome type 1 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:221008 Rothmund-Thomson syndrome type 1 oboInOwl:hasDbXref OMIM:268400 semapv:UnspecifiedMatching Orphanet:221008 Rothmund-Thomson syndrome type 1 oboInOwl:hasDbXref OMIM:618625 semapv:UnspecifiedMatching +Orphanet:221008 Rothmund-Thomson syndrome type 1 oboInOwl:hasDbXref UMLS:C5231433 semapv:UnspecifiedMatching Orphanet:221008 Rothmund-Thomson syndrome type 1 oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching Orphanet:221016 Rothmund-Thomson syndrome type 2 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:221016 Rothmund-Thomson syndrome type 2 oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:221016 Rothmund-Thomson syndrome type 2 oboInOwl:hasDbXref OMIM:268400 semapv:UnspecifiedMatching +Orphanet:221016 Rothmund-Thomson syndrome type 2 oboInOwl:hasDbXref UMLS:C5203410 semapv:UnspecifiedMatching Orphanet:221016 Rothmund-Thomson syndrome type 2 oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:221039 Hereditary sclerosing poikiloderma, Weary type oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching @@ -16408,7 +16286,6 @@ Orphanet:221078 Combined hyperactive dysfunction syndrome of the cranial nerves Orphanet:221083 Hemifacial spasm oboInOwl:hasDbXref ICD10:G51.3 semapv:UnspecifiedMatching Orphanet:221083 Hemifacial spasm oboInOwl:hasDbXref ICD10:G51.3 semapv:UnspecifiedMatching Orphanet:221083 Hemifacial spasm oboInOwl:hasDbXref MESH:D019569 semapv:UnspecifiedMatching -Orphanet:221083 Hemifacial spasm oboInOwl:hasDbXref UMLS:C0278152 semapv:UnspecifiedMatching Orphanet:221083 Hemifacial spasm oboInOwl:hasDbXref UMLS:C1841639 semapv:UnspecifiedMatching Orphanet:221083 Hemifacial spasm oboInOwl:hasDbXref icd11:8B88.2 semapv:UnspecifiedMatching Orphanet:221091 Trigeminal neuralgia oboInOwl:hasDbXref ICD10:G50.0 semapv:UnspecifiedMatching @@ -16454,6 +16331,7 @@ Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies ob Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies oboInOwl:hasDbXref MESH:C567641 semapv:UnspecifiedMatching Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies oboInOwl:hasDbXref OMIM:613328 semapv:UnspecifiedMatching Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies oboInOwl:hasDbXref UMLS:C2750068 semapv:UnspecifiedMatching +Orphanet:221139 Combined immunodeficiency with facio-oculo-skeletal anomalies oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching Orphanet:221142 Confetti-like macular atrophy oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatching Orphanet:221142 Confetti-like macular atrophy oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatching Orphanet:221142 Confetti-like macular atrophy oboInOwl:hasDbXref UMLS:C5680892 semapv:UnspecifiedMatching @@ -16553,8 +16431,6 @@ Orphanet:2224 Hypertryptophanemia oboInOwl:hasDbXref OMIM:600627 semapv:Unspecif Orphanet:2224 Hypertryptophanemia oboInOwl:hasDbXref UMLS:C2931837 semapv:UnspecifiedMatching Orphanet:2224 Hypertryptophanemia oboInOwl:hasDbXref icd11:5C50.3 semapv:UnspecifiedMatching Orphanet:222628 Hereditary poikiloderma oboInOwl:hasDbXref UMLS:C5680891 semapv:UnspecifiedMatching -Orphanet:2227 NON RARE IN EUROPE: Hypodontia oboInOwl:hasDbXref ICD10:K00.0 semapv:UnspecifiedMatching -Orphanet:2227 NON RARE IN EUROPE: Hypodontia oboInOwl:hasDbXref ICD10:K00.0 semapv:UnspecifiedMatching Orphanet:2228 Hypodontia-dysplasia of nails syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:2228 Hypodontia-dysplasia of nails syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:2228 Hypodontia-dysplasia of nails syndrome oboInOwl:hasDbXref MESH:C536736 semapv:UnspecifiedMatching @@ -16566,14 +16442,14 @@ Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome obo Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref MESH:C535580 semapv:UnspecifiedMatching Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:212112 semapv:UnspecifiedMatching Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome oboInOwl:hasDbXref UMLS:C0796083 semapv:UnspecifiedMatching -Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref ICD10:N25.1 semapv:UnspecifiedMatching -Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref ICD10:N25.1 semapv:UnspecifiedMatching -Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref MESH:D018500 semapv:UnspecifiedMatching -Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref MedDRA:10029147 semapv:UnspecifiedMatching -Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref OMIM:125800 semapv:UnspecifiedMatching -Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref OMIM:304800 semapv:UnspecifiedMatching -Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref UMLS:C0162283 semapv:UnspecifiedMatching -Orphanet:223 Nephrogenic diabetes insipidus oboInOwl:hasDbXref icd11:GB90.4A semapv:UnspecifiedMatching +Orphanet:223 Arginine vasopressin resistance oboInOwl:hasDbXref ICD10:N25.1 semapv:UnspecifiedMatching +Orphanet:223 Arginine vasopressin resistance oboInOwl:hasDbXref ICD10:N25.1 semapv:UnspecifiedMatching +Orphanet:223 Arginine vasopressin resistance oboInOwl:hasDbXref MESH:D018500 semapv:UnspecifiedMatching +Orphanet:223 Arginine vasopressin resistance oboInOwl:hasDbXref MedDRA:10029147 semapv:UnspecifiedMatching +Orphanet:223 Arginine vasopressin resistance oboInOwl:hasDbXref OMIM:125800 semapv:UnspecifiedMatching +Orphanet:223 Arginine vasopressin resistance oboInOwl:hasDbXref OMIM:304800 semapv:UnspecifiedMatching +Orphanet:223 Arginine vasopressin resistance oboInOwl:hasDbXref UMLS:C0162283 semapv:UnspecifiedMatching +Orphanet:223 Arginine vasopressin resistance oboInOwl:hasDbXref icd11:GB90.4A semapv:UnspecifiedMatching Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome oboInOwl:hasDbXref UMLS:C4303079 semapv:UnspecifiedMatching @@ -16596,6 +16472,8 @@ Orphanet:2234 Male hypergonadotropic hypogonadism-intellectual disability-skelet Orphanet:223447 plasminogen activator, urokinase oboInOwl:hasDbXref ENSEMBL:ENSG00000122861 semapv:UnspecifiedMatching Orphanet:223447 plasminogen activator, urokinase oboInOwl:hasDbXref OMIM:191840 semapv:UnspecifiedMatching Orphanet:223447 plasminogen activator, urokinase oboInOwl:hasDbXref uniprot:P00749 semapv:UnspecifiedMatching +Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching +Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome oboInOwl:hasDbXref MESH:C538075 semapv:UnspecifiedMatching Orphanet:2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C2931722 semapv:UnspecifiedMatching Orphanet:223546 NIPA like domain containing 4 oboInOwl:hasDbXref ENSEMBL:ENSG00000172548 semapv:UnspecifiedMatching @@ -16664,10 +16542,10 @@ Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome oboInOwl:hasDbXre Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome oboInOwl:hasDbXref MESH:C536934 semapv:UnspecifiedMatching Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:276821 semapv:UnspecifiedMatching Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4304398 semapv:UnspecifiedMatching -Orphanet:225 Maternally-inherited diabetes and deafness oboInOwl:hasDbXref MESH:C536246 semapv:UnspecifiedMatching -Orphanet:225 Maternally-inherited diabetes and deafness oboInOwl:hasDbXref MedDRA:10086189 semapv:UnspecifiedMatching -Orphanet:225 Maternally-inherited diabetes and deafness oboInOwl:hasDbXref OMIM:520000 semapv:UnspecifiedMatching -Orphanet:225 Maternally-inherited diabetes and deafness oboInOwl:hasDbXref UMLS:C0342289 semapv:UnspecifiedMatching +Orphanet:225 NON RARE IN EUROPE: Maternally-inherited diabetes and deafness oboInOwl:hasDbXref MESH:C536246 semapv:UnspecifiedMatching +Orphanet:225 NON RARE IN EUROPE: Maternally-inherited diabetes and deafness oboInOwl:hasDbXref MedDRA:10086189 semapv:UnspecifiedMatching +Orphanet:225 NON RARE IN EUROPE: Maternally-inherited diabetes and deafness oboInOwl:hasDbXref OMIM:520000 semapv:UnspecifiedMatching +Orphanet:225 NON RARE IN EUROPE: Maternally-inherited diabetes and deafness oboInOwl:hasDbXref UMLS:C0342289 semapv:UnspecifiedMatching Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome oboInOwl:hasDbXref OMIM:603457 semapv:UnspecifiedMatching @@ -16683,6 +16561,7 @@ Orphanet:225123 TFR2-related hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 sema Orphanet:225123 TFR2-related hemochromatosis oboInOwl:hasDbXref MESH:C537248 semapv:UnspecifiedMatching Orphanet:225123 TFR2-related hemochromatosis oboInOwl:hasDbXref OMIM:604250 semapv:UnspecifiedMatching Orphanet:225123 TFR2-related hemochromatosis oboInOwl:hasDbXref UMLS:C1858664 semapv:UnspecifiedMatching +Orphanet:225123 TFR2-related hemochromatosis oboInOwl:hasDbXref icd11:5C64.10 semapv:UnspecifiedMatching Orphanet:225147 Sporadic infantile bilateral striatal necrosis oboInOwl:hasDbXref ICD10:G23.2 semapv:UnspecifiedMatching Orphanet:225147 Sporadic infantile bilateral striatal necrosis oboInOwl:hasDbXref ICD10:G23.2 semapv:UnspecifiedMatching Orphanet:225147 Sporadic infantile bilateral striatal necrosis oboInOwl:hasDbXref MedDRA:10077451 semapv:UnspecifiedMatching @@ -16877,9 +16756,9 @@ Orphanet:227 Diphallia oboInOwl:hasDbXref icd11:LB5Y semapv:UnspecifiedMatching Orphanet:227053 solute carrier family 52 member 3 oboInOwl:hasDbXref ENSEMBL:ENSG00000101276 semapv:UnspecifiedMatching Orphanet:227053 solute carrier family 52 member 3 oboInOwl:hasDbXref OMIM:613350 semapv:UnspecifiedMatching Orphanet:227053 solute carrier family 52 member 3 oboInOwl:hasDbXref uniprot:Q9NQ40 semapv:UnspecifiedMatching -Orphanet:227058 FLVCR heme transporter 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000119686 semapv:UnspecifiedMatching -Orphanet:227058 FLVCR heme transporter 2 oboInOwl:hasDbXref OMIM:610865 semapv:UnspecifiedMatching -Orphanet:227058 FLVCR heme transporter 2 oboInOwl:hasDbXref uniprot:Q9UPI3 semapv:UnspecifiedMatching +Orphanet:227058 FLVCR choline and putative heme transporter 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000119686 semapv:UnspecifiedMatching +Orphanet:227058 FLVCR choline and putative heme transporter 2 oboInOwl:hasDbXref OMIM:610865 semapv:UnspecifiedMatching +Orphanet:227058 FLVCR choline and putative heme transporter 2 oboInOwl:hasDbXref uniprot:Q9UPI3 semapv:UnspecifiedMatching Orphanet:227063 parathyroid hormone like hormone oboInOwl:hasDbXref ENSEMBL:ENSG00000087494 semapv:UnspecifiedMatching Orphanet:227063 parathyroid hormone like hormone oboInOwl:hasDbXref OMIM:168470 semapv:UnspecifiedMatching Orphanet:227063 parathyroid hormone like hormone oboInOwl:hasDbXref uniprot:P12272 semapv:UnspecifiedMatching @@ -16910,9 +16789,13 @@ Orphanet:2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome oboInOwl: Orphanet:227102 syntaxin binding protein 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000076944 semapv:UnspecifiedMatching Orphanet:227102 syntaxin binding protein 2 oboInOwl:hasDbXref OMIM:601717 semapv:UnspecifiedMatching Orphanet:227102 syntaxin binding protein 2 oboInOwl:hasDbXref uniprot:Q15833 semapv:UnspecifiedMatching +Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome oboInOwl:hasDbXref OMIM:258840 semapv:UnspecifiedMatching Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome oboInOwl:hasDbXref UMLS:C4518538 semapv:UnspecifiedMatching Orphanet:2272 Ichthyosis-oral and digital anomalies syndrome oboInOwl:hasDbXref icd11:LD27.2 semapv:UnspecifiedMatching +Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching +Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome oboInOwl:hasDbXref MESH:C536085 semapv:UnspecifiedMatching Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome oboInOwl:hasDbXref OMIM:308205 semapv:UnspecifiedMatching Orphanet:2273 Ichthyosis follicularis-alopecia-photophobia syndrome oboInOwl:hasDbXref OMIM:619016 semapv:UnspecifiedMatching @@ -16971,6 +16854,8 @@ Orphanet:227796 Fundus albipunctatus oboInOwl:hasDbXref MESH:C562733 semapv:Unsp Orphanet:227796 Fundus albipunctatus oboInOwl:hasDbXref OMIM:136880 semapv:UnspecifiedMatching Orphanet:227796 Fundus albipunctatus oboInOwl:hasDbXref UMLS:C0311338 semapv:UnspecifiedMatching Orphanet:227796 Fundus albipunctatus oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching +Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome oboInOwl:hasDbXref MESH:C536274 semapv:UnspecifiedMatching Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome oboInOwl:hasDbXref OMIM:242530 semapv:UnspecifiedMatching Orphanet:2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome oboInOwl:hasDbXref UMLS:C4518580 semapv:UnspecifiedMatching @@ -16992,6 +16877,7 @@ Orphanet:227990 Autoimmune polyendocrinopathy type 4 oboInOwl:hasDbXref UMLS:C32 Orphanet:227990 Autoimmune polyendocrinopathy type 4 oboInOwl:hasDbXref icd11:5B00 semapv:UnspecifiedMatching Orphanet:228000 Idiopathic CD4 lymphocytopenia oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching Orphanet:228000 Idiopathic CD4 lymphocytopenia oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching +Orphanet:228000 Idiopathic CD4 lymphocytopenia oboInOwl:hasDbXref MedDRA:10083934 semapv:UnspecifiedMatching Orphanet:228000 Idiopathic CD4 lymphocytopenia oboInOwl:hasDbXref OMIM:615518 semapv:UnspecifiedMatching Orphanet:228000 Idiopathic CD4 lymphocytopenia oboInOwl:hasDbXref UMLS:C4706550 semapv:UnspecifiedMatching Orphanet:228000 Idiopathic CD4 lymphocytopenia oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching @@ -17123,6 +17009,7 @@ Orphanet:228272 Primary anetoderma oboInOwl:hasDbXref icd11:EE41.1 semapv:Unspec Orphanet:228277 Familial anetoderma oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatching Orphanet:228277 Familial anetoderma oboInOwl:hasDbXref ICD10:L90.8 semapv:UnspecifiedMatching Orphanet:228277 Familial anetoderma oboInOwl:hasDbXref UMLS:C4518793 semapv:UnspecifiedMatching +Orphanet:228277 Familial anetoderma oboInOwl:hasDbXref icd11:EE41.1 semapv:UnspecifiedMatching Orphanet:228285 Acquired cutis laxa oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:228285 Acquired cutis laxa oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:228285 Acquired cutis laxa oboInOwl:hasDbXref UMLS:C0406549 semapv:UnspecifiedMatching @@ -17137,6 +17024,7 @@ Orphanet:228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis oboIn Orphanet:228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis oboInOwl:hasDbXref icd11:EE41.Y semapv:UnspecifiedMatching Orphanet:228299 Mid-dermal elastolysis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:228299 Mid-dermal elastolysis oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching +Orphanet:228299 Mid-dermal elastolysis oboInOwl:hasDbXref MedDRA:10081688 semapv:UnspecifiedMatching Orphanet:228299 Mid-dermal elastolysis oboInOwl:hasDbXref UMLS:C4728147 semapv:UnspecifiedMatching Orphanet:228299 Mid-dermal elastolysis oboInOwl:hasDbXref icd11:EE41.Y semapv:UnspecifiedMatching Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching @@ -17198,28 +17086,24 @@ Orphanet:228402 2q23.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 sem Orphanet:228402 2q23.1 microdeletion syndrome oboInOwl:hasDbXref OMIM:156200 semapv:UnspecifiedMatching Orphanet:228402 2q23.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304532 semapv:UnspecifiedMatching Orphanet:228402 2q23.1 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.20 semapv:UnspecifiedMatching -Orphanet:228407 Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:228407 Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:228407 Craniofacial dysmorphism-skeletal anomalies-intellectual disability syndrome oboInOwl:hasDbXref OMIM:213980 semapv:UnspecifiedMatching -Orphanet:228410 Polyvalvular heart disease syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:228410 Polyvalvular heart disease syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:228410 Polyvalvular heart disease syndrome oboInOwl:hasDbXref UMLS:C4509918 semapv:UnspecifiedMatching +Orphanet:228410 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:228410 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:228410 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4509918 semapv:UnspecifiedMatching Orphanet:228415 5q35 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:228415 5q35 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:228415 5q35 microduplication syndrome oboInOwl:hasDbXref UMLS:C4304526 semapv:UnspecifiedMatching Orphanet:228415 5q35 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.40 semapv:UnspecifiedMatching -Orphanet:228423 Monocytopenia with susceptibility to infections oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching -Orphanet:228423 Monocytopenia with susceptibility to infections oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching -Orphanet:228423 Monocytopenia with susceptibility to infections oboInOwl:hasDbXref OMIM:614172 semapv:UnspecifiedMatching -Orphanet:228423 Monocytopenia with susceptibility to infections oboInOwl:hasDbXref UMLS:C3280030 semapv:UnspecifiedMatching -Orphanet:228423 Monocytopenia with susceptibility to infections oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching +Orphanet:228423 GATA2 deficiency spectrum oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching +Orphanet:228423 GATA2 deficiency spectrum oboInOwl:hasDbXref ICD10:D72.8 semapv:UnspecifiedMatching +Orphanet:228423 GATA2 deficiency spectrum oboInOwl:hasDbXref OMIM:614172 semapv:UnspecifiedMatching +Orphanet:228423 GATA2 deficiency spectrum oboInOwl:hasDbXref UMLS:C3280030 semapv:UnspecifiedMatching +Orphanet:228423 GATA2 deficiency spectrum oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency oboInOwl:hasDbXref OMIM:613385 semapv:UnspecifiedMatching Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency oboInOwl:hasDbXref UMLS:C4755273 semapv:UnspecifiedMatching Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency oboInOwl:hasDbXref icd11:4A43.Y semapv:UnspecifiedMatching -Orphanet:228429 Generalized congenital lipodystrophy with myopathy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching -Orphanet:228429 Generalized congenital lipodystrophy with myopathy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:228429 Generalized congenital lipodystrophy with myopathy oboInOwl:hasDbXref OMIM:613327 semapv:UnspecifiedMatching Orphanet:228429 Generalized congenital lipodystrophy with myopathy oboInOwl:hasDbXref UMLS:C2750069 semapv:UnspecifiedMatching Orphanet:2285 Primary basilar invagination oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching @@ -17234,6 +17118,7 @@ Orphanet:2287 Fused mandibular incisors oboInOwl:hasDbXref icd11:LA30.4 semapv:U Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref MESH:C537395 semapv:UnspecifiedMatching +Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref MedDRA:10084235 semapv:UnspecifiedMatching Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref OMIM:603472 semapv:UnspecifiedMatching Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref UMLS:C1863843 semapv:UnspecifiedMatching Orphanet:2289 Neuronal intranuclear inclusion disease oboInOwl:hasDbXref icd11:8A0Y semapv:UnspecifiedMatching @@ -17369,8 +17254,6 @@ Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref OMIM:606408 semapv:UnspecifiedMatching Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref UMLS:C1848029 semapv:UnspecifiedMatching Orphanet:230839 Classical-like Ehlers-Danlos syndrome type 1 oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching -Orphanet:230845 Vascular-like classical Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -Orphanet:230845 Vascular-like classical Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:230851 Cardiac-valvular Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:225320 semapv:UnspecifiedMatching @@ -17402,7 +17285,7 @@ Orphanet:231 Dracunculiasis oboInOwl:hasDbXref icd11:1F64 semapv:UnspecifiedMatc Orphanet:2310 Absence deformity of leg-cataract syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2310 Absence deformity of leg-cataract syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2310 Absence deformity of leg-cataract syndrome oboInOwl:hasDbXref OMIM:246000 semapv:UnspecifiedMatching -Orphanet:2310 Absence deformity of leg-cataract syndrome oboInOwl:hasDbXref UMLS:C5680711 semapv:UnspecifiedMatching +Orphanet:2310 Absence deformity of leg-cataract syndrome oboInOwl:hasDbXref UMLS:C4274843 semapv:UnspecifiedMatching Orphanet:231013 Congenital trigeminal anesthesia oboInOwl:hasDbXref ICD10:G50.8 semapv:UnspecifiedMatching Orphanet:231013 Congenital trigeminal anesthesia oboInOwl:hasDbXref ICD10:G50.8 semapv:UnspecifiedMatching Orphanet:231013 Congenital trigeminal anesthesia oboInOwl:hasDbXref MESH:C536440 semapv:UnspecifiedMatching @@ -17561,8 +17444,6 @@ Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10: Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome oboInOwl:hasDbXref ICD10:D58.2 semapv:UnspecifiedMatching Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome oboInOwl:hasDbXref UMLS:C0472777 semapv:UnspecifiedMatching Orphanet:231249 Hemoglobin E-beta-thalassemia syndrome oboInOwl:hasDbXref icd11:3A50.2 semapv:UnspecifiedMatching -Orphanet:231256 Beta-thalassemia-trichothiodystrophy syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching -Orphanet:231256 Beta-thalassemia-trichothiodystrophy syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching Orphanet:231386 Beta-thalassemia with other manifestations oboInOwl:hasDbXref UMLS:C5680915 semapv:UnspecifiedMatching Orphanet:231387 Wnt family member 5A oboInOwl:hasDbXref ENSEMBL:ENSG00000114251 semapv:UnspecifiedMatching Orphanet:231387 Wnt family member 5A oboInOwl:hasDbXref OMIM:164975 semapv:UnspecifiedMatching @@ -17649,10 +17530,7 @@ Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasD Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref OMIM:619172 semapv:UnspecifiedMatching Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref UMLS:C5680913 semapv:UnspecifiedMatching Orphanet:231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching -Orphanet:231537 Hermansky-Pudlak syndrome type 8 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -Orphanet:231537 Hermansky-Pudlak syndrome type 8 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:231537 Hermansky-Pudlak syndrome type 8 oboInOwl:hasDbXref OMIM:614077 semapv:UnspecifiedMatching -Orphanet:231537 Hermansky-Pudlak syndrome type 8 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching Orphanet:231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome oboInOwl:hasDbXref OMIM:226440 semapv:UnspecifiedMatching @@ -17678,6 +17556,8 @@ Orphanet:2316 Johnson neuroectodermal syndrome oboInOwl:hasDbXref icd11:LD27.0Y Orphanet:231605 D-amino acid oxidase oboInOwl:hasDbXref ENSEMBL:ENSG00000110887 semapv:UnspecifiedMatching Orphanet:231605 D-amino acid oxidase oboInOwl:hasDbXref OMIM:124050 semapv:UnspecifiedMatching Orphanet:231605 D-amino acid oxidase oboInOwl:hasDbXref uniprot:P14920 semapv:UnspecifiedMatching +Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion oboInOwl:hasDbXref ICD10:C74.0 semapv:UnspecifiedMatching +Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion oboInOwl:hasDbXref ICD10:C74.0 semapv:UnspecifiedMatching Orphanet:231625 Adrenocortical carcinoma with pure aldosterone hypersecretion oboInOwl:hasDbXref UMLS:C5679847 semapv:UnspecifiedMatching Orphanet:231632 Ectopic aldosterone-producing tumor oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching Orphanet:231632 Ectopic aldosterone-producing tumor oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching @@ -17693,7 +17573,6 @@ Orphanet:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref IC Orphanet:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching Orphanet:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref MESH:C567564 semapv:UnspecifiedMatching Orphanet:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref OMIM:612781 semapv:UnspecifiedMatching -Orphanet:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref OMIM:618157 semapv:UnspecifiedMatching Orphanet:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref UMLS:C2748571 semapv:UnspecifiedMatching Orphanet:231671 Isolated growth hormone deficiency type IB oboInOwl:hasDbXref icd11:5A61.3 semapv:UnspecifiedMatching Orphanet:231679 Isolated growth hormone deficiency type II oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching @@ -17747,6 +17626,7 @@ Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref OMIM:603903 semapv:Unspecifie Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref UMLS:C0002895 semapv:UnspecifiedMatching Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref icd11:3A51.1 semapv:UnspecifiedMatching Orphanet:232 Sickle cell anemia oboInOwl:hasDbXref icd11:3A51.2 semapv:UnspecifiedMatching +Orphanet:232035 Infectious embryofetopathy oboInOwl:hasDbXref UMLS:C5439342 semapv:UnspecifiedMatching Orphanet:232035 Infectious embryofetopathy oboInOwl:hasDbXref icd11:LD2F.Y semapv:UnspecifiedMatching Orphanet:2321 Jung syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2321 Jung syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -17932,6 +17812,7 @@ Orphanet:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref OMIM:613702 sema Orphanet:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref UMLS:C0022738 semapv:UnspecifiedMatching Orphanet:2345 Isolated Klippel-Feil syndrome oboInOwl:hasDbXref icd11:LB73.20 semapv:UnspecifiedMatching Orphanet:2346 Angioosteohypertrophic syndrome oboInOwl:hasDbXref MESH:D007715 semapv:UnspecifiedMatching +Orphanet:2346 Angioosteohypertrophic syndrome oboInOwl:hasDbXref MedDRA:10051452 semapv:UnspecifiedMatching Orphanet:2346 Angioosteohypertrophic syndrome oboInOwl:hasDbXref OMIM:149000 semapv:UnspecifiedMatching Orphanet:2346 Angioosteohypertrophic syndrome oboInOwl:hasDbXref OMIM:608354 semapv:UnspecifiedMatching Orphanet:2346 Angioosteohypertrophic syndrome oboInOwl:hasDbXref OMIM:608355 semapv:UnspecifiedMatching @@ -18084,12 +17965,12 @@ Orphanet:2373 Congenital laryngomalacia oboInOwl:hasDbXref MedDRA:10060786 semap Orphanet:2373 Congenital laryngomalacia oboInOwl:hasDbXref OMIM:150280 semapv:UnspecifiedMatching Orphanet:2373 Congenital laryngomalacia oboInOwl:hasDbXref UMLS:C0345160 semapv:UnspecifiedMatching Orphanet:2373 Congenital laryngomalacia oboInOwl:hasDbXref icd11:LA71.0 semapv:UnspecifiedMatching -Orphanet:2374 Congenital laryngeal web oboInOwl:hasDbXref ICD10:Q31.0 semapv:UnspecifiedMatching -Orphanet:2374 Congenital laryngeal web oboInOwl:hasDbXref ICD10:Q31.0 semapv:UnspecifiedMatching -Orphanet:2374 Congenital laryngeal web oboInOwl:hasDbXref MedDRA:10023871 semapv:UnspecifiedMatching -Orphanet:2374 Congenital laryngeal web oboInOwl:hasDbXref OMIM:150360 semapv:UnspecifiedMatching -Orphanet:2374 Congenital laryngeal web oboInOwl:hasDbXref UMLS:C0152416 semapv:UnspecifiedMatching -Orphanet:2374 Congenital laryngeal web oboInOwl:hasDbXref icd11:LA71.Y semapv:UnspecifiedMatching +Orphanet:2374 Isolated congenital laryngeal web oboInOwl:hasDbXref ICD10:Q31.0 semapv:UnspecifiedMatching +Orphanet:2374 Isolated congenital laryngeal web oboInOwl:hasDbXref ICD10:Q31.0 semapv:UnspecifiedMatching +Orphanet:2374 Isolated congenital laryngeal web oboInOwl:hasDbXref MedDRA:10023871 semapv:UnspecifiedMatching +Orphanet:2374 Isolated congenital laryngeal web oboInOwl:hasDbXref OMIM:150360 semapv:UnspecifiedMatching +Orphanet:2374 Isolated congenital laryngeal web oboInOwl:hasDbXref UMLS:C0152416 semapv:UnspecifiedMatching +Orphanet:2374 Isolated congenital laryngeal web oboInOwl:hasDbXref icd11:LA71.Y semapv:UnspecifiedMatching Orphanet:237462 T-box transcription factor 20 oboInOwl:hasDbXref ENSEMBL:ENSG00000164532 semapv:UnspecifiedMatching Orphanet:237462 T-box transcription factor 20 oboInOwl:hasDbXref OMIM:606061 semapv:UnspecifiedMatching Orphanet:237462 T-box transcription factor 20 oboInOwl:hasDbXref uniprot:Q9UMR3 semapv:UnspecifiedMatching @@ -18119,15 +18000,13 @@ Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome oboInOwl Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome oboInOwl:hasDbXref OMIM:311510 semapv:UnspecifiedMatching Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0796195 semapv:UnspecifiedMatching Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome oboInOwl:hasDbXref icd11:LD90.1 semapv:UnspecifiedMatching -Orphanet:238 Digestive duplication oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching -Orphanet:238 Digestive duplication oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching -Orphanet:238 Digestive duplication oboInOwl:hasDbXref UMLS:C5681230 semapv:UnspecifiedMatching Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref ICD10:M91.1 semapv:UnspecifiedMatching Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref ICD10:M91.1 semapv:UnspecifiedMatching Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref MESH:D007873 semapv:UnspecifiedMatching Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref MedDRA:10034735 semapv:UnspecifiedMatching Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref OMIM:150600 semapv:UnspecifiedMatching Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref UMLS:C0023234 semapv:UnspecifiedMatching +Orphanet:2380 Legg-Calvé-Perthes disease oboInOwl:hasDbXref icd11:FB82.1 semapv:UnspecifiedMatching Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:2382 Lennox-Gastaut syndrome oboInOwl:hasDbXref MESH:D065768 semapv:UnspecifiedMatching @@ -18152,6 +18031,7 @@ Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy oboInOwl:hasDbXr Orphanet:238329 Severe X-linked mitochondrial encephalomyopathy oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching Orphanet:238446 15q11q13 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:238446 15q11q13 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:238446 15q11q13 microduplication syndrome oboInOwl:hasDbXref MESH:C557830 semapv:UnspecifiedMatching Orphanet:238446 15q11q13 microduplication syndrome oboInOwl:hasDbXref OMIM:608636 semapv:UnspecifiedMatching Orphanet:238446 15q11q13 microduplication syndrome oboInOwl:hasDbXref UMLS:C4304726 semapv:UnspecifiedMatching Orphanet:238446 15q11q13 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.E semapv:UnspecifiedMatching @@ -18187,7 +18067,6 @@ Orphanet:238505 Combined immunodeficiency due to CD27 deficiency oboInOwl:hasDbX Orphanet:238505 Combined immunodeficiency due to CD27 deficiency oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching Orphanet:238505 Combined immunodeficiency due to CD27 deficiency oboInOwl:hasDbXref OMIM:615122 semapv:UnspecifiedMatching Orphanet:238505 Combined immunodeficiency due to CD27 deficiency oboInOwl:hasDbXref UMLS:C3554540 semapv:UnspecifiedMatching -Orphanet:238510 Lymphoproliferative syndrome oboInOwl:hasDbXref UMLS:C0024314 semapv:UnspecifiedMatching Orphanet:238517 Hypotonia-cystinuria type 1 syndrome oboInOwl:hasDbXref UMLS:C5680931 semapv:UnspecifiedMatching Orphanet:238517 Hypotonia-cystinuria type 1 syndrome oboInOwl:hasDbXref icd11:GB90.40 semapv:UnspecifiedMatching Orphanet:238523 Atypical hypotonia-cystinuria syndrome oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching @@ -18238,18 +18117,13 @@ Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation oboInOwl:hasDbX Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation oboInOwl:hasDbXref OMIM:130650 semapv:UnspecifiedMatching Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation oboInOwl:hasDbXref UMLS:C5680933 semapv:UnspecifiedMatching Orphanet:238613 Beckwith-Wiedemann syndrome due to NSD1 mutation oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching -Orphanet:238616 NON RARE IN EUROPE: Alzheimer disease oboInOwl:hasDbXref ICD10:G30.0 semapv:UnspecifiedMatching -Orphanet:238616 NON RARE IN EUROPE: Alzheimer disease oboInOwl:hasDbXref ICD10:G30.0 semapv:UnspecifiedMatching -Orphanet:238616 NON RARE IN EUROPE: Alzheimer disease oboInOwl:hasDbXref ICD10:G30.1 semapv:UnspecifiedMatching -Orphanet:238616 NON RARE IN EUROPE: Alzheimer disease oboInOwl:hasDbXref ICD10:G30.1 semapv:UnspecifiedMatching -Orphanet:238616 NON RARE IN EUROPE: Alzheimer disease oboInOwl:hasDbXref ICD10:G30.8 semapv:UnspecifiedMatching -Orphanet:238616 NON RARE IN EUROPE: Alzheimer disease oboInOwl:hasDbXref ICD10:G30.8 semapv:UnspecifiedMatching Orphanet:238621 Ileal pouch anal anastomosis related faecal incontinence oboInOwl:hasDbXref ICD10:K91.8 semapv:UnspecifiedMatching Orphanet:238621 Ileal pouch anal anastomosis related faecal incontinence oboInOwl:hasDbXref ICD10:K91.8 semapv:UnspecifiedMatching Orphanet:238621 Ileal pouch anal anastomosis related faecal incontinence oboInOwl:hasDbXref UMLS:C5680932 semapv:UnspecifiedMatching Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref ICD10:G93.2 semapv:UnspecifiedMatching Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref ICD10:G93.2 semapv:UnspecifiedMatching Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref MESH:D011559 semapv:UnspecifiedMatching +Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref MedDRA:10078904 semapv:UnspecifiedMatching Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref OMIM:243200 semapv:UnspecifiedMatching Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref UMLS:C0033845 semapv:UnspecifiedMatching Orphanet:238624 Idiopathic intracranial hypertension oboInOwl:hasDbXref icd11:8D60.Y semapv:UnspecifiedMatching @@ -18317,8 +18191,6 @@ Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocorn Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea oboInOwl:hasDbXref OMIM:251750 semapv:UnspecifiedMatching Orphanet:238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea oboInOwl:hasDbXref UMLS:C5190883 semapv:UnspecifiedMatching -Orphanet:238766 Ptosis-syndactyly-learning difficulties syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -Orphanet:238766 Ptosis-syndactyly-learning difficulties syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:238769 1q44 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:238769 1q44 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:238769 1q44 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304540 semapv:UnspecifiedMatching @@ -18459,10 +18331,11 @@ Orphanet:240071 Classic progressive supranuclear palsy syndrome oboInOwl:hasDbXr Orphanet:240071 Classic progressive supranuclear palsy syndrome oboInOwl:hasDbXref OMIM:609454 semapv:UnspecifiedMatching Orphanet:240071 Classic progressive supranuclear palsy syndrome oboInOwl:hasDbXref OMIM:610898 semapv:UnspecifiedMatching Orphanet:240071 Classic progressive supranuclear palsy syndrome oboInOwl:hasDbXref icd11:8A00.10 semapv:UnspecifiedMatching -Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching -Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching -Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome oboInOwl:hasDbXref OMIM:260540 semapv:UnspecifiedMatching -Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome oboInOwl:hasDbXref icd11:8A00.10 semapv:UnspecifiedMatching +Orphanet:240085 Progressive supranuclear palsy-predominant parkinsonism syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching +Orphanet:240085 Progressive supranuclear palsy-predominant parkinsonism syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching +Orphanet:240085 Progressive supranuclear palsy-predominant parkinsonism syndrome oboInOwl:hasDbXref OMIM:260540 semapv:UnspecifiedMatching +Orphanet:240085 Progressive supranuclear palsy-predominant parkinsonism syndrome oboInOwl:hasDbXref UMLS:C5548370 semapv:UnspecifiedMatching +Orphanet:240085 Progressive supranuclear palsy-predominant parkinsonism syndrome oboInOwl:hasDbXref icd11:8A00.10 semapv:UnspecifiedMatching Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome oboInOwl:hasDbXref OMIM:260540 semapv:UnspecifiedMatching @@ -18471,6 +18344,7 @@ Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome oboInOwl:hasDbXref OMIM:260540 semapv:UnspecifiedMatching +Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome oboInOwl:hasDbXref UMLS:C5548189 semapv:UnspecifiedMatching Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome oboInOwl:hasDbXref icd11:8A00.10 semapv:UnspecifiedMatching Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome oboInOwl:hasDbXref ICD10:G23.1 semapv:UnspecifiedMatching @@ -18659,6 +18533,8 @@ Orphanet:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref UMLS:C1455728 Orphanet:243367 Acute fatty liver of pregnancy oboInOwl:hasDbXref icd11:JA65.0 semapv:UnspecifiedMatching Orphanet:243377 NON RARE IN EUROPE: Diabetes mellitus type 1 oboInOwl:hasDbXref ICD10:E10 semapv:UnspecifiedMatching Orphanet:243377 NON RARE IN EUROPE: Diabetes mellitus type 1 oboInOwl:hasDbXref ICD10:E10 semapv:UnspecifiedMatching +Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching +Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome oboInOwl:hasDbXref ICD10:L81.8 semapv:UnspecifiedMatching Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome oboInOwl:hasDbXref MESH:C537836 semapv:UnspecifiedMatching Orphanet:2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1835172 semapv:UnspecifiedMatching Orphanet:2437 Czeizel-Losonci syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -18917,21 +18793,21 @@ Orphanet:2464 Marfanoid syndrome, De Silva type oboInOwl:hasDbXref ICD10:Q87.4 s Orphanet:2464 Marfanoid syndrome, De Silva type oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching Orphanet:2464 Marfanoid syndrome, De Silva type oboInOwl:hasDbXref OMIM:223330 semapv:UnspecifiedMatching Orphanet:2464 Marfanoid syndrome, De Silva type oboInOwl:hasDbXref UMLS:C4517371 semapv:UnspecifiedMatching -Orphanet:246552 coiled-coil domain containing 39 oboInOwl:hasDbXref ENSEMBL:ENSG00000284862 semapv:UnspecifiedMatching -Orphanet:246552 coiled-coil domain containing 39 oboInOwl:hasDbXref OMIM:613798 semapv:UnspecifiedMatching -Orphanet:246552 coiled-coil domain containing 39 oboInOwl:hasDbXref uniprot:Q9UFE4 semapv:UnspecifiedMatching -Orphanet:246554 coiled-coil domain containing 40 oboInOwl:hasDbXref ENSEMBL:ENSG00000141519 semapv:UnspecifiedMatching -Orphanet:246554 coiled-coil domain containing 40 oboInOwl:hasDbXref OMIM:613799 semapv:UnspecifiedMatching -Orphanet:246554 coiled-coil domain containing 40 oboInOwl:hasDbXref uniprot:Q4G0X9 semapv:UnspecifiedMatching +Orphanet:246552 coiled-coil domain 39 molecular ruler complex subunit oboInOwl:hasDbXref ENSEMBL:ENSG00000284862 semapv:UnspecifiedMatching +Orphanet:246552 coiled-coil domain 39 molecular ruler complex subunit oboInOwl:hasDbXref OMIM:613798 semapv:UnspecifiedMatching +Orphanet:246552 coiled-coil domain 39 molecular ruler complex subunit oboInOwl:hasDbXref uniprot:Q9UFE4 semapv:UnspecifiedMatching +Orphanet:246554 coiled-coil domain 40 molecular ruler complex subunit oboInOwl:hasDbXref ENSEMBL:ENSG00000141519 semapv:UnspecifiedMatching +Orphanet:246554 coiled-coil domain 40 molecular ruler complex subunit oboInOwl:hasDbXref OMIM:613799 semapv:UnspecifiedMatching +Orphanet:246554 coiled-coil domain 40 molecular ruler complex subunit oboInOwl:hasDbXref uniprot:Q4G0X9 semapv:UnspecifiedMatching Orphanet:2466 MASA syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:2466 MASA syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:2466 MASA syndrome oboInOwl:hasDbXref MESH:C536029 semapv:UnspecifiedMatching Orphanet:2466 MASA syndrome oboInOwl:hasDbXref OMIM:303350 semapv:UnspecifiedMatching Orphanet:2466 MASA syndrome oboInOwl:hasDbXref UMLS:C0795953 semapv:UnspecifiedMatching Orphanet:2466 MASA syndrome oboInOwl:hasDbXref icd11:8B44.02 semapv:UnspecifiedMatching -Orphanet:246647 FLVCR heme transporter 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000162769 semapv:UnspecifiedMatching -Orphanet:246647 FLVCR heme transporter 1 oboInOwl:hasDbXref OMIM:609144 semapv:UnspecifiedMatching -Orphanet:246647 FLVCR heme transporter 1 oboInOwl:hasDbXref uniprot:Q9Y5Y0 semapv:UnspecifiedMatching +Orphanet:246647 FLVCR choline and heme transporter 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000162769 semapv:UnspecifiedMatching +Orphanet:246647 FLVCR choline and heme transporter 1 oboInOwl:hasDbXref OMIM:609144 semapv:UnspecifiedMatching +Orphanet:246647 FLVCR choline and heme transporter 1 oboInOwl:hasDbXref uniprot:Q9Y5Y0 semapv:UnspecifiedMatching Orphanet:246653 myosin light chain kinase oboInOwl:hasDbXref ENSEMBL:ENSG00000065534 semapv:UnspecifiedMatching Orphanet:246653 myosin light chain kinase oboInOwl:hasDbXref OMIM:600922 semapv:UnspecifiedMatching Orphanet:246653 myosin light chain kinase oboInOwl:hasDbXref uniprot:Q15746 semapv:UnspecifiedMatching @@ -18979,7 +18855,7 @@ Orphanet:247165 Infantile mercury poisoning oboInOwl:hasDbXref UMLS:C4553710 sem Orphanet:247198 Progressive cerebello-cerebral atrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:247198 Progressive cerebello-cerebral atrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:247198 Progressive cerebello-cerebral atrophy oboInOwl:hasDbXref OMIM:615851 semapv:UnspecifiedMatching -Orphanet:247198 Progressive cerebello-cerebral atrophy oboInOwl:hasDbXref UMLS:C4014488 semapv:UnspecifiedMatching +Orphanet:247198 Progressive cerebello-cerebral atrophy oboInOwl:hasDbXref UMLS:C3151140 semapv:UnspecifiedMatching Orphanet:247203 Collecting duct carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching Orphanet:247203 Collecting duct carcinoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching Orphanet:247203 Collecting duct carcinoma oboInOwl:hasDbXref UMLS:C1266044 semapv:UnspecifiedMatching @@ -18992,8 +18868,10 @@ Orphanet:247242 Acquired ataxia oboInOwl:hasDbXref UMLS:C4302112 semapv:Unspecif Orphanet:247242 Acquired ataxia oboInOwl:hasDbXref icd11:8A03.3 semapv:UnspecifiedMatching Orphanet:247245 Superficial siderosis oboInOwl:hasDbXref ICD10:I69.0 semapv:UnspecifiedMatching Orphanet:247245 Superficial siderosis oboInOwl:hasDbXref ICD10:I69.0 semapv:UnspecifiedMatching +Orphanet:247245 Superficial siderosis oboInOwl:hasDbXref MedDRA:10070564 semapv:UnspecifiedMatching Orphanet:247257 Inhalational anthrax oboInOwl:hasDbXref ICD10:A22.1 semapv:UnspecifiedMatching Orphanet:247257 Inhalational anthrax oboInOwl:hasDbXref ICD10:A22.1 semapv:UnspecifiedMatching +Orphanet:247257 Inhalational anthrax oboInOwl:hasDbXref MESH:C571912 semapv:UnspecifiedMatching Orphanet:247257 Inhalational anthrax oboInOwl:hasDbXref MedDRA:10035667 semapv:UnspecifiedMatching Orphanet:247257 Inhalational anthrax oboInOwl:hasDbXref UMLS:C0155866 semapv:UnspecifiedMatching Orphanet:247257 Inhalational anthrax oboInOwl:hasDbXref icd11:1B97 semapv:UnspecifiedMatching @@ -19141,6 +19019,7 @@ Orphanet:247724 Idiopathic eosinophilic myositis oboInOwl:hasDbXref UMLS:C475530 Orphanet:247762 Lipoblastoma oboInOwl:hasDbXref ICD10:D17.9 semapv:UnspecifiedMatching Orphanet:247762 Lipoblastoma oboInOwl:hasDbXref ICD10:D17.9 semapv:UnspecifiedMatching Orphanet:247762 Lipoblastoma oboInOwl:hasDbXref MESH:D062689 semapv:UnspecifiedMatching +Orphanet:247762 Lipoblastoma oboInOwl:hasDbXref MedDRA:10074547 semapv:UnspecifiedMatching Orphanet:247762 Lipoblastoma oboInOwl:hasDbXref UMLS:C1260965 semapv:UnspecifiedMatching Orphanet:247762 Lipoblastoma oboInOwl:hasDbXref icd11:2E80.1 semapv:UnspecifiedMatching Orphanet:247768 Müllerian aplasia and hyperandrogenism oboInOwl:hasDbXref ICD10:Q51.8 semapv:UnspecifiedMatching @@ -19186,11 +19065,11 @@ Orphanet:247815 Autosomal recessive ataxia due to PEX10 deficiency oboInOwl:hasD Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome oboInOwl:hasDbXref OMIM:613573 semapv:UnspecifiedMatching -Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome oboInOwl:hasDbXref UMLS:C3150807 semapv:UnspecifiedMatching +Orphanet:247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome oboInOwl:hasDbXref UMLS:C4749852 semapv:UnspecifiedMatching Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome oboInOwl:hasDbXref OMIM:613576 semapv:UnspecifiedMatching -Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome oboInOwl:hasDbXref UMLS:C3150809 semapv:UnspecifiedMatching +Orphanet:247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome oboInOwl:hasDbXref UMLS:C5816683 semapv:UnspecifiedMatching Orphanet:247834 Occult macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:247834 Occult macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:247834 Occult macular dystrophy oboInOwl:hasDbXref OMIM:613587 semapv:UnspecifiedMatching @@ -19258,7 +19137,7 @@ Orphanet:248326 Rare hemorrhagic disorder due to a platelet anomaly oboInOwl:has Orphanet:248340 Isolated delta-storage pool disease oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching Orphanet:248340 Isolated delta-storage pool disease oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching Orphanet:248340 Isolated delta-storage pool disease oboInOwl:hasDbXref OMIM:617443 semapv:UnspecifiedMatching -Orphanet:248340 Isolated delta-storage pool disease oboInOwl:hasDbXref UMLS:C5679623 semapv:UnspecifiedMatching +Orphanet:248340 Isolated delta-storage pool disease oboInOwl:hasDbXref UMLS:C0032197 semapv:UnspecifiedMatching Orphanet:248340 Isolated delta-storage pool disease oboInOwl:hasDbXref icd11:3B62.3 semapv:UnspecifiedMatching Orphanet:248347 Rare hemorrhagic disorder due to an acquired platelet anomaly oboInOwl:hasDbXref UMLS:C5679622 semapv:UnspecifiedMatching Orphanet:248358 Rare thrombotic disorder due to a coagulation factors defect oboInOwl:hasDbXref UMLS:C5680692 semapv:UnspecifiedMatching @@ -19276,7 +19155,7 @@ Orphanet:248404 Rare thrombotic disorder due to an acquired platelet anomaly obo Orphanet:248408 Familial hypodysfibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching Orphanet:248408 Familial hypodysfibrinogenemia oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching Orphanet:248408 Familial hypodysfibrinogenemia oboInOwl:hasDbXref OMIM:616004 semapv:UnspecifiedMatching -Orphanet:248408 Familial hypodysfibrinogenemia oboInOwl:hasDbXref UMLS:C5680690 semapv:UnspecifiedMatching +Orphanet:248408 Familial hypodysfibrinogenemia oboInOwl:hasDbXref UMLS:C0472803 semapv:UnspecifiedMatching Orphanet:248408 Familial hypodysfibrinogenemia oboInOwl:hasDbXref icd11:3B14.0 semapv:UnspecifiedMatching Orphanet:248481 histone deacetylase 6 oboInOwl:hasDbXref ENSEMBL:ENSG00000094631 semapv:UnspecifiedMatching Orphanet:248481 histone deacetylase 6 oboInOwl:hasDbXref OMIM:300272 semapv:UnspecifiedMatching @@ -19308,7 +19187,7 @@ Orphanet:249 Fibrous dysplasia of bone oboInOwl:hasDbXref icd11:FB80.0 semapv:Un Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome oboInOwl:hasDbXref OMIM:146160 semapv:UnspecifiedMatching -Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome oboInOwl:hasDbXref UMLS:C5680722 semapv:UnspecifiedMatching +Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome oboInOwl:hasDbXref UMLS:C4274837 semapv:UnspecifiedMatching Orphanet:2491 Müllerian duct anomalies-limb anomalies syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:2492 FATCO syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2492 FATCO syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching @@ -19333,11 +19212,12 @@ Orphanet:2496 Mesomelia-synostoses syndrome oboInOwl:hasDbXref MESH:C537348 sema Orphanet:2496 Mesomelia-synostoses syndrome oboInOwl:hasDbXref OMIM:600383 semapv:UnspecifiedMatching Orphanet:2496 Mesomelia-synostoses syndrome oboInOwl:hasDbXref UMLS:C1838162 semapv:UnspecifiedMatching Orphanet:2496 Mesomelia-synostoses syndrome oboInOwl:hasDbXref icd11:LD24.9 semapv:UnspecifiedMatching -Orphanet:2497 Upper limb mesomelic dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -Orphanet:2497 Upper limb mesomelic dysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -Orphanet:2497 Upper limb mesomelic dysplasia oboInOwl:hasDbXref OMIM:191440 semapv:UnspecifiedMatching -Orphanet:2497 Upper limb mesomelic dysplasia oboInOwl:hasDbXref UMLS:C5574958 semapv:UnspecifiedMatching -Orphanet:2497 Upper limb mesomelic dysplasia oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching +Orphanet:2497 Upper limb mesomelic dysplasia, type Fryns oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:2497 Upper limb mesomelic dysplasia, type Fryns oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching +Orphanet:2497 Upper limb mesomelic dysplasia, type Fryns oboInOwl:hasDbXref MESH:C538069 semapv:UnspecifiedMatching +Orphanet:2497 Upper limb mesomelic dysplasia, type Fryns oboInOwl:hasDbXref OMIM:191440 semapv:UnspecifiedMatching +Orphanet:2497 Upper limb mesomelic dysplasia, type Fryns oboInOwl:hasDbXref UMLS:C5574958 semapv:UnspecifiedMatching +Orphanet:2497 Upper limb mesomelic dysplasia, type Fryns oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching Orphanet:2498 Syndactyly type 8 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching Orphanet:2498 Syndactyly type 8 oboInOwl:hasDbXref ICD10:Q70.0 semapv:UnspecifiedMatching Orphanet:2498 Syndactyly type 8 oboInOwl:hasDbXref MESH:C564100 semapv:UnspecifiedMatching @@ -19392,7 +19272,7 @@ Orphanet:2502 Metaphyseal dysostosis-intellectual disability-conductive deafness Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref OMIM:156510 semapv:UnspecifiedMatching -Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref UMLS:C5680723 semapv:UnspecifiedMatching +Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref UMLS:C4510380 semapv:UnspecifiedMatching Orphanet:2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome oboInOwl:hasDbXref icd11:LD24.7 semapv:UnspecifiedMatching Orphanet:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:2505 Multiple benign circumferential skin creases on limbs oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching @@ -19420,7 +19300,7 @@ Orphanet:250923 Isolated aniridia oboInOwl:hasDbXref ICD10:Q13.1 semapv:Unspecif Orphanet:250923 Isolated aniridia oboInOwl:hasDbXref OMIM:106210 semapv:UnspecifiedMatching Orphanet:250923 Isolated aniridia oboInOwl:hasDbXref OMIM:617141 semapv:UnspecifiedMatching Orphanet:250923 Isolated aniridia oboInOwl:hasDbXref OMIM:617142 semapv:UnspecifiedMatching -Orphanet:250923 Isolated aniridia oboInOwl:hasDbXref UMLS:C5680707 semapv:UnspecifiedMatching +Orphanet:250923 Isolated aniridia oboInOwl:hasDbXref UMLS:C0003076 semapv:UnspecifiedMatching Orphanet:250923 Isolated aniridia oboInOwl:hasDbXref icd11:LA11.3 semapv:UnspecifiedMatching Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching Orphanet:250932 Autosomal dominant optic atrophy and peripheral neuropathy oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching @@ -19497,15 +19377,16 @@ Orphanet:251038 3q29 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.20 Orphanet:251043 Ring chromosome 5 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:251043 Ring chromosome 5 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:251043 Ring chromosome 5 syndrome oboInOwl:hasDbXref UMLS:C4707450 semapv:UnspecifiedMatching +Orphanet:251043 Ring chromosome 5 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:251046 6p22 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:251046 6p22 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:251046 6p22 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304528 semapv:UnspecifiedMatching Orphanet:251046 6p22 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.61 semapv:UnspecifiedMatching -Orphanet:251056 6q25 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -Orphanet:251056 6q25 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -Orphanet:251056 6q25 microdeletion syndrome oboInOwl:hasDbXref OMIM:612863 semapv:UnspecifiedMatching -Orphanet:251056 6q25 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304527 semapv:UnspecifiedMatching -Orphanet:251056 6q25 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.60 semapv:UnspecifiedMatching +Orphanet:251056 6q25.2q25.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:251056 6q25.2q25.3 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:251056 6q25.2q25.3 microdeletion syndrome oboInOwl:hasDbXref OMIM:612863 semapv:UnspecifiedMatching +Orphanet:251056 6q25.2q25.3 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4304527 semapv:UnspecifiedMatching +Orphanet:251056 6q25.2q25.3 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.60 semapv:UnspecifiedMatching Orphanet:251061 7q31 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:251061 7q31 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:251061 7q31 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4750783 semapv:UnspecifiedMatching @@ -19560,7 +19441,6 @@ Orphanet:2512 Autosomal recessive primary microcephaly oboInOwl:hasDbXref icd11: Orphanet:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref ICD10:M93.2 semapv:UnspecifiedMatching Orphanet:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref ICD10:M93.2 semapv:UnspecifiedMatching Orphanet:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref MESH:C580095 semapv:UnspecifiedMatching -Orphanet:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref OMIM:165800 semapv:UnspecifiedMatching Orphanet:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref UMLS:C3665488 semapv:UnspecifiedMatching Orphanet:251262 Familial osteochondritis dissecans oboInOwl:hasDbXref icd11:FB82.1 semapv:UnspecifiedMatching Orphanet:251270 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase oboInOwl:hasDbXref ENSEMBL:ENSG00000109618 semapv:UnspecifiedMatching @@ -19614,7 +19494,7 @@ Orphanet:251312 Overlapping connective tissue disease oboInOwl:hasDbXref ICD10:M Orphanet:251312 Overlapping connective tissue disease oboInOwl:hasDbXref UMLS:C1858556 semapv:UnspecifiedMatching Orphanet:251325 Drug-induced vasculitis oboInOwl:hasDbXref ICD10:M31.8 semapv:UnspecifiedMatching Orphanet:251325 Drug-induced vasculitis oboInOwl:hasDbXref ICD10:M31.8 semapv:UnspecifiedMatching -Orphanet:251325 Drug-induced vasculitis oboInOwl:hasDbXref UMLS:C5680713 semapv:UnspecifiedMatching +Orphanet:251325 Drug-induced vasculitis oboInOwl:hasDbXref UMLS:C0340672 semapv:UnspecifiedMatching Orphanet:251325 Drug-induced vasculitis oboInOwl:hasDbXref icd11:4A85.03 semapv:UnspecifiedMatching Orphanet:251328 Unclassified vasculitis oboInOwl:hasDbXref ICD10:I77.6 semapv:UnspecifiedMatching Orphanet:251328 Unclassified vasculitis oboInOwl:hasDbXref ICD10:I77.6 semapv:UnspecifiedMatching @@ -19632,7 +19512,7 @@ Orphanet:251355 Sickle cell disease associated with another hemoglobin anomaly o Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref MedDRA:10040655 semapv:UnspecifiedMatching -Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref UMLS:C5679628 semapv:UnspecifiedMatching +Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref UMLS:C0221019 semapv:UnspecifiedMatching Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref icd11:3A51.3 semapv:UnspecifiedMatching Orphanet:251359 Sickle cell-beta-thalassemia disease syndrome oboInOwl:hasDbXref icd11:3A51.4 semapv:UnspecifiedMatching Orphanet:251365 Sickle cell-hemoglobin C disease syndrome oboInOwl:hasDbXref ICD10:D57.2 semapv:UnspecifiedMatching @@ -19667,7 +19547,8 @@ Orphanet:251383 CK syndrome oboInOwl:hasDbXref UMLS:C3151781 semapv:UnspecifiedM Orphanet:251393 Localized junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching Orphanet:251393 Localized junctional epidermolysis bullosa oboInOwl:hasDbXref ICD10:Q81.8 semapv:UnspecifiedMatching Orphanet:251393 Localized junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:226650 semapv:UnspecifiedMatching -Orphanet:251393 Localized junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS:C0474889 semapv:UnspecifiedMatching +Orphanet:251393 Localized junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS:C5700116 semapv:UnspecifiedMatching +Orphanet:251393 Localized junctional epidermolysis bullosa oboInOwl:hasDbXref icd11:EC31 semapv:UnspecifiedMatching Orphanet:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching Orphanet:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching Orphanet:2514 Autosomal dominant primary microcephaly oboInOwl:hasDbXref MESH:C537323 semapv:UnspecifiedMatching @@ -19706,7 +19587,7 @@ Orphanet:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref ICD10 Orphanet:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref ICD10:E83.2 semapv:UnspecifiedMatching Orphanet:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref MESH:C565988 semapv:UnspecifiedMatching Orphanet:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref OMIM:194470 semapv:UnspecifiedMatching -Orphanet:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref UMLS:C1860229 semapv:UnspecifiedMatching +Orphanet:251523 Hyperzincemia and hypercalprotectinemia oboInOwl:hasDbXref UMLS:C4760957 semapv:UnspecifiedMatching Orphanet:251529 Toxic or drug-related embryofetopathy oboInOwl:hasDbXref UMLS:C5680710 semapv:UnspecifiedMatching Orphanet:251529 Toxic or drug-related embryofetopathy oboInOwl:hasDbXref icd11:LD2F.0 semapv:UnspecifiedMatching Orphanet:251535 Maternal disease-related embryofetopathy oboInOwl:hasDbXref UMLS:C5680708 semapv:UnspecifiedMatching @@ -19797,7 +19678,6 @@ Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref ICD10:C71.9 semapv:Unspecif Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref MESH:D009837 semapv:UnspecifiedMatching Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref MedDRA:10030286 semapv:UnspecifiedMatching Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref OMIM:137800 semapv:UnspecifiedMatching -Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref OMIM:616568 semapv:UnspecifiedMatching Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref UMLS:C0028945 semapv:UnspecifiedMatching Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching Orphanet:251627 Oligodendroglioma oboInOwl:hasDbXref icd11:XH7K31 semapv:UnspecifiedMatching @@ -19806,7 +19686,6 @@ Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref ICD10:C71.9 sema Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref MedDRA:10026659 semapv:UnspecifiedMatching Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref OMIM:137800 semapv:UnspecifiedMatching -Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref OMIM:616568 semapv:UnspecifiedMatching Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref UMLS:C0334590 semapv:UnspecifiedMatching Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching Orphanet:251630 Anaplastic oligodendroglioma oboInOwl:hasDbXref icd11:XH8844 semapv:UnspecifiedMatching @@ -19841,7 +19720,6 @@ Orphanet:251656 Oligoastrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:Unspecifi Orphanet:251656 Oligoastrocytoma oboInOwl:hasDbXref MedDRA:10027744 semapv:UnspecifiedMatching Orphanet:251656 Oligoastrocytoma oboInOwl:hasDbXref UMLS:C0547065 semapv:UnspecifiedMatching Orphanet:251656 Oligoastrocytoma oboInOwl:hasDbXref icd11:2A00.0Y semapv:UnspecifiedMatching -Orphanet:251656 Oligoastrocytoma oboInOwl:hasDbXref icd11:XH6F49 semapv:UnspecifiedMatching Orphanet:251663 Anaplastic oligoastrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251663 Anaplastic oligoastrocytoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251663 Anaplastic oligoastrocytoma oboInOwl:hasDbXref UMLS:C0431108 semapv:UnspecifiedMatching @@ -19875,6 +19753,7 @@ Orphanet:2518 Autosomal recessive chorioretinopathy-microcephaly syndrome oboInO Orphanet:251852 Embryonal tumor of neuroepithelial tissue oboInOwl:hasDbXref UMLS:C5680699 semapv:UnspecifiedMatching Orphanet:251855 Anaplastic/large cell medulloblastoma oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching Orphanet:251855 Anaplastic/large cell medulloblastoma oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching +Orphanet:251855 Anaplastic/large cell medulloblastoma oboInOwl:hasDbXref UMLS:C4330531 semapv:UnspecifiedMatching Orphanet:251855 Anaplastic/large cell medulloblastoma oboInOwl:hasDbXref icd11:2A00.10 semapv:UnspecifiedMatching Orphanet:251858 Medulloblastoma with extensive nodularity oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching Orphanet:251858 Medulloblastoma with extensive nodularity oboInOwl:hasDbXref ICD10:C71.6 semapv:UnspecifiedMatching @@ -19896,22 +19775,16 @@ Orphanet:251867 Classic medulloblastoma oboInOwl:hasDbXref icd11:2A00.10 semapv: Orphanet:251867 Classic medulloblastoma oboInOwl:hasDbXref icd11:XH0RY1 semapv:UnspecifiedMatching Orphanet:251867 Classic medulloblastoma oboInOwl:hasDbXref icd11:XH3EX1 semapv:UnspecifiedMatching Orphanet:251870 Central nervous system embryonal tumor oboInOwl:hasDbXref MedDRA:10057846 semapv:UnspecifiedMatching +Orphanet:251870 Central nervous system embryonal tumor oboInOwl:hasDbXref UMLS:C1333378 semapv:UnspecifiedMatching Orphanet:251877 Ganglioneuroblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251877 Ganglioneuroblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251877 Ganglioneuroblastoma oboInOwl:hasDbXref MESH:D018305 semapv:UnspecifiedMatching Orphanet:251877 Ganglioneuroblastoma oboInOwl:hasDbXref MedDRA:10017708 semapv:UnspecifiedMatching Orphanet:251877 Ganglioneuroblastoma oboInOwl:hasDbXref UMLS:C0206718 semapv:UnspecifiedMatching Orphanet:251877 Ganglioneuroblastoma oboInOwl:hasDbXref icd11:2A00.11 semapv:UnspecifiedMatching -Orphanet:251880 Ependymoblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -Orphanet:251880 Ependymoblastoma oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:251880 Ependymoblastoma oboInOwl:hasDbXref MedDRA:10014966 semapv:UnspecifiedMatching Orphanet:251880 Ependymoblastoma oboInOwl:hasDbXref UMLS:C0700367 semapv:UnspecifiedMatching -Orphanet:251880 Ependymoblastoma oboInOwl:hasDbXref icd11:2A00.11 semapv:UnspecifiedMatching -Orphanet:251880 Ependymoblastoma oboInOwl:hasDbXref icd11:XH6922 semapv:UnspecifiedMatching -Orphanet:251883 Medulloepithelioma of the central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching -Orphanet:251883 Medulloepithelioma of the central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching Orphanet:251883 Medulloepithelioma of the central nervous system oboInOwl:hasDbXref UMLS:C5231013 semapv:UnspecifiedMatching -Orphanet:251883 Medulloepithelioma of the central nervous system oboInOwl:hasDbXref icd11:2A00.11 semapv:UnspecifiedMatching Orphanet:251896 Choroid plexus tumor oboInOwl:hasDbXref MESH:D016545 semapv:UnspecifiedMatching Orphanet:251896 Choroid plexus tumor oboInOwl:hasDbXref UMLS:C0085138 semapv:UnspecifiedMatching Orphanet:251896 Choroid plexus tumor oboInOwl:hasDbXref icd11:2A00.22 semapv:UnspecifiedMatching @@ -19952,6 +19825,8 @@ Orphanet:251915 Papillary tumor of the pineal region oboInOwl:hasDbXref icd11:XH Orphanet:251919 Pineal parenchymal tumor of intermediate differentiation oboInOwl:hasDbXref ICD10:D44.5 semapv:UnspecifiedMatching Orphanet:251919 Pineal parenchymal tumor of intermediate differentiation oboInOwl:hasDbXref ICD10:D44.5 semapv:UnspecifiedMatching Orphanet:251919 Pineal parenchymal tumor of intermediate differentiation oboInOwl:hasDbXref UMLS:C1367859 semapv:UnspecifiedMatching +Orphanet:251919 Pineal parenchymal tumor of intermediate differentiation oboInOwl:hasDbXref icd11:2A00.20 semapv:UnspecifiedMatching +Orphanet:251919 Pineal parenchymal tumor of intermediate differentiation oboInOwl:hasDbXref icd11:XH1S48 semapv:UnspecifiedMatching Orphanet:251924 Neuronal tumor oboInOwl:hasDbXref UMLS:C5680700 semapv:UnspecifiedMatching Orphanet:251927 Extraventricular neurocytoma oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching Orphanet:251927 Extraventricular neurocytoma oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching @@ -19963,7 +19838,7 @@ Orphanet:251934 Mixed neuronal-glial tumor oboInOwl:hasDbXref UMLS:C5680701 sema Orphanet:251934 Mixed neuronal-glial tumor oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching Orphanet:251937 Gangliocytoma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching Orphanet:251937 Gangliocytoma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching -Orphanet:251937 Gangliocytoma oboInOwl:hasDbXref UMLS:C5190517 semapv:UnspecifiedMatching +Orphanet:251937 Gangliocytoma oboInOwl:hasDbXref UMLS:C5779630 semapv:UnspecifiedMatching Orphanet:251937 Gangliocytoma oboInOwl:hasDbXref icd11:2A00.21 semapv:UnspecifiedMatching Orphanet:251937 Gangliocytoma oboInOwl:hasDbXref icd11:XH6KA6 semapv:UnspecifiedMatching Orphanet:251940 Desmoplastic infantile astrocytoma/ganglioglioma oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching @@ -20006,6 +19881,7 @@ Orphanet:251992 Ganglioneuroma oboInOwl:hasDbXref icd11:XH03L9 semapv:Unspecifie Orphanet:251995 Primary germ cell tumor of central nervous system oboInOwl:hasDbXref UMLS:C5679625 semapv:UnspecifiedMatching Orphanet:252006 Yolk sac tumor of central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching Orphanet:252006 Yolk sac tumor of central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching +Orphanet:252006 Yolk sac tumor of central nervous system oboInOwl:hasDbXref UMLS:C1337040 semapv:UnspecifiedMatching Orphanet:252006 Yolk sac tumor of central nervous system oboInOwl:hasDbXref icd11:2A00.1Y semapv:UnspecifiedMatching Orphanet:252015 Choriocarcinoma of the central nervous system oboInOwl:hasDbXref ICD10:C71.2 semapv:UnspecifiedMatching Orphanet:252015 Choriocarcinoma of the central nervous system oboInOwl:hasDbXref ICD10:C71.2 semapv:UnspecifiedMatching @@ -20013,8 +19889,10 @@ Orphanet:252015 Choriocarcinoma of the central nervous system oboInOwl:hasDbXref Orphanet:252015 Choriocarcinoma of the central nervous system oboInOwl:hasDbXref icd11:2A00.1Y semapv:UnspecifiedMatching Orphanet:252018 Teratoma of the central nervous system oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching Orphanet:252018 Teratoma of the central nervous system oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching +Orphanet:252018 Teratoma of the central nervous system oboInOwl:hasDbXref UMLS:C1332895 semapv:UnspecifiedMatching Orphanet:252021 Mixed germ cell tumor of central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching Orphanet:252021 Mixed germ cell tumor of central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching +Orphanet:252021 Mixed germ cell tumor of central nervous system oboInOwl:hasDbXref UMLS:C1334785 semapv:UnspecifiedMatching Orphanet:252021 Mixed germ cell tumor of central nervous system oboInOwl:hasDbXref icd11:2A00.1Y semapv:UnspecifiedMatching Orphanet:252025 Tumor of meninges oboInOwl:hasDbXref MESH:D008577 semapv:UnspecifiedMatching Orphanet:252025 Tumor of meninges oboInOwl:hasDbXref MedDRA:10061282 semapv:UnspecifiedMatching @@ -20047,6 +19925,7 @@ Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differe Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation oboInOwl:hasDbXref ICD10:C47.9 semapv:UnspecifiedMatching Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation oboInOwl:hasDbXref UMLS:C1266188 semapv:UnspecifiedMatching Orphanet:252128 Malignant peripheral nerve sheath tumor with perineurial differentiation oboInOwl:hasDbXref icd11:2C41 semapv:UnspecifiedMatching +Orphanet:252131 Benign peripheral nerve sheath tumor oboInOwl:hasDbXref UMLS:C5577926 semapv:UnspecifiedMatching Orphanet:252164 Benign schwannoma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching Orphanet:252164 Benign schwannoma oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching Orphanet:252164 Benign schwannoma oboInOwl:hasDbXref MESH:D009442 semapv:UnspecifiedMatching @@ -20138,7 +20017,7 @@ Orphanet:2538 Microgastria-limb reduction defect syndrome oboInOwl:hasDbXref ICD Orphanet:2538 Microgastria-limb reduction defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2538 Microgastria-limb reduction defect syndrome oboInOwl:hasDbXref MESH:C537554 semapv:UnspecifiedMatching Orphanet:2538 Microgastria-limb reduction defect syndrome oboInOwl:hasDbXref OMIM:156810 semapv:UnspecifiedMatching -Orphanet:2538 Microgastria-limb reduction defect syndrome oboInOwl:hasDbXref UMLS:C5680811 semapv:UnspecifiedMatching +Orphanet:2538 Microgastria-limb reduction defect syndrome oboInOwl:hasDbXref UMLS:C4303067 semapv:UnspecifiedMatching Orphanet:2538 Microgastria-limb reduction defect syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:254 Spondylometaphyseal dysplasia oboInOwl:hasDbXref UMLS:C4759767 semapv:UnspecifiedMatching Orphanet:254 Spondylometaphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.4 semapv:UnspecifiedMatching @@ -20218,12 +20097,13 @@ Orphanet:254509 Iatrogenic botulism oboInOwl:hasDbXref ICD10:A05.1 semapv:Unspec Orphanet:254509 Iatrogenic botulism oboInOwl:hasDbXref icd11:1A11.1 semapv:UnspecifiedMatching Orphanet:254516 Temple syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:254516 Temple syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:254516 Temple syndrome oboInOwl:hasDbXref MESH:C000726750 semapv:UnspecifiedMatching Orphanet:254516 Temple syndrome oboInOwl:hasDbXref OMIM:616222 semapv:UnspecifiedMatching Orphanet:254516 Temple syndrome oboInOwl:hasDbXref UMLS:C4015558 semapv:UnspecifiedMatching Orphanet:254519 Kagami-Ogata syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:254519 Kagami-Ogata syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:254519 Kagami-Ogata syndrome oboInOwl:hasDbXref OMIM:608149 semapv:UnspecifiedMatching -Orphanet:254519 Kagami-Ogata syndrome oboInOwl:hasDbXref UMLS:C1842466 semapv:UnspecifiedMatching +Orphanet:254519 Kagami-Ogata syndrome oboInOwl:hasDbXref UMLS:C5779872 semapv:UnspecifiedMatching Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:254525 Temple syndrome due to paternal 14q32.2 microdeletion oboInOwl:hasDbXref OMIM:616222 semapv:UnspecifiedMatching @@ -20270,18 +20150,15 @@ Orphanet:2547 Microphthalmia-microtia-fetal akinesia syndrome oboInOwl:hasDbXref Orphanet:254704 Genetic hyperferritinemia without iron overload oboInOwl:hasDbXref ICD10:R77.8 semapv:UnspecifiedMatching Orphanet:254704 Genetic hyperferritinemia without iron overload oboInOwl:hasDbXref ICD10:R77.8 semapv:UnspecifiedMatching Orphanet:254704 Genetic hyperferritinemia without iron overload oboInOwl:hasDbXref UMLS:C4707880 semapv:UnspecifiedMatching -Orphanet:254707 Faisalabad histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -Orphanet:254707 Faisalabad histiocytosis oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -Orphanet:254712 Familial sinus histiocytosis with massive lymphadenopathy oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -Orphanet:254712 Familial sinus histiocytosis with massive lymphadenopathy oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -Orphanet:254723 Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching -Orphanet:254723 Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome oboInOwl:hasDbXref ICD10:D76.3 semapv:UnspecifiedMatching +Orphanet:254746 Pyruvate metabolism disorder oboInOwl:hasDbXref UMLS:C0268192 semapv:UnspecifiedMatching Orphanet:254749 Tricarboxylic acid cycle disorder oboInOwl:hasDbXref UMLS:C5679646 semapv:UnspecifiedMatching Orphanet:254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies oboInOwl:hasDbXref UMLS:C5679644 semapv:UnspecifiedMatching Orphanet:254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA oboInOwl:hasDbXref UMLS:C5679643 semapv:UnspecifiedMatching Orphanet:254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA oboInOwl:hasDbXref UMLS:C5679645 semapv:UnspecifiedMatching +Orphanet:254788 Mitochondrial DNA-related mitochondrial myopathy oboInOwl:hasDbXref UMLS:C5569013 semapv:UnspecifiedMatching Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form oboInOwl:hasDbXref OMIM:612073 semapv:UnspecifiedMatching Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form oboInOwl:hasDbXref OMIM:612075 semapv:UnspecifiedMatching +Orphanet:254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form oboInOwl:hasDbXref UMLS:C4707428 semapv:UnspecifiedMatching Orphanet:254807 Multiple mitochondrial DNA deletion syndrome oboInOwl:hasDbXref UMLS:C5679633 semapv:UnspecifiedMatching Orphanet:254807 Multiple mitochondrial DNA deletion syndrome oboInOwl:hasDbXref icd11:5C53.21 semapv:UnspecifiedMatching Orphanet:254818 Ataxia neuropathy spectrum oboInOwl:hasDbXref MESH:C579922 semapv:UnspecifiedMatching @@ -20380,14 +20257,13 @@ Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619063 semapv:UnspecifiedMatching Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619064 semapv:UnspecifiedMatching Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref OMIM:619355 semapv:UnspecifiedMatching -Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref UMLS:C0268237 semapv:UnspecifiedMatching +Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref UMLS:C5779825 semapv:UnspecifiedMatching Orphanet:254905 Isolated cytochrome C oxidase deficiency oboInOwl:hasDbXref icd11:5C53.2Y semapv:UnspecifiedMatching Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:604273 semapv:UnspecifiedMatching Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:614053 semapv:UnspecifiedMatching Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:615228 semapv:UnspecifiedMatching -Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:616045 semapv:UnspecifiedMatching Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:618120 semapv:UnspecifiedMatching Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref OMIM:618683 semapv:UnspecifiedMatching Orphanet:254913 Isolated ATP synthase deficiency oboInOwl:hasDbXref UMLS:C4757950 semapv:UnspecifiedMatching @@ -20457,35 +20333,8 @@ Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form wi Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy oboInOwl:hasDbXref OMIM:612075 semapv:UnspecifiedMatching Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy oboInOwl:hasDbXref UMLS:C2749861 semapv:UnspecifiedMatching Orphanet:255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy oboInOwl:hasDbXref icd11:5C53.20 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:252010 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:256000 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:616277 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618222 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618224 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618225 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618226 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618228 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618229 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618230 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618233 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618235 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618239 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618240 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618241 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618243 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618244 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618248 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref OMIM:618249 semapv:UnspecifiedMatching Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref UMLS:C5679635 semapv:UnspecifiedMatching -Orphanet:255241 Leigh syndrome with leukodystrophy oboInOwl:hasDbXref icd11:5C53.24 semapv:UnspecifiedMatching -Orphanet:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -Orphanet:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -Orphanet:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref OMIM:607426 semapv:UnspecifiedMatching -Orphanet:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref OMIM:614652 semapv:UnspecifiedMatching Orphanet:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref UMLS:C5190833 semapv:UnspecifiedMatching -Orphanet:255249 Leigh syndrome with nephrotic syndrome oboInOwl:hasDbXref icd11:5C53.24 semapv:UnspecifiedMatching Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2554 Ear-patella-short stature syndrome oboInOwl:hasDbXref MESH:C538012 semapv:UnspecifiedMatching @@ -20619,7 +20468,8 @@ Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl: Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl:hasDbXref MESH:D016603 semapv:UnspecifiedMatching Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl:hasDbXref MedDRA:10014952 semapv:UnspecifiedMatching -Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl:hasDbXref UMLS:C5680853 semapv:UnspecifiedMatching +Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl:hasDbXref UMLS:C1275050 semapv:UnspecifiedMatching +Orphanet:2582 Myalgia-eosinophilia syndrome associated with tryptophan oboInOwl:hasDbXref icd11:4A43.Y semapv:UnspecifiedMatching Orphanet:2583 Mycetoma oboInOwl:hasDbXref ICD10:B47.0 semapv:UnspecifiedMatching Orphanet:2583 Mycetoma oboInOwl:hasDbXref ICD10:B47.0 semapv:UnspecifiedMatching Orphanet:2583 Mycetoma oboInOwl:hasDbXref ICD10:B47.1 semapv:UnspecifiedMatching @@ -21022,10 +20872,11 @@ Orphanet:261476 Xp21 deletion syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:Uns Orphanet:261476 Xp21 deletion syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:261476 Xp21 deletion syndrome oboInOwl:hasDbXref OMIM:300679 semapv:UnspecifiedMatching Orphanet:261476 Xp21 deletion syndrome oboInOwl:hasDbXref UMLS:C0795887 semapv:UnspecifiedMatching +Orphanet:261476 Xp21 deletion syndrome oboInOwl:hasDbXref icd11:LD51 semapv:UnspecifiedMatching Orphanet:261483 Xq27.3q28 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:261483 Xq27.3q28 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:261483 Xq27.3q28 duplication syndrome oboInOwl:hasDbXref OMIM:300869 semapv:UnspecifiedMatching -Orphanet:261483 Xq27.3q28 duplication syndrome oboInOwl:hasDbXref UMLS:C5679678 semapv:UnspecifiedMatching +Orphanet:261483 Xq27.3q28 duplication syndrome oboInOwl:hasDbXref UMLS:C4305103 semapv:UnspecifiedMatching Orphanet:261483 Xq27.3q28 duplication syndrome oboInOwl:hasDbXref icd11:LD51 semapv:UnspecifiedMatching Orphanet:261494 Kleefstra syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:261494 Kleefstra syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -21087,6 +20938,7 @@ Orphanet:261619 Alagille syndrome due to a JAG1 point mutation oboInOwl:hasDbXre Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation oboInOwl:hasDbXref ICD10:Q44.7 semapv:UnspecifiedMatching Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation oboInOwl:hasDbXref OMIM:610205 semapv:UnspecifiedMatching +Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation oboInOwl:hasDbXref UMLS:C1857761 semapv:UnspecifiedMatching Orphanet:261629 Alagille syndrome due to a NOTCH2 point mutation oboInOwl:hasDbXref icd11:LB20.0Y semapv:UnspecifiedMatching Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:261638 Okihiro syndrome due to 20q13 microdeletion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -21156,13 +21008,16 @@ Orphanet:261938 Partial deletion of the short arm of chromosome 10 oboInOwl:hasD Orphanet:261938 Partial deletion of the short arm of chromosome 10 oboInOwl:hasDbXref UMLS:C0795836 semapv:UnspecifiedMatching Orphanet:261938 Partial deletion of the short arm of chromosome 10 oboInOwl:hasDbXref icd11:LD44.A1 semapv:UnspecifiedMatching Orphanet:261947 Partial deletion of the short arm of chromosome 11 oboInOwl:hasDbXref MESH:C538295 semapv:UnspecifiedMatching +Orphanet:261947 Partial deletion of the short arm of chromosome 11 oboInOwl:hasDbXref UMLS:C2931801 semapv:UnspecifiedMatching Orphanet:261947 Partial deletion of the short arm of chromosome 11 oboInOwl:hasDbXref icd11:LD44.B1 semapv:UnspecifiedMatching Orphanet:261956 Partial deletion of the short arm of chromosome 16 oboInOwl:hasDbXref UMLS:C5679670 semapv:UnspecifiedMatching Orphanet:261956 Partial deletion of the short arm of chromosome 16 oboInOwl:hasDbXref icd11:LD44.G1 semapv:UnspecifiedMatching +Orphanet:261965 Partial deletion of the short arm of chromosome 17 oboInOwl:hasDbXref UMLS:C5679671 semapv:UnspecifiedMatching Orphanet:261965 Partial deletion of the short arm of chromosome 17 oboInOwl:hasDbXref icd11:LD44.H1 semapv:UnspecifiedMatching Orphanet:261974 Partial deletion of the short arm of chromosome 18 oboInOwl:hasDbXref icd11:LD44.J1 semapv:UnspecifiedMatching Orphanet:261983 Partial deletion of the short arm of chromosome 19 oboInOwl:hasDbXref UMLS:C5679672 semapv:UnspecifiedMatching Orphanet:261983 Partial deletion of the short arm of chromosome 19 oboInOwl:hasDbXref icd11:LD44.K1 semapv:UnspecifiedMatching +Orphanet:261992 Partial deletion of the short arm of chromosome 20 oboInOwl:hasDbXref UMLS:C5679673 semapv:UnspecifiedMatching Orphanet:261992 Partial deletion of the short arm of chromosome 20 oboInOwl:hasDbXref icd11:LD44.L1 semapv:UnspecifiedMatching Orphanet:262 Duchenne and Becker muscular dystrophy oboInOwl:hasDbXref UMLS:C3542021 semapv:UnspecifiedMatching Orphanet:262001 Partial deletion of the long arm of chromosome 1 oboInOwl:hasDbXref UMLS:C5679674 semapv:UnspecifiedMatching @@ -21186,16 +21041,21 @@ Orphanet:262056 Partial deletion of the long arm of chromosome 7 oboInOwl:hasDbX Orphanet:262065 Partial deletion of the long arm of chromosome 8 oboInOwl:hasDbXref MESH:C537828 semapv:UnspecifiedMatching Orphanet:262065 Partial deletion of the long arm of chromosome 8 oboInOwl:hasDbXref UMLS:C0795828 semapv:UnspecifiedMatching Orphanet:262065 Partial deletion of the long arm of chromosome 8 oboInOwl:hasDbXref icd11:LD44.80 semapv:UnspecifiedMatching +Orphanet:262074 Partial deletion of the long arm of chromosome 9 oboInOwl:hasDbXref UMLS:C5679677 semapv:UnspecifiedMatching Orphanet:262074 Partial deletion of the long arm of chromosome 9 oboInOwl:hasDbXref icd11:LD44.90 semapv:UnspecifiedMatching Orphanet:262083 Partial deletion of the long arm of chromosome 10 oboInOwl:hasDbXref MESH:C538289 semapv:UnspecifiedMatching Orphanet:262083 Partial deletion of the long arm of chromosome 10 oboInOwl:hasDbXref UMLS:C0795839 semapv:UnspecifiedMatching Orphanet:262083 Partial deletion of the long arm of chromosome 10 oboInOwl:hasDbXref icd11:LD44.A0 semapv:UnspecifiedMatching Orphanet:262092 Partial deletion of the long arm of chromosome 11 oboInOwl:hasDbXref MESH:C538296 semapv:UnspecifiedMatching +Orphanet:262092 Partial deletion of the long arm of chromosome 11 oboInOwl:hasDbXref UMLS:C2931804 semapv:UnspecifiedMatching Orphanet:262092 Partial deletion of the long arm of chromosome 11 oboInOwl:hasDbXref icd11:LD44.B0 semapv:UnspecifiedMatching Orphanet:262101 Partial deletion of the long arm of chromosome 13 oboInOwl:hasDbXref MESH:C535484 semapv:UnspecifiedMatching Orphanet:262101 Partial deletion of the long arm of chromosome 13 oboInOwl:hasDbXref UMLS:C0265451 semapv:UnspecifiedMatching Orphanet:262110 Partial deletion of the long arm of chromosome 14 oboInOwl:hasDbXref MESH:C538031 semapv:UnspecifiedMatching +Orphanet:262110 Partial deletion of the long arm of chromosome 14 oboInOwl:hasDbXref UMLS:C2931697 semapv:UnspecifiedMatching Orphanet:262119 Partial deletion of the long arm of chromosome 15 oboInOwl:hasDbXref MESH:C538038 semapv:UnspecifiedMatching +Orphanet:262119 Partial deletion of the long arm of chromosome 15 oboInOwl:hasDbXref UMLS:C2931708 semapv:UnspecifiedMatching +Orphanet:262128 Partial deletion of the long arm of chromosome 16 oboInOwl:hasDbXref UMLS:C4736186 semapv:UnspecifiedMatching Orphanet:262128 Partial deletion of the long arm of chromosome 16 oboInOwl:hasDbXref icd11:LD44.G0 semapv:UnspecifiedMatching Orphanet:262137 Partial deletion of the long arm of chromosome 17 oboInOwl:hasDbXref UMLS:C5679727 semapv:UnspecifiedMatching Orphanet:262137 Partial deletion of the long arm of chromosome 17 oboInOwl:hasDbXref icd11:LD44.H0 semapv:UnspecifiedMatching @@ -21208,6 +21068,11 @@ Orphanet:262164 Partial deletion of the long arm of chromosome 20 oboInOwl:hasDb Orphanet:262173 Partial deletion of the long arm of chromosome 21 oboInOwl:hasDbXref UMLS:C5679731 semapv:UnspecifiedMatching Orphanet:262173 Partial deletion of the long arm of chromosome 21 oboInOwl:hasDbXref icd11:LD44.M semapv:UnspecifiedMatching Orphanet:262182 Partial deletion of the long arm of chromosome 22 oboInOwl:hasDbXref UMLS:C5679725 semapv:UnspecifiedMatching +Orphanet:262191 Partial duplication of chromosome 1 oboInOwl:hasDbXref UMLS:C4518488 semapv:UnspecifiedMatching +Orphanet:262196 Partial duplication of chromosome 2 oboInOwl:hasDbXref UMLS:C4518490 semapv:UnspecifiedMatching +Orphanet:262201 Partial duplication of chromosome 3 oboInOwl:hasDbXref UMLS:C4518491 semapv:UnspecifiedMatching +Orphanet:262206 Partial duplication of chromosome 4 oboInOwl:hasDbXref UMLS:C4518492 semapv:UnspecifiedMatching +Orphanet:262211 Partial duplication/triplication of chromosome 5 oboInOwl:hasDbXref UMLS:C5816686 semapv:UnspecifiedMatching Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref MedDRA:10063361 semapv:UnspecifiedMatching @@ -21216,25 +21081,43 @@ Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref OMIM:614185 semapv:Unspec Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref OMIM:617809 semapv:UnspecifiedMatching Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref UMLS:C3489726 semapv:UnspecifiedMatching Orphanet:2623 Geleophysic dysplasia oboInOwl:hasDbXref icd11:LD24.8Y semapv:UnspecifiedMatching +Orphanet:262628 Partial duplication of chromosome 6 oboInOwl:hasDbXref UMLS:C4518495 semapv:UnspecifiedMatching +Orphanet:262633 Partial duplication of chromosome 7 oboInOwl:hasDbXref UMLS:C4518496 semapv:UnspecifiedMatching Orphanet:262638 Partial duplication of chromosome 8 oboInOwl:hasDbXref MESH:C537941 semapv:UnspecifiedMatching +Orphanet:262638 Partial duplication of chromosome 8 oboInOwl:hasDbXref UMLS:C2931671 semapv:UnspecifiedMatching +Orphanet:262643 Partial duplication/triplication of chromosome 9 oboInOwl:hasDbXref UMLS:C5816685 semapv:UnspecifiedMatching +Orphanet:262648 Partial duplication of chromosome 10 oboInOwl:hasDbXref UMLS:C4518498 semapv:UnspecifiedMatching +Orphanet:262653 Partial duplication of chromosome 11 oboInOwl:hasDbXref UMLS:C4518499 semapv:UnspecifiedMatching Orphanet:262653 Partial duplication of chromosome 11 oboInOwl:hasDbXref icd11:LD41.A semapv:UnspecifiedMatching +Orphanet:262658 Partial duplication/triplication of the short arm of chromosome 12 oboInOwl:hasDbXref UMLS:C5679724 semapv:UnspecifiedMatching +Orphanet:262672 Partial duplication of chromosome 16 oboInOwl:hasDbXref UMLS:C4518504 semapv:UnspecifiedMatching +Orphanet:262677 Partial duplication of chromosome 17 oboInOwl:hasDbXref UMLS:C4518505 semapv:UnspecifiedMatching +Orphanet:262682 Partial duplication/triplication of chromosome 18 oboInOwl:hasDbXref UMLS:C5816684 semapv:UnspecifiedMatching +Orphanet:262687 Partial duplication of chromosome 19 oboInOwl:hasDbXref UMLS:C4518507 semapv:UnspecifiedMatching +Orphanet:262692 Partial duplication of chromosome 20 oboInOwl:hasDbXref UMLS:C4518509 semapv:UnspecifiedMatching Orphanet:262698 Partial duplication of the short arm of chromosome 2 oboInOwl:hasDbXref UMLS:C5679718 semapv:UnspecifiedMatching Orphanet:262698 Partial duplication of the short arm of chromosome 2 oboInOwl:hasDbXref icd11:LD41.11 semapv:UnspecifiedMatching Orphanet:262707 Partial duplication of the short arm of chromosome 3 oboInOwl:hasDbXref UMLS:C5679720 semapv:UnspecifiedMatching Orphanet:262707 Partial duplication of the short arm of chromosome 3 oboInOwl:hasDbXref icd11:LD41.21 semapv:UnspecifiedMatching Orphanet:262716 Partial duplication of the short arm of chromosome 4 oboInOwl:hasDbXref UMLS:C5679719 semapv:UnspecifiedMatching Orphanet:262716 Partial duplication of the short arm of chromosome 4 oboInOwl:hasDbXref icd11:LD41.31 semapv:UnspecifiedMatching +Orphanet:262725 Partial duplication/triplication of the short arm of chromosome 5 oboInOwl:hasDbXref UMLS:C5679722 semapv:UnspecifiedMatching Orphanet:262740 Partial duplication of the short arm of chromosome 6 oboInOwl:hasDbXref UMLS:C5679721 semapv:UnspecifiedMatching Orphanet:262740 Partial duplication of the short arm of chromosome 6 oboInOwl:hasDbXref icd11:LD41.51 semapv:UnspecifiedMatching Orphanet:262749 Partial duplication of the short arm of chromosome 7 oboInOwl:hasDbXref UMLS:C5679713 semapv:UnspecifiedMatching Orphanet:262749 Partial duplication of the short arm of chromosome 7 oboInOwl:hasDbXref icd11:LD41.61 semapv:UnspecifiedMatching +Orphanet:262758 Partial duplication of the short arm of chromosome 8 oboInOwl:hasDbXref UMLS:C4708597 semapv:UnspecifiedMatching Orphanet:262758 Partial duplication of the short arm of chromosome 8 oboInOwl:hasDbXref icd11:LD41.71 semapv:UnspecifiedMatching +Orphanet:262767 Partial duplication/triplication of the short arm of chromosome 9 oboInOwl:hasDbXref UMLS:C5679711 semapv:UnspecifiedMatching Orphanet:262776 Partial duplication of the short arm of chromosome 10 oboInOwl:hasDbXref UMLS:C5679712 semapv:UnspecifiedMatching Orphanet:262776 Partial duplication of the short arm of chromosome 10 oboInOwl:hasDbXref icd11:LD41.91 semapv:UnspecifiedMatching Orphanet:262785 Partial duplication of the short arm of chromosome 11 oboInOwl:hasDbXref UMLS:C5679716 semapv:UnspecifiedMatching +Orphanet:262794 Partial duplication of the short arm of chromosome 16 oboInOwl:hasDbXref UMLS:C5566360 semapv:UnspecifiedMatching Orphanet:262794 Partial duplication of the short arm of chromosome 16 oboInOwl:hasDbXref icd11:LD41.F1 semapv:UnspecifiedMatching Orphanet:262803 Partial duplication of the short arm of chromosome 17 oboInOwl:hasDbXref UMLS:C5679714 semapv:UnspecifiedMatching Orphanet:262803 Partial duplication of the short arm of chromosome 17 oboInOwl:hasDbXref icd11:LD41.G1 semapv:UnspecifiedMatching +Orphanet:262812 Partial duplication/triplication of the short arm of chromosome 18 oboInOwl:hasDbXref UMLS:C5679715 semapv:UnspecifiedMatching +Orphanet:262833 Partial duplication of the long arm of chromosome 1 oboInOwl:hasDbXref UMLS:C4708598 semapv:UnspecifiedMatching Orphanet:262833 Partial duplication of the long arm of chromosome 1 oboInOwl:hasDbXref icd11:LD41.00 semapv:UnspecifiedMatching Orphanet:262842 Partial duplication of the long arm of chromosome 2 oboInOwl:hasDbXref UMLS:C5679706 semapv:UnspecifiedMatching Orphanet:262842 Partial duplication of the long arm of chromosome 2 oboInOwl:hasDbXref icd11:LD41.10 semapv:UnspecifiedMatching @@ -21242,6 +21125,7 @@ Orphanet:262851 Partial duplication of the long arm of chromosome 3 oboInOwl:has Orphanet:262851 Partial duplication of the long arm of chromosome 3 oboInOwl:hasDbXref icd11:LD41.20 semapv:UnspecifiedMatching Orphanet:262860 Partial duplication of the long arm of chromosome 4 oboInOwl:hasDbXref UMLS:C5679710 semapv:UnspecifiedMatching Orphanet:262860 Partial duplication of the long arm of chromosome 4 oboInOwl:hasDbXref icd11:LD41.30 semapv:UnspecifiedMatching +Orphanet:262869 Partial duplication of the long arm of chromosome 5 oboInOwl:hasDbXref UMLS:C4518494 semapv:UnspecifiedMatching Orphanet:262869 Partial duplication of the long arm of chromosome 5 oboInOwl:hasDbXref icd11:LD41.40 semapv:UnspecifiedMatching Orphanet:262878 Partial duplication of the long arm of chromosome 6 oboInOwl:hasDbXref UMLS:C5679708 semapv:UnspecifiedMatching Orphanet:262878 Partial duplication of the long arm of chromosome 6 oboInOwl:hasDbXref icd11:LD41.50 semapv:UnspecifiedMatching @@ -21249,6 +21133,7 @@ Orphanet:262887 Partial duplication of the long arm of chromosome 7 oboInOwl:has Orphanet:262887 Partial duplication of the long arm of chromosome 7 oboInOwl:hasDbXref icd11:LD41.60 semapv:UnspecifiedMatching Orphanet:262896 Partial duplication of the long arm of chromosome 8 oboInOwl:hasDbXref UMLS:C5679703 semapv:UnspecifiedMatching Orphanet:262896 Partial duplication of the long arm of chromosome 8 oboInOwl:hasDbXref icd11:LD41.70 semapv:UnspecifiedMatching +Orphanet:262905 Partial duplication of the long arm of chromosome 9 oboInOwl:hasDbXref UMLS:C5679702 semapv:UnspecifiedMatching Orphanet:262905 Partial duplication of the long arm of chromosome 9 oboInOwl:hasDbXref icd11:LD41.81 semapv:UnspecifiedMatching Orphanet:262914 Partial duplication of the long arm of chromosome 10 oboInOwl:hasDbXref UMLS:C5679701 semapv:UnspecifiedMatching Orphanet:262914 Partial duplication of the long arm of chromosome 10 oboInOwl:hasDbXref icd11:LD41.90 semapv:UnspecifiedMatching @@ -21257,13 +21142,17 @@ Orphanet:262932 Partial duplication of the long arm of chromosome 13 oboInOwl:ha Orphanet:262932 Partial duplication of the long arm of chromosome 13 oboInOwl:hasDbXref icd11:LD41.C semapv:UnspecifiedMatching Orphanet:262941 Partial duplication of the long arm of chromosome 14 oboInOwl:hasDbXref UMLS:C5679704 semapv:UnspecifiedMatching Orphanet:262941 Partial duplication of the long arm of chromosome 14 oboInOwl:hasDbXref icd11:LD41.D semapv:UnspecifiedMatching +Orphanet:262950 Partial duplication of the long arm of chromosome 15 oboInOwl:hasDbXref UMLS:C5566335 semapv:UnspecifiedMatching Orphanet:262950 Partial duplication of the long arm of chromosome 15 oboInOwl:hasDbXref icd11:LD41.E semapv:UnspecifiedMatching +Orphanet:262959 Partial duplication of the long arm of chromosome 16 oboInOwl:hasDbXref UMLS:C5566361 semapv:UnspecifiedMatching Orphanet:262959 Partial duplication of the long arm of chromosome 16 oboInOwl:hasDbXref icd11:LD41.F0 semapv:UnspecifiedMatching Orphanet:262968 Partial duplication of the long arm of chromosome 17 oboInOwl:hasDbXref UMLS:C5679698 semapv:UnspecifiedMatching Orphanet:262968 Partial duplication of the long arm of chromosome 17 oboInOwl:hasDbXref icd11:LD41.G0 semapv:UnspecifiedMatching -Orphanet:262977 Partial duplication of the long arm of chromosome 18 oboInOwl:hasDbXref icd11:LD41.H1 semapv:UnspecifiedMatching +Orphanet:262977 Partial duplication of the long arm of chromosome 18 oboInOwl:hasDbXref UMLS:C5679697 semapv:UnspecifiedMatching +Orphanet:262977 Partial duplication of the long arm of chromosome 18 oboInOwl:hasDbXref icd11:LD41.H0 semapv:UnspecifiedMatching Orphanet:262986 Partial duplication of the long arm of chromosome 19 oboInOwl:hasDbXref UMLS:C5679696 semapv:UnspecifiedMatching Orphanet:262986 Partial duplication of the long arm of chromosome 19 oboInOwl:hasDbXref icd11:LD41.J0 semapv:UnspecifiedMatching +Orphanet:262995 Partial duplication of the long arm of chromosome 20 oboInOwl:hasDbXref UMLS:C5679695 semapv:UnspecifiedMatching Orphanet:262995 Partial duplication of the long arm of chromosome 20 oboInOwl:hasDbXref icd11:LD41.K0 semapv:UnspecifiedMatching Orphanet:263 Limb-girdle muscular dystrophy oboInOwl:hasDbXref MESH:D049288 semapv:UnspecifiedMatching Orphanet:263 Limb-girdle muscular dystrophy oboInOwl:hasDbXref UMLS:C0686353 semapv:UnspecifiedMatching @@ -21315,6 +21204,7 @@ Orphanet:263324 Thymoma type AB oboInOwl:hasDbXref icd11:2C27.2 semapv:Unspecifi Orphanet:263324 Thymoma type AB oboInOwl:hasDbXref icd11:XH0JH0 semapv:UnspecifiedMatching Orphanet:263331 Well-differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching Orphanet:263331 Well-differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching +Orphanet:263331 Well-differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref UMLS:C4305465 semapv:UnspecifiedMatching Orphanet:263331 Well-differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref icd11:2C27.1 semapv:UnspecifiedMatching Orphanet:263335 Moderately-differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching Orphanet:263335 Moderately-differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching @@ -21322,6 +21212,7 @@ Orphanet:263335 Moderately-differentiated thymic neuroendocrine carcinoma oboInO Orphanet:263335 Moderately-differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref icd11:2C27.1 semapv:UnspecifiedMatching Orphanet:263339 Poorly differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching Orphanet:263339 Poorly differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref ICD10:C37 semapv:UnspecifiedMatching +Orphanet:263339 Poorly differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref UMLS:C4305466 semapv:UnspecifiedMatching Orphanet:263339 Poorly differentiated thymic neuroendocrine carcinoma oboInOwl:hasDbXref icd11:2C27.1 semapv:UnspecifiedMatching Orphanet:263347 MRCS syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:263347 MRCS syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching @@ -21347,8 +21238,6 @@ Orphanet:263413 Angiosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMa Orphanet:263413 Angiosarcoma oboInOwl:hasDbXref MedDRA:10002476 semapv:UnspecifiedMatching Orphanet:263413 Angiosarcoma oboInOwl:hasDbXref UMLS:C0018923 semapv:UnspecifiedMatching Orphanet:263413 Angiosarcoma oboInOwl:hasDbXref icd11:2B56 semapv:UnspecifiedMatching -Orphanet:263417 Bartter syndrome with hypocalcemia oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching -Orphanet:263417 Bartter syndrome with hypocalcemia oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching Orphanet:263425 Nevus of Ota oboInOwl:hasDbXref ICD10:D22.3 semapv:UnspecifiedMatching Orphanet:263425 Nevus of Ota oboInOwl:hasDbXref ICD10:D22.3 semapv:UnspecifiedMatching Orphanet:263425 Nevus of Ota oboInOwl:hasDbXref MESH:D009507 semapv:UnspecifiedMatching @@ -21370,7 +21259,7 @@ Orphanet:263455 Congenital hyperinsulinism due to HNF4A deficiency oboInOwl:hasD Orphanet:263458 Hyperinsulinism due to INSR deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching Orphanet:263458 Hyperinsulinism due to INSR deficiency oboInOwl:hasDbXref ICD10:E16.1 semapv:UnspecifiedMatching Orphanet:263458 Hyperinsulinism due to INSR deficiency oboInOwl:hasDbXref OMIM:609968 semapv:UnspecifiedMatching -Orphanet:263458 Hyperinsulinism due to INSR deficiency oboInOwl:hasDbXref UMLS:C5679694 semapv:UnspecifiedMatching +Orphanet:263458 Hyperinsulinism due to INSR deficiency oboInOwl:hasDbXref UMLS:C4303474 semapv:UnspecifiedMatching Orphanet:263463 CHST3-related skeletal dysplasia oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:263463 CHST3-related skeletal dysplasia oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:263463 CHST3-related skeletal dysplasia oboInOwl:hasDbXref OMIM:143095 semapv:UnspecifiedMatching @@ -21385,11 +21274,11 @@ Orphanet:26348 Acquired prothrombin deficiency oboInOwl:hasDbXref ICD10:D68.4 se Orphanet:26348 Acquired prothrombin deficiency oboInOwl:hasDbXref MESH:C538174 semapv:UnspecifiedMatching Orphanet:26348 Acquired prothrombin deficiency oboInOwl:hasDbXref UMLS:C0392610 semapv:UnspecifiedMatching Orphanet:26348 Acquired prothrombin deficiency oboInOwl:hasDbXref icd11:3B2Y semapv:UnspecifiedMatching -Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref OMIM:184095 semapv:UnspecifiedMatching -Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref UMLS:C3159322 semapv:UnspecifiedMatching -Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:263482 Spondyloepimetaphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:263482 Spondyloepimetaphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:263482 Spondyloepimetaphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref OMIM:184095 semapv:UnspecifiedMatching +Orphanet:263482 Spondyloepimetaphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref UMLS:C3159322 semapv:UnspecifiedMatching +Orphanet:263482 Spondyloepimetaphyseal dysplasia, Maroteaux type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching Orphanet:263487 COG5-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:263487 COG5-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:263487 COG5-CDG oboInOwl:hasDbXref OMIM:613612 semapv:UnspecifiedMatching @@ -21441,6 +21330,7 @@ Orphanet:263534 Acral peeling skin syndrome oboInOwl:hasDbXref MESH:C536316 sema Orphanet:263534 Acral peeling skin syndrome oboInOwl:hasDbXref MedDRA:10078538 semapv:UnspecifiedMatching Orphanet:263534 Acral peeling skin syndrome oboInOwl:hasDbXref OMIM:609796 semapv:UnspecifiedMatching Orphanet:263534 Acral peeling skin syndrome oboInOwl:hasDbXref UMLS:C1853354 semapv:UnspecifiedMatching +Orphanet:263534 Acral peeling skin syndrome oboInOwl:hasDbXref icd11:EC20.1 semapv:UnspecifiedMatching Orphanet:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref OMIM:270300 semapv:UnspecifiedMatching @@ -21450,6 +21340,7 @@ Orphanet:263543 Generalized peeling skin syndrome oboInOwl:hasDbXref icd11:EC20. Orphanet:263548 Peeling skin syndrome type A oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:263548 Peeling skin syndrome type A oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:263548 Peeling skin syndrome type A oboInOwl:hasDbXref OMIM:616265 semapv:UnspecifiedMatching +Orphanet:263548 Peeling skin syndrome type A oboInOwl:hasDbXref OMIM:617115 semapv:UnspecifiedMatching Orphanet:263548 Peeling skin syndrome type A oboInOwl:hasDbXref OMIM:618084 semapv:UnspecifiedMatching Orphanet:263548 Peeling skin syndrome type A oboInOwl:hasDbXref UMLS:C5679692 semapv:UnspecifiedMatching Orphanet:263548 Peeling skin syndrome type A oboInOwl:hasDbXref icd11:EC20.1 semapv:UnspecifiedMatching @@ -21479,10 +21370,13 @@ Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II oboInOwl Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref UMLS:C0432246 semapv:UnspecifiedMatching Orphanet:2637 Microcephalic osteodysplastic primordial dwarfism type II oboInOwl:hasDbXref icd11:LD20.2 semapv:UnspecifiedMatching Orphanet:263708 Complex chromosomal rearrangement oboInOwl:hasDbXref UMLS:C5680729 semapv:UnspecifiedMatching +Orphanet:263714 X chromosome number anomaly oboInOwl:hasDbXref UMLS:C4736187 semapv:UnspecifiedMatching Orphanet:263717 X chromosome number anomaly with female phenotype oboInOwl:hasDbXref UMLS:C5680728 semapv:UnspecifiedMatching Orphanet:263720 X chromosome number anomaly with male phenotype oboInOwl:hasDbXref UMLS:C5680727 semapv:UnspecifiedMatching Orphanet:263723 Polysomy of X chromosome oboInOwl:hasDbXref UMLS:C5680726 semapv:UnspecifiedMatching Orphanet:263726 Partial deletion of chromosome X oboInOwl:hasDbXref UMLS:C5679690 semapv:UnspecifiedMatching +Orphanet:263731 Partial deletion of the short arm of the chromosome X oboInOwl:hasDbXref UMLS:C5679689 semapv:UnspecifiedMatching +Orphanet:263746 Y chromosome number anomaly oboInOwl:hasDbXref UMLS:C4736189 semapv:UnspecifiedMatching Orphanet:263746 Y chromosome number anomaly oboInOwl:hasDbXref icd11:LD52 semapv:UnspecifiedMatching Orphanet:263749 X and Y chromosomal anomaly oboInOwl:hasDbXref UMLS:C5680725 semapv:UnspecifiedMatching Orphanet:263756 Partial deletion of the long arm of chromosome X oboInOwl:hasDbXref UMLS:C5679688 semapv:UnspecifiedMatching @@ -21497,11 +21391,8 @@ Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref MESH:C537931 semapv:UnspecifiedMatching Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref OMIM:228900 semapv:UnspecifiedMatching -Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref OMIM:609441 semapv:UnspecifiedMatching Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref UMLS:C1856738 semapv:UnspecifiedMatching Orphanet:2639 Fibular aplasia-complex brachydactyly syndrome oboInOwl:hasDbXref icd11:LD26.0 semapv:UnspecifiedMatching -Orphanet:264 Autosomal dominant limb-girdle muscular dystrophy type 1B oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -Orphanet:264 Autosomal dominant limb-girdle muscular dystrophy type 1B oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:264 Autosomal dominant limb-girdle muscular dystrophy type 1B oboInOwl:hasDbXref OMIM:159001 semapv:UnspecifiedMatching Orphanet:264 Autosomal dominant limb-girdle muscular dystrophy type 1B oboInOwl:hasDbXref UMLS:C1834653 semapv:UnspecifiedMatching Orphanet:264200 14q22q23 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching @@ -21539,14 +21430,11 @@ Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase defic Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref OMIM:306000 semapv:UnspecifiedMatching Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref OMIM:613027 semapv:UnspecifiedMatching -Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref UMLS:C5575419 semapv:UnspecifiedMatching +Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref UMLS:C3694529 semapv:UnspecifiedMatching Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching -Orphanet:2646 Parastremmatic dwarfism oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -Orphanet:2646 Parastremmatic dwarfism oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -Orphanet:2646 Parastremmatic dwarfism oboInOwl:hasDbXref MESH:C537172 semapv:UnspecifiedMatching -Orphanet:2646 Parastremmatic dwarfism oboInOwl:hasDbXref OMIM:168400 semapv:UnspecifiedMatching -Orphanet:2646 Parastremmatic dwarfism oboInOwl:hasDbXref UMLS:C1868616 semapv:UnspecifiedMatching -Orphanet:2646 Parastremmatic dwarfism oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:2646 Parastremmatic dysplasia oboInOwl:hasDbXref MESH:C537172 semapv:UnspecifiedMatching +Orphanet:2646 Parastremmatic dysplasia oboInOwl:hasDbXref OMIM:168400 semapv:UnspecifiedMatching +Orphanet:2646 Parastremmatic dysplasia oboInOwl:hasDbXref UMLS:C1868616 semapv:UnspecifiedMatching Orphanet:264656 Interstitial lung disease specific to childhood oboInOwl:hasDbXref UMLS:C5679752 semapv:UnspecifiedMatching Orphanet:264663 cholinergic receptor nicotinic alpha 7 subunit oboInOwl:hasDbXref ENSEMBL:ENSG00000175344 semapv:UnspecifiedMatching Orphanet:264663 cholinergic receptor nicotinic alpha 7 subunit oboInOwl:hasDbXref OMIM:118511 semapv:UnspecifiedMatching @@ -21584,8 +21472,6 @@ Orphanet:264740 Primary interstitial lung disease specific to adulthood oboInOwl Orphanet:264745 Secondary interstitial lung disease specific to adulthood associated with a systemic disease oboInOwl:hasDbXref UMLS:C5679745 semapv:UnspecifiedMatching Orphanet:264757 Interstitial lung disease in childhood and adulthood oboInOwl:hasDbXref UMLS:C5679746 semapv:UnspecifiedMatching Orphanet:264762 Primary interstitial lung disease in childhood and adulthood oboInOwl:hasDbXref UMLS:C5679747 semapv:UnspecifiedMatching -Orphanet:2649 Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:2649 Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2649 Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome oboInOwl:hasDbXref OMIM:243310 semapv:UnspecifiedMatching Orphanet:2649 Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome oboInOwl:hasDbXref UMLS:C2930979 semapv:UnspecifiedMatching Orphanet:264930 Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder oboInOwl:hasDbXref UMLS:C5679748 semapv:UnspecifiedMatching @@ -21603,19 +21489,12 @@ Orphanet:264978 Drug or radiation exposure-related interstitial lung disease obo Orphanet:264978 Drug or radiation exposure-related interstitial lung disease oboInOwl:hasDbXref UMLS:C5680746 semapv:UnspecifiedMatching Orphanet:264984 Exposure-related interstitial lung disease oboInOwl:hasDbXref UMLS:C5680745 semapv:UnspecifiedMatching Orphanet:264992 Genetic interstitial lung disease oboInOwl:hasDbXref UMLS:C5679736 semapv:UnspecifiedMatching -Orphanet:265 Autosomal dominant limb-girdle muscular dystrophy type 1C oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -Orphanet:265 Autosomal dominant limb-girdle muscular dystrophy type 1C oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -Orphanet:265 Autosomal dominant limb-girdle muscular dystrophy type 1C oboInOwl:hasDbXref OMIM:606072 semapv:UnspecifiedMatching Orphanet:265 Autosomal dominant limb-girdle muscular dystrophy type 1C oboInOwl:hasDbXref UMLS:C1832567 semapv:UnspecifiedMatching Orphanet:265147 serine protease 56 oboInOwl:hasDbXref ENSEMBL:ENSG00000237412 semapv:UnspecifiedMatching Orphanet:265147 serine protease 56 oboInOwl:hasDbXref OMIM:613858 semapv:UnspecifiedMatching Orphanet:265147 serine protease 56 oboInOwl:hasDbXref uniprot:P0CW18 semapv:UnspecifiedMatching -Orphanet:265258 RNA, U4atac small nuclear (U12-dependent splicing) oboInOwl:hasDbXref ENSEMBL:ENSG00000264229 semapv:UnspecifiedMatching -Orphanet:265258 RNA, U4atac small nuclear (U12-dependent splicing) oboInOwl:hasDbXref OMIM:601428 semapv:UnspecifiedMatching -Orphanet:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -Orphanet:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -Orphanet:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C4302825 semapv:UnspecifiedMatching -Orphanet:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching +Orphanet:265258 RNA, U4atac small nuclear oboInOwl:hasDbXref ENSEMBL:ENSG00000264229 semapv:UnspecifiedMatching +Orphanet:265258 RNA, U4atac small nuclear oboInOwl:hasDbXref OMIM:601428 semapv:UnspecifiedMatching Orphanet:2654 Syndesmodysplasic dwarfism oboInOwl:hasDbXref OMIM:272450 semapv:UnspecifiedMatching Orphanet:2654 Syndesmodysplasic dwarfism oboInOwl:hasDbXref UMLS:C2931647 semapv:UnspecifiedMatching Orphanet:265487 dpy-19 like 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000177990 semapv:UnspecifiedMatching @@ -21711,7 +21590,6 @@ Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbX Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref MESH:C535895 semapv:UnspecifiedMatching Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref OMIM:253600 semapv:UnspecifiedMatching -Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref OMIM:618129 semapv:UnspecifiedMatching Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref UMLS:C1869123 semapv:UnspecifiedMatching Orphanet:267 Calpain-3-related limb-girdle muscular dystrophy R1 oboInOwl:hasDbXref icd11:8C70.41 semapv:UnspecifiedMatching Orphanet:2670 Pierson syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching @@ -21769,6 +21647,7 @@ Orphanet:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref ICD10:C78.6 semapv:Unsp Orphanet:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref MESH:D011553 semapv:UnspecifiedMatching Orphanet:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref MedDRA:10037138 semapv:UnspecifiedMatching Orphanet:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref UMLS:C0033822 semapv:UnspecifiedMatching +Orphanet:26790 Pseudomyxoma peritonei oboInOwl:hasDbXref icd11:2D91 semapv:UnspecifiedMatching Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:26791 Multiple acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:D054069 semapv:UnspecifiedMatching @@ -21855,8 +21734,6 @@ Orphanet:268184 Thiamine-responsive maple syrup urine disease oboInOwl:hasDbXref Orphanet:268184 Thiamine-responsive maple syrup urine disease oboInOwl:hasDbXref OMIM:248600 semapv:UnspecifiedMatching Orphanet:268184 Thiamine-responsive maple syrup urine disease oboInOwl:hasDbXref UMLS:C0751285 semapv:UnspecifiedMatching Orphanet:268184 Thiamine-responsive maple syrup urine disease oboInOwl:hasDbXref icd11:5C50.D0 semapv:UnspecifiedMatching -Orphanet:26823 NON RARE IN EUROPE: Pigment-dispersion syndrome oboInOwl:hasDbXref ICD10:H40.1 semapv:UnspecifiedMatching -Orphanet:26823 NON RARE IN EUROPE: Pigment-dispersion syndrome oboInOwl:hasDbXref ICD10:H40.1 semapv:UnspecifiedMatching Orphanet:268249 Mycophenolate mofetil embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:268249 Mycophenolate mofetil embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:268249 Mycophenolate mofetil embryopathy oboInOwl:hasDbXref UMLS:C4509879 semapv:UnspecifiedMatching @@ -21919,6 +21796,7 @@ Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.8 semapv:Uns Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.8 semapv:UnspecifiedMatching Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching +Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref UMLS:C0917813 semapv:UnspecifiedMatching Orphanet:268369 Open spinal dysraphism oboInOwl:hasDbXref icd11:LA02.1 semapv:UnspecifiedMatching Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching @@ -21927,8 +21805,6 @@ Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref MedDRA:10053176 semapv:Unspe Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref OMIM:162800 semapv:UnspecifiedMatching Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref UMLS:C0221023 semapv:UnspecifiedMatching Orphanet:2686 Cyclic neutropenia oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching -Orphanet:2687 Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome oboInOwl:hasDbXref ICD10:C91.7 semapv:UnspecifiedMatching -Orphanet:2687 Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome oboInOwl:hasDbXref ICD10:C91.7 semapv:UnspecifiedMatching Orphanet:2687 Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome oboInOwl:hasDbXref UMLS:C2930809 semapv:UnspecifiedMatching Orphanet:268744 Spinal dysraphism with a posterior meningocele oboInOwl:hasDbXref MESH:D016137 semapv:UnspecifiedMatching Orphanet:268744 Spinal dysraphism with a posterior meningocele oboInOwl:hasDbXref MedDRA:10071011 semapv:UnspecifiedMatching @@ -21987,8 +21863,6 @@ Orphanet:268829 Basal encephalocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:Unspec Orphanet:268829 Basal encephalocele oboInOwl:hasDbXref ICD10:Q01.8 semapv:UnspecifiedMatching Orphanet:268829 Basal encephalocele oboInOwl:hasDbXref UMLS:C4023176 semapv:UnspecifiedMatching Orphanet:268829 Basal encephalocele oboInOwl:hasDbXref icd11:LA01 semapv:UnspecifiedMatching -Orphanet:268835 Lipomyelomeningocele oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching -Orphanet:268835 Lipomyelomeningocele oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching Orphanet:268835 Lipomyelomeningocele oboInOwl:hasDbXref UMLS:C1836022 semapv:UnspecifiedMatching Orphanet:268843 Malformation of the neurenteric canal, spinal cord and column oboInOwl:hasDbXref UMLS:C5680733 semapv:UnspecifiedMatching Orphanet:268861 Primary tethered cord syndrome oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching @@ -22009,8 +21883,6 @@ Orphanet:268882 Arnold-Chiari malformation type I oboInOwl:hasDbXref MedDRA:1005 Orphanet:268882 Arnold-Chiari malformation type I oboInOwl:hasDbXref OMIM:118420 semapv:UnspecifiedMatching Orphanet:268882 Arnold-Chiari malformation type I oboInOwl:hasDbXref UMLS:C0750929 semapv:UnspecifiedMatching Orphanet:268882 Arnold-Chiari malformation type I oboInOwl:hasDbXref icd11:LA07.4 semapv:UnspecifiedMatching -Orphanet:2689 Intermittent neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -Orphanet:2689 Intermittent neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching Orphanet:268920 Isolated megalencephaly oboInOwl:hasDbXref ICD10:Q04.5 semapv:UnspecifiedMatching Orphanet:268920 Isolated megalencephaly oboInOwl:hasDbXref ICD10:Q04.5 semapv:UnspecifiedMatching Orphanet:268920 Isolated megalencephaly oboInOwl:hasDbXref MESH:D058627 semapv:UnspecifiedMatching @@ -22087,7 +21959,6 @@ Orphanet:269008 Isolated focal cortical dysplasia type IIb oboInOwl:hasDbXref OM Orphanet:269008 Isolated focal cortical dysplasia type IIb oboInOwl:hasDbXref UMLS:C5679768 semapv:UnspecifiedMatching Orphanet:269008 Isolated focal cortical dysplasia type IIb oboInOwl:hasDbXref icd11:LA05.51 semapv:UnspecifiedMatching Orphanet:2691 Nevo syndrome oboInOwl:hasDbXref MESH:C536113 semapv:UnspecifiedMatching -Orphanet:2691 Nevo syndrome oboInOwl:hasDbXref OMIM:225400 semapv:UnspecifiedMatching Orphanet:2691 Nevo syndrome oboInOwl:hasDbXref UMLS:C2936777 semapv:UnspecifiedMatching Orphanet:269190 Encephaloclastic disorder oboInOwl:hasDbXref UMLS:C5680772 semapv:UnspecifiedMatching Orphanet:269190 Encephaloclastic disorder oboInOwl:hasDbXref icd11:LA05.6 semapv:UnspecifiedMatching @@ -22142,6 +22013,7 @@ Orphanet:269510 Congenital non-communicating hydrocephalus oboInOwl:hasDbXref IC Orphanet:269510 Congenital non-communicating hydrocephalus oboInOwl:hasDbXref ICD10:Q03.8 semapv:UnspecifiedMatching Orphanet:269510 Congenital non-communicating hydrocephalus oboInOwl:hasDbXref ICD10:Q03.8 semapv:UnspecifiedMatching Orphanet:269510 Congenital non-communicating hydrocephalus oboInOwl:hasDbXref OMIM:236600 semapv:UnspecifiedMatching +Orphanet:269510 Congenital non-communicating hydrocephalus oboInOwl:hasDbXref UMLS:C4546092 semapv:UnspecifiedMatching Orphanet:269510 Congenital non-communicating hydrocephalus oboInOwl:hasDbXref icd11:8D64.1 semapv:UnspecifiedMatching Orphanet:269523 Syndrome with a cerebellar malformation as a major feature oboInOwl:hasDbXref UMLS:C5680775 semapv:UnspecifiedMatching Orphanet:269528 Syndrome with microcephaly as a major feature oboInOwl:hasDbXref UMLS:C5680774 semapv:UnspecifiedMatching @@ -22281,13 +22153,13 @@ Orphanet:270354 B9 domain containing 1 oboInOwl:hasDbXref uniprot:Q9UPM9 semapv: Orphanet:270389 WASH complex subunit 4 oboInOwl:hasDbXref ENSEMBL:ENSG00000136051 semapv:UnspecifiedMatching Orphanet:270389 WASH complex subunit 4 oboInOwl:hasDbXref OMIM:615748 semapv:UnspecifiedMatching Orphanet:270389 WASH complex subunit 4 oboInOwl:hasDbXref uniprot:Q2M389 semapv:UnspecifiedMatching -Orphanet:2704 Ochoa syndrome oboInOwl:hasDbXref ICD10:N31.8 semapv:UnspecifiedMatching -Orphanet:2704 Ochoa syndrome oboInOwl:hasDbXref ICD10:N31.8 semapv:UnspecifiedMatching -Orphanet:2704 Ochoa syndrome oboInOwl:hasDbXref MESH:C536480 semapv:UnspecifiedMatching -Orphanet:2704 Ochoa syndrome oboInOwl:hasDbXref OMIM:236730 semapv:UnspecifiedMatching -Orphanet:2704 Ochoa syndrome oboInOwl:hasDbXref OMIM:615112 semapv:UnspecifiedMatching -Orphanet:2704 Ochoa syndrome oboInOwl:hasDbXref UMLS:C0403555 semapv:UnspecifiedMatching -Orphanet:2704 Ochoa syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:2704 Urofacial syndrome oboInOwl:hasDbXref ICD10:N31.8 semapv:UnspecifiedMatching +Orphanet:2704 Urofacial syndrome oboInOwl:hasDbXref ICD10:N31.8 semapv:UnspecifiedMatching +Orphanet:2704 Urofacial syndrome oboInOwl:hasDbXref MESH:C536480 semapv:UnspecifiedMatching +Orphanet:2704 Urofacial syndrome oboInOwl:hasDbXref OMIM:236730 semapv:UnspecifiedMatching +Orphanet:2704 Urofacial syndrome oboInOwl:hasDbXref OMIM:615112 semapv:UnspecifiedMatching +Orphanet:2704 Urofacial syndrome oboInOwl:hasDbXref UMLS:C0403555 semapv:UnspecifiedMatching +Orphanet:2704 Urofacial syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:270424 protein tyrosine phosphatase receptor type O oboInOwl:hasDbXref ENSEMBL:ENSG00000151490 semapv:UnspecifiedMatching Orphanet:270424 protein tyrosine phosphatase receptor type O oboInOwl:hasDbXref OMIM:600579 semapv:UnspecifiedMatching Orphanet:270424 protein tyrosine phosphatase receptor type O oboInOwl:hasDbXref uniprot:Q16827 semapv:UnspecifiedMatching @@ -22358,6 +22230,9 @@ Orphanet:271841 Genetic cardiac tumor oboInOwl:hasDbXref UMLS:C5680756 semapv:Un Orphanet:271844 Genetic urogenital tumor oboInOwl:hasDbXref UMLS:C5680761 semapv:UnspecifiedMatching Orphanet:271847 Genetic neuroendocrine tumor oboInOwl:hasDbXref UMLS:C5680760 semapv:UnspecifiedMatching Orphanet:271853 Genetic cardiac anomaly oboInOwl:hasDbXref UMLS:C5680759 semapv:UnspecifiedMatching +Orphanet:271861 Hereditary ATTR amyloidosis oboInOwl:hasDbXref ICD10:E85.1 semapv:UnspecifiedMatching +Orphanet:271861 Hereditary ATTR amyloidosis oboInOwl:hasDbXref ICD10:E85.1 semapv:UnspecifiedMatching +Orphanet:271861 Hereditary ATTR amyloidosis oboInOwl:hasDbXref OMIM:105210 semapv:UnspecifiedMatching Orphanet:271861 Hereditary ATTR amyloidosis oboInOwl:hasDbXref UMLS:C5679761 semapv:UnspecifiedMatching Orphanet:271861 Hereditary ATTR amyloidosis oboInOwl:hasDbXref icd11:5D00.20 semapv:UnspecifiedMatching Orphanet:271870 Rare genetic systemic or rheumatologic disease oboInOwl:hasDbXref UMLS:C5680758 semapv:UnspecifiedMatching @@ -22404,11 +22279,7 @@ Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type oboIn Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type oboInOwl:hasDbXref OMIM:249620 semapv:UnspecifiedMatching Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type oboInOwl:hasDbXref UMLS:C0796094 semapv:UnspecifiedMatching Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching -Orphanet:2729 Okamoto syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:2729 Okamoto syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2729 Okamoto syndrome oboInOwl:hasDbXref MESH:C565736 semapv:UnspecifiedMatching -Orphanet:2729 Okamoto syndrome oboInOwl:hasDbXref OMIM:604916 semapv:UnspecifiedMatching -Orphanet:2729 Okamoto syndrome oboInOwl:hasDbXref icd11:LD2Y semapv:UnspecifiedMatching Orphanet:273 Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:273 Steinert myotonic dystrophy oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:273 Steinert myotonic dystrophy oboInOwl:hasDbXref MESH:C538008 semapv:UnspecifiedMatching @@ -22488,6 +22359,7 @@ Orphanet:2744 Horizontal gaze palsy with progressive scoliosis oboInOwl:hasDbXre Orphanet:2745 Opitz GBBB syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2745 Opitz GBBB syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2745 Opitz GBBB syndrome oboInOwl:hasDbXref OMIM:300000 semapv:UnspecifiedMatching +Orphanet:2745 Opitz GBBB syndrome oboInOwl:hasDbXref UMLS:C2936904 semapv:UnspecifiedMatching Orphanet:2746 Opsismodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:2746 Opsismodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:2746 Opsismodysplasia oboInOwl:hasDbXref MESH:C537122 semapv:UnspecifiedMatching @@ -22514,12 +22386,9 @@ Orphanet:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref MedDRA:10078419 Orphanet:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref OMIM:252100 semapv:UnspecifiedMatching Orphanet:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref UMLS:C0026363 semapv:UnspecifiedMatching Orphanet:2751 Orofaciodigital syndrome type 2 oboInOwl:hasDbXref icd11:LD25.00 semapv:UnspecifiedMatching -Orphanet:2752 Orofaciodigital syndrome type 3 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -Orphanet:2752 Orofaciodigital syndrome type 3 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2752 Orofaciodigital syndrome type 3 oboInOwl:hasDbXref MESH:C557817 semapv:UnspecifiedMatching Orphanet:2752 Orofaciodigital syndrome type 3 oboInOwl:hasDbXref OMIM:258850 semapv:UnspecifiedMatching Orphanet:2752 Orofaciodigital syndrome type 3 oboInOwl:hasDbXref UMLS:C0406726 semapv:UnspecifiedMatching -Orphanet:2752 Orofaciodigital syndrome type 3 oboInOwl:hasDbXref icd11:LD25.00 semapv:UnspecifiedMatching Orphanet:2753 Orofaciodigital syndrome type 4 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2753 Orofaciodigital syndrome type 4 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2753 Orofaciodigital syndrome type 4 oboInOwl:hasDbXref MESH:C537133 semapv:UnspecifiedMatching @@ -22543,11 +22412,11 @@ Orphanet:2755 Orofaciodigital syndrome type 8 oboInOwl:hasDbXref MESH:C557820 se Orphanet:2755 Orofaciodigital syndrome type 8 oboInOwl:hasDbXref OMIM:300484 semapv:UnspecifiedMatching Orphanet:2755 Orofaciodigital syndrome type 8 oboInOwl:hasDbXref UMLS:C0796101 semapv:UnspecifiedMatching Orphanet:2755 Orofaciodigital syndrome type 8 oboInOwl:hasDbXref icd11:LD25.00 semapv:UnspecifiedMatching -Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching -Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching -Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections oboInOwl:hasDbXref OMIM:607271 semapv:UnspecifiedMatching -Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections oboInOwl:hasDbXref UMLS:C1846545 semapv:UnspecifiedMatching -Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections oboInOwl:hasDbXref icd11:4A01.22 semapv:UnspecifiedMatching +Orphanet:275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching +Orphanet:275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching +Orphanet:275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency oboInOwl:hasDbXref OMIM:607271 semapv:UnspecifiedMatching +Orphanet:275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency oboInOwl:hasDbXref UMLS:C1846545 semapv:UnspecifiedMatching +Orphanet:275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency oboInOwl:hasDbXref icd11:4A01.22 semapv:UnspecifiedMatching Orphanet:275523 Dianzani autoimmune lymphoproliferative disease oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching Orphanet:275523 Dianzani autoimmune lymphoproliferative disease oboInOwl:hasDbXref ICD10:D47.9 semapv:UnspecifiedMatching Orphanet:275523 Dianzani autoimmune lymphoproliferative disease oboInOwl:hasDbXref MESH:C535950 semapv:UnspecifiedMatching @@ -22558,6 +22427,7 @@ Orphanet:275543 L1 syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMat Orphanet:275543 L1 syndrome oboInOwl:hasDbXref OMIM:303350 semapv:UnspecifiedMatching Orphanet:275543 L1 syndrome oboInOwl:hasDbXref OMIM:304100 semapv:UnspecifiedMatching Orphanet:275543 L1 syndrome oboInOwl:hasDbXref OMIM:307000 semapv:UnspecifiedMatching +Orphanet:275543 L1 syndrome oboInOwl:hasDbXref UMLS:C5779710 semapv:UnspecifiedMatching Orphanet:275543 L1 syndrome oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.0 semapv:UnspecifiedMatching Orphanet:275555 Preeclampsia oboInOwl:hasDbXref ICD10:O14.0 semapv:UnspecifiedMatching @@ -22578,12 +22448,6 @@ Orphanet:275555 Preeclampsia oboInOwl:hasDbXref UMLS:C0032914 semapv:Unspecified Orphanet:275555 Preeclampsia oboInOwl:hasDbXref icd11:JA24 semapv:UnspecifiedMatching Orphanet:275555 Preeclampsia oboInOwl:hasDbXref icd11:JA24.0 semapv:UnspecifiedMatching Orphanet:275555 Preeclampsia oboInOwl:hasDbXref icd11:JA24.1 semapv:UnspecifiedMatching -Orphanet:2756 Orofaciodigital syndrome type 10 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -Orphanet:2756 Orofaciodigital syndrome type 10 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -Orphanet:2756 Orofaciodigital syndrome type 10 oboInOwl:hasDbXref MESH:C563491 semapv:UnspecifiedMatching -Orphanet:2756 Orofaciodigital syndrome type 10 oboInOwl:hasDbXref OMIM:165590 semapv:UnspecifiedMatching -Orphanet:2756 Orofaciodigital syndrome type 10 oboInOwl:hasDbXref UMLS:C1833796 semapv:UnspecifiedMatching -Orphanet:2756 Orofaciodigital syndrome type 10 oboInOwl:hasDbXref icd11:LD25.00 semapv:UnspecifiedMatching Orphanet:275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia oboInOwl:hasDbXref UMLS:C5679757 semapv:UnspecifiedMatching Orphanet:275736 Rare hemorrhagic disorder due to a qualitative platelet defect oboInOwl:hasDbXref UMLS:C5679758 semapv:UnspecifiedMatching Orphanet:275742 Genetic infertility oboInOwl:hasDbXref UMLS:C5680750 semapv:UnspecifiedMatching @@ -22771,8 +22635,6 @@ Orphanet:276244 Machado-Joseph disease type 3 oboInOwl:hasDbXref ICD10:G11.8 sem Orphanet:276244 Machado-Joseph disease type 3 oboInOwl:hasDbXref OMIM:109150 semapv:UnspecifiedMatching Orphanet:276244 Machado-Joseph disease type 3 oboInOwl:hasDbXref UMLS:C0751670 semapv:UnspecifiedMatching Orphanet:276244 Machado-Joseph disease type 3 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching -Orphanet:276271 NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching -Orphanet:276271 NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia oboInOwl:hasDbXref ICD10:E88.0 semapv:UnspecifiedMatching Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:276280 Hemihyperplasia-multiple lipomatosis syndrome oboInOwl:hasDbXref UMLS:C4749904 semapv:UnspecifiedMatching @@ -22790,6 +22652,7 @@ Orphanet:2764 Osteochondritis dissecans oboInOwl:hasDbXref ICD10:M93.2 semapv:Un Orphanet:2764 Osteochondritis dissecans oboInOwl:hasDbXref MESH:D010008 semapv:UnspecifiedMatching Orphanet:2764 Osteochondritis dissecans oboInOwl:hasDbXref MedDRA:10031231 semapv:UnspecifiedMatching Orphanet:2764 Osteochondritis dissecans oboInOwl:hasDbXref UMLS:C0029421 semapv:UnspecifiedMatching +Orphanet:2764 Osteochondritis dissecans oboInOwl:hasDbXref icd11:FB82.1 semapv:UnspecifiedMatching Orphanet:276405 Hyperbiliverdinemia oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:276405 Hyperbiliverdinemia oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:276405 Hyperbiliverdinemia oboInOwl:hasDbXref OMIM:614156 semapv:UnspecifiedMatching @@ -22805,6 +22668,7 @@ Orphanet:276422 10q22.3q23.3 microduplication syndrome oboInOwl:hasDbXref UMLS:C Orphanet:276422 10q22.3q23.3 microduplication syndrome oboInOwl:hasDbXref icd11:LD41.90 semapv:UnspecifiedMatching Orphanet:276429 Hypnic headache oboInOwl:hasDbXref ICD10:G44.8 semapv:UnspecifiedMatching Orphanet:276429 Hypnic headache oboInOwl:hasDbXref ICD10:G44.8 semapv:UnspecifiedMatching +Orphanet:276429 Hypnic headache oboInOwl:hasDbXref MedDRA:10088606 semapv:UnspecifiedMatching Orphanet:276429 Hypnic headache oboInOwl:hasDbXref UMLS:C0752150 semapv:UnspecifiedMatching Orphanet:276429 Hypnic headache oboInOwl:hasDbXref icd11:8A83 semapv:UnspecifiedMatching Orphanet:276432 Ogden syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching @@ -22920,7 +22784,6 @@ Orphanet:2777 Osteomesopyknosis oboInOwl:hasDbXref icd11:LD24.10 semapv:Unspecif Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome oboInOwl:hasDbXref MESH:C536054 semapv:UnspecifiedMatching -Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome oboInOwl:hasDbXref OMIM:300373 semapv:UnspecifiedMatching Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome oboInOwl:hasDbXref UMLS:C2931096 semapv:UnspecifiedMatching Orphanet:2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:2780 Osteopathia striata-cranial sclerosis syndrome oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching @@ -22971,8 +22834,6 @@ Orphanet:2789 Lateral meningocele syndrome oboInOwl:hasDbXref MESH:C537878 semap Orphanet:2789 Lateral meningocele syndrome oboInOwl:hasDbXref OMIM:130720 semapv:UnspecifiedMatching Orphanet:2789 Lateral meningocele syndrome oboInOwl:hasDbXref UMLS:C1851710 semapv:UnspecifiedMatching Orphanet:2789 Lateral meningocele syndrome oboInOwl:hasDbXref icd11:LA07.Y semapv:UnspecifiedMatching -Orphanet:279 NON RARE IN EUROPE: Age-related macular degeneration oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching -Orphanet:279 NON RARE IN EUROPE: Age-related macular degeneration oboInOwl:hasDbXref ICD10:H35.3 semapv:UnspecifiedMatching Orphanet:2790 Endosteal hyperostosis, Worth type oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:2790 Endosteal hyperostosis, Worth type oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:2790 Endosteal hyperostosis, Worth type oboInOwl:hasDbXref MESH:C536748 semapv:UnspecifiedMatching @@ -22997,17 +22858,10 @@ Orphanet:2793 Otoonychoperoneal syndrome oboInOwl:hasDbXref MESH:C564912 semapv: Orphanet:2793 Otoonychoperoneal syndrome oboInOwl:hasDbXref OMIM:259780 semapv:UnspecifiedMatching Orphanet:2793 Otoonychoperoneal syndrome oboInOwl:hasDbXref UMLS:C1850105 semapv:UnspecifiedMatching Orphanet:2793 Otoonychoperoneal syndrome oboInOwl:hasDbXref icd11:LD27.4 semapv:UnspecifiedMatching -Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.0 semapv:UnspecifiedMatching -Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.0 semapv:UnspecifiedMatching -Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.1 semapv:UnspecifiedMatching -Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.1 semapv:UnspecifiedMatching -Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.2 semapv:UnspecifiedMatching -Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.2 semapv:UnspecifiedMatching -Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.8 semapv:UnspecifiedMatching -Orphanet:2794 NON RARE IN EUROPE: Familial otosclerosis oboInOwl:hasDbXref ICD10:H80.8 semapv:UnspecifiedMatching Orphanet:2795 Fowler urethral sphincter dysfunction syndrome oboInOwl:hasDbXref ICD10:N39.8 semapv:UnspecifiedMatching Orphanet:2795 Fowler urethral sphincter dysfunction syndrome oboInOwl:hasDbXref ICD10:N39.8 semapv:UnspecifiedMatching Orphanet:2795 Fowler urethral sphincter dysfunction syndrome oboInOwl:hasDbXref MESH:C537271 semapv:UnspecifiedMatching +Orphanet:2795 Fowler urethral sphincter dysfunction syndrome oboInOwl:hasDbXref MedDRA:10071718 semapv:UnspecifiedMatching Orphanet:2795 Fowler urethral sphincter dysfunction syndrome oboInOwl:hasDbXref UMLS:C2931462 semapv:UnspecifiedMatching Orphanet:2796 Pachydermoperiostosis oboInOwl:hasDbXref ICD10:M89.4 semapv:UnspecifiedMatching Orphanet:2796 Pachydermoperiostosis oboInOwl:hasDbXref ICD10:M89.4 semapv:UnspecifiedMatching @@ -23189,10 +23043,6 @@ Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref MESH:C537701 semapv:Unsp Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref OMIM:239000 semapv:UnspecifiedMatching Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref UMLS:C0268414 semapv:UnspecifiedMatching Orphanet:2801 Juvenile Paget disease oboInOwl:hasDbXref icd11:FB85.0 semapv:UnspecifiedMatching -Orphanet:280110 NON RARE IN EUROPE: Paget disease of bone oboInOwl:hasDbXref ICD10:M88.0 semapv:UnspecifiedMatching -Orphanet:280110 NON RARE IN EUROPE: Paget disease of bone oboInOwl:hasDbXref ICD10:M88.0 semapv:UnspecifiedMatching -Orphanet:280110 NON RARE IN EUROPE: Paget disease of bone oboInOwl:hasDbXref ICD10:M88.8 semapv:UnspecifiedMatching -Orphanet:280110 NON RARE IN EUROPE: Paget disease of bone oboInOwl:hasDbXref ICD10:M88.8 semapv:UnspecifiedMatching Orphanet:280122 sequestosome 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000161011 semapv:UnspecifiedMatching Orphanet:280122 sequestosome 1 oboInOwl:hasDbXref OMIM:601530 semapv:UnspecifiedMatching Orphanet:280122 sequestosome 1 oboInOwl:hasDbXref uniprot:Q13501 semapv:UnspecifiedMatching @@ -23258,10 +23108,12 @@ Orphanet:280224 Pelizaeus-Merzbacher disease, transitional form oboInOwl:hasDbXr Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers oboInOwl:hasDbXref OMIM:312080 semapv:UnspecifiedMatching +Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers oboInOwl:hasDbXref UMLS:C5438815 semapv:UnspecifiedMatching Orphanet:280229 Pelizaeus-Merzbacher disease in female carriers oboInOwl:hasDbXref icd11:8A44.0 semapv:UnspecifiedMatching Orphanet:280234 Null syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:280234 Null syndrome oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:280234 Null syndrome oboInOwl:hasDbXref OMIM:312080 semapv:UnspecifiedMatching +Orphanet:280234 Null syndrome oboInOwl:hasDbXref UMLS:C5439441 semapv:UnspecifiedMatching Orphanet:280234 Null syndrome oboInOwl:hasDbXref icd11:8A44.0 semapv:UnspecifiedMatching Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:280270 Pelizaeus-Merzbacher-like disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching @@ -23285,9 +23137,11 @@ Orphanet:280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation oboInOwl Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation oboInOwl:hasDbXref OMIM:260600 semapv:UnspecifiedMatching +Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation oboInOwl:hasDbXref UMLS:C5396702 semapv:UnspecifiedMatching Orphanet:280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation oboInOwl:hasDbXref icd11:LD90.2 semapv:UnspecifiedMatching Orphanet:280302 Autoimmune pancreatitis type 1 oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching Orphanet:280302 Autoimmune pancreatitis type 1 oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching +Orphanet:280302 Autoimmune pancreatitis type 1 oboInOwl:hasDbXref UMLS:C4302243 semapv:UnspecifiedMatching Orphanet:280302 Autoimmune pancreatitis type 1 oboInOwl:hasDbXref icd11:DC33 semapv:UnspecifiedMatching Orphanet:280315 Autoimmune pancreatitis type 2 oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching Orphanet:280315 Autoimmune pancreatitis type 2 oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching @@ -23318,6 +23172,8 @@ Orphanet:280373 Rare pediatric systemic disease oboInOwl:hasDbXref UMLS:C5680784 Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching Orphanet:280379 Erythropoietic uroporphyria associated with myeloid malignancy oboInOwl:hasDbXref UMLS:C5191004 semapv:UnspecifiedMatching +Orphanet:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome oboInOwl:hasDbXref UMLS:C4749580 semapv:UnspecifiedMatching Orphanet:280390 ER lipid raft associated 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000147475 semapv:UnspecifiedMatching Orphanet:280390 ER lipid raft associated 2 oboInOwl:hasDbXref OMIM:611605 semapv:UnspecifiedMatching @@ -23427,10 +23283,7 @@ Orphanet:280654 Autosomal recessive nail dysplasia oboInOwl:hasDbXref UMLS:C5190 Orphanet:280659 frizzled class receptor 6 oboInOwl:hasDbXref ENSEMBL:ENSG00000164930 semapv:UnspecifiedMatching Orphanet:280659 frizzled class receptor 6 oboInOwl:hasDbXref OMIM:603409 semapv:UnspecifiedMatching Orphanet:280659 frizzled class receptor 6 oboInOwl:hasDbXref uniprot:O60353 semapv:UnspecifiedMatching -Orphanet:280663 Hermansky-Pudlak syndrome type 9 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -Orphanet:280663 Hermansky-Pudlak syndrome type 9 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:280663 Hermansky-Pudlak syndrome type 9 oboInOwl:hasDbXref OMIM:614171 semapv:UnspecifiedMatching -Orphanet:280663 Hermansky-Pudlak syndrome type 9 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching Orphanet:280669 biogenesis of lysosomal organelles complex 1 subunit 6 oboInOwl:hasDbXref ENSEMBL:ENSG00000104164 semapv:UnspecifiedMatching Orphanet:280669 biogenesis of lysosomal organelles complex 1 subunit 6 oboInOwl:hasDbXref OMIM:604310 semapv:UnspecifiedMatching Orphanet:280669 biogenesis of lysosomal organelles complex 1 subunit 6 oboInOwl:hasDbXref uniprot:Q9UL45 semapv:UnspecifiedMatching @@ -23532,16 +23385,6 @@ Orphanet:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref MESH Orphanet:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref OMIM:134200 semapv:UnspecifiedMatching Orphanet:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref UMLS:C1851399 semapv:UnspecifiedMatching Orphanet:2809 Familial recurrent peripheral facial palsy oboInOwl:hasDbXref icd11:8B88.0 semapv:UnspecifiedMatching -Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.0 semapv:UnspecifiedMatching -Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.0 semapv:UnspecifiedMatching -Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.1 semapv:UnspecifiedMatching -Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.1 semapv:UnspecifiedMatching -Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.2 semapv:UnspecifiedMatching -Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.2 semapv:UnspecifiedMatching -Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.8 semapv:UnspecifiedMatching -Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.8 semapv:UnspecifiedMatching -Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.9 semapv:UnspecifiedMatching -Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis oboInOwl:hasDbXref ICD10:H20.9 semapv:UnspecifiedMatching Orphanet:280917 Idiopathic posterior uveitis oboInOwl:hasDbXref ICD10:H30.9 semapv:UnspecifiedMatching Orphanet:280917 Idiopathic posterior uveitis oboInOwl:hasDbXref ICD10:H30.9 semapv:UnspecifiedMatching Orphanet:280917 Idiopathic posterior uveitis oboInOwl:hasDbXref UMLS:C4751435 semapv:UnspecifiedMatching @@ -23568,6 +23411,7 @@ Orphanet:281090 Syndromic recessive X-linked ichthyosis oboInOwl:hasDbXref ICD10 Orphanet:281090 Syndromic recessive X-linked ichthyosis oboInOwl:hasDbXref ICD10:Q80.1 semapv:UnspecifiedMatching Orphanet:281090 Syndromic recessive X-linked ichthyosis oboInOwl:hasDbXref OMIM:308100 semapv:UnspecifiedMatching Orphanet:281090 Syndromic recessive X-linked ichthyosis oboInOwl:hasDbXref UMLS:C4274085 semapv:UnspecifiedMatching +Orphanet:281097 Autosomal recessive congenital ichthyosis oboInOwl:hasDbXref UMLS:C1274215 semapv:UnspecifiedMatching Orphanet:281097 Autosomal recessive congenital ichthyosis oboInOwl:hasDbXref icd11:EC20.02 semapv:UnspecifiedMatching Orphanet:281103 Keratinopathic ichthyosis oboInOwl:hasDbXref UMLS:C4511307 semapv:UnspecifiedMatching Orphanet:281103 Keratinopathic ichthyosis oboInOwl:hasDbXref icd11:EC20.03 semapv:UnspecifiedMatching @@ -23738,13 +23582,12 @@ Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:615528 semap Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref OMIM:616840 semapv:UnspecifiedMatching Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref UMLS:C4275179 semapv:UnspecifiedMatching Orphanet:2828 Young-onset Parkinson disease oboInOwl:hasDbXref icd11:8A00.00 semapv:UnspecifiedMatching -Orphanet:2829 Partington-Anderson syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:2829 Partington-Anderson syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:2829 Partington-Anderson syndrome oboInOwl:hasDbXref MESH:C536299 semapv:UnspecifiedMatching Orphanet:2829 Partington-Anderson syndrome oboInOwl:hasDbXref OMIM:260555 semapv:UnspecifiedMatching Orphanet:2829 Partington-Anderson syndrome oboInOwl:hasDbXref UMLS:C1850075 semapv:UnspecifiedMatching Orphanet:283 Demodicidosis oboInOwl:hasDbXref ICD10:B88.0 semapv:UnspecifiedMatching Orphanet:283 Demodicidosis oboInOwl:hasDbXref ICD10:B88.0 semapv:UnspecifiedMatching +Orphanet:283 Demodicidosis oboInOwl:hasDbXref MedDRA:10075310 semapv:UnspecifiedMatching Orphanet:283 Demodicidosis oboInOwl:hasDbXref UMLS:C0392666 semapv:UnspecifiedMatching Orphanet:283 Demodicidosis oboInOwl:hasDbXref icd11:1G07.0 semapv:UnspecifiedMatching Orphanet:2831 Rhizomelic dysplasia, Patterson-Lowry type oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching @@ -23784,8 +23627,6 @@ Orphanet:2836 PEHO syndrome oboInOwl:hasDbXref MedDRA:10086607 semapv:Unspecifie Orphanet:2836 PEHO syndrome oboInOwl:hasDbXref OMIM:260565 semapv:UnspecifiedMatching Orphanet:2836 PEHO syndrome oboInOwl:hasDbXref UMLS:C1850055 semapv:UnspecifiedMatching Orphanet:2836 PEHO syndrome oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching -Orphanet:2837 Pellagra-like skin rash-neurological manifestations syndrome oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching -Orphanet:2837 Pellagra-like skin rash-neurological manifestations syndrome oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching Orphanet:2837 Pellagra-like skin rash-neurological manifestations syndrome oboInOwl:hasDbXref OMIM:260650 semapv:UnspecifiedMatching Orphanet:28378 Tyrosinemia type 2 oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching Orphanet:28378 Tyrosinemia type 2 oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching @@ -23819,17 +23660,15 @@ Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome oboInOwl:h Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome oboInOwl:hasDbXref MESH:C535292 semapv:UnspecifiedMatching Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome oboInOwl:hasDbXref OMIM:602484 semapv:UnspecifiedMatching Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome oboInOwl:hasDbXref UMLS:C2930869 semapv:UnspecifiedMatching -Orphanet:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -Orphanet:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -Orphanet:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref MESH:D016506 semapv:UnspecifiedMatching -Orphanet:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref OMIM:169600 semapv:UnspecifiedMatching -Orphanet:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref UMLS:C0085106 semapv:UnspecifiedMatching -Orphanet:2841 Familial benign chronic pemphigus oboInOwl:hasDbXref icd11:EC20.2 semapv:UnspecifiedMatching +Orphanet:2841 Hailey-Hailey disease oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2841 Hailey-Hailey disease oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching +Orphanet:2841 Hailey-Hailey disease oboInOwl:hasDbXref MESH:D016506 semapv:UnspecifiedMatching +Orphanet:2841 Hailey-Hailey disease oboInOwl:hasDbXref OMIM:169600 semapv:UnspecifiedMatching +Orphanet:2841 Hailey-Hailey disease oboInOwl:hasDbXref UMLS:C0085106 semapv:UnspecifiedMatching +Orphanet:2841 Hailey-Hailey disease oboInOwl:hasDbXref icd11:EC20.2 semapv:UnspecifiedMatching Orphanet:284116 inosine triphosphatase oboInOwl:hasDbXref ENSEMBL:ENSG00000125877 semapv:UnspecifiedMatching Orphanet:284116 inosine triphosphatase oboInOwl:hasDbXref OMIM:147520 semapv:UnspecifiedMatching Orphanet:284116 inosine triphosphatase oboInOwl:hasDbXref uniprot:Q9BY32 semapv:UnspecifiedMatching -Orphanet:284130 NON RARE IN EUROPE: Rheumatoid arthritis oboInOwl:hasDbXref ICD10:M05.0 semapv:UnspecifiedMatching -Orphanet:284130 NON RARE IN EUROPE: Rheumatoid arthritis oboInOwl:hasDbXref ICD10:M05.0 semapv:UnspecifiedMatching Orphanet:284139 Larsen-like syndrome, B3GAT3 type oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:284139 Larsen-like syndrome, B3GAT3 type oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:284139 Larsen-like syndrome, B3GAT3 type oboInOwl:hasDbXref OMIM:245600 semapv:UnspecifiedMatching @@ -23852,6 +23691,7 @@ Orphanet:284160 8q21.11 microdeletion syndrome oboInOwl:hasDbXref icd11:LD44.80 Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion oboInOwl:hasDbXref OMIM:616708 semapv:UnspecifiedMatching +Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion oboInOwl:hasDbXref UMLS:C5190804 semapv:UnspecifiedMatching Orphanet:284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion oboInOwl:hasDbXref icd11:LD44.A1 semapv:UnspecifiedMatching Orphanet:284180 Xp22.13p22.2 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:284180 Xp22.13p22.2 duplication syndrome oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching @@ -23865,6 +23705,7 @@ Orphanet:2842 Penoscrotal transposition oboInOwl:hasDbXref UMLS:C1868854 semapv: Orphanet:2842 Penoscrotal transposition oboInOwl:hasDbXref icd11:LB5Y semapv:UnspecifiedMatching Orphanet:284227 TEMPI syndrome oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching Orphanet:284227 TEMPI syndrome oboInOwl:hasDbXref ICD10:D75.1 semapv:UnspecifiedMatching +Orphanet:284227 TEMPI syndrome oboInOwl:hasDbXref MedDRA:10075076 semapv:UnspecifiedMatching Orphanet:284227 TEMPI syndrome oboInOwl:hasDbXref UMLS:C3854394 semapv:UnspecifiedMatching Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching @@ -24040,6 +23881,7 @@ Orphanet:2849 Perlman syndrome oboInOwl:hasDbXref icd11:2C90.Y semapv:Unspecifie Orphanet:284963 Marfan syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching Orphanet:284963 Marfan syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching Orphanet:284963 Marfan syndrome type 1 oboInOwl:hasDbXref OMIM:154700 semapv:UnspecifiedMatching +Orphanet:284963 Marfan syndrome type 1 oboInOwl:hasDbXref UMLS:C4721845 semapv:UnspecifiedMatching Orphanet:284963 Marfan syndrome type 1 oboInOwl:hasDbXref icd11:LD28.01 semapv:UnspecifiedMatching Orphanet:284973 Marfan syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching Orphanet:284973 Marfan syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching @@ -24264,12 +24106,6 @@ Orphanet:2876 PHAVER syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedM Orphanet:2876 PHAVER syndrome oboInOwl:hasDbXref MESH:C538357 semapv:UnspecifiedMatching Orphanet:2876 PHAVER syndrome oboInOwl:hasDbXref OMIM:261575 semapv:UnspecifiedMatching Orphanet:2876 PHAVER syndrome oboInOwl:hasDbXref UMLS:C1849928 semapv:UnspecifiedMatching -Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oboInOwl:hasDbXref MESH:C537498 semapv:UnspecifiedMatching -Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oboInOwl:hasDbXref OMIM:171480 semapv:UnspecifiedMatching -Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oboInOwl:hasDbXref UMLS:C1868390 semapv:UnspecifiedMatching -Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:2879 Phocomelia, Schinzel type oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2879 Phocomelia, Schinzel type oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:2879 Phocomelia, Schinzel type oboInOwl:hasDbXref MESH:C535612 semapv:UnspecifiedMatching @@ -24313,6 +24149,8 @@ Orphanet:2884 Piebaldism oboInOwl:hasDbXref MedDRA:10084262 semapv:UnspecifiedMa Orphanet:2884 Piebaldism oboInOwl:hasDbXref OMIM:172800 semapv:UnspecifiedMatching Orphanet:2884 Piebaldism oboInOwl:hasDbXref UMLS:C0080024 semapv:UnspecifiedMatching Orphanet:2884 Piebaldism oboInOwl:hasDbXref icd11:EC23.2Y semapv:UnspecifiedMatching +Orphanet:2885 Piebald trait-neurologic defects syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching +Orphanet:2885 Piebald trait-neurologic defects syndrome oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:2885 Piebald trait-neurologic defects syndrome oboInOwl:hasDbXref MESH:C536955 semapv:UnspecifiedMatching Orphanet:2885 Piebald trait-neurologic defects syndrome oboInOwl:hasDbXref OMIM:172850 semapv:UnspecifiedMatching Orphanet:2885 Piebald trait-neurologic defects syndrome oboInOwl:hasDbXref UMLS:C1868311 semapv:UnspecifiedMatching @@ -24460,8 +24298,6 @@ Orphanet:289390 Primary Sjögren syndrome oboInOwl:hasDbXref ICD10:M35.0 semapv: Orphanet:289390 Primary Sjögren syndrome oboInOwl:hasDbXref OMIM:270150 semapv:UnspecifiedMatching Orphanet:289390 Primary Sjögren syndrome oboInOwl:hasDbXref UMLS:C0151449 semapv:UnspecifiedMatching Orphanet:289390 Primary Sjögren syndrome oboInOwl:hasDbXref icd11:4A43.20 semapv:UnspecifiedMatching -Orphanet:289395 NON RARE IN EUROPE: Secondary Sjögren syndrome oboInOwl:hasDbXref ICD10:M35.0 semapv:UnspecifiedMatching -Orphanet:289395 NON RARE IN EUROPE: Secondary Sjögren syndrome oboInOwl:hasDbXref ICD10:M35.0 semapv:UnspecifiedMatching Orphanet:289465 Isolated congenital adermatoglyphia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:289465 Isolated congenital adermatoglyphia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:289465 Isolated congenital adermatoglyphia oboInOwl:hasDbXref OMIM:136000 semapv:UnspecifiedMatching @@ -24471,7 +24307,10 @@ Orphanet:289472 SWI/SNF-related, matrix-associated actin-dependent regulator of Orphanet:289472 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 oboInOwl:hasDbXref uniprot:Q9H4L7 semapv:UnspecifiedMatching Orphanet:289478 PASH syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:289478 PASH syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:289478 PASH syndrome oboInOwl:hasDbXref MedDRA:10084535 semapv:UnspecifiedMatching Orphanet:289478 PASH syndrome oboInOwl:hasDbXref UMLS:C5191642 semapv:UnspecifiedMatching +Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome oboInOwl:hasDbXref ICD10:H04.8 semapv:UnspecifiedMatching +Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome oboInOwl:hasDbXref ICD10:H04.8 semapv:UnspecifiedMatching Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome oboInOwl:hasDbXref OMIM:300858 semapv:UnspecifiedMatching Orphanet:289483 Intellectual disability-alacrima-achalasia syndrome oboInOwl:hasDbXref UMLS:C4706563 semapv:UnspecifiedMatching Orphanet:289488 prolyl 3-hydroxylase 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000090530 semapv:UnspecifiedMatching @@ -24569,10 +24408,10 @@ Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative diso Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder oboInOwl:hasDbXref UMLS:C2363744 semapv:UnspecifiedMatching Orphanet:289651 Epstein-Barr Virus-associated carcinoma oboInOwl:hasDbXref UMLS:C5679940 semapv:UnspecifiedMatching Orphanet:289656 Epstein-Barr Virus-associated mesenchymal tumor oboInOwl:hasDbXref UMLS:C5679941 semapv:UnspecifiedMatching -Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching -Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching -Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oboInOwl:hasDbXref UMLS:C2700007 semapv:UnspecifiedMatching -Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly oboInOwl:hasDbXref icd11:2A81.6 semapv:UnspecifiedMatching +Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching +Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma oboInOwl:hasDbXref UMLS:C2700007 semapv:UnspecifiedMatching +Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma oboInOwl:hasDbXref icd11:2A81.6 semapv:UnspecifiedMatching Orphanet:289666 Plasmablastic lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching Orphanet:289666 Plasmablastic lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching Orphanet:289666 Plasmablastic lymphoma oboInOwl:hasDbXref MESH:D000069293 semapv:UnspecifiedMatching @@ -24584,6 +24423,7 @@ Orphanet:289682 Lymphoepithelial-like carcinoma oboInOwl:hasDbXref ICD10:C80.9 s Orphanet:289685 Myopericytoma oboInOwl:hasDbXref ICD10:D21.9 semapv:UnspecifiedMatching Orphanet:289685 Myopericytoma oboInOwl:hasDbXref ICD10:D21.9 semapv:UnspecifiedMatching Orphanet:289685 Myopericytoma oboInOwl:hasDbXref MESH:D000077777 semapv:UnspecifiedMatching +Orphanet:289685 Myopericytoma oboInOwl:hasDbXref MedDRA:10083440 semapv:UnspecifiedMatching Orphanet:289685 Myopericytoma oboInOwl:hasDbXref UMLS:C1302808 semapv:UnspecifiedMatching Orphanet:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref ICD10:L44.0 semapv:UnspecifiedMatching Orphanet:2897 Pityriasis rubra pilaris oboInOwl:hasDbXref ICD10:L44.0 semapv:UnspecifiedMatching @@ -24598,9 +24438,11 @@ Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome oboInOwl:h Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome oboInOwl:hasDbXref OMIM:300064 semapv:UnspecifiedMatching Orphanet:2898 X-linked intellectual disability-plagiocephaly syndrome oboInOwl:hasDbXref UMLS:C2931516 semapv:UnspecifiedMatching Orphanet:289825 Late-onset primary lymphedema without systemic or visceral involvement oboInOwl:hasDbXref UMLS:C5681007 semapv:UnspecifiedMatching +Orphanet:289829 Disorder of tryptophan metabolism oboInOwl:hasDbXref UMLS:C0041254 semapv:UnspecifiedMatching Orphanet:289829 Disorder of tryptophan metabolism oboInOwl:hasDbXref icd11:5C50.3 semapv:UnspecifiedMatching Orphanet:289832 Disorder of lysine and hydroxylysine metabolism oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching Orphanet:289832 Disorder of lysine and hydroxylysine metabolism oboInOwl:hasDbXref ICD10:E72.3 semapv:UnspecifiedMatching +Orphanet:289832 Disorder of lysine and hydroxylysine metabolism oboInOwl:hasDbXref UMLS:C0268552 semapv:UnspecifiedMatching Orphanet:289832 Disorder of lysine and hydroxylysine metabolism oboInOwl:hasDbXref icd11:5C50.4 semapv:UnspecifiedMatching Orphanet:289841 Disorder of glutamine metabolism oboInOwl:hasDbXref UMLS:C0342669 semapv:UnspecifiedMatching Orphanet:289846 Glutathione synthetase deficiency with 5-oxoprolinuria oboInOwl:hasDbXref ICD10:D55.1 semapv:UnspecifiedMatching @@ -24806,9 +24648,9 @@ Orphanet:291703 proline rich transmembrane protein 2 oboInOwl:hasDbXref uniprot: Orphanet:291751 distal-less homeobox 5 oboInOwl:hasDbXref ENSEMBL:ENSG00000105880 semapv:UnspecifiedMatching Orphanet:291751 distal-less homeobox 5 oboInOwl:hasDbXref OMIM:600028 semapv:UnspecifiedMatching Orphanet:291751 distal-less homeobox 5 oboInOwl:hasDbXref uniprot:P56178 semapv:UnspecifiedMatching -Orphanet:291794 ATP binding cassette subfamily B member 6 (Langereis blood group) oboInOwl:hasDbXref ENSEMBL:ENSG00000115657 semapv:UnspecifiedMatching -Orphanet:291794 ATP binding cassette subfamily B member 6 (Langereis blood group) oboInOwl:hasDbXref OMIM:605452 semapv:UnspecifiedMatching -Orphanet:291794 ATP binding cassette subfamily B member 6 (Langereis blood group) oboInOwl:hasDbXref uniprot:Q9NP58 semapv:UnspecifiedMatching +Orphanet:291794 ATP binding cassette subfamily B member 6 (LAN blood group) oboInOwl:hasDbXref ENSEMBL:ENSG00000115657 semapv:UnspecifiedMatching +Orphanet:291794 ATP binding cassette subfamily B member 6 (LAN blood group) oboInOwl:hasDbXref OMIM:605452 semapv:UnspecifiedMatching +Orphanet:291794 ATP binding cassette subfamily B member 6 (LAN blood group) oboInOwl:hasDbXref uniprot:Q9NP58 semapv:UnspecifiedMatching Orphanet:291802 receptor interacting serine/threonine kinase 4 oboInOwl:hasDbXref ENSEMBL:ENSG00000183421 semapv:UnspecifiedMatching Orphanet:291802 receptor interacting serine/threonine kinase 4 oboInOwl:hasDbXref OMIM:605706 semapv:UnspecifiedMatching Orphanet:291802 receptor interacting serine/threonine kinase 4 oboInOwl:hasDbXref uniprot:P57078 semapv:UnspecifiedMatching @@ -24827,9 +24669,9 @@ Orphanet:291843 cytochrome c oxidase assembly factor COX14 oboInOwl:hasDbXref un Orphanet:291853 GATA binding protein 6 oboInOwl:hasDbXref ENSEMBL:ENSG00000141448 semapv:UnspecifiedMatching Orphanet:291853 GATA binding protein 6 oboInOwl:hasDbXref OMIM:601656 semapv:UnspecifiedMatching Orphanet:291853 GATA binding protein 6 oboInOwl:hasDbXref uniprot:Q92908 semapv:UnspecifiedMatching -Orphanet:291856 deoxyribonuclease 1 like 3 oboInOwl:hasDbXref ENSEMBL:ENSG00000163687 semapv:UnspecifiedMatching -Orphanet:291856 deoxyribonuclease 1 like 3 oboInOwl:hasDbXref OMIM:602244 semapv:UnspecifiedMatching -Orphanet:291856 deoxyribonuclease 1 like 3 oboInOwl:hasDbXref uniprot:Q13609 semapv:UnspecifiedMatching +Orphanet:291856 deoxyribonuclease 1L3 oboInOwl:hasDbXref ENSEMBL:ENSG00000163687 semapv:UnspecifiedMatching +Orphanet:291856 deoxyribonuclease 1L3 oboInOwl:hasDbXref OMIM:602244 semapv:UnspecifiedMatching +Orphanet:291856 deoxyribonuclease 1L3 oboInOwl:hasDbXref uniprot:Q13609 semapv:UnspecifiedMatching Orphanet:2919 Orofaciodigital syndrome type 5 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2919 Orofaciodigital syndrome type 5 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:2919 Orofaciodigital syndrome type 5 oboInOwl:hasDbXref MESH:C557819 semapv:UnspecifiedMatching @@ -25010,7 +24852,6 @@ Orphanet:293150 Familial clubfoot due to PITX1 point mutation oboInOwl:hasDbXref Orphanet:293150 Familial clubfoot due to PITX1 point mutation oboInOwl:hasDbXref icd11:LB98.Y semapv:UnspecifiedMatching Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref OMIM:607655 semapv:UnspecifiedMatching Orphanet:293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome oboInOwl:hasDbXref UMLS:C4755263 semapv:UnspecifiedMatching Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:293168 Infantile-onset ascending hereditary spastic paralysis oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching @@ -25048,6 +24889,7 @@ Orphanet:293202 Epithelioid sarcoma oboInOwl:hasDbXref icd11:2B5F.2 semapv:Unspe Orphanet:293202 Epithelioid sarcoma oboInOwl:hasDbXref icd11:XH4F96 semapv:UnspecifiedMatching Orphanet:293208 Celiac artery compression syndrome oboInOwl:hasDbXref ICD10:I77.4 semapv:UnspecifiedMatching Orphanet:293208 Celiac artery compression syndrome oboInOwl:hasDbXref ICD10:I77.4 semapv:UnspecifiedMatching +Orphanet:293208 Celiac artery compression syndrome oboInOwl:hasDbXref MedDRA:10009838 semapv:UnspecifiedMatching Orphanet:293208 Celiac artery compression syndrome oboInOwl:hasDbXref UMLS:C1861783 semapv:UnspecifiedMatching Orphanet:293208 Celiac artery compression syndrome oboInOwl:hasDbXref icd11:BD52.5 semapv:UnspecifiedMatching Orphanet:293284 Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching @@ -25109,6 +24951,7 @@ Orphanet:293633 PYCR1-related De Barsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 s Orphanet:293633 PYCR1-related De Barsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:293633 PYCR1-related De Barsy syndrome oboInOwl:hasDbXref OMIM:614438 semapv:UnspecifiedMatching Orphanet:293633 PYCR1-related De Barsy syndrome oboInOwl:hasDbXref UMLS:C5679934 semapv:UnspecifiedMatching +Orphanet:293642 Blepharophimosis-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C5229849 semapv:UnspecifiedMatching Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:293707 Blepharophimosis-intellectual disability syndrome, MKB type oboInOwl:hasDbXref OMIM:300895 semapv:UnspecifiedMatching @@ -25135,9 +24978,6 @@ Orphanet:293825 Congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref I Orphanet:293825 Congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref OMIM:613673 semapv:UnspecifiedMatching Orphanet:293825 Congenital dyserythropoietic anemia type IV oboInOwl:hasDbXref UMLS:C3150926 semapv:UnspecifiedMatching Orphanet:293830 Constitutional dyserythropoietic anemia oboInOwl:hasDbXref UMLS:C5680998 semapv:UnspecifiedMatching -Orphanet:293830 Constitutional dyserythropoietic anemia oboInOwl:hasDbXref icd11:3A73 semapv:UnspecifiedMatching -Orphanet:293838 Fatal infantile encephalopathy-pulmonary hypertension syndrome oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching -Orphanet:293838 Fatal infantile encephalopathy-pulmonary hypertension syndrome oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching Orphanet:293843 3MC syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:293843 3MC syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:293843 3MC syndrome oboInOwl:hasDbXref OMIM:248340 semapv:UnspecifiedMatching @@ -25145,8 +24985,6 @@ Orphanet:293843 3MC syndrome oboInOwl:hasDbXref OMIM:257920 semapv:UnspecifiedMa Orphanet:293843 3MC syndrome oboInOwl:hasDbXref OMIM:265050 semapv:UnspecifiedMatching Orphanet:293843 3MC syndrome oboInOwl:hasDbXref UMLS:C4303860 semapv:UnspecifiedMatching Orphanet:293843 3MC syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching -Orphanet:293848 Frontotemporal dementia, right temporal atrophy variant oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching -Orphanet:293848 Frontotemporal dementia, right temporal atrophy variant oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching Orphanet:293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome oboInOwl:hasDbXref OMIM:615710 semapv:UnspecifiedMatching @@ -25214,6 +25052,7 @@ Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficie Orphanet:293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome oboInOwl:hasDbXref UMLS:C4751122 semapv:UnspecifiedMatching Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oboInOwl:hasDbXref MedDRA:10081396 semapv:UnspecifiedMatching Orphanet:293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome oboInOwl:hasDbXref UMLS:C4751121 semapv:UnspecifiedMatching Orphanet:294 Fetal cytomegalovirus syndrome oboInOwl:hasDbXref ICD10:P35.1 semapv:UnspecifiedMatching Orphanet:294 Fetal cytomegalovirus syndrome oboInOwl:hasDbXref ICD10:P35.1 semapv:UnspecifiedMatching @@ -25241,8 +25080,6 @@ Orphanet:294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication obo Orphanet:294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication oboInOwl:hasDbXref OMIM:613681 semapv:UnspecifiedMatching Orphanet:294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication oboInOwl:hasDbXref UMLS:C5190993 semapv:UnspecifiedMatching -Orphanet:294049 Reunion Island Larsen-like syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching -Orphanet:294049 Reunion Island Larsen-like syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:294057 Rare nevus oboInOwl:hasDbXref UMLS:C5680997 semapv:UnspecifiedMatching Orphanet:294060 Multiple pterygium syndrome oboInOwl:hasDbXref MESH:C537377 semapv:UnspecifiedMatching Orphanet:294060 Multiple pterygium syndrome oboInOwl:hasDbXref UMLS:C0265261 semapv:UnspecifiedMatching @@ -25286,17 +25123,19 @@ Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome oboInOwl:hasDbXre Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome oboInOwl:hasDbXref OMIM:190680 semapv:UnspecifiedMatching Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome oboInOwl:hasDbXref UMLS:C1860804 semapv:UnspecifiedMatching Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome oboInOwl:hasDbXref icd11:LD26.2 semapv:UnspecifiedMatching -Orphanet:294925 Amelia oboInOwl:hasDbXref ICD10:Q73.0 semapv:UnspecifiedMatching -Orphanet:294925 Amelia oboInOwl:hasDbXref ICD10:Q73.0 semapv:UnspecifiedMatching -Orphanet:294925 Amelia oboInOwl:hasDbXref MedDRA:10001926 semapv:UnspecifiedMatching -Orphanet:294925 Amelia oboInOwl:hasDbXref UMLS:C0002447 semapv:UnspecifiedMatching -Orphanet:294927 Intercalary limb defects oboInOwl:hasDbXref UMLS:C5679931 semapv:UnspecifiedMatching +Orphanet:294925 Non-syndromic amelia oboInOwl:hasDbXref ICD10:Q73.0 semapv:UnspecifiedMatching +Orphanet:294925 Non-syndromic amelia oboInOwl:hasDbXref ICD10:Q73.0 semapv:UnspecifiedMatching +Orphanet:294925 Non-syndromic amelia oboInOwl:hasDbXref MedDRA:10001926 semapv:UnspecifiedMatching +Orphanet:294925 Non-syndromic amelia oboInOwl:hasDbXref UMLS:C0002447 semapv:UnspecifiedMatching +Orphanet:294927 Non-syndromic intercalary limb defects oboInOwl:hasDbXref UMLS:C5679931 semapv:UnspecifiedMatching Orphanet:294944 Congenital deformities of limbs oboInOwl:hasDbXref MESH:D017880 semapv:UnspecifiedMatching Orphanet:294944 Congenital deformities of limbs oboInOwl:hasDbXref MedDRA:10024500 semapv:UnspecifiedMatching Orphanet:294944 Congenital deformities of limbs oboInOwl:hasDbXref UMLS:C0206762 semapv:UnspecifiedMatching -Orphanet:294949 Joint formation defects oboInOwl:hasDbXref UMLS:C5680994 semapv:UnspecifiedMatching -Orphanet:294949 Joint formation defects oboInOwl:hasDbXref icd11:LB90 semapv:UnspecifiedMatching -Orphanet:294953 Non syndromic limb overgrowth oboInOwl:hasDbXref UMLS:C5680996 semapv:UnspecifiedMatching +Orphanet:294947 Congenital deformities of fingers oboInOwl:hasDbXref UMLS:C0265605 semapv:UnspecifiedMatching +Orphanet:294949 Non-syndromic joint formation defects oboInOwl:hasDbXref UMLS:C5680994 semapv:UnspecifiedMatching +Orphanet:294949 Non-syndromic joint formation defects oboInOwl:hasDbXref icd11:LB90 semapv:UnspecifiedMatching +Orphanet:294951 Congenital joint dislocations oboInOwl:hasDbXref UMLS:C5437774 semapv:UnspecifiedMatching +Orphanet:294953 Non-syndromic limb overgrowth oboInOwl:hasDbXref UMLS:C5680996 semapv:UnspecifiedMatching Orphanet:294955 Syndrome with limb reduction defects oboInOwl:hasDbXref UMLS:C5680995 semapv:UnspecifiedMatching Orphanet:294957 Dysostosis with combined reduction defects of upper and lower limbs oboInOwl:hasDbXref UMLS:C5681000 semapv:UnspecifiedMatching Orphanet:294957 Dysostosis with combined reduction defects of upper and lower limbs oboInOwl:hasDbXref icd11:LD26.0 semapv:UnspecifiedMatching @@ -25305,70 +25144,67 @@ Orphanet:294959 Syndrome with limb duplication, polydactyly, syndactyly, and/or Orphanet:294963 Popliteal pterygium syndrome oboInOwl:hasDbXref MESH:C562509 semapv:UnspecifiedMatching Orphanet:294963 Popliteal pterygium syndrome oboInOwl:hasDbXref MedDRA:10079892 semapv:UnspecifiedMatching Orphanet:294963 Popliteal pterygium syndrome oboInOwl:hasDbXref UMLS:C0265259 semapv:UnspecifiedMatching -Orphanet:294967 Amelia of upper limb oboInOwl:hasDbXref ICD10:Q71.0 semapv:UnspecifiedMatching -Orphanet:294967 Amelia of upper limb oboInOwl:hasDbXref ICD10:Q71.0 semapv:UnspecifiedMatching -Orphanet:294967 Amelia of upper limb oboInOwl:hasDbXref UMLS:C0265570 semapv:UnspecifiedMatching -Orphanet:294967 Amelia of upper limb oboInOwl:hasDbXref icd11:LB99.0 semapv:UnspecifiedMatching -Orphanet:294969 Amelia of lower limb oboInOwl:hasDbXref ICD10:Q72.0 semapv:UnspecifiedMatching -Orphanet:294969 Amelia of lower limb oboInOwl:hasDbXref ICD10:Q72.0 semapv:UnspecifiedMatching -Orphanet:294969 Amelia of lower limb oboInOwl:hasDbXref UMLS:C0265621 semapv:UnspecifiedMatching -Orphanet:294969 Amelia of lower limb oboInOwl:hasDbXref icd11:LB9A.0 semapv:UnspecifiedMatching -Orphanet:294971 Tetra-amelia oboInOwl:hasDbXref ICD10:Q73.0 semapv:UnspecifiedMatching -Orphanet:294971 Tetra-amelia oboInOwl:hasDbXref ICD10:Q73.0 semapv:UnspecifiedMatching -Orphanet:294971 Tetra-amelia oboInOwl:hasDbXref MESH:C536498 semapv:UnspecifiedMatching -Orphanet:294971 Tetra-amelia oboInOwl:hasDbXref icd11:LB9B semapv:UnspecifiedMatching -Orphanet:294973 Humeral agenesis/hypoplasia oboInOwl:hasDbXref ICD10:Q71.8 semapv:UnspecifiedMatching -Orphanet:294973 Humeral agenesis/hypoplasia oboInOwl:hasDbXref ICD10:Q71.8 semapv:UnspecifiedMatching -Orphanet:294973 Humeral agenesis/hypoplasia oboInOwl:hasDbXref UMLS:C0685375 semapv:UnspecifiedMatching -Orphanet:294973 Humeral agenesis/hypoplasia oboInOwl:hasDbXref icd11:LB99.1 semapv:UnspecifiedMatching -Orphanet:294975 Congenital absence of upper arm and forearm with hand present oboInOwl:hasDbXref ICD10:Q71.1 semapv:UnspecifiedMatching -Orphanet:294975 Congenital absence of upper arm and forearm with hand present oboInOwl:hasDbXref ICD10:Q71.1 semapv:UnspecifiedMatching -Orphanet:294975 Congenital absence of upper arm and forearm with hand present oboInOwl:hasDbXref UMLS:C0265574 semapv:UnspecifiedMatching -Orphanet:294975 Congenital absence of upper arm and forearm with hand present oboInOwl:hasDbXref icd11:LB99.4 semapv:UnspecifiedMatching -Orphanet:294977 Congenital absence of thigh and lower leg with foot present oboInOwl:hasDbXref ICD10:Q72.1 semapv:UnspecifiedMatching -Orphanet:294977 Congenital absence of thigh and lower leg with foot present oboInOwl:hasDbXref ICD10:Q72.1 semapv:UnspecifiedMatching -Orphanet:294977 Congenital absence of thigh and lower leg with foot present oboInOwl:hasDbXref UMLS:C0265626 semapv:UnspecifiedMatching -Orphanet:294977 Congenital absence of thigh and lower leg with foot present oboInOwl:hasDbXref icd11:LB9A.3 semapv:UnspecifiedMatching -Orphanet:294979 Congenital absence of both forearm and hand oboInOwl:hasDbXref ICD10:Q71.2 semapv:UnspecifiedMatching -Orphanet:294979 Congenital absence of both forearm and hand oboInOwl:hasDbXref ICD10:Q71.2 semapv:UnspecifiedMatching -Orphanet:294979 Congenital absence of both forearm and hand oboInOwl:hasDbXref UMLS:C1306663 semapv:UnspecifiedMatching -Orphanet:294979 Congenital absence of both forearm and hand oboInOwl:hasDbXref icd11:LB99.5 semapv:UnspecifiedMatching -Orphanet:294981 Congenital absence of both lower leg and foot oboInOwl:hasDbXref ICD10:Q72.2 semapv:UnspecifiedMatching -Orphanet:294981 Congenital absence of both lower leg and foot oboInOwl:hasDbXref ICD10:Q72.2 semapv:UnspecifiedMatching -Orphanet:294981 Congenital absence of both lower leg and foot oboInOwl:hasDbXref UMLS:C3649652 semapv:UnspecifiedMatching -Orphanet:294981 Congenital absence of both lower leg and foot oboInOwl:hasDbXref icd11:LB9A.7 semapv:UnspecifiedMatching -Orphanet:294983 Acheiria oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching -Orphanet:294983 Acheiria oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching -Orphanet:294983 Acheiria oboInOwl:hasDbXref UMLS:C0265594 semapv:UnspecifiedMatching -Orphanet:294983 Acheiria oboInOwl:hasDbXref icd11:LB99.6 semapv:UnspecifiedMatching -Orphanet:294986 Apodia oboInOwl:hasDbXref ICD10:Q72.3 semapv:UnspecifiedMatching -Orphanet:294986 Apodia oboInOwl:hasDbXref ICD10:Q72.3 semapv:UnspecifiedMatching -Orphanet:294986 Apodia oboInOwl:hasDbXref UMLS:C0265624 semapv:UnspecifiedMatching -Orphanet:294986 Apodia oboInOwl:hasDbXref icd11:LB9A.4 semapv:UnspecifiedMatching -Orphanet:294988 Congenital hypoplasia of thumb oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching -Orphanet:294988 Congenital hypoplasia of thumb oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching -Orphanet:294988 Congenital hypoplasia of thumb oboInOwl:hasDbXref UMLS:C0431890 semapv:UnspecifiedMatching -Orphanet:294988 Congenital hypoplasia of thumb oboInOwl:hasDbXref icd11:LB99.7 semapv:UnspecifiedMatching +Orphanet:294967 Isolated amelia of upper limb oboInOwl:hasDbXref ICD10:Q71.0 semapv:UnspecifiedMatching +Orphanet:294967 Isolated amelia of upper limb oboInOwl:hasDbXref ICD10:Q71.0 semapv:UnspecifiedMatching +Orphanet:294967 Isolated amelia of upper limb oboInOwl:hasDbXref UMLS:C0265570 semapv:UnspecifiedMatching +Orphanet:294967 Isolated amelia of upper limb oboInOwl:hasDbXref icd11:LB99.0 semapv:UnspecifiedMatching +Orphanet:294969 Isolated amelia of lower limb oboInOwl:hasDbXref ICD10:Q72.0 semapv:UnspecifiedMatching +Orphanet:294969 Isolated amelia of lower limb oboInOwl:hasDbXref ICD10:Q72.0 semapv:UnspecifiedMatching +Orphanet:294969 Isolated amelia of lower limb oboInOwl:hasDbXref UMLS:C0265621 semapv:UnspecifiedMatching +Orphanet:294969 Isolated amelia of lower limb oboInOwl:hasDbXref icd11:LB9A.0 semapv:UnspecifiedMatching +Orphanet:294971 Isolated tetra-amelia oboInOwl:hasDbXref ICD10:Q73.0 semapv:UnspecifiedMatching +Orphanet:294971 Isolated tetra-amelia oboInOwl:hasDbXref ICD10:Q73.0 semapv:UnspecifiedMatching +Orphanet:294971 Isolated tetra-amelia oboInOwl:hasDbXref MESH:C536498 semapv:UnspecifiedMatching +Orphanet:294971 Isolated tetra-amelia oboInOwl:hasDbXref icd11:LB9B semapv:UnspecifiedMatching +Orphanet:294973 Isolated humeral agenesis/hypoplasia oboInOwl:hasDbXref ICD10:Q71.8 semapv:UnspecifiedMatching +Orphanet:294973 Isolated humeral agenesis/hypoplasia oboInOwl:hasDbXref ICD10:Q71.8 semapv:UnspecifiedMatching +Orphanet:294973 Isolated humeral agenesis/hypoplasia oboInOwl:hasDbXref UMLS:C0685375 semapv:UnspecifiedMatching +Orphanet:294973 Isolated humeral agenesis/hypoplasia oboInOwl:hasDbXref icd11:LB99.1 semapv:UnspecifiedMatching +Orphanet:294975 Isolated absence of upper arm and forearm with hand present oboInOwl:hasDbXref ICD10:Q71.1 semapv:UnspecifiedMatching +Orphanet:294975 Isolated absence of upper arm and forearm with hand present oboInOwl:hasDbXref ICD10:Q71.1 semapv:UnspecifiedMatching +Orphanet:294975 Isolated absence of upper arm and forearm with hand present oboInOwl:hasDbXref UMLS:C0265574 semapv:UnspecifiedMatching +Orphanet:294975 Isolated absence of upper arm and forearm with hand present oboInOwl:hasDbXref icd11:LB99.4 semapv:UnspecifiedMatching +Orphanet:294977 Isolated absence of thigh and lower leg with foot present oboInOwl:hasDbXref ICD10:Q72.1 semapv:UnspecifiedMatching +Orphanet:294977 Isolated absence of thigh and lower leg with foot present oboInOwl:hasDbXref ICD10:Q72.1 semapv:UnspecifiedMatching +Orphanet:294977 Isolated absence of thigh and lower leg with foot present oboInOwl:hasDbXref UMLS:C0265626 semapv:UnspecifiedMatching +Orphanet:294977 Isolated absence of thigh and lower leg with foot present oboInOwl:hasDbXref icd11:LB9A.3 semapv:UnspecifiedMatching +Orphanet:294979 Isolated absence of both forearm and hand oboInOwl:hasDbXref ICD10:Q71.2 semapv:UnspecifiedMatching +Orphanet:294979 Isolated absence of both forearm and hand oboInOwl:hasDbXref ICD10:Q71.2 semapv:UnspecifiedMatching +Orphanet:294979 Isolated absence of both forearm and hand oboInOwl:hasDbXref UMLS:C1306663 semapv:UnspecifiedMatching +Orphanet:294979 Isolated absence of both forearm and hand oboInOwl:hasDbXref icd11:LB99.5 semapv:UnspecifiedMatching +Orphanet:294981 Isolated absence of both lower leg and foot oboInOwl:hasDbXref ICD10:Q72.2 semapv:UnspecifiedMatching +Orphanet:294981 Isolated absence of both lower leg and foot oboInOwl:hasDbXref ICD10:Q72.2 semapv:UnspecifiedMatching +Orphanet:294981 Isolated absence of both lower leg and foot oboInOwl:hasDbXref UMLS:C3649652 semapv:UnspecifiedMatching +Orphanet:294981 Isolated absence of both lower leg and foot oboInOwl:hasDbXref icd11:LB9A.7 semapv:UnspecifiedMatching +Orphanet:294983 Isolated acheiria oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching +Orphanet:294983 Isolated acheiria oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching +Orphanet:294983 Isolated acheiria oboInOwl:hasDbXref UMLS:C0265594 semapv:UnspecifiedMatching +Orphanet:294983 Isolated acheiria oboInOwl:hasDbXref icd11:LB99.6 semapv:UnspecifiedMatching +Orphanet:294986 Isolated apodia oboInOwl:hasDbXref ICD10:Q72.3 semapv:UnspecifiedMatching +Orphanet:294986 Isolated apodia oboInOwl:hasDbXref ICD10:Q72.3 semapv:UnspecifiedMatching +Orphanet:294986 Isolated apodia oboInOwl:hasDbXref UMLS:C0265624 semapv:UnspecifiedMatching +Orphanet:294986 Isolated apodia oboInOwl:hasDbXref icd11:LB9A.4 semapv:UnspecifiedMatching +Orphanet:294988 Isolated hypoplasia of thumb oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching +Orphanet:294988 Isolated hypoplasia of thumb oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching +Orphanet:294988 Isolated hypoplasia of thumb oboInOwl:hasDbXref UMLS:C0431890 semapv:UnspecifiedMatching +Orphanet:294988 Isolated hypoplasia of thumb oboInOwl:hasDbXref icd11:LB99.7 semapv:UnspecifiedMatching Orphanet:295 Fetal parvovirus syndrome oboInOwl:hasDbXref ICD10:P35.8 semapv:UnspecifiedMatching Orphanet:295 Fetal parvovirus syndrome oboInOwl:hasDbXref ICD10:P35.8 semapv:UnspecifiedMatching Orphanet:295 Fetal parvovirus syndrome oboInOwl:hasDbXref MESH:C536301 semapv:UnspecifiedMatching Orphanet:295 Fetal parvovirus syndrome oboInOwl:hasDbXref UMLS:C2931167 semapv:UnspecifiedMatching Orphanet:295 Fetal parvovirus syndrome oboInOwl:hasDbXref icd11:KA62.7 semapv:UnspecifiedMatching -Orphanet:2950 Triphalangeal thumb-polysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -Orphanet:2950 Triphalangeal thumb-polysyndactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:2950 Triphalangeal thumb-polysyndactyly syndrome oboInOwl:hasDbXref MESH:C536563 semapv:UnspecifiedMatching -Orphanet:2950 Triphalangeal thumb-polysyndactyly syndrome oboInOwl:hasDbXref OMIM:174500 semapv:UnspecifiedMatching -Orphanet:295000 Constriction rings syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching -Orphanet:295000 Constriction rings syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching -Orphanet:295000 Constriction rings syndrome oboInOwl:hasDbXref MESH:D000652 semapv:UnspecifiedMatching -Orphanet:295000 Constriction rings syndrome oboInOwl:hasDbXref MedDRA:10064100 semapv:UnspecifiedMatching -Orphanet:295000 Constriction rings syndrome oboInOwl:hasDbXref OMIM:217100 semapv:UnspecifiedMatching -Orphanet:295000 Constriction rings syndrome oboInOwl:hasDbXref UMLS:C0002636 semapv:UnspecifiedMatching -Orphanet:295000 Constriction rings syndrome oboInOwl:hasDbXref icd11:LD26.5 semapv:UnspecifiedMatching -Orphanet:295002 Hyperphalangy oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -Orphanet:295002 Hyperphalangy oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -Orphanet:295002 Hyperphalangy oboInOwl:hasDbXref UMLS:C4706507 semapv:UnspecifiedMatching -Orphanet:295002 Hyperphalangy oboInOwl:hasDbXref icd11:LB77 semapv:UnspecifiedMatching +Orphanet:295000 Amniotic band syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching +Orphanet:295000 Amniotic band syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching +Orphanet:295000 Amniotic band syndrome oboInOwl:hasDbXref MESH:D000652 semapv:UnspecifiedMatching +Orphanet:295000 Amniotic band syndrome oboInOwl:hasDbXref MedDRA:10064100 semapv:UnspecifiedMatching +Orphanet:295000 Amniotic band syndrome oboInOwl:hasDbXref OMIM:217100 semapv:UnspecifiedMatching +Orphanet:295000 Amniotic band syndrome oboInOwl:hasDbXref UMLS:C0002636 semapv:UnspecifiedMatching +Orphanet:295000 Amniotic band syndrome oboInOwl:hasDbXref icd11:LD26.5 semapv:UnspecifiedMatching +Orphanet:295002 Isolated hyperphalangy oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:295002 Isolated hyperphalangy oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:295002 Isolated hyperphalangy oboInOwl:hasDbXref UMLS:C4706507 semapv:UnspecifiedMatching +Orphanet:295002 Isolated hyperphalangy oboInOwl:hasDbXref icd11:LB77 semapv:UnspecifiedMatching Orphanet:295004 Central polydactyly oboInOwl:hasDbXref ICD10:Q69.0 semapv:UnspecifiedMatching Orphanet:295004 Central polydactyly oboInOwl:hasDbXref ICD10:Q69.0 semapv:UnspecifiedMatching Orphanet:295004 Central polydactyly oboInOwl:hasDbXref UMLS:C0431903 semapv:UnspecifiedMatching @@ -25407,10 +25243,10 @@ Orphanet:295026 Congenital pseudoarthrosis of the ulna oboInOwl:hasDbXref ICD10: Orphanet:295026 Congenital pseudoarthrosis of the ulna oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:295026 Congenital pseudoarthrosis of the ulna oboInOwl:hasDbXref UMLS:C5679937 semapv:UnspecifiedMatching Orphanet:295026 Congenital pseudoarthrosis of the ulna oboInOwl:hasDbXref icd11:LB9Y semapv:UnspecifiedMatching -Orphanet:295028 Tibio-fibular synostosis oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching -Orphanet:295028 Tibio-fibular synostosis oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching -Orphanet:295028 Tibio-fibular synostosis oboInOwl:hasDbXref UMLS:C4545230 semapv:UnspecifiedMatching -Orphanet:295028 Tibio-fibular synostosis oboInOwl:hasDbXref icd11:LB90.6 semapv:UnspecifiedMatching +Orphanet:295028 Isolated tibio-fibular synostosis oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:295028 Isolated tibio-fibular synostosis oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:295028 Isolated tibio-fibular synostosis oboInOwl:hasDbXref UMLS:C4545230 semapv:UnspecifiedMatching +Orphanet:295028 Isolated tibio-fibular synostosis oboInOwl:hasDbXref icd11:LB90.6 semapv:UnspecifiedMatching Orphanet:295030 True congenital shoulder dislocation oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:295030 True congenital shoulder dislocation oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:295030 True congenital shoulder dislocation oboInOwl:hasDbXref UMLS:C0265562 semapv:UnspecifiedMatching @@ -25516,28 +25352,15 @@ Orphanet:295201 Congenital vertical talus, unilateral oboInOwl:hasDbXref icd11:L Orphanet:295203 Congenital vertical talus, bilateral oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching Orphanet:295203 Congenital vertical talus, bilateral oboInOwl:hasDbXref ICD10:Q66.8 semapv:UnspecifiedMatching Orphanet:295203 Congenital vertical talus, bilateral oboInOwl:hasDbXref OMIM:192950 semapv:UnspecifiedMatching +Orphanet:295203 Congenital vertical talus, bilateral oboInOwl:hasDbXref UMLS:C1860446 semapv:UnspecifiedMatching Orphanet:295203 Congenital vertical talus, bilateral oboInOwl:hasDbXref icd11:LB98.4 semapv:UnspecifiedMatching -Orphanet:295213 Humero-ulnar synostosis, unilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -Orphanet:295213 Humero-ulnar synostosis, unilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -Orphanet:295213 Humero-ulnar synostosis, unilateral oboInOwl:hasDbXref UMLS:C5679986 semapv:UnspecifiedMatching -Orphanet:295213 Humero-ulnar synostosis, unilateral oboInOwl:hasDbXref icd11:LB90.2 semapv:UnspecifiedMatching -Orphanet:295215 Humero-ulnar synostosis, bilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -Orphanet:295215 Humero-ulnar synostosis, bilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -Orphanet:295215 Humero-ulnar synostosis, bilateral oboInOwl:hasDbXref icd11:LB90.2 semapv:UnspecifiedMatching -Orphanet:295217 Radio-ulnar synostosis, unilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -Orphanet:295217 Radio-ulnar synostosis, unilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -Orphanet:295217 Radio-ulnar synostosis, unilateral oboInOwl:hasDbXref UMLS:C5679984 semapv:UnspecifiedMatching -Orphanet:295217 Radio-ulnar synostosis, unilateral oboInOwl:hasDbXref icd11:LB90.3 semapv:UnspecifiedMatching -Orphanet:295219 Radio-ulnar synostosis, bilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -Orphanet:295219 Radio-ulnar synostosis, bilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -Orphanet:295219 Radio-ulnar synostosis, bilateral oboInOwl:hasDbXref UMLS:C5679985 semapv:UnspecifiedMatching -Orphanet:295219 Radio-ulnar synostosis, bilateral oboInOwl:hasDbXref icd11:LB90.3 semapv:UnspecifiedMatching Orphanet:295225 Congenital elbow dislocation, unilateral oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:295225 Congenital elbow dislocation, unilateral oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:295225 Congenital elbow dislocation, unilateral oboInOwl:hasDbXref UMLS:C5681091 semapv:UnspecifiedMatching Orphanet:295225 Congenital elbow dislocation, unilateral oboInOwl:hasDbXref icd11:LB92 semapv:UnspecifiedMatching Orphanet:295227 Congenital elbow dislocation, bilateral oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching Orphanet:295227 Congenital elbow dislocation, bilateral oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching +Orphanet:295227 Congenital elbow dislocation, bilateral oboInOwl:hasDbXref UMLS:C5437776 semapv:UnspecifiedMatching Orphanet:295227 Congenital elbow dislocation, bilateral oboInOwl:hasDbXref icd11:LB92 semapv:UnspecifiedMatching Orphanet:295229 Congenital genu recurvatum oboInOwl:hasDbXref ICD10:Q68.2 semapv:UnspecifiedMatching Orphanet:295229 Congenital genu recurvatum oboInOwl:hasDbXref ICD10:Q68.2 semapv:UnspecifiedMatching @@ -25553,6 +25376,7 @@ Orphanet:295239 Macrodactyly of fingers, unilateral oboInOwl:hasDbXref UMLS:C567 Orphanet:295239 Macrodactyly of fingers, unilateral oboInOwl:hasDbXref icd11:LB97.0 semapv:UnspecifiedMatching Orphanet:295241 Macrodactyly of fingers, bilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:295241 Macrodactyly of fingers, bilateral oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:295241 Macrodactyly of fingers, bilateral oboInOwl:hasDbXref UMLS:C5437813 semapv:UnspecifiedMatching Orphanet:295241 Macrodactyly of fingers, bilateral oboInOwl:hasDbXref icd11:LB97.0 semapv:UnspecifiedMatching Orphanet:295243 Macrodactyly of toes, unilateral oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching Orphanet:295243 Macrodactyly of toes, unilateral oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching @@ -25560,6 +25384,7 @@ Orphanet:295243 Macrodactyly of toes, unilateral oboInOwl:hasDbXref UMLS:C567998 Orphanet:295243 Macrodactyly of toes, unilateral oboInOwl:hasDbXref icd11:LB97.1 semapv:UnspecifiedMatching Orphanet:295245 Macrodactyly of toes, bilateral oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching Orphanet:295245 Macrodactyly of toes, bilateral oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:295245 Macrodactyly of toes, bilateral oboInOwl:hasDbXref UMLS:C5437810 semapv:UnspecifiedMatching Orphanet:295245 Macrodactyly of toes, bilateral oboInOwl:hasDbXref icd11:LB97.1 semapv:UnspecifiedMatching Orphanet:295279 centrosomal protein 135 oboInOwl:hasDbXref ENSEMBL:ENSG00000174799 semapv:UnspecifiedMatching Orphanet:295279 centrosomal protein 135 oboInOwl:hasDbXref OMIM:611423 semapv:UnspecifiedMatching @@ -25613,7 +25438,7 @@ Orphanet:2963 Progeroid syndrome, Petty type oboInOwl:hasDbXref UMLS:C2676780 se Orphanet:2964 Autosomal dominant prognathism oboInOwl:hasDbXref ICD10:K07.1 semapv:UnspecifiedMatching Orphanet:2964 Autosomal dominant prognathism oboInOwl:hasDbXref ICD10:K07.1 semapv:UnspecifiedMatching Orphanet:2964 Autosomal dominant prognathism oboInOwl:hasDbXref OMIM:176700 semapv:UnspecifiedMatching -Orphanet:2964 Autosomal dominant prognathism oboInOwl:hasDbXref UMLS:C5680744 semapv:UnspecifiedMatching +Orphanet:2964 Autosomal dominant prognathism oboInOwl:hasDbXref UMLS:C4755315 semapv:UnspecifiedMatching Orphanet:2964 Autosomal dominant prognathism oboInOwl:hasDbXref icd11:DA0E.1 semapv:UnspecifiedMatching Orphanet:2965 Prolactinoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching Orphanet:2965 Prolactinoma oboInOwl:hasDbXref ICD10:D35.2 semapv:UnspecifiedMatching @@ -25739,7 +25564,6 @@ Orphanet:2980 Acrootoocular syndrome oboInOwl:hasDbXref UMLS:C1849661 semapv:Uns Orphanet:2981 Pseudo-Zellweger syndrome oboInOwl:hasDbXref MESH:C535818 semapv:UnspecifiedMatching Orphanet:2981 Pseudo-Zellweger syndrome oboInOwl:hasDbXref UMLS:C1533628 semapv:UnspecifiedMatching Orphanet:2982 46,XX difference of sex development oboInOwl:hasDbXref MESH:D058489 semapv:UnspecifiedMatching -Orphanet:2982 46,XX difference of sex development oboInOwl:hasDbXref UMLS:C2936403 semapv:UnspecifiedMatching Orphanet:29822 Spontaneous periodic hypothermia oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching Orphanet:29822 Spontaneous periodic hypothermia oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching Orphanet:29822 Spontaneous periodic hypothermia oboInOwl:hasDbXref MESH:C537594 semapv:UnspecifiedMatching @@ -25955,6 +25779,7 @@ Orphanet:3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome o Orphanet:300493 Sagliker syndrome oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching Orphanet:300493 Sagliker syndrome oboInOwl:hasDbXref ICD10:M89.8 semapv:UnspecifiedMatching Orphanet:300493 Sagliker syndrome oboInOwl:hasDbXref UMLS:C5681093 semapv:UnspecifiedMatching +Orphanet:300493 Sagliker syndrome oboInOwl:hasDbXref icd11:GB90.4Y semapv:UnspecifiedMatching Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 oboInOwl:hasDbXref OMIM:300868 semapv:UnspecifiedMatching @@ -25964,6 +25789,7 @@ Orphanet:3005 Pyle disease oboInOwl:hasDbXref ICD10:Q78.5 semapv:UnspecifiedMatc Orphanet:3005 Pyle disease oboInOwl:hasDbXref MESH:C536252 semapv:UnspecifiedMatching Orphanet:3005 Pyle disease oboInOwl:hasDbXref OMIM:265900 semapv:UnspecifiedMatching Orphanet:3005 Pyle disease oboInOwl:hasDbXref UMLS:C0265294 semapv:UnspecifiedMatching +Orphanet:3005 Pyle disease oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching Orphanet:300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching Orphanet:300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome oboInOwl:hasDbXref ICD10:D36.1 semapv:UnspecifiedMatching Orphanet:300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome oboInOwl:hasDbXref UMLS:C4751109 semapv:UnspecifiedMatching @@ -25977,10 +25803,12 @@ Orphanet:300515 Rare nail tumor oboInOwl:hasDbXref UMLS:C5681082 semapv:Unspecif Orphanet:300525 Pseudohypoaldosteronism type 2D oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching Orphanet:300525 Pseudohypoaldosteronism type 2D oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching Orphanet:300525 Pseudohypoaldosteronism type 2D oboInOwl:hasDbXref OMIM:614495 semapv:UnspecifiedMatching +Orphanet:300525 Pseudohypoaldosteronism type 2D oboInOwl:hasDbXref UMLS:C3469605 semapv:UnspecifiedMatching Orphanet:300525 Pseudohypoaldosteronism type 2D oboInOwl:hasDbXref icd11:BA04.Y semapv:UnspecifiedMatching Orphanet:300530 Pseudohypoaldosteronism type 2E oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching Orphanet:300530 Pseudohypoaldosteronism type 2E oboInOwl:hasDbXref ICD10:I15.1 semapv:UnspecifiedMatching Orphanet:300530 Pseudohypoaldosteronism type 2E oboInOwl:hasDbXref OMIM:614496 semapv:UnspecifiedMatching +Orphanet:300530 Pseudohypoaldosteronism type 2E oboInOwl:hasDbXref UMLS:C3469606 semapv:UnspecifiedMatching Orphanet:300530 Pseudohypoaldosteronism type 2E oboInOwl:hasDbXref icd11:BA04.Y semapv:UnspecifiedMatching Orphanet:300536 DDOST-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:300536 DDOST-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching @@ -26123,17 +25951,17 @@ Orphanet:3019 Ramon syndrome oboInOwl:hasDbXref MESH:C535285 semapv:UnspecifiedM Orphanet:3019 Ramon syndrome oboInOwl:hasDbXref OMIM:266270 semapv:UnspecifiedMatching Orphanet:3019 Ramon syndrome oboInOwl:hasDbXref UMLS:C0796133 semapv:UnspecifiedMatching Orphanet:3019 Ramon syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching -Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref ICD10:B07 semapv:UnspecifiedMatching -Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref ICD10:B07 semapv:UnspecifiedMatching -Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref MESH:D004819 semapv:UnspecifiedMatching -Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref MedDRA:10052339 semapv:UnspecifiedMatching -Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:226400 semapv:UnspecifiedMatching -Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:305350 semapv:UnspecifiedMatching -Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:618231 semapv:UnspecifiedMatching -Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:618267 semapv:UnspecifiedMatching -Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:618309 semapv:UnspecifiedMatching -Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref UMLS:C0014522 semapv:UnspecifiedMatching -Orphanet:302 Epidermodysplasia verruciformis oboInOwl:hasDbXref icd11:1E83 semapv:UnspecifiedMatching +Orphanet:302 Inherited epidermodysplasia verruciformis oboInOwl:hasDbXref ICD10:B07 semapv:UnspecifiedMatching +Orphanet:302 Inherited epidermodysplasia verruciformis oboInOwl:hasDbXref ICD10:B07 semapv:UnspecifiedMatching +Orphanet:302 Inherited epidermodysplasia verruciformis oboInOwl:hasDbXref MESH:D004819 semapv:UnspecifiedMatching +Orphanet:302 Inherited epidermodysplasia verruciformis oboInOwl:hasDbXref MedDRA:10052339 semapv:UnspecifiedMatching +Orphanet:302 Inherited epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:226400 semapv:UnspecifiedMatching +Orphanet:302 Inherited epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:305350 semapv:UnspecifiedMatching +Orphanet:302 Inherited epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:618231 semapv:UnspecifiedMatching +Orphanet:302 Inherited epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:618267 semapv:UnspecifiedMatching +Orphanet:302 Inherited epidermodysplasia verruciformis oboInOwl:hasDbXref OMIM:618309 semapv:UnspecifiedMatching +Orphanet:302 Inherited epidermodysplasia verruciformis oboInOwl:hasDbXref UMLS:C0014522 semapv:UnspecifiedMatching +Orphanet:302 Inherited epidermodysplasia verruciformis oboInOwl:hasDbXref icd11:1E83 semapv:UnspecifiedMatching Orphanet:3020 Ramsay Hunt syndrome oboInOwl:hasDbXref ICD10:B02.2+ semapv:UnspecifiedMatching Orphanet:3020 Ramsay Hunt syndrome oboInOwl:hasDbXref ICD10:B02.2+ semapv:UnspecifiedMatching Orphanet:3020 Ramsay Hunt syndrome oboInOwl:hasDbXref ICD10:G53.0* semapv:UnspecifiedMatching @@ -26209,9 +26037,9 @@ Orphanet:303028 glutamate receptor interacting protein 1 oboInOwl:hasDbXref unip Orphanet:303168 LPS responsive beige-like anchor protein oboInOwl:hasDbXref ENSEMBL:ENSG00000198589 semapv:UnspecifiedMatching Orphanet:303168 LPS responsive beige-like anchor protein oboInOwl:hasDbXref OMIM:606453 semapv:UnspecifiedMatching Orphanet:303168 LPS responsive beige-like anchor protein oboInOwl:hasDbXref uniprot:P50851 semapv:UnspecifiedMatching -Orphanet:303176 piezo type mechanosensitive ion channel component 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000103335 semapv:UnspecifiedMatching -Orphanet:303176 piezo type mechanosensitive ion channel component 1 oboInOwl:hasDbXref OMIM:611184 semapv:UnspecifiedMatching -Orphanet:303176 piezo type mechanosensitive ion channel component 1 oboInOwl:hasDbXref uniprot:Q92508 semapv:UnspecifiedMatching +Orphanet:303176 piezo type mechanosensitive ion channel component 1 (Er blood group) oboInOwl:hasDbXref ENSEMBL:ENSG00000103335 semapv:UnspecifiedMatching +Orphanet:303176 piezo type mechanosensitive ion channel component 1 (Er blood group) oboInOwl:hasDbXref OMIM:611184 semapv:UnspecifiedMatching +Orphanet:303176 piezo type mechanosensitive ion channel component 1 (Er blood group) oboInOwl:hasDbXref uniprot:Q92508 semapv:UnspecifiedMatching Orphanet:3032 NPHP3-related Meckel-like syndrome oboInOwl:hasDbXref ICD10:Q61.9 semapv:UnspecifiedMatching Orphanet:3032 NPHP3-related Meckel-like syndrome oboInOwl:hasDbXref ICD10:Q61.9 semapv:UnspecifiedMatching Orphanet:3032 NPHP3-related Meckel-like syndrome oboInOwl:hasDbXref OMIM:267010 semapv:UnspecifiedMatching @@ -26285,9 +26113,9 @@ Orphanet:304 Epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10:Q81.0 semapv Orphanet:304 Epidermolysis bullosa simplex oboInOwl:hasDbXref MESH:D016110 semapv:UnspecifiedMatching Orphanet:304 Epidermolysis bullosa simplex oboInOwl:hasDbXref UMLS:C0079298 semapv:UnspecifiedMatching Orphanet:304 Epidermolysis bullosa simplex oboInOwl:hasDbXref icd11:EC30 semapv:UnspecifiedMatching -Orphanet:304005 tubulin gamma complex associated protein 6 oboInOwl:hasDbXref ENSEMBL:ENSG00000128159 semapv:UnspecifiedMatching -Orphanet:304005 tubulin gamma complex associated protein 6 oboInOwl:hasDbXref OMIM:610053 semapv:UnspecifiedMatching -Orphanet:304005 tubulin gamma complex associated protein 6 oboInOwl:hasDbXref uniprot:Q96RT7 semapv:UnspecifiedMatching +Orphanet:304005 tubulin gamma complex component 6 oboInOwl:hasDbXref ENSEMBL:ENSG00000128159 semapv:UnspecifiedMatching +Orphanet:304005 tubulin gamma complex component 6 oboInOwl:hasDbXref OMIM:610053 semapv:UnspecifiedMatching +Orphanet:304005 tubulin gamma complex component 6 oboInOwl:hasDbXref uniprot:Q96RT7 semapv:UnspecifiedMatching Orphanet:304055 Pituitary tumor oboInOwl:hasDbXref MESH:D010911 semapv:UnspecifiedMatching Orphanet:304055 Pituitary tumor oboInOwl:hasDbXref UMLS:C0032019 semapv:UnspecifiedMatching Orphanet:304075 nicotinamide nucleotide transhydrogenase oboInOwl:hasDbXref ENSEMBL:ENSG00000112992 semapv:UnspecifiedMatching @@ -26381,8 +26209,6 @@ Orphanet:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref MedDRA:10081371 Orphanet:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref OMIM:300615 semapv:UnspecifiedMatching Orphanet:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref UMLS:C0796275 semapv:UnspecifiedMatching Orphanet:3057 Monoamine oxidase A deficiency oboInOwl:hasDbXref icd11:5C59.0Y semapv:UnspecifiedMatching -Orphanet:3059 X-linked intellectual disability, Gu type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:3059 X-linked intellectual disability, Gu type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:306 Benign familial infantile epilepsy oboInOwl:hasDbXref OMIM:601764 semapv:UnspecifiedMatching @@ -26592,7 +26418,7 @@ Orphanet:3074 Intellectual disability-short stature-hypertelorism syndrome oboIn Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref ICD10:F71.1 semapv:UnspecifiedMatching Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref ICD10:F71.1 semapv:UnspecifiedMatching Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref OMIM:300055 semapv:UnspecifiedMatching -Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref UMLS:C3713418 semapv:UnspecifiedMatching +Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref UMLS:C0796222 semapv:UnspecifiedMatching Orphanet:3077 X-linked intellectual disability-psychosis-macroorchidism syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching Orphanet:307711 Disease with diffuse palmoplantar keratoderma as a major feature oboInOwl:hasDbXref UMLS:C5679958 semapv:UnspecifiedMatching Orphanet:307766 Curly hair-acral keratoderma-caries syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching @@ -26682,8 +26508,6 @@ Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B oboInOwl:hasDbXref OMIM:252160 semapv:UnspecifiedMatching Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B oboInOwl:hasDbXref UMLS:C1854989 semapv:UnspecifiedMatching Orphanet:308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B oboInOwl:hasDbXref icd11:5C50.B semapv:UnspecifiedMatching -Orphanet:3084 Mirhosseini-Holmes-Walton syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:3084 Mirhosseini-Holmes-Walton syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3084 Mirhosseini-Holmes-Walton syndrome oboInOwl:hasDbXref OMIM:268050 semapv:UnspecifiedMatching Orphanet:3084 Mirhosseini-Holmes-Walton syndrome oboInOwl:hasDbXref UMLS:C0796072 semapv:UnspecifiedMatching Orphanet:308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C oboInOwl:hasDbXref ICD10:E72.1 semapv:UnspecifiedMatching @@ -26730,6 +26554,7 @@ Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome oboInOwl:hasDbXref OMIM:268020 semapv:UnspecifiedMatching Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome oboInOwl:hasDbXref UMLS:C5679580 semapv:UnspecifiedMatching +Orphanet:3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:308520 Glycogen storage disease due to glycogen synthase deficiency oboInOwl:hasDbXref UMLS:C5679973 semapv:UnspecifiedMatching Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:308552 Glycogen storage disease due to acid maltase deficiency, infantile onset oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching @@ -26891,7 +26716,6 @@ Orphanet:309192 Tay-Sachs disease, adult form oboInOwl:hasDbXref icd11:5C56.00 s Orphanet:3092 Fixed subaortic stenosis oboInOwl:hasDbXref ICD10:Q24.4 semapv:UnspecifiedMatching Orphanet:3092 Fixed subaortic stenosis oboInOwl:hasDbXref ICD10:Q24.4 semapv:UnspecifiedMatching Orphanet:3092 Fixed subaortic stenosis oboInOwl:hasDbXref OMIM:271950 semapv:UnspecifiedMatching -Orphanet:3092 Fixed subaortic stenosis oboInOwl:hasDbXref UMLS:C5680877 semapv:UnspecifiedMatching Orphanet:3092 Fixed subaortic stenosis oboInOwl:hasDbXref icd11:LA8A.5 semapv:UnspecifiedMatching Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching @@ -26904,12 +26728,12 @@ Orphanet:309246 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref ICD10:E75.0 se Orphanet:309246 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref OMIM:272750 semapv:UnspecifiedMatching Orphanet:309246 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref UMLS:C0268275 semapv:UnspecifiedMatching Orphanet:309246 GM2 gangliosidosis, AB variant oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching -Orphanet:30925 Hereditary central diabetes insipidus oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching -Orphanet:30925 Hereditary central diabetes insipidus oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching -Orphanet:30925 Hereditary central diabetes insipidus oboInOwl:hasDbXref OMIM:125700 semapv:UnspecifiedMatching -Orphanet:30925 Hereditary central diabetes insipidus oboInOwl:hasDbXref OMIM:304900 semapv:UnspecifiedMatching -Orphanet:30925 Hereditary central diabetes insipidus oboInOwl:hasDbXref UMLS:C5680110 semapv:UnspecifiedMatching -Orphanet:30925 Hereditary central diabetes insipidus oboInOwl:hasDbXref icd11:5A61.5 semapv:UnspecifiedMatching +Orphanet:30925 Hereditary arginine vasopressin deficiency oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching +Orphanet:30925 Hereditary arginine vasopressin deficiency oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching +Orphanet:30925 Hereditary arginine vasopressin deficiency oboInOwl:hasDbXref OMIM:125700 semapv:UnspecifiedMatching +Orphanet:30925 Hereditary arginine vasopressin deficiency oboInOwl:hasDbXref OMIM:304900 semapv:UnspecifiedMatching +Orphanet:30925 Hereditary arginine vasopressin deficiency oboInOwl:hasDbXref UMLS:C5680110 semapv:UnspecifiedMatching +Orphanet:30925 Hereditary arginine vasopressin deficiency oboInOwl:hasDbXref icd11:5A61.5 semapv:UnspecifiedMatching Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency oboInOwl:hasDbXref MESH:C566435 semapv:UnspecifiedMatching @@ -27149,6 +26973,7 @@ Orphanet:310425 profilin 1 oboInOwl:hasDbXref uniprot:P07737 semapv:UnspecifiedM Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement oboInOwl:hasDbXref OMIM:248250 semapv:UnspecifiedMatching +Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement oboInOwl:hasDbXref UMLS:C4511528 semapv:UnspecifiedMatching Orphanet:31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement oboInOwl:hasDbXref icd11:5C64.41 semapv:UnspecifiedMatching Orphanet:310433 potassium inwardly rectifying channel subfamily J member 18 oboInOwl:hasDbXref ENSEMBL:ENSG00000260458 semapv:UnspecifiedMatching Orphanet:310433 potassium inwardly rectifying channel subfamily J member 18 oboInOwl:hasDbXref OMIM:613236 semapv:UnspecifiedMatching @@ -27239,8 +27064,6 @@ Orphanet:311350 immediate early response 3 interacting protein 1 oboInOwl:hasDbX Orphanet:311398 ATPase plasma membrane Ca2+ transporting 3 oboInOwl:hasDbXref ENSEMBL:ENSG00000067842 semapv:UnspecifiedMatching Orphanet:311398 ATPase plasma membrane Ca2+ transporting 3 oboInOwl:hasDbXref OMIM:300014 semapv:UnspecifiedMatching Orphanet:311398 ATPase plasma membrane Ca2+ transporting 3 oboInOwl:hasDbXref uniprot:Q16720 semapv:UnspecifiedMatching -Orphanet:31142 NON RARE IN EUROPE: Oral erosive lichen oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching -Orphanet:31142 NON RARE IN EUROPE: Oral erosive lichen oboInOwl:hasDbXref ICD10:L43.8 semapv:UnspecifiedMatching Orphanet:31142 NON RARE IN EUROPE: Oral erosive lichen oboInOwl:hasDbXref icd11:EA91.41 semapv:UnspecifiedMatching Orphanet:311424 RAB33B, member RAS oncogene family oboInOwl:hasDbXref ENSEMBL:ENSG00000172007 semapv:UnspecifiedMatching Orphanet:311424 RAB33B, member RAS oncogene family oboInOwl:hasDbXref OMIM:605950 semapv:UnspecifiedMatching @@ -27276,8 +27099,6 @@ Orphanet:311587 nuclear receptor coactivator 4 oboInOwl:hasDbXref uniprot:Q13772 Orphanet:311649 collagen type XIV alpha 1 chain oboInOwl:hasDbXref ENSEMBL:ENSG00000187955 semapv:UnspecifiedMatching Orphanet:311649 collagen type XIV alpha 1 chain oboInOwl:hasDbXref OMIM:120324 semapv:UnspecifiedMatching Orphanet:311649 collagen type XIV alpha 1 chain oboInOwl:hasDbXref uniprot:Q05707 semapv:UnspecifiedMatching -Orphanet:3118 Rudiger syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:3118 Rudiger syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3118 Rudiger syndrome oboInOwl:hasDbXref OMIM:268650 semapv:UnspecifiedMatching Orphanet:3118 Rudiger syndrome oboInOwl:hasDbXref UMLS:C3502049 semapv:UnspecifiedMatching Orphanet:312 Autosomal dominant epidermolytic ichthyosis oboInOwl:hasDbXref ICD10:Q80.3 semapv:UnspecifiedMatching @@ -27353,7 +27174,6 @@ Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref ICD10:Q80.2 semapv:Unspecifi Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref ICD10:Q80.2 semapv:UnspecifiedMatching Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref MESH:D017490 semapv:UnspecifiedMatching Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref MedDRA:10023686 semapv:UnspecifiedMatching -Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:146750 semapv:UnspecifiedMatching Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:242300 semapv:UnspecifiedMatching Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:601277 semapv:UnspecifiedMatching Orphanet:313 Lamellar ichthyosis oboInOwl:hasDbXref OMIM:604777 semapv:UnspecifiedMatching @@ -27380,8 +27200,6 @@ Orphanet:3134 SCARF syndrome oboInOwl:hasDbXref MESH:C536625 semapv:UnspecifiedM Orphanet:3134 SCARF syndrome oboInOwl:hasDbXref OMIM:312830 semapv:UnspecifiedMatching Orphanet:3134 SCARF syndrome oboInOwl:hasDbXref UMLS:C1839321 semapv:UnspecifiedMatching Orphanet:3134 SCARF syndrome oboInOwl:hasDbXref icd11:LD28.2 semapv:UnspecifiedMatching -Orphanet:3135 NON RARE IN EUROPE: Scheuermann's disease oboInOwl:hasDbXref ICD10:M42.0 semapv:UnspecifiedMatching -Orphanet:3135 NON RARE IN EUROPE: Scheuermann's disease oboInOwl:hasDbXref ICD10:M42.0 semapv:UnspecifiedMatching Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref ICD10:E77.1 semapv:UnspecifiedMatching Orphanet:3137 Alpha-N-acetylgalactosaminidase deficiency oboInOwl:hasDbXref OMIM:609241 semapv:UnspecifiedMatching @@ -27406,13 +27224,15 @@ Orphanet:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref MedDRA:10084409 semapv:U Orphanet:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref OMIM:181450 semapv:UnspecifiedMatching Orphanet:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref UMLS:C1866994 semapv:UnspecifiedMatching Orphanet:3138 Ulnar-mammary syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome oboInOwl:hasDbXref ICD10:H35.8 semapv:UnspecifiedMatching +Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome oboInOwl:hasDbXref ICD10:H35.8 semapv:UnspecifiedMatching Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome oboInOwl:hasDbXref OMIM:614979 semapv:UnspecifiedMatching Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome oboInOwl:hasDbXref UMLS:C4749914 semapv:UnspecifiedMatching -Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref MESH:C580150 semapv:UnspecifiedMatching -Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref OMIM:221820 semapv:UnspecifiedMatching -Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref UMLS:C3711381 semapv:UnspecifiedMatching +Orphanet:313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref MESH:C580150 semapv:UnspecifiedMatching +Orphanet:313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref OMIM:221820 semapv:UnspecifiedMatching +Orphanet:313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia oboInOwl:hasDbXref UMLS:C3711381 semapv:UnspecifiedMatching Orphanet:313822 zinc finger protein 423 oboInOwl:hasDbXref ENSEMBL:ENSG00000102935 semapv:UnspecifiedMatching Orphanet:313822 zinc finger protein 423 oboInOwl:hasDbXref OMIM:604557 semapv:UnspecifiedMatching Orphanet:313822 zinc finger protein 423 oboInOwl:hasDbXref uniprot:Q2M1K9 semapv:UnspecifiedMatching @@ -27466,22 +27286,6 @@ Orphanet:314 Erythroderma desquamativum oboInOwl:hasDbXref ICD10:L21.1 semapv:Un Orphanet:314 Erythroderma desquamativum oboInOwl:hasDbXref OMIM:609536 semapv:UnspecifiedMatching Orphanet:314 Erythroderma desquamativum oboInOwl:hasDbXref UMLS:C5551904 semapv:UnspecifiedMatching Orphanet:314 Erythroderma desquamativum oboInOwl:hasDbXref icd11:EH40.2 semapv:UnspecifiedMatching -Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.0 semapv:UnspecifiedMatching -Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.0 semapv:UnspecifiedMatching -Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.1 semapv:UnspecifiedMatching -Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.1 semapv:UnspecifiedMatching -Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.2 semapv:UnspecifiedMatching -Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.2 semapv:UnspecifiedMatching -Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.3 semapv:UnspecifiedMatching -Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.3 semapv:UnspecifiedMatching -Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.4 semapv:UnspecifiedMatching -Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.4 semapv:UnspecifiedMatching -Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.5 semapv:UnspecifiedMatching -Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.5 semapv:UnspecifiedMatching -Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.6 semapv:UnspecifiedMatching -Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.6 semapv:UnspecifiedMatching -Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.8 semapv:UnspecifiedMatching -Orphanet:3140 NON RARE IN EUROPE: Schizophrenia oboInOwl:hasDbXref ICD10:F20.8 semapv:UnspecifiedMatching Orphanet:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome oboInOwl:hasDbXref UMLS:C4751075 semapv:UnspecifiedMatching @@ -27584,15 +27388,17 @@ Orphanet:314473 Ovarian fibroma oboInOwl:hasDbXref icd11:2F32.1 semapv:Unspecifi Orphanet:314478 Ovarian fibrothecoma oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching Orphanet:314478 Ovarian fibrothecoma oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching Orphanet:314478 Ovarian fibrothecoma oboInOwl:hasDbXref UMLS:C4707356 semapv:UnspecifiedMatching +Orphanet:314478 Ovarian fibrothecoma oboInOwl:hasDbXref icd11:2F32.Y semapv:UnspecifiedMatching Orphanet:314485 Young adult-onset distal hereditary motor neuropathy oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:314485 Young adult-onset distal hereditary motor neuropathy oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:314485 Young adult-onset distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:614881 semapv:UnspecifiedMatching Orphanet:314485 Young adult-onset distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:619216 semapv:UnspecifiedMatching Orphanet:314485 Young adult-onset distal hereditary motor neuropathy oboInOwl:hasDbXref UMLS:C4749918 semapv:UnspecifiedMatching -Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:N25.1 semapv:UnspecifiedMatching -Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:N25.1 semapv:UnspecifiedMatching -Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:221995 semapv:UnspecifiedMatching -Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C5680732 semapv:UnspecifiedMatching +Orphanet:3145 Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:N25.1 semapv:UnspecifiedMatching +Orphanet:3145 Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:N25.1 semapv:UnspecifiedMatching +Orphanet:3145 Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref MESH:C535949 semapv:UnspecifiedMatching +Orphanet:3145 Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:221995 semapv:UnspecifiedMatching +Orphanet:3145 Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C2931070 semapv:UnspecifiedMatching Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome oboInOwl:hasDbXref MESH:C566988 semapv:UnspecifiedMatching @@ -27631,10 +27437,10 @@ Orphanet:314613 Growing teratoma syndrome oboInOwl:hasDbXref UMLS:C3891714 semap Orphanet:314621 Duplication of the pituitary gland oboInOwl:hasDbXref ICD10:Q89.2 semapv:UnspecifiedMatching Orphanet:314621 Duplication of the pituitary gland oboInOwl:hasDbXref ICD10:Q89.2 semapv:UnspecifiedMatching Orphanet:314621 Duplication of the pituitary gland oboInOwl:hasDbXref UMLS:C4755258 semapv:UnspecifiedMatching -Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:606693 semapv:UnspecifiedMatching -Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C5230619 semapv:UnspecifiedMatching +Orphanet:314632 CLN12 disease oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching +Orphanet:314632 CLN12 disease oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching +Orphanet:314632 CLN12 disease oboInOwl:hasDbXref OMIM:606693 semapv:UnspecifiedMatching +Orphanet:314632 CLN12 disease oboInOwl:hasDbXref UMLS:C5230619 semapv:UnspecifiedMatching Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency oboInOwl:hasDbXref OMIM:614702 semapv:UnspecifiedMatching @@ -27651,6 +27457,7 @@ Orphanet:314652 Variant ABeta2M amyloidosis oboInOwl:hasDbXref icd11:5D00.3 sema Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oboInOwl:hasDbXref OMIM:616158 semapv:UnspecifiedMatching +Orphanet:314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion oboInOwl:hasDbXref UMLS:C4708510 semapv:UnspecifiedMatching Orphanet:314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia oboInOwl:hasDbXref UMLS:C5192432 semapv:UnspecifiedMatching @@ -27786,8 +27593,6 @@ Orphanet:3152 Sclerosteosis oboInOwl:hasDbXref OMIM:269500 semapv:UnspecifiedMat Orphanet:3152 Sclerosteosis oboInOwl:hasDbXref OMIM:614305 semapv:UnspecifiedMatching Orphanet:3152 Sclerosteosis oboInOwl:hasDbXref UMLS:C0265301 semapv:UnspecifiedMatching Orphanet:3152 Sclerosteosis oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching -Orphanet:3153 NON RARE IN EUROPE: Adolescent idiopathic scoliosis oboInOwl:hasDbXref ICD10:M41.1 semapv:UnspecifiedMatching -Orphanet:3153 NON RARE IN EUROPE: Adolescent idiopathic scoliosis oboInOwl:hasDbXref ICD10:M41.1 semapv:UnspecifiedMatching Orphanet:315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching Orphanet:315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching Orphanet:315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form oboInOwl:hasDbXref OMIM:201910 semapv:UnspecifiedMatching @@ -27850,7 +27655,6 @@ Orphanet:315800 dynein axonemal assembly factor 5 oboInOwl:hasDbXref OMIM:614864 Orphanet:315800 dynein axonemal assembly factor 5 oboInOwl:hasDbXref uniprot:Q86Y56 semapv:UnspecifiedMatching Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref OMIM:133200 semapv:UnspecifiedMatching Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref OMIM:617756 semapv:UnspecifiedMatching Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref OMIM:618531 semapv:UnspecifiedMatching Orphanet:316 Progressive symmetric erythrokeratodermia oboInOwl:hasDbXref OMIM:619209 semapv:UnspecifiedMatching @@ -27872,10 +27676,10 @@ Orphanet:3162 Sézary syndrome oboInOwl:hasDbXref UMLS:C0036920 semapv:Unspecifi Orphanet:3162 Sézary syndrome oboInOwl:hasDbXref icd11:2B02 semapv:UnspecifiedMatching Orphanet:316226 Spastic ataxia oboInOwl:hasDbXref MESH:C564815 semapv:UnspecifiedMatching Orphanet:316226 Spastic ataxia oboInOwl:hasDbXref UMLS:C1849156 semapv:UnspecifiedMatching -Orphanet:316226 Spastic ataxia oboInOwl:hasDbXref icd11:8B44.0Z semapv:UnspecifiedMatching Orphanet:316235 Autosomal dominant spastic ataxia oboInOwl:hasDbXref UMLS:C5679899 semapv:UnspecifiedMatching Orphanet:316240 Autosomal recessive spastic ataxia oboInOwl:hasDbXref UMLS:C5679900 semapv:UnspecifiedMatching Orphanet:316244 Partial deletion of the short arm of chromosome 12 oboInOwl:hasDbXref MESH:C538302 semapv:UnspecifiedMatching +Orphanet:316244 Partial deletion of the short arm of chromosome 12 oboInOwl:hasDbXref UMLS:C2931805 semapv:UnspecifiedMatching Orphanet:3163 SHORT syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:3163 SHORT syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:3163 SHORT syndrome oboInOwl:hasDbXref MESH:C537327 semapv:UnspecifiedMatching @@ -27940,6 +27744,8 @@ Orphanet:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref MESH Orphanet:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref OMIM:602066 semapv:UnspecifiedMatching Orphanet:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref UMLS:C1865926 semapv:UnspecifiedMatching Orphanet:31709 Infantile convulsions and choreoathetosis oboInOwl:hasDbXref icd11:8A61.10 semapv:UnspecifiedMatching +Orphanet:3172 Eyebrow duplication-syndactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:3172 Eyebrow duplication-syndactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3172 Eyebrow duplication-syndactyly syndrome oboInOwl:hasDbXref OMIM:227210 semapv:UnspecifiedMatching Orphanet:3172 Eyebrow duplication-syndactyly syndrome oboInOwl:hasDbXref UMLS:C4518569 semapv:UnspecifiedMatching Orphanet:3173 Infantile spasms-broad thumbs syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching @@ -27992,10 +27798,12 @@ Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency oboI Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency oboInOwl:hasDbXref OMIM:612782 semapv:UnspecifiedMatching +Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency oboInOwl:hasDbXref UMLS:C2748568 semapv:UnspecifiedMatching Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency oboInOwl:hasDbXref OMIM:612783 semapv:UnspecifiedMatching +Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency oboInOwl:hasDbXref UMLS:C2748557 semapv:UnspecifiedMatching Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching Orphanet:317445 protein tyrosine phosphatase non-receptor type 22 oboInOwl:hasDbXref ENSEMBL:ENSG00000134242 semapv:UnspecifiedMatching Orphanet:317445 protein tyrosine phosphatase non-receptor type 22 oboInOwl:hasDbXref OMIM:600716 semapv:UnspecifiedMatching @@ -28005,11 +27813,11 @@ Orphanet:317473 Pancytopenia due to IKZF1 mutations oboInOwl:hasDbXref ICD10:D81 Orphanet:317473 Pancytopenia due to IKZF1 mutations oboInOwl:hasDbXref OMIM:616873 semapv:UnspecifiedMatching Orphanet:317473 Pancytopenia due to IKZF1 mutations oboInOwl:hasDbXref UMLS:C5190826 semapv:UnspecifiedMatching Orphanet:317473 Pancytopenia due to IKZF1 mutations oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching -Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching -Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oboInOwl:hasDbXref OMIM:300853 semapv:UnspecifiedMatching -Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oboInOwl:hasDbXref UMLS:C3275445 semapv:UnspecifiedMatching -Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching +Orphanet:317476 XMEN oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:317476 XMEN oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:317476 XMEN oboInOwl:hasDbXref OMIM:300853 semapv:UnspecifiedMatching +Orphanet:317476 XMEN oboInOwl:hasDbXref UMLS:C3275445 semapv:UnspecifiedMatching +Orphanet:317476 XMEN oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref ICD10:G25.3 semapv:UnspecifiedMatching Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome oboInOwl:hasDbXref OMIM:308350 semapv:UnspecifiedMatching @@ -28151,8 +27959,8 @@ Orphanet:318745 IKAROS family zinc finger 1 oboInOwl:hasDbXref uniprot:Q13422 se Orphanet:318754 protein kinase, DNA-activated, catalytic subunit oboInOwl:hasDbXref ENSEMBL:ENSG00000253729 semapv:UnspecifiedMatching Orphanet:318754 protein kinase, DNA-activated, catalytic subunit oboInOwl:hasDbXref OMIM:600899 semapv:UnspecifiedMatching Orphanet:318754 protein kinase, DNA-activated, catalytic subunit oboInOwl:hasDbXref uniprot:P78527 semapv:UnspecifiedMatching -Orphanet:3188 Congenital pulmonary veins atresia or stenosis oboInOwl:hasDbXref ICD10:Q26.3 semapv:UnspecifiedMatching -Orphanet:3188 Congenital pulmonary veins atresia or stenosis oboInOwl:hasDbXref ICD10:Q26.3 semapv:UnspecifiedMatching +Orphanet:3188 Congenital pulmonary veins atresia or stenosis oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:3188 Congenital pulmonary veins atresia or stenosis oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching Orphanet:3188 Congenital pulmonary veins atresia or stenosis oboInOwl:hasDbXref UMLS:C5680865 semapv:UnspecifiedMatching Orphanet:3188 Congenital pulmonary veins atresia or stenosis oboInOwl:hasDbXref icd11:LA86.3 semapv:UnspecifiedMatching Orphanet:318839 multiple EGF like domains 8 oboInOwl:hasDbXref ENSEMBL:ENSG00000105429 semapv:UnspecifiedMatching @@ -28241,7 +28049,10 @@ Orphanet:319205 Bilateral massive adrenal hemorrhage oboInOwl:hasDbXref ICD10:E2 Orphanet:319205 Bilateral massive adrenal hemorrhage oboInOwl:hasDbXref UMLS:C5679892 semapv:UnspecifiedMatching Orphanet:319213 Lujo hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 semapv:UnspecifiedMatching Orphanet:319213 Lujo hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 semapv:UnspecifiedMatching +Orphanet:319213 Lujo hemorrhagic fever oboInOwl:hasDbXref MESH:C000723471 semapv:UnspecifiedMatching +Orphanet:319213 Lujo hemorrhagic fever oboInOwl:hasDbXref MedDRA:10079325 semapv:UnspecifiedMatching Orphanet:319213 Lujo hemorrhagic fever oboInOwl:hasDbXref UMLS:C4274433 semapv:UnspecifiedMatching +Orphanet:319213 Lujo hemorrhagic fever oboInOwl:hasDbXref icd11:1D6Y semapv:UnspecifiedMatching Orphanet:319218 Ebola hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.4 semapv:UnspecifiedMatching Orphanet:319218 Ebola hemorrhagic fever oboInOwl:hasDbXref ICD10:A98.4 semapv:UnspecifiedMatching Orphanet:319218 Ebola hemorrhagic fever oboInOwl:hasDbXref MESH:D019142 semapv:UnspecifiedMatching @@ -28267,6 +28078,7 @@ Orphanet:319239 Brazilian hemorrhagic fever oboInOwl:hasDbXref UMLS:C0343633 sem Orphanet:319239 Brazilian hemorrhagic fever oboInOwl:hasDbXref icd11:1D6Y semapv:UnspecifiedMatching Orphanet:319244 Chapare hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 semapv:UnspecifiedMatching Orphanet:319244 Chapare hemorrhagic fever oboInOwl:hasDbXref ICD10:A96.8 semapv:UnspecifiedMatching +Orphanet:319244 Chapare hemorrhagic fever oboInOwl:hasDbXref MESH:C000723468 semapv:UnspecifiedMatching Orphanet:319244 Chapare hemorrhagic fever oboInOwl:hasDbXref UMLS:C4274434 semapv:UnspecifiedMatching Orphanet:319244 Chapare hemorrhagic fever oboInOwl:hasDbXref icd11:1D6Y semapv:UnspecifiedMatching Orphanet:319247 Hantavirus pulmonary syndrome oboInOwl:hasDbXref ICD10:B33.4+ semapv:UnspecifiedMatching @@ -28458,11 +28270,13 @@ Orphanet:319605 X-linked mendelian susceptibility to mycobacterial diseases oboI Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency oboInOwl:hasDbXref OMIM:300636 semapv:UnspecifiedMatching +Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency oboInOwl:hasDbXref UMLS:C1970879 semapv:UnspecifiedMatching Orphanet:319612 X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency oboInOwl:hasDbXref MESH:C567068 semapv:UnspecifiedMatching Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency oboInOwl:hasDbXref OMIM:300645 semapv:UnspecifiedMatching +Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency oboInOwl:hasDbXref UMLS:C1970859 semapv:UnspecifiedMatching Orphanet:319623 X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency oboInOwl:hasDbXref icd11:4A00.2 semapv:UnspecifiedMatching Orphanet:319635 Amyloidosis cutis dyschromia oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:319635 Amyloidosis cutis dyschromia oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching @@ -28485,16 +28299,6 @@ Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disea Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease oboInOwl:hasDbXref OMIM:613839 semapv:UnspecifiedMatching Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease oboInOwl:hasDbXref UMLS:C3151205 semapv:UnspecifiedMatching Orphanet:319651 Constitutional megaloblastic anemia with severe neurologic disease oboInOwl:hasDbXref icd11:3A02.Y semapv:UnspecifiedMatching -Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F70 semapv:UnspecifiedMatching -Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F70 semapv:UnspecifiedMatching -Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F71 semapv:UnspecifiedMatching -Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F71 semapv:UnspecifiedMatching -Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching -Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F72 semapv:UnspecifiedMatching -Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F73 semapv:UnspecifiedMatching -Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F73 semapv:UnspecifiedMatching -Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F78 semapv:UnspecifiedMatching -Orphanet:319658 NON RARE IN EUROPE: Unexplained intellectual disability oboInOwl:hasDbXref ICD10:F78 semapv:UnspecifiedMatching Orphanet:319667 Primary lymphoma of the conjunctiva oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching Orphanet:319667 Primary lymphoma of the conjunctiva oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching Orphanet:319667 Primary lymphoma of the conjunctiva oboInOwl:hasDbXref UMLS:C4706485 semapv:UnspecifiedMatching @@ -28511,14 +28315,6 @@ Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome oboInOwl:hasDbXref OMIM:614654 semapv:UnspecifiedMatching Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome oboInOwl:hasDbXref OMIM:616733 semapv:UnspecifiedMatching Orphanet:319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome oboInOwl:hasDbXref UMLS:C4706367 semapv:UnspecifiedMatching -Orphanet:319681 NON RARE IN EUROPE: Lactase non-persistence in adulthood oboInOwl:hasDbXref ICD10:E73.8 semapv:UnspecifiedMatching -Orphanet:319681 NON RARE IN EUROPE: Lactase non-persistence in adulthood oboInOwl:hasDbXref ICD10:E73.8 semapv:UnspecifiedMatching -Orphanet:319684 NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -Orphanet:319684 NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -Orphanet:319691 NON RARE IN EUROPE: Partial color blindness, protan type oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching -Orphanet:319691 NON RARE IN EUROPE: Partial color blindness, protan type oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching -Orphanet:319698 NON RARE IN EUROPE: Partial color blindness, deutan type oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching -Orphanet:319698 NON RARE IN EUROPE: Partial color blindness, deutan type oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching Orphanet:3197 Hereditary hyperekplexia oboInOwl:hasDbXref MESH:C538136 semapv:UnspecifiedMatching @@ -28665,9 +28461,9 @@ Orphanet:3205 Sturge-Weber syndrome oboInOwl:hasDbXref MedDRA:10042265 semapv:Un Orphanet:3205 Sturge-Weber syndrome oboInOwl:hasDbXref OMIM:185300 semapv:UnspecifiedMatching Orphanet:3205 Sturge-Weber syndrome oboInOwl:hasDbXref UMLS:C0038505 semapv:UnspecifiedMatching Orphanet:3205 Sturge-Weber syndrome oboInOwl:hasDbXref icd11:LD23 semapv:UnspecifiedMatching -Orphanet:320535 EPS8 like 3 oboInOwl:hasDbXref ENSEMBL:ENSG00000198758 semapv:UnspecifiedMatching -Orphanet:320535 EPS8 like 3 oboInOwl:hasDbXref OMIM:614989 semapv:UnspecifiedMatching -Orphanet:320535 EPS8 like 3 oboInOwl:hasDbXref uniprot:Q8TE67 semapv:UnspecifiedMatching +Orphanet:320535 EPS8 signaling adaptor L3 oboInOwl:hasDbXref ENSEMBL:ENSG00000198758 semapv:UnspecifiedMatching +Orphanet:320535 EPS8 signaling adaptor L3 oboInOwl:hasDbXref OMIM:614989 semapv:UnspecifiedMatching +Orphanet:320535 EPS8 signaling adaptor L3 oboInOwl:hasDbXref uniprot:Q8TE67 semapv:UnspecifiedMatching Orphanet:320542 adaptor related protein complex 2 subunit sigma 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000042753 semapv:UnspecifiedMatching Orphanet:320542 adaptor related protein complex 2 subunit sigma 1 oboInOwl:hasDbXref OMIM:602242 semapv:UnspecifiedMatching Orphanet:320542 adaptor related protein complex 2 subunit sigma 1 oboInOwl:hasDbXref uniprot:P53680 semapv:UnspecifiedMatching @@ -28701,6 +28497,7 @@ Orphanet:320793 actin gamma 2, smooth muscle oboInOwl:hasDbXref OMIM:102545 sema Orphanet:320793 actin gamma 2, smooth muscle oboInOwl:hasDbXref uniprot:P63267 semapv:UnspecifiedMatching Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching +Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref MESH:C565375 semapv:UnspecifiedMatching Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref OMIM:252011 semapv:UnspecifiedMatching Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref OMIM:619166 semapv:UnspecifiedMatching Orphanet:3208 Isolated succinate-CoQ reductase deficiency oboInOwl:hasDbXref OMIM:619167 semapv:UnspecifiedMatching @@ -28722,11 +28519,8 @@ Orphanet:3210 Summitt syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:Unspecified Orphanet:3210 Summitt syndrome oboInOwl:hasDbXref MESH:C538142 semapv:UnspecifiedMatching Orphanet:3210 Summitt syndrome oboInOwl:hasDbXref OMIM:272350 semapv:UnspecifiedMatching Orphanet:3210 Summitt syndrome oboInOwl:hasDbXref UMLS:C1802405 semapv:UnspecifiedMatching -Orphanet:3212 Autosomal dominant optic atrophy and congenital deafness oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching -Orphanet:3212 Autosomal dominant optic atrophy and congenital deafness oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching Orphanet:3212 Autosomal dominant optic atrophy and congenital deafness oboInOwl:hasDbXref OMIM:125250 semapv:UnspecifiedMatching Orphanet:3212 Autosomal dominant optic atrophy and congenital deafness oboInOwl:hasDbXref UMLS:C2931440 semapv:UnspecifiedMatching -Orphanet:3213 Deafness-opticoacoustic nerve atrophy-dementia syndrome oboInOwl:hasDbXref OMIM:304700 semapv:UnspecifiedMatching Orphanet:3213 Deafness-opticoacoustic nerve atrophy-dementia syndrome oboInOwl:hasDbXref UMLS:C1839564 semapv:UnspecifiedMatching Orphanet:321333 DNA damage inducible transcript 3 oboInOwl:hasDbXref ENSEMBL:ENSG00000175197 semapv:UnspecifiedMatching Orphanet:321333 DNA damage inducible transcript 3 oboInOwl:hasDbXref OMIM:126337 semapv:UnspecifiedMatching @@ -28798,8 +28592,6 @@ Orphanet:3220 Deafness-enamel hypoplasia-nail defects syndrome oboInOwl:hasDbXre Orphanet:322097 patatin like phospholipase domain containing 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000180316 semapv:UnspecifiedMatching Orphanet:322097 patatin like phospholipase domain containing 1 oboInOwl:hasDbXref OMIM:612121 semapv:UnspecifiedMatching Orphanet:322097 patatin like phospholipase domain containing 1 oboInOwl:hasDbXref uniprot:Q8N8W4 semapv:UnspecifiedMatching -Orphanet:3221 Generalized resistance to thyroid hormone oboInOwl:hasDbXref OMIM:188570 semapv:UnspecifiedMatching -Orphanet:3221 Generalized resistance to thyroid hormone oboInOwl:hasDbXref OMIM:274300 semapv:UnspecifiedMatching Orphanet:322104 leucine rich repeat, Ig-like and transmembrane domains 3 oboInOwl:hasDbXref ENSEMBL:ENSG00000183423 semapv:UnspecifiedMatching Orphanet:322104 leucine rich repeat, Ig-like and transmembrane domains 3 oboInOwl:hasDbXref OMIM:615004 semapv:UnspecifiedMatching Orphanet:322104 leucine rich repeat, Ig-like and transmembrane domains 3 oboInOwl:hasDbXref uniprot:Q3SXY7 semapv:UnspecifiedMatching @@ -28841,6 +28633,7 @@ Orphanet:3230 Deafness-oligodontia syndrome oboInOwl:hasDbXref UMLS:C1857333 sem Orphanet:3230 Deafness-oligodontia syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:3231 Deafness-onychodystrophy syndrome oboInOwl:hasDbXref OMIM:124480 semapv:UnspecifiedMatching Orphanet:3231 Deafness-onychodystrophy syndrome oboInOwl:hasDbXref OMIM:220500 semapv:UnspecifiedMatching +Orphanet:3231 Deafness-onychodystrophy syndrome oboInOwl:hasDbXref UMLS:C4751208 semapv:UnspecifiedMatching Orphanet:3232 Deafness-ear malformation-facial palsy syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:3232 Deafness-ear malformation-facial palsy syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:3232 Deafness-ear malformation-facial palsy syndrome oboInOwl:hasDbXref OMIM:124490 semapv:UnspecifiedMatching @@ -28931,6 +28724,7 @@ Orphanet:324251 VPS37A subunit of ESCRT-I oboInOwl:hasDbXref uniprot:Q8NEZ2 sema Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency oboInOwl:hasDbXref OMIM:614831 semapv:UnspecifiedMatching +Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency oboInOwl:hasDbXref UMLS:C3553816 semapv:UnspecifiedMatching Orphanet:324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency oboInOwl:hasDbXref icd11:5C50.Y semapv:UnspecifiedMatching Orphanet:324290 Early-onset Lafora body disease oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:324290 Early-onset Lafora body disease oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching @@ -29051,6 +28845,7 @@ Orphanet:324632 Hendra virus infection oboInOwl:hasDbXref UMLS:C4505487 semapv:U Orphanet:324636 Autoerythrocyte sensitization syndrome oboInOwl:hasDbXref ICD10:D69.2 semapv:UnspecifiedMatching Orphanet:324636 Autoerythrocyte sensitization syndrome oboInOwl:hasDbXref ICD10:D69.2 semapv:UnspecifiedMatching Orphanet:324636 Autoerythrocyte sensitization syndrome oboInOwl:hasDbXref MESH:C535645 semapv:UnspecifiedMatching +Orphanet:324636 Autoerythrocyte sensitization syndrome oboInOwl:hasDbXref MedDRA:10078888 semapv:UnspecifiedMatching Orphanet:324636 Autoerythrocyte sensitization syndrome oboInOwl:hasDbXref UMLS:C0301928 semapv:UnspecifiedMatching Orphanet:324636 Autoerythrocyte sensitization syndrome oboInOwl:hasDbXref icd11:ED02 semapv:UnspecifiedMatching Orphanet:324648 Invasive non-typhoidal salmonellosis oboInOwl:hasDbXref ICD10:A02.8 semapv:UnspecifiedMatching @@ -29099,11 +28894,11 @@ Orphanet:324737 SRD5A3-CDG oboInOwl:hasDbXref icd11:5C54.0 semapv:UnspecifiedMat Orphanet:324764 Trichorhinophalangeal syndrome oboInOwl:hasDbXref MedDRA:10051956 semapv:UnspecifiedMatching Orphanet:324764 Trichorhinophalangeal syndrome oboInOwl:hasDbXref UMLS:C0265255 semapv:UnspecifiedMatching Orphanet:324767 Non-familial rare disease with dilated cardiomyopathy oboInOwl:hasDbXref UMLS:C5680960 semapv:UnspecifiedMatching -Orphanet:3248 Distal symphalangism oboInOwl:hasDbXref ICD10:Q70.9 semapv:UnspecifiedMatching -Orphanet:3248 Distal symphalangism oboInOwl:hasDbXref ICD10:Q70.9 semapv:UnspecifiedMatching -Orphanet:3248 Distal symphalangism oboInOwl:hasDbXref OMIM:185700 semapv:UnspecifiedMatching -Orphanet:3248 Distal symphalangism oboInOwl:hasDbXref UMLS:C1861401 semapv:UnspecifiedMatching -Orphanet:3248 Distal symphalangism oboInOwl:hasDbXref icd11:LB90.Y semapv:UnspecifiedMatching +Orphanet:3248 Isolated distal symphalangism oboInOwl:hasDbXref ICD10:Q70.9 semapv:UnspecifiedMatching +Orphanet:3248 Isolated distal symphalangism oboInOwl:hasDbXref ICD10:Q70.9 semapv:UnspecifiedMatching +Orphanet:3248 Isolated distal symphalangism oboInOwl:hasDbXref OMIM:185700 semapv:UnspecifiedMatching +Orphanet:3248 Isolated distal symphalangism oboInOwl:hasDbXref UMLS:C1861401 semapv:UnspecifiedMatching +Orphanet:3248 Isolated distal symphalangism oboInOwl:hasDbXref icd11:LB90.Y semapv:UnspecifiedMatching Orphanet:324927 Pyogenic autoinflammatory syndrome oboInOwl:hasDbXref UMLS:C5680956 semapv:UnspecifiedMatching Orphanet:324930 Granulomatous autoinflammatory syndrome oboInOwl:hasDbXref UMLS:C5680957 semapv:UnspecifiedMatching Orphanet:324933 Mixed autoinflammatory and autoimmune syndrome oboInOwl:hasDbXref UMLS:C5680958 semapv:UnspecifiedMatching @@ -29129,8 +28924,6 @@ Orphanet:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXr Orphanet:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref OMIM:618048 semapv:UnspecifiedMatching Orphanet:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref OMIM:619175 semapv:UnspecifiedMatching Orphanet:324977 Proteasome-associated autoinflammatory syndrome oboInOwl:hasDbXref OMIM:619183 semapv:UnspecifiedMatching -Orphanet:324999 JMP syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -Orphanet:324999 JMP syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:325 Congenital factor II deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching Orphanet:325 Congenital factor II deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching Orphanet:325 Congenital factor II deficiency oboInOwl:hasDbXref MedDRA:10016076 semapv:UnspecifiedMatching @@ -29144,8 +28937,6 @@ Orphanet:3250 Proximal symphalangism oboInOwl:hasDbXref OMIM:185800 semapv:Unspe Orphanet:3250 Proximal symphalangism oboInOwl:hasDbXref OMIM:615298 semapv:UnspecifiedMatching Orphanet:3250 Proximal symphalangism oboInOwl:hasDbXref UMLS:C1861385 semapv:UnspecifiedMatching Orphanet:3250 Proximal symphalangism oboInOwl:hasDbXref icd11:LB90.Y semapv:UnspecifiedMatching -Orphanet:325004 CANDLE syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -Orphanet:325004 CANDLE syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:325017 cytochrome c oxidase subunit 7B oboInOwl:hasDbXref ENSEMBL:ENSG00000131174 semapv:UnspecifiedMatching Orphanet:325017 cytochrome c oxidase subunit 7B oboInOwl:hasDbXref OMIM:300885 semapv:UnspecifiedMatching Orphanet:325017 cytochrome c oxidase subunit 7B oboInOwl:hasDbXref uniprot:P24311 semapv:UnspecifiedMatching @@ -29267,7 +29058,6 @@ Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref MESH:D0 Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref MedDRA:10069521 semapv:UnspecifiedMatching Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref OMIM:601859 semapv:UnspecifiedMatching Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref OMIM:603909 semapv:UnspecifiedMatching -Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref OMIM:615559 semapv:UnspecifiedMatching Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref OMIM:618534 semapv:UnspecifiedMatching Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref UMLS:C1328840 semapv:UnspecifiedMatching Orphanet:3261 Autoimmune lymphoproliferative syndrome oboInOwl:hasDbXref icd11:4A01.22 semapv:UnspecifiedMatching @@ -29277,19 +29067,18 @@ Orphanet:3262 Dobrow syndrome oboInOwl:hasDbXref UMLS:C5190737 semapv:Unspecifie Orphanet:3263 Syngnathia-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching Orphanet:3263 Syngnathia-cleft palate syndrome oboInOwl:hasDbXref ICD10:Q18.8 semapv:UnspecifiedMatching Orphanet:3263 Syngnathia-cleft palate syndrome oboInOwl:hasDbXref UMLS:C5680792 semapv:UnspecifiedMatching -Orphanet:3265 Humero-radial synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -Orphanet:3265 Humero-radial synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -Orphanet:3265 Humero-radial synostosis oboInOwl:hasDbXref OMIM:143050 semapv:UnspecifiedMatching -Orphanet:3265 Humero-radial synostosis oboInOwl:hasDbXref OMIM:236400 semapv:UnspecifiedMatching -Orphanet:3265 Humero-radial synostosis oboInOwl:hasDbXref UMLS:C2930865 semapv:UnspecifiedMatching -Orphanet:3265 Humero-radial synostosis oboInOwl:hasDbXref icd11:LB90.1 semapv:UnspecifiedMatching +Orphanet:3265 Isolated humero-radial synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:3265 Isolated humero-radial synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:3265 Isolated humero-radial synostosis oboInOwl:hasDbXref OMIM:236400 semapv:UnspecifiedMatching +Orphanet:3265 Isolated humero-radial synostosis oboInOwl:hasDbXref UMLS:C2930865 semapv:UnspecifiedMatching +Orphanet:3265 Isolated humero-radial synostosis oboInOwl:hasDbXref icd11:LB90.1 semapv:UnspecifiedMatching Orphanet:326554 polyhomeotic homolog 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000111752 semapv:UnspecifiedMatching Orphanet:326554 polyhomeotic homolog 1 oboInOwl:hasDbXref OMIM:602978 semapv:UnspecifiedMatching Orphanet:326554 polyhomeotic homolog 1 oboInOwl:hasDbXref uniprot:P78364 semapv:UnspecifiedMatching -Orphanet:3266 Humero-radio-ulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -Orphanet:3266 Humero-radio-ulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -Orphanet:3266 Humero-radio-ulnar synostosis oboInOwl:hasDbXref UMLS:C4751207 semapv:UnspecifiedMatching -Orphanet:3266 Humero-radio-ulnar synostosis oboInOwl:hasDbXref icd11:LB90.0 semapv:UnspecifiedMatching +Orphanet:3266 Isolated humero-radio-ulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:3266 Isolated humero-radio-ulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:3266 Isolated humero-radio-ulnar synostosis oboInOwl:hasDbXref UMLS:C4751207 semapv:UnspecifiedMatching +Orphanet:3266 Isolated humero-radio-ulnar synostosis oboInOwl:hasDbXref icd11:LB90.0 semapv:UnspecifiedMatching Orphanet:326692 disrupted in renal carcinoma 3 oboInOwl:hasDbXref ENSEMBL:ENSG00000231672 semapv:UnspecifiedMatching Orphanet:326692 disrupted in renal carcinoma 3 oboInOwl:hasDbXref OMIM:608262 semapv:UnspecifiedMatching Orphanet:326692 disrupted in renal carcinoma 3 oboInOwl:hasDbXref uniprot:C9JPN6 semapv:UnspecifiedMatching @@ -29316,11 +29105,11 @@ Orphanet:326843 MIB E3 ubiquitin protein ligase 1 oboInOwl:hasDbXref uniprot:Q86 Orphanet:326886 killin, p53 regulated DNA replication inhibitor oboInOwl:hasDbXref ENSEMBL:ENSG00000227268 semapv:UnspecifiedMatching Orphanet:326886 killin, p53 regulated DNA replication inhibitor oboInOwl:hasDbXref OMIM:612105 semapv:UnspecifiedMatching Orphanet:326886 killin, p53 regulated DNA replication inhibitor oboInOwl:hasDbXref uniprot:B2CW77 semapv:UnspecifiedMatching -Orphanet:3269 Congenital radioulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -Orphanet:3269 Congenital radioulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -Orphanet:3269 Congenital radioulnar synostosis oboInOwl:hasDbXref OMIM:179300 semapv:UnspecifiedMatching -Orphanet:3269 Congenital radioulnar synostosis oboInOwl:hasDbXref UMLS:C5679809 semapv:UnspecifiedMatching -Orphanet:3269 Congenital radioulnar synostosis oboInOwl:hasDbXref icd11:LB90.3 semapv:UnspecifiedMatching +Orphanet:3269 Isolated radio-ulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:3269 Isolated radio-ulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:3269 Isolated radio-ulnar synostosis oboInOwl:hasDbXref OMIM:179300 semapv:UnspecifiedMatching +Orphanet:3269 Isolated radio-ulnar synostosis oboInOwl:hasDbXref UMLS:C5679809 semapv:UnspecifiedMatching +Orphanet:3269 Isolated radio-ulnar synostosis oboInOwl:hasDbXref icd11:LB90.3 semapv:UnspecifiedMatching Orphanet:327 Congenital factor VII deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching Orphanet:327 Congenital factor VII deficiency oboInOwl:hasDbXref ICD10:D68.2 semapv:UnspecifiedMatching Orphanet:327 Congenital factor VII deficiency oboInOwl:hasDbXref MESH:D005168 semapv:UnspecifiedMatching @@ -29450,8 +29239,6 @@ Orphanet:328770 ubiquinol-cytochrome c reductase core protein 2 oboInOwl:hasDbXr Orphanet:328840 myopalladin oboInOwl:hasDbXref ENSEMBL:ENSG00000138347 semapv:UnspecifiedMatching Orphanet:328840 myopalladin oboInOwl:hasDbXref OMIM:608517 semapv:UnspecifiedMatching Orphanet:328840 myopalladin oboInOwl:hasDbXref uniprot:Q86TC9 semapv:UnspecifiedMatching -Orphanet:3289 NON RARE IN EUROPE: Taurodontism oboInOwl:hasDbXref ICD10:K00.2 semapv:UnspecifiedMatching -Orphanet:3289 NON RARE IN EUROPE: Taurodontism oboInOwl:hasDbXref ICD10:K00.2 semapv:UnspecifiedMatching Orphanet:328915 integrin subunit alpha 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000164171 semapv:UnspecifiedMatching Orphanet:328915 integrin subunit alpha 2 oboInOwl:hasDbXref OMIM:192974 semapv:UnspecifiedMatching Orphanet:328915 integrin subunit alpha 2 oboInOwl:hasDbXref uniprot:P17301 semapv:UnspecifiedMatching @@ -29505,10 +29292,10 @@ Orphanet:329217 Cerebral sinovenous thrombosis oboInOwl:hasDbXref ICD10:I67.6 se Orphanet:329217 Cerebral sinovenous thrombosis oboInOwl:hasDbXref ICD10:I67.6 semapv:UnspecifiedMatching Orphanet:329217 Cerebral sinovenous thrombosis oboInOwl:hasDbXref UMLS:C0338573 semapv:UnspecifiedMatching Orphanet:329217 Cerebral sinovenous thrombosis oboInOwl:hasDbXref icd11:8B22 semapv:UnspecifiedMatching -Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome oboInOwl:hasDbXref OMIM:615009 semapv:UnspecifiedMatching -Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome oboInOwl:hasDbXref UMLS:C4751005 semapv:UnspecifiedMatching +Orphanet:329224 Schuurs-Hoeijmakers syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:329224 Schuurs-Hoeijmakers syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:329224 Schuurs-Hoeijmakers syndrome oboInOwl:hasDbXref OMIM:615009 semapv:UnspecifiedMatching +Orphanet:329224 Schuurs-Hoeijmakers syndrome oboInOwl:hasDbXref UMLS:C4751005 semapv:UnspecifiedMatching Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency oboInOwl:hasDbXref OMIM:615095 semapv:UnspecifiedMatching @@ -29524,10 +29311,8 @@ Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy oboI Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy oboInOwl:hasDbXref UMLS:C4751003 semapv:UnspecifiedMatching Orphanet:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching Orphanet:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency oboInOwl:hasDbXref ICD10:E66.8 semapv:UnspecifiedMatching +Orphanet:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency oboInOwl:hasDbXref UMLS:C5190989 semapv:UnspecifiedMatching Orphanet:329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency oboInOwl:hasDbXref icd11:5B81.Y semapv:UnspecifiedMatching -Orphanet:329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -Orphanet:329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -Orphanet:329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency oboInOwl:hasDbXref OMIM:244450 semapv:UnspecifiedMatching Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q oboInOwl:hasDbXref OMIM:615025 semapv:UnspecifiedMatching @@ -29565,6 +29350,8 @@ Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mi Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy oboInOwl:hasDbXref OMIM:616479 semapv:UnspecifiedMatching Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy oboInOwl:hasDbXref UMLS:C4511138 semapv:UnspecifiedMatching +Orphanet:3294 Extensor tendons of finger anomalies oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:3294 Extensor tendons of finger anomalies oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching Orphanet:3294 Extensor tendons of finger anomalies oboInOwl:hasDbXref MESH:C536960 semapv:UnspecifiedMatching Orphanet:3294 Extensor tendons of finger anomalies oboInOwl:hasDbXref OMIM:187390 semapv:UnspecifiedMatching Orphanet:3294 Extensor tendons of finger anomalies oboInOwl:hasDbXref UMLS:C2931376 semapv:UnspecifiedMatching @@ -29576,10 +29363,10 @@ Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type oboInOwl:hasDbXref Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type oboInOwl:hasDbXref OMIM:615073 semapv:UnspecifiedMatching Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type oboInOwl:hasDbXref UMLS:C4304670 semapv:UnspecifiedMatching -Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching -Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching -Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome oboInOwl:hasDbXref UMLS:C5679860 semapv:UnspecifiedMatching -Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome oboInOwl:hasDbXref icd11:2A60.36 semapv:UnspecifiedMatching +Orphanet:329469 Acute megakaryoblastic leukemia in children without Down syndrome oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching +Orphanet:329469 Acute megakaryoblastic leukemia in children without Down syndrome oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching +Orphanet:329469 Acute megakaryoblastic leukemia in children without Down syndrome oboInOwl:hasDbXref UMLS:C5679860 semapv:UnspecifiedMatching +Orphanet:329469 Acute megakaryoblastic leukemia in children without Down syndrome oboInOwl:hasDbXref icd11:2A60.36 semapv:UnspecifiedMatching Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome oboInOwl:hasDbXref UMLS:C4511969 semapv:UnspecifiedMatching @@ -29679,8 +29466,6 @@ Orphanet:330001 Wild type ATTR amyloidosis oboInOwl:hasDbXref ICD10:E85.8 semapv Orphanet:330001 Wild type ATTR amyloidosis oboInOwl:hasDbXref ICD10:E85.8 semapv:UnspecifiedMatching Orphanet:330001 Wild type ATTR amyloidosis oboInOwl:hasDbXref UMLS:C0342623 semapv:UnspecifiedMatching Orphanet:330001 Wild type ATTR amyloidosis oboInOwl:hasDbXref icd11:BC43.20 semapv:UnspecifiedMatching -Orphanet:330006 NON RARE IN EUROPE: Macular telangiectasia type 2 oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching -Orphanet:330006 NON RARE IN EUROPE: Macular telangiectasia type 2 oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching Orphanet:33001 Lymphedema-distichiasis syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching Orphanet:33001 Lymphedema-distichiasis syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching Orphanet:33001 Lymphedema-distichiasis syndrome oboInOwl:hasDbXref MESH:C537710 semapv:UnspecifiedMatching @@ -29726,11 +29511,13 @@ Orphanet:330054 Congenital cataract-progressive muscular hypotonia-hearing loss- Orphanet:330058 Hydroa vacciniforme oboInOwl:hasDbXref ICD10:L56.4 semapv:UnspecifiedMatching Orphanet:330058 Hydroa vacciniforme oboInOwl:hasDbXref ICD10:L56.4 semapv:UnspecifiedMatching Orphanet:330058 Hydroa vacciniforme oboInOwl:hasDbXref MESH:D006837 semapv:UnspecifiedMatching +Orphanet:330058 Hydroa vacciniforme oboInOwl:hasDbXref MedDRA:10083442 semapv:UnspecifiedMatching Orphanet:330058 Hydroa vacciniforme oboInOwl:hasDbXref UMLS:C0020241 semapv:UnspecifiedMatching Orphanet:330058 Hydroa vacciniforme oboInOwl:hasDbXref icd11:EJ30.Y semapv:UnspecifiedMatching Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref ICD10:L56.4 semapv:UnspecifiedMatching Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref ICD10:L56.4 semapv:UnspecifiedMatching Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref MESH:C566780 semapv:UnspecifiedMatching +Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref MedDRA:10000616 semapv:UnspecifiedMatching Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref OMIM:174770 semapv:UnspecifiedMatching Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref UMLS:C0406217 semapv:UnspecifiedMatching Orphanet:330061 Actinic prurigo oboInOwl:hasDbXref icd11:EJ30.Y semapv:UnspecifiedMatching @@ -29881,20 +29668,22 @@ Orphanet:33111 Granulomatous slack skin oboInOwl:hasDbXref ICD10:C84.0 semapv:Un Orphanet:33111 Granulomatous slack skin oboInOwl:hasDbXref UMLS:C0376407 semapv:UnspecifiedMatching Orphanet:33111 Granulomatous slack skin oboInOwl:hasDbXref icd11:2B01 semapv:UnspecifiedMatching Orphanet:33111 Granulomatous slack skin oboInOwl:hasDbXref icd11:XH0EH1 semapv:UnspecifiedMatching -Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref MESH:C567260 semapv:UnspecifiedMatching -Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref OMIM:612541 semapv:UnspecifiedMatching -Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching -Orphanet:331184 Constitutional neutropenia with extra-hematopoietic manifestations oboInOwl:hasDbXref UMLS:C5680943 semapv:UnspecifiedMatching +Orphanet:331176 Severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:331176 Severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:331176 Severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref MESH:C567260 semapv:UnspecifiedMatching +Orphanet:331176 Severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref OMIM:612541 semapv:UnspecifiedMatching +Orphanet:331176 Severe congenital neutropenia due to G6PC3 deficiency oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching +Orphanet:331184 Syndrome with congenital neutropenia as a major feature oboInOwl:hasDbXref UMLS:C5680943 semapv:UnspecifiedMatching Orphanet:331187 Immunodeficiency due to MASP-2 deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:331187 Immunodeficiency due to MASP-2 deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:331187 Immunodeficiency due to MASP-2 deficiency oboInOwl:hasDbXref OMIM:613791 semapv:UnspecifiedMatching Orphanet:331187 Immunodeficiency due to MASP-2 deficiency oboInOwl:hasDbXref UMLS:C4749651 semapv:UnspecifiedMatching +Orphanet:331187 Immunodeficiency due to MASP-2 deficiency oboInOwl:hasDbXref icd11:4A00.1Y semapv:UnspecifiedMatching Orphanet:331190 Immunodeficiency due to ficolin3 deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:331190 Immunodeficiency due to ficolin3 deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:331190 Immunodeficiency due to ficolin3 deficiency oboInOwl:hasDbXref OMIM:613860 semapv:UnspecifiedMatching Orphanet:331190 Immunodeficiency due to ficolin3 deficiency oboInOwl:hasDbXref UMLS:C5680944 semapv:UnspecifiedMatching +Orphanet:331190 Immunodeficiency due to ficolin3 deficiency oboInOwl:hasDbXref icd11:4A00.1Y semapv:UnspecifiedMatching Orphanet:331193 Other immunodeficiency syndromes due to defects in innate immunity oboInOwl:hasDbXref UMLS:C5680945 semapv:UnspecifiedMatching Orphanet:3312 Thalidomide embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching Orphanet:3312 Thalidomide embryopathy oboInOwl:hasDbXref ICD10:Q86.8 semapv:UnspecifiedMatching @@ -29905,7 +29694,7 @@ Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficien Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency oboInOwl:hasDbXref ICD10:D81.1 semapv:UnspecifiedMatching Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency oboInOwl:hasDbXref OMIM:601457 semapv:UnspecifiedMatching Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency oboInOwl:hasDbXref UMLS:C5679852 semapv:UnspecifiedMatching -Orphanet:331220 Immunodeficiency due to absence of thymus oboInOwl:hasDbXref UMLS:C5680946 semapv:UnspecifiedMatching +Orphanet:331220 Syndome with combined immunodeficiency due to thymic defect oboInOwl:hasDbXref UMLS:C5680946 semapv:UnspecifiedMatching Orphanet:331223 Hyper-IgE syndrome oboInOwl:hasDbXref MedDRA:10051040 semapv:UnspecifiedMatching Orphanet:331223 Hyper-IgE syndrome oboInOwl:hasDbXref UMLS:C3887645 semapv:UnspecifiedMatching Orphanet:331223 Hyper-IgE syndrome oboInOwl:hasDbXref icd11:4A01.34 semapv:UnspecifiedMatching @@ -29917,13 +29706,14 @@ Orphanet:331226 Susceptibility to infection due to TYK2 deficiency oboInOwl:hasD Orphanet:331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells oboInOwl:hasDbXref UMLS:C5680939 semapv:UnspecifiedMatching Orphanet:331235 Selective IgM deficiency oboInOwl:hasDbXref ICD10:D80.4 semapv:UnspecifiedMatching Orphanet:331235 Selective IgM deficiency oboInOwl:hasDbXref ICD10:D80.4 semapv:UnspecifiedMatching +Orphanet:331235 Selective IgM deficiency oboInOwl:hasDbXref MedDRA:10039916 semapv:UnspecifiedMatching Orphanet:331235 Selective IgM deficiency oboInOwl:hasDbXref UMLS:C0154275 semapv:UnspecifiedMatching Orphanet:331235 Selective IgM deficiency oboInOwl:hasDbXref icd11:4A01.04 semapv:UnspecifiedMatching Orphanet:331240 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells oboInOwl:hasDbXref UMLS:C5680941 semapv:UnspecifiedMatching Orphanet:331240 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells oboInOwl:hasDbXref icd11:4A01.05 semapv:UnspecifiedMatching Orphanet:331244 Other immunodeficiency syndrome with predominantly antibody defects oboInOwl:hasDbXref UMLS:C5680940 semapv:UnspecifiedMatching -Orphanet:331249 Immunodeficiency syndrome with hypopigmentation oboInOwl:hasDbXref UMLS:C5680942 semapv:UnspecifiedMatching -Orphanet:331249 Immunodeficiency syndrome with hypopigmentation oboInOwl:hasDbXref icd11:4A01.20 semapv:UnspecifiedMatching +Orphanet:331249 Primary hemophagocytic lymphohistiocytosis with hypopigmentation oboInOwl:hasDbXref UMLS:C5680942 semapv:UnspecifiedMatching +Orphanet:331249 Primary hemophagocytic lymphohistiocytosis with hypopigmentation oboInOwl:hasDbXref icd11:4A01.20 semapv:UnspecifiedMatching Orphanet:3314 Thiemann disease, familial form oboInOwl:hasDbXref ICD10:M93.2 semapv:UnspecifiedMatching Orphanet:3314 Thiemann disease, familial form oboInOwl:hasDbXref ICD10:M93.2 semapv:UnspecifiedMatching Orphanet:3314 Thiemann disease, familial form oboInOwl:hasDbXref MESH:C537144 semapv:UnspecifiedMatching @@ -30110,8 +29900,6 @@ Orphanet:3327 Thyrocerebrorenal syndrome oboInOwl:hasDbXref ICD10:N15.8 semapv:U Orphanet:3327 Thyrocerebrorenal syndrome oboInOwl:hasDbXref ICD10:N15.8 semapv:UnspecifiedMatching Orphanet:3327 Thyrocerebrorenal syndrome oboInOwl:hasDbXref OMIM:274240 semapv:UnspecifiedMatching Orphanet:3327 Thyrocerebrorenal syndrome oboInOwl:hasDbXref UMLS:C4518579 semapv:UnspecifiedMatching -Orphanet:33271 NON RARE IN EUROPE: Non-alcoholic fatty liver disease oboInOwl:hasDbXref ICD10:K76.0 semapv:UnspecifiedMatching -Orphanet:33271 NON RARE IN EUROPE: Non-alcoholic fatty liver disease oboInOwl:hasDbXref ICD10:K76.0 semapv:UnspecifiedMatching Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.0 semapv:UnspecifiedMatching Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.0 semapv:UnspecifiedMatching Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref ICD10:C46.1 semapv:UnspecifiedMatching @@ -30134,9 +29922,12 @@ Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref icd11:1C60.30 semapv:Unspecifie Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref icd11:1C61.30 semapv:UnspecifiedMatching Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref icd11:2B57 semapv:UnspecifiedMatching Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref icd11:2B57.0 semapv:UnspecifiedMatching +Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref icd11:2B57.1 semapv:UnspecifiedMatching Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref icd11:2B57.2 semapv:UnspecifiedMatching Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref icd11:2B57.Y semapv:UnspecifiedMatching Orphanet:33276 Kaposi sarcoma oboInOwl:hasDbXref icd11:XH36A5 semapv:UnspecifiedMatching +Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome oboInOwl:hasDbXref MESH:C536918 semapv:UnspecifiedMatching Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome oboInOwl:hasDbXref OMIM:601027 semapv:UnspecifiedMatching Orphanet:3328 Absent tibia-polydactyly-arachnoid cyst syndrome oboInOwl:hasDbXref UMLS:C4518567 semapv:UnspecifiedMatching @@ -30168,11 +29959,9 @@ Orphanet:333104 crystallin gamma B oboInOwl:hasDbXref OMIM:123670 semapv:Unspeci Orphanet:333104 crystallin gamma B oboInOwl:hasDbXref uniprot:P07316 semapv:UnspecifiedMatching Orphanet:33314 Jessner lymphocytic infiltration of the skin oboInOwl:hasDbXref ICD10:L98.6 semapv:UnspecifiedMatching Orphanet:33314 Jessner lymphocytic infiltration of the skin oboInOwl:hasDbXref ICD10:L98.6 semapv:UnspecifiedMatching +Orphanet:33314 Jessner lymphocytic infiltration of the skin oboInOwl:hasDbXref MedDRA:10063628 semapv:UnspecifiedMatching Orphanet:33314 Jessner lymphocytic infiltration of the skin oboInOwl:hasDbXref UMLS:C0580181 semapv:UnspecifiedMatching Orphanet:33314 Jessner lymphocytic infiltration of the skin oboInOwl:hasDbXref icd11:EE90 semapv:UnspecifiedMatching -Orphanet:3332 Hypoplastic tibiae-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -Orphanet:3332 Hypoplastic tibiae-postaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -Orphanet:3332 Hypoplastic tibiae-postaxial polydactyly syndrome oboInOwl:hasDbXref OMIM:188740 semapv:UnspecifiedMatching Orphanet:33355 Reticular dysgenesis oboInOwl:hasDbXref ICD10:D81.0 semapv:UnspecifiedMatching Orphanet:33355 Reticular dysgenesis oboInOwl:hasDbXref ICD10:D81.0 semapv:UnspecifiedMatching Orphanet:33355 Reticular dysgenesis oboInOwl:hasDbXref MESH:C538361 semapv:UnspecifiedMatching @@ -30208,12 +29997,12 @@ Orphanet:3338 Toriello-Carey syndrome oboInOwl:hasDbXref MESH:C563127 semapv:Uns Orphanet:3338 Toriello-Carey syndrome oboInOwl:hasDbXref OMIM:217980 semapv:UnspecifiedMatching Orphanet:3338 Toriello-Carey syndrome oboInOwl:hasDbXref UMLS:C0796184 semapv:UnspecifiedMatching Orphanet:3338 Toriello-Carey syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching -Orphanet:3339 Toriello-Lacassie-Droste syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -Orphanet:3339 Toriello-Lacassie-Droste syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -Orphanet:3339 Toriello-Lacassie-Droste syndrome oboInOwl:hasDbXref MESH:C563969 semapv:UnspecifiedMatching -Orphanet:3339 Toriello-Lacassie-Droste syndrome oboInOwl:hasDbXref OMIM:600268 semapv:UnspecifiedMatching -Orphanet:3339 Toriello-Lacassie-Droste syndrome oboInOwl:hasDbXref UMLS:C1838329 semapv:UnspecifiedMatching -Orphanet:3339 Toriello-Lacassie-Droste syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching +Orphanet:3339 Oculoectodermal syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:3339 Oculoectodermal syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching +Orphanet:3339 Oculoectodermal syndrome oboInOwl:hasDbXref MESH:C563969 semapv:UnspecifiedMatching +Orphanet:3339 Oculoectodermal syndrome oboInOwl:hasDbXref OMIM:600268 semapv:UnspecifiedMatching +Orphanet:3339 Oculoectodermal syndrome oboInOwl:hasDbXref UMLS:C1838329 semapv:UnspecifiedMatching +Orphanet:3339 Oculoectodermal syndrome oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref ICD10:I48.9 semapv:UnspecifiedMatching Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref ICD10:I48.9 semapv:UnspecifiedMatching Orphanet:334 Familial atrial fibrillation oboInOwl:hasDbXref MedDRA:10088317 semapv:UnspecifiedMatching @@ -30409,7 +30198,7 @@ Orphanet:337 Fibrodysplasia ossificans progressiva oboInOwl:hasDbXref UMLS:C0016 Orphanet:337 Fibrodysplasia ossificans progressiva oboInOwl:hasDbXref icd11:FB31.1 semapv:UnspecifiedMatching Orphanet:3374 Unilateral ocular duplication oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching Orphanet:3374 Unilateral ocular duplication oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching -Orphanet:3374 Unilateral ocular duplication oboInOwl:hasDbXref UMLS:C5680747 semapv:UnspecifiedMatching +Orphanet:3374 Unilateral ocular duplication oboInOwl:hasDbXref UMLS:C5816687 semapv:UnspecifiedMatching Orphanet:3375 Trisomy X oboInOwl:hasDbXref ICD10:Q97.0 semapv:UnspecifiedMatching Orphanet:3375 Trisomy X oboInOwl:hasDbXref ICD10:Q97.0 semapv:UnspecifiedMatching Orphanet:3375 Trisomy X oboInOwl:hasDbXref MESH:C535318 semapv:UnspecifiedMatching @@ -30460,12 +30249,12 @@ Orphanet:3383 Humerus trochlea aplasia oboInOwl:hasDbXref ICD10:Q74.0 semapv:Uns Orphanet:3383 Humerus trochlea aplasia oboInOwl:hasDbXref MESH:C566022 semapv:UnspecifiedMatching Orphanet:3383 Humerus trochlea aplasia oboInOwl:hasDbXref OMIM:191000 semapv:UnspecifiedMatching Orphanet:3383 Humerus trochlea aplasia oboInOwl:hasDbXref UMLS:C1860773 semapv:UnspecifiedMatching -Orphanet:3384 Truncus arteriosus oboInOwl:hasDbXref ICD10:Q20.0 semapv:UnspecifiedMatching -Orphanet:3384 Truncus arteriosus oboInOwl:hasDbXref ICD10:Q20.0 semapv:UnspecifiedMatching -Orphanet:3384 Truncus arteriosus oboInOwl:hasDbXref MESH:D014339 semapv:UnspecifiedMatching -Orphanet:3384 Truncus arteriosus oboInOwl:hasDbXref OMIM:217095 semapv:UnspecifiedMatching -Orphanet:3384 Truncus arteriosus oboInOwl:hasDbXref UMLS:C0041207 semapv:UnspecifiedMatching -Orphanet:3384 Truncus arteriosus oboInOwl:hasDbXref icd11:LA85.4 semapv:UnspecifiedMatching +Orphanet:3384 Common arterial trunk oboInOwl:hasDbXref ICD10:Q20.0 semapv:UnspecifiedMatching +Orphanet:3384 Common arterial trunk oboInOwl:hasDbXref ICD10:Q20.0 semapv:UnspecifiedMatching +Orphanet:3384 Common arterial trunk oboInOwl:hasDbXref MESH:D014339 semapv:UnspecifiedMatching +Orphanet:3384 Common arterial trunk oboInOwl:hasDbXref OMIM:217095 semapv:UnspecifiedMatching +Orphanet:3384 Common arterial trunk oboInOwl:hasDbXref UMLS:C0041207 semapv:UnspecifiedMatching +Orphanet:3384 Common arterial trunk oboInOwl:hasDbXref icd11:LA85.4 semapv:UnspecifiedMatching Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref ICD10:B56.0 semapv:UnspecifiedMatching Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref ICD10:B56.0 semapv:UnspecifiedMatching Orphanet:3385 African trypanosomiasis oboInOwl:hasDbXref ICD10:B56.1 semapv:UnspecifiedMatching @@ -30496,7 +30285,6 @@ Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref icd11:1F53.1 semapv:Un Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref icd11:1F53.2 semapv:UnspecifiedMatching Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref icd11:1F53.3 semapv:UnspecifiedMatching Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref icd11:1F53.4 semapv:UnspecifiedMatching -Orphanet:3386 American trypanosomiasis oboInOwl:hasDbXref icd11:IF53.Y semapv:UnspecifiedMatching Orphanet:3387 Isolated anterior cervical hypertrichosis oboInOwl:hasDbXref ICD10:L68.2 semapv:UnspecifiedMatching Orphanet:3387 Isolated anterior cervical hypertrichosis oboInOwl:hasDbXref ICD10:L68.2 semapv:UnspecifiedMatching Orphanet:3387 Isolated anterior cervical hypertrichosis oboInOwl:hasDbXref MESH:C538390 semapv:UnspecifiedMatching @@ -30504,6 +30292,7 @@ Orphanet:3387 Isolated anterior cervical hypertrichosis oboInOwl:hasDbXref OMIM: Orphanet:3387 Isolated anterior cervical hypertrichosis oboInOwl:hasDbXref UMLS:C1838123 semapv:UnspecifiedMatching Orphanet:3388 Neural tube defect oboInOwl:hasDbXref MESH:D009436 semapv:UnspecifiedMatching Orphanet:3388 Neural tube defect oboInOwl:hasDbXref MedDRA:10052046 semapv:UnspecifiedMatching +Orphanet:3388 Neural tube defect oboInOwl:hasDbXref UMLS:C0027794 semapv:UnspecifiedMatching Orphanet:3389 Tuberculosis oboInOwl:hasDbXref ICD10:A15 semapv:UnspecifiedMatching Orphanet:3389 Tuberculosis oboInOwl:hasDbXref ICD10:A15 semapv:UnspecifiedMatching Orphanet:3389 Tuberculosis oboInOwl:hasDbXref ICD10:A16 semapv:UnspecifiedMatching @@ -30603,11 +30392,12 @@ Orphanet:3412 VACTERL with hydrocephalus oboInOwl:hasDbXref ICD10:Q87.8 semapv:U Orphanet:3412 VACTERL with hydrocephalus oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3412 VACTERL with hydrocephalus oboInOwl:hasDbXref OMIM:276950 semapv:UnspecifiedMatching Orphanet:3412 VACTERL with hydrocephalus oboInOwl:hasDbXref OMIM:314390 semapv:UnspecifiedMatching -Orphanet:3412 VACTERL with hydrocephalus oboInOwl:hasDbXref UMLS:C5679759 semapv:UnspecifiedMatching +Orphanet:3412 VACTERL with hydrocephalus oboInOwl:hasDbXref UMLS:C4305002 semapv:UnspecifiedMatching Orphanet:3412 VACTERL with hydrocephalus oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:34145 Immunoglobulin A nephropathy oboInOwl:hasDbXref ICD10:N02 semapv:UnspecifiedMatching Orphanet:34145 Immunoglobulin A nephropathy oboInOwl:hasDbXref ICD10:N02 semapv:UnspecifiedMatching Orphanet:34145 Immunoglobulin A nephropathy oboInOwl:hasDbXref MedDRA:10021263 semapv:UnspecifiedMatching +Orphanet:34145 Immunoglobulin A nephropathy oboInOwl:hasDbXref icd11:MF8Y semapv:UnspecifiedMatching Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:34149 Autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:137920 semapv:UnspecifiedMatching @@ -30704,14 +30494,9 @@ Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:193500 semapv:Unspeci Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:193510 semapv:UnspecifiedMatching Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:600193 semapv:UnspecifiedMatching Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:606662 semapv:UnspecifiedMatching -Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:608890 semapv:UnspecifiedMatching Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref OMIM:611584 semapv:UnspecifiedMatching Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref UMLS:C3266898 semapv:UnspecifiedMatching Orphanet:3440 Waardenburg syndrome oboInOwl:hasDbXref icd11:EC23.2Y semapv:UnspecifiedMatching -Orphanet:34412 NON RARE IN EUROPE: HAIR-AN syndrome oboInOwl:hasDbXref ICD10:E28.2 semapv:UnspecifiedMatching -Orphanet:34412 NON RARE IN EUROPE: HAIR-AN syndrome oboInOwl:hasDbXref ICD10:E28.2 semapv:UnspecifiedMatching -Orphanet:3444 Watson syndrome oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching -Orphanet:3444 Watson syndrome oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching Orphanet:3444 Watson syndrome oboInOwl:hasDbXref OMIM:193520 semapv:UnspecifiedMatching Orphanet:3444 Watson syndrome oboInOwl:hasDbXref UMLS:C0553586 semapv:UnspecifiedMatching Orphanet:3446 Weaver-like syndrome oboInOwl:hasDbXref UMLS:C0220765 semapv:UnspecifiedMatching @@ -30720,8 +30505,6 @@ Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedM Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref MESH:C536687 semapv:UnspecifiedMatching Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref MedDRA:10083271 semapv:UnspecifiedMatching Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref OMIM:277590 semapv:UnspecifiedMatching -Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref OMIM:617561 semapv:UnspecifiedMatching -Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref OMIM:618786 semapv:UnspecifiedMatching Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref UMLS:C0265210 semapv:UnspecifiedMatching Orphanet:3447 Weaver syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching Orphanet:3448 Weaver-Williams syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -30733,16 +30516,17 @@ Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref MESH:D056846 semapv:U Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref MedDRA:10064963 semapv:UnspecifiedMatching Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIM:277600 semapv:UnspecifiedMatching Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIM:608328 semapv:UnspecifiedMatching +Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIM:613195 semapv:UnspecifiedMatching Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref OMIM:614819 semapv:UnspecifiedMatching Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref UMLS:C0265313 semapv:UnspecifiedMatching Orphanet:3449 Weill-Marchesani syndrome oboInOwl:hasDbXref icd11:9C61.42 semapv:UnspecifiedMatching Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref ICD10:L66.3 semapv:UnspecifiedMatching Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref ICD10:L66.3 semapv:UnspecifiedMatching +Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref MESH:C562486 semapv:UnspecifiedMatching Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref MedDRA:10056961 semapv:UnspecifiedMatching Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref OMIM:260910 semapv:UnspecifiedMatching Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref UMLS:C0263506 semapv:UnspecifiedMatching Orphanet:345 Dissecting cellulitis of the scalp oboInOwl:hasDbXref icd11:ED70.51 semapv:UnspecifiedMatching -Orphanet:3450 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref OMIM:184840 semapv:UnspecifiedMatching Orphanet:3450 Weissenbacher-Zweymuller syndrome oboInOwl:hasDbXref UMLS:C1848488 semapv:UnspecifiedMatching Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:3451 Infantile spasms syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching @@ -30777,8 +30561,6 @@ Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 oboInOwl:hasDbXr Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 oboInOwl:hasDbXref MESH:C566370 semapv:UnspecifiedMatching Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 oboInOwl:hasDbXref OMIM:603511 semapv:UnspecifiedMatching Orphanet:34516 DNAJB6-related limb-girdle muscular dystrophy D1 oboInOwl:hasDbXref UMLS:C3501858 semapv:UnspecifiedMatching -Orphanet:34517 Autosomal dominant limb-girdle muscular dystrophy type 1E oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching -Orphanet:34517 Autosomal dominant limb-girdle muscular dystrophy type 1E oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching Orphanet:34517 Autosomal dominant limb-girdle muscular dystrophy type 1E oboInOwl:hasDbXref UMLS:C3148763 semapv:UnspecifiedMatching Orphanet:3452 Whipple disease oboInOwl:hasDbXref ICD10:K90.8+ semapv:UnspecifiedMatching Orphanet:3452 Whipple disease oboInOwl:hasDbXref ICD10:K90.8+ semapv:UnspecifiedMatching @@ -30794,9 +30576,6 @@ Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency ob Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency oboInOwl:hasDbXref OMIM:613204 semapv:UnspecifiedMatching Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency oboInOwl:hasDbXref UMLS:C2750786 semapv:UnspecifiedMatching Orphanet:34520 Congenital muscular dystrophy with integrin alpha-7 deficiency oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching -Orphanet:34521 Distal myopathy with early respiratory muscle involvement oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -Orphanet:34521 Distal myopathy with early respiratory muscle involvement oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -Orphanet:34521 Distal myopathy with early respiratory muscle involvement oboInOwl:hasDbXref OMIM:603689 semapv:UnspecifiedMatching Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching Orphanet:34528 Autosomal dominant primary hypomagnesemia with hypocalciuria oboInOwl:hasDbXref MESH:C537152 semapv:UnspecifiedMatching @@ -30831,11 +30610,11 @@ Orphanet:3456 Wildervanck syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:Unspeci Orphanet:3456 Wildervanck syndrome oboInOwl:hasDbXref MedDRA:10069402 semapv:UnspecifiedMatching Orphanet:3456 Wildervanck syndrome oboInOwl:hasDbXref OMIM:314600 semapv:UnspecifiedMatching Orphanet:3456 Wildervanck syndrome oboInOwl:hasDbXref UMLS:C0265239 semapv:UnspecifiedMatching -Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency oboInOwl:hasDbXref OMIM:300257 semapv:UnspecifiedMatching -Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency oboInOwl:hasDbXref UMLS:C0878677 semapv:UnspecifiedMatching -Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching +Orphanet:34587 Danon disease oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:34587 Danon disease oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:34587 Danon disease oboInOwl:hasDbXref OMIM:300257 semapv:UnspecifiedMatching +Orphanet:34587 Danon disease oboInOwl:hasDbXref UMLS:C0878677 semapv:UnspecifiedMatching +Orphanet:34587 Danon disease oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching Orphanet:3459 Wilson-Turner syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3459 Wilson-Turner syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:3459 Wilson-Turner syndrome oboInOwl:hasDbXref MESH:C536708 semapv:UnspecifiedMatching @@ -30950,8 +30729,6 @@ Orphanet:35 Propionic acidemia oboInOwl:hasDbXref MESH:D056693 semapv:Unspecifie Orphanet:35 Propionic acidemia oboInOwl:hasDbXref OMIM:606054 semapv:UnspecifiedMatching Orphanet:35 Propionic acidemia oboInOwl:hasDbXref UMLS:C0268579 semapv:UnspecifiedMatching Orphanet:35 Propionic acidemia oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching -Orphanet:35056 NON RARE IN EUROPE: Trimethylaminuria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -Orphanet:35056 NON RARE IN EUROPE: Trimethylaminuria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:35062 Severe disseminated cytomegalovirus infection in immunocompetent patients oboInOwl:hasDbXref ICD10:B25.8 semapv:UnspecifiedMatching Orphanet:35062 Severe disseminated cytomegalovirus infection in immunocompetent patients oboInOwl:hasDbXref ICD10:B25.8 semapv:UnspecifiedMatching Orphanet:35062 Severe disseminated cytomegalovirus infection in immunocompetent patients oboInOwl:hasDbXref UMLS:C5680152 semapv:UnspecifiedMatching @@ -31069,8 +30846,6 @@ Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 oboInOwl:hasDbXr Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 oboInOwl:hasDbXref OMIM:616052 semapv:UnspecifiedMatching Orphanet:352479 ISPD-related limb-girdle muscular dystrophy R20 oboInOwl:hasDbXref UMLS:C5190987 semapv:UnspecifiedMatching -Orphanet:352487 Digital anomalies-intellectual disability-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:352487 Digital anomalies-intellectual disability-short stature syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency oboInOwl:hasDbXref ICD10:F84.1 semapv:UnspecifiedMatching Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency oboInOwl:hasDbXref ICD10:F84.1 semapv:UnspecifiedMatching Orphanet:352490 Autism spectrum disorder due to AUTS2 deficiency oboInOwl:hasDbXref OMIM:615834 semapv:UnspecifiedMatching @@ -31083,6 +30858,7 @@ Orphanet:352540 Oncogenic osteomalacia oboInOwl:hasDbXref ICD10:M83.8 semapv:Uns Orphanet:352540 Oncogenic osteomalacia oboInOwl:hasDbXref ICD10:M83.8 semapv:UnspecifiedMatching Orphanet:352540 Oncogenic osteomalacia oboInOwl:hasDbXref MESH:C537751 semapv:UnspecifiedMatching Orphanet:352540 Oncogenic osteomalacia oboInOwl:hasDbXref UMLS:C1274103 semapv:UnspecifiedMatching +Orphanet:352540 Oncogenic osteomalacia oboInOwl:hasDbXref icd11:FB80.Y semapv:UnspecifiedMatching Orphanet:352561 O-6-methylguanine-DNA methyltransferase oboInOwl:hasDbXref ENSEMBL:ENSG00000170430 semapv:UnspecifiedMatching Orphanet:352561 O-6-methylguanine-DNA methyltransferase oboInOwl:hasDbXref OMIM:156569 semapv:UnspecifiedMatching Orphanet:352561 O-6-methylguanine-DNA methyltransferase oboInOwl:hasDbXref uniprot:P16455 semapv:UnspecifiedMatching @@ -31092,6 +30868,7 @@ Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency o Orphanet:352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency oboInOwl:hasDbXref UMLS:C4749946 semapv:UnspecifiedMatching Orphanet:352577 Bainbridge-Ropers syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:352577 Bainbridge-Ropers syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:352577 Bainbridge-Ropers syndrome oboInOwl:hasDbXref MESH:C000726367 semapv:UnspecifiedMatching Orphanet:352577 Bainbridge-Ropers syndrome oboInOwl:hasDbXref OMIM:615485 semapv:UnspecifiedMatching Orphanet:352577 Bainbridge-Ropers syndrome oboInOwl:hasDbXref UMLS:C4750837 semapv:UnspecifiedMatching Orphanet:352582 Familial infantile myoclonic epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching @@ -31109,8 +30886,6 @@ Orphanet:352596 Progressive myoclonic epilepsy with dystonia oboInOwl:hasDbXref Orphanet:352609 phosphorylase kinase catalytic subunit gamma 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000164776 semapv:UnspecifiedMatching Orphanet:352609 phosphorylase kinase catalytic subunit gamma 1 oboInOwl:hasDbXref OMIM:172470 semapv:UnspecifiedMatching Orphanet:352609 phosphorylase kinase catalytic subunit gamma 1 oboInOwl:hasDbXref uniprot:Q16816 semapv:UnspecifiedMatching -Orphanet:352613 Male infertility due to NANOS1 mutation oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching -Orphanet:352613 Male infertility due to NANOS1 mutation oboInOwl:hasDbXref ICD10:N46 semapv:UnspecifiedMatching Orphanet:352629 16q24.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:352629 16q24.1 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:352629 16q24.1 microdeletion syndrome oboInOwl:hasDbXref UMLS:C4749464 semapv:UnspecifiedMatching @@ -31188,8 +30963,6 @@ Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 oboInOwl:ha Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 oboInOwl:hasDbXref OMIM:606952 semapv:UnspecifiedMatching Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 oboInOwl:hasDbXref UMLS:C1847132 semapv:UnspecifiedMatching Orphanet:352737 Temperature-sensitive oculocutaneous albinism type 1 oboInOwl:hasDbXref icd11:EC23.20 semapv:UnspecifiedMatching -Orphanet:352740 Ocular albinism with congenital sensorineural deafness oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching -Orphanet:352740 Ocular albinism with congenital sensorineural deafness oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:352745 Oculocutaneous albinism type 7 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:352745 Oculocutaneous albinism type 7 oboInOwl:hasDbXref ICD10:E70.3 semapv:UnspecifiedMatching Orphanet:352745 Oculocutaneous albinism type 7 oboInOwl:hasDbXref OMIM:615179 semapv:UnspecifiedMatching @@ -31247,10 +31020,12 @@ Orphanet:353277 Rubinstein-Taybi syndrome due to CREBBP mutations oboInOwl:hasDb Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion oboInOwl:hasDbXref OMIM:610543 semapv:UnspecifiedMatching +Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion oboInOwl:hasDbXref UMLS:C1864648 semapv:UnspecifiedMatching Orphanet:353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion oboInOwl:hasDbXref icd11:LD44.G1 semapv:UnspecifiedMatching Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency oboInOwl:hasDbXref OMIM:613684 semapv:UnspecifiedMatching +Orphanet:353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency oboInOwl:hasDbXref UMLS:C3150941 semapv:UnspecifiedMatching Orphanet:353298 Roifman syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:353298 Roifman syndrome oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:353298 Roifman syndrome oboInOwl:hasDbXref MESH:C535866 semapv:UnspecifiedMatching @@ -31309,9 +31084,6 @@ Orphanet:353460 tetratricopeptide repeat domain 7A oboInOwl:hasDbXref uniprot:Q9 Orphanet:353497 G protein subunit alpha q oboInOwl:hasDbXref ENSEMBL:ENSG00000156052 semapv:UnspecifiedMatching Orphanet:353497 G protein subunit alpha q oboInOwl:hasDbXref OMIM:600998 semapv:UnspecifiedMatching Orphanet:353497 G protein subunit alpha q oboInOwl:hasDbXref uniprot:P50148 semapv:UnspecifiedMatching -Orphanet:353516 DNA topoisomerase II alpha oboInOwl:hasDbXref ENSEMBL:ENSG00000131747 semapv:UnspecifiedMatching -Orphanet:353516 DNA topoisomerase II alpha oboInOwl:hasDbXref OMIM:126430 semapv:UnspecifiedMatching -Orphanet:353516 DNA topoisomerase II alpha oboInOwl:hasDbXref uniprot:P11388 semapv:UnspecifiedMatching Orphanet:353524 KIAA1549 oboInOwl:hasDbXref ENSEMBL:ENSG00000122778 semapv:UnspecifiedMatching Orphanet:353524 KIAA1549 oboInOwl:hasDbXref OMIM:613344 semapv:UnspecifiedMatching Orphanet:353524 KIAA1549 oboInOwl:hasDbXref uniprot:Q9HCM3 semapv:UnspecifiedMatching @@ -31455,6 +31227,7 @@ Orphanet:356638 immunoglobulin heavy variable 4-34 oboInOwl:hasDbXref uniprot:P0 Orphanet:35664 ALDH18A1-related De Barsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:35664 ALDH18A1-related De Barsy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:35664 ALDH18A1-related De Barsy syndrome oboInOwl:hasDbXref OMIM:219150 semapv:UnspecifiedMatching +Orphanet:35664 ALDH18A1-related De Barsy syndrome oboInOwl:hasDbXref UMLS:C5234852 semapv:UnspecifiedMatching Orphanet:35664 ALDH18A1-related De Barsy syndrome oboInOwl:hasDbXref icd11:5C50.8 semapv:UnspecifiedMatching Orphanet:356847 CD27 molecule oboInOwl:hasDbXref ENSEMBL:ENSG00000139193 semapv:UnspecifiedMatching Orphanet:356847 CD27 molecule oboInOwl:hasDbXref OMIM:186711 semapv:UnspecifiedMatching @@ -31671,6 +31444,7 @@ Orphanet:35807 Malignant germ cell tumor of ovary oboInOwl:hasDbXref MedDRA:1006 Orphanet:35807 Malignant germ cell tumor of ovary oboInOwl:hasDbXref OMIM:603737 semapv:UnspecifiedMatching Orphanet:35807 Malignant germ cell tumor of ovary oboInOwl:hasDbXref UMLS:C0346180 semapv:UnspecifiedMatching Orphanet:35807 Malignant germ cell tumor of ovary oboInOwl:hasDbXref icd11:2C73.Y semapv:UnspecifiedMatching +Orphanet:35808 Malignant sex cord stromal tumor of ovary oboInOwl:hasDbXref UMLS:C1334609 semapv:UnspecifiedMatching Orphanet:358321 STEAP3 metalloreductase oboInOwl:hasDbXref ENSEMBL:ENSG00000115107 semapv:UnspecifiedMatching Orphanet:358321 STEAP3 metalloreductase oboInOwl:hasDbXref OMIM:609671 semapv:UnspecifiedMatching Orphanet:358321 STEAP3 metalloreductase oboInOwl:hasDbXref uniprot:Q658P3 semapv:UnspecifiedMatching @@ -31850,6 +31624,7 @@ Orphanet:36236 Staphylococcal scalded skin syndrome oboInOwl:hasDbXref ICD10:L00 Orphanet:36236 Staphylococcal scalded skin syndrome oboInOwl:hasDbXref MESH:D013206 semapv:UnspecifiedMatching Orphanet:36236 Staphylococcal scalded skin syndrome oboInOwl:hasDbXref MedDRA:10041929 semapv:UnspecifiedMatching Orphanet:36236 Staphylococcal scalded skin syndrome oboInOwl:hasDbXref UMLS:C0038165 semapv:UnspecifiedMatching +Orphanet:36236 Staphylococcal scalded skin syndrome oboInOwl:hasDbXref icd11:EA50.2 semapv:UnspecifiedMatching Orphanet:36237 Bullous impetigo oboInOwl:hasDbXref ICD10:L01.0 semapv:UnspecifiedMatching Orphanet:36237 Bullous impetigo oboInOwl:hasDbXref ICD10:L01.0 semapv:UnspecifiedMatching Orphanet:36237 Bullous impetigo oboInOwl:hasDbXref MedDRA:10006563 semapv:UnspecifiedMatching @@ -31889,8 +31664,10 @@ Orphanet:363162 ADP ribosylation factor like GTPase 2 binding protein oboInOwl:h Orphanet:363189 Congenital anomaly of the great veins oboInOwl:hasDbXref UMLS:C0158632 semapv:UnspecifiedMatching Orphanet:363203 Ring chromosome oboInOwl:hasDbXref MESH:D012303 semapv:UnspecifiedMatching Orphanet:363203 Ring chromosome oboInOwl:hasDbXref MedDRA:10081894 semapv:UnspecifiedMatching +Orphanet:363203 Ring chromosome oboInOwl:hasDbXref UMLS:C0035639 semapv:UnspecifiedMatching Orphanet:363245 Genetic progeroid syndrome oboInOwl:hasDbXref UMLS:C5680983 semapv:UnspecifiedMatching Orphanet:363250 Ciliopathy oboInOwl:hasDbXref MESH:D000072661 semapv:UnspecifiedMatching +Orphanet:363250 Ciliopathy oboInOwl:hasDbXref UMLS:C4277690 semapv:UnspecifiedMatching Orphanet:363255 SLIT-ROBO Rho GTPase activating protein 3 oboInOwl:hasDbXref ENSEMBL:ENSG00000196220 semapv:UnspecifiedMatching Orphanet:363255 SLIT-ROBO Rho GTPase activating protein 3 oboInOwl:hasDbXref OMIM:606525 semapv:UnspecifiedMatching Orphanet:363255 SLIT-ROBO Rho GTPase activating protein 3 oboInOwl:hasDbXref uniprot:O43295 semapv:UnspecifiedMatching @@ -31959,6 +31736,7 @@ Orphanet:363447 Autosomal dominant childhood-onset proximal spinal muscular atro Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref OMIM:615290 semapv:UnspecifiedMatching +Orphanet:363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy oboInOwl:hasDbXref UMLS:C4747715 semapv:UnspecifiedMatching Orphanet:363472 Tumor of testis and paratestis oboInOwl:hasDbXref UMLS:C5679920 semapv:UnspecifiedMatching Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.0 semapv:UnspecifiedMatching Orphanet:363478 Paratesticular adenocarcinoma oboInOwl:hasDbXref ICD10:C63.0 semapv:UnspecifiedMatching @@ -32007,9 +31785,6 @@ Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema oboInOwl:hasDbXref OMIM:615651 semapv:UnspecifiedMatching Orphanet:363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema oboInOwl:hasDbXref UMLS:C4554120 semapv:UnspecifiedMatching -Orphanet:363543 Autosomal recessive limb-girdle muscular dystrophy type 2R oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -Orphanet:363543 Autosomal recessive limb-girdle muscular dystrophy type 2R oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -Orphanet:363543 Autosomal recessive limb-girdle muscular dystrophy type 2R oboInOwl:hasDbXref OMIM:601419 semapv:UnspecifiedMatching Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:363549 Acute encephalopathy with biphasic seizures and late reduced diffusion oboInOwl:hasDbXref UMLS:C4707658 semapv:UnspecifiedMatching @@ -32022,6 +31797,7 @@ Orphanet:363558 New-onset refractory status epilepticus oboInOwl:hasDbXref ICD10 Orphanet:363558 New-onset refractory status epilepticus oboInOwl:hasDbXref UMLS:C4749462 semapv:UnspecifiedMatching Orphanet:363567 Acute encephalopathy with inflammation-mediated status epilepticus oboInOwl:hasDbXref UMLS:C5680984 semapv:UnspecifiedMatching Orphanet:363579 Extragonadal germ cell tumor oboInOwl:hasDbXref UMLS:C0262963 semapv:UnspecifiedMatching +Orphanet:363582 Gonadal germ cell tumor oboInOwl:hasDbXref UMLS:C3899657 semapv:UnspecifiedMatching Orphanet:363611 CTCF-related neurodevelopmental disorder oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:363611 CTCF-related neurodevelopmental disorder oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:363611 CTCF-related neurodevelopmental disorder oboInOwl:hasDbXref OMIM:615502 semapv:UnspecifiedMatching @@ -32084,13 +31860,13 @@ Orphanet:363710 Spinocerebellar ataxia type 37 oboInOwl:hasDbXref ICD10:G11.8 se Orphanet:363710 Spinocerebellar ataxia type 37 oboInOwl:hasDbXref OMIM:615945 semapv:UnspecifiedMatching Orphanet:363710 Spinocerebellar ataxia type 37 oboInOwl:hasDbXref UMLS:C3889636 semapv:UnspecifiedMatching Orphanet:363710 Spinocerebellar ataxia type 37 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching -Orphanet:363717 Alexander disease type I oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -Orphanet:363717 Alexander disease type I oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:363717 Alexander disease type I oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:363717 Alexander disease type I oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching Orphanet:363717 Alexander disease type I oboInOwl:hasDbXref OMIM:203450 semapv:UnspecifiedMatching Orphanet:363717 Alexander disease type I oboInOwl:hasDbXref UMLS:C5679915 semapv:UnspecifiedMatching Orphanet:363717 Alexander disease type I oboInOwl:hasDbXref icd11:8A44.2 semapv:UnspecifiedMatching -Orphanet:363722 Alexander disease type II oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -Orphanet:363722 Alexander disease type II oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:363722 Alexander disease type II oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:363722 Alexander disease type II oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching Orphanet:363722 Alexander disease type II oboInOwl:hasDbXref OMIM:203450 semapv:UnspecifiedMatching Orphanet:363722 Alexander disease type II oboInOwl:hasDbXref UMLS:C5679914 semapv:UnspecifiedMatching Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia oboInOwl:hasDbXref ICD10:D64.4 semapv:UnspecifiedMatching @@ -32111,10 +31887,10 @@ Orphanet:36382 Familial cervical artery dissection oboInOwl:hasDbXref ICD10:I72. Orphanet:36382 Familial cervical artery dissection oboInOwl:hasDbXref ICD10:I72.5 semapv:UnspecifiedMatching Orphanet:36382 Familial cervical artery dissection oboInOwl:hasDbXref ICD10:I72.5 semapv:UnspecifiedMatching Orphanet:36382 Familial cervical artery dissection oboInOwl:hasDbXref UMLS:C4755308 semapv:UnspecifiedMatching -Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching -Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching -Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy oboInOwl:hasDbXref OMIM:175780 semapv:UnspecifiedMatching -Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy oboInOwl:hasDbXref UMLS:C4755307 semapv:UnspecifiedMatching +Orphanet:36383 COL4A1/2-related familial vascular leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching +Orphanet:36383 COL4A1/2-related familial vascular leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching +Orphanet:36383 COL4A1/2-related familial vascular leukoencephalopathy oboInOwl:hasDbXref OMIM:175780 semapv:UnspecifiedMatching +Orphanet:36383 COL4A1/2-related familial vascular leukoencephalopathy oboInOwl:hasDbXref UMLS:C4755307 semapv:UnspecifiedMatching Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 oboInOwl:hasDbXref OMIM:162400 semapv:UnspecifiedMatching @@ -32189,6 +31965,7 @@ Orphanet:363989 Familial benign flecked retina oboInOwl:hasDbXref UMLS:C1856718 Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome oboInOwl:hasDbXref OMIM:613195 semapv:UnspecifiedMatching +Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome oboInOwl:hasDbXref OMIM:615023 semapv:UnspecifiedMatching Orphanet:363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome oboInOwl:hasDbXref UMLS:C5190986 semapv:UnspecifiedMatching Orphanet:363999 Non-immune hydrops fetalis oboInOwl:hasDbXref ICD10:P83.2 semapv:UnspecifiedMatching Orphanet:363999 Non-immune hydrops fetalis oboInOwl:hasDbXref ICD10:P83.2 semapv:UnspecifiedMatching @@ -32219,6 +31996,7 @@ Orphanet:364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative Orphanet:364039 Hydroa vacciniforme-like lymphoma oboInOwl:hasDbXref ICD10:C84.5 semapv:UnspecifiedMatching Orphanet:364039 Hydroa vacciniforme-like lymphoma oboInOwl:hasDbXref ICD10:C84.5 semapv:UnspecifiedMatching Orphanet:364039 Hydroa vacciniforme-like lymphoma oboInOwl:hasDbXref UMLS:C1708397 semapv:UnspecifiedMatching +Orphanet:364039 Hydroa vacciniforme-like lymphoma oboInOwl:hasDbXref icd11:2B0Y semapv:UnspecifiedMatching Orphanet:364043 ALK-positive large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching Orphanet:364043 ALK-positive large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching Orphanet:364043 ALK-positive large B-cell lymphoma oboInOwl:hasDbXref UMLS:C1333294 semapv:UnspecifiedMatching @@ -32290,7 +32068,6 @@ Orphanet:364799 fibroblast growth factor 16 oboInOwl:hasDbXref ENSEMBL:ENSG00000 Orphanet:364799 fibroblast growth factor 16 oboInOwl:hasDbXref OMIM:300827 semapv:UnspecifiedMatching Orphanet:364799 fibroblast growth factor 16 oboInOwl:hasDbXref uniprot:O43320 semapv:UnspecifiedMatching Orphanet:364803 Rare bone disease related to a common gene or pathway defect oboInOwl:hasDbXref UMLS:C5680975 semapv:UnspecifiedMatching -Orphanet:364817 Aggrecan-related bone disorder oboInOwl:hasDbXref UMLS:C5680976 semapv:UnspecifiedMatching Orphanet:364820 TRPV4-related bone disorder oboInOwl:hasDbXref UMLS:C5680977 semapv:UnspecifiedMatching Orphanet:364825 KIAA0319 like oboInOwl:hasDbXref ENSEMBL:ENSG00000142687 semapv:UnspecifiedMatching Orphanet:364825 KIAA0319 like oboInOwl:hasDbXref OMIM:613535 semapv:UnspecifiedMatching @@ -32459,7 +32236,6 @@ Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 oboInOwl:has Orphanet:369840 TRAPPC11-related limb-girdle muscular dystrophy R18 oboInOwl:hasDbXref UMLS:C4517996 semapv:UnspecifiedMatching Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome oboInOwl:hasDbXref ICD10:G25.5 semapv:UnspecifiedMatching Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome oboInOwl:hasDbXref ICD10:G25.5 semapv:UnspecifiedMatching -Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome oboInOwl:hasDbXref OMIM:615356 semapv:UnspecifiedMatching Orphanet:369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome oboInOwl:hasDbXref UMLS:C5192595 semapv:UnspecifiedMatching Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching Orphanet:369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching @@ -32516,10 +32292,12 @@ Orphanet:369950 Intellectual disability-seizures-macrocephaly-obesity syndrome o Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ oboInOwl:hasDbXref OMIM:614857 semapv:UnspecifiedMatching +Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ oboInOwl:hasDbXref UMLS:C3553915 semapv:UnspecifiedMatching Orphanet:369955 Methylmalonic acidemia with homocystinuria, type cblJ oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX oboInOwl:hasDbXref OMIM:309541 semapv:UnspecifiedMatching +Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX oboInOwl:hasDbXref UMLS:C0796208 semapv:UnspecifiedMatching Orphanet:369962 Methylmalonic acidemia with homocystinuria, type cblX oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching Orphanet:369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome oboInOwl:hasDbXref ICD10:Q15.8 semapv:UnspecifiedMatching @@ -32551,8 +32329,6 @@ Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses oboInOwl:has Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses oboInOwl:hasDbXref OMIM:148700 semapv:UnspecifiedMatching Orphanet:370002 Focal palmoplantar keratoderma with joint keratoses oboInOwl:hasDbXref UMLS:C4755302 semapv:UnspecifiedMatching -Orphanet:370006 Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:370006 Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:370006 Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome oboInOwl:hasDbXref OMIM:615926 semapv:UnspecifiedMatching Orphanet:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching @@ -32560,8 +32336,6 @@ Orphanet:370010 Intellectual disability-facial dysmorphism-hand anomalies syndro Orphanet:370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type oboInOwl:hasDbXref OMIM:618728 semapv:UnspecifiedMatching -Orphanet:370019 Spondylometaphyseal dysplasia, Czarny-Ratajczak type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -Orphanet:370019 Spondylometaphyseal dysplasia, Czarny-Ratajczak type oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome oboInOwl:hasDbXref OMIM:615960 semapv:UnspecifiedMatching @@ -32621,8 +32395,6 @@ Orphanet:370109 Ataxia-telangiectasia variant oboInOwl:hasDbXref ICD10:G11.3 sem Orphanet:370109 Ataxia-telangiectasia variant oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching Orphanet:370109 Ataxia-telangiectasia variant oboInOwl:hasDbXref MESH:C566865 semapv:UnspecifiedMatching Orphanet:370109 Ataxia-telangiectasia variant oboInOwl:hasDbXref UMLS:C1876175 semapv:UnspecifiedMatching -Orphanet:370114 Combined cervical dystonia oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching -Orphanet:370114 Combined cervical dystonia oboInOwl:hasDbXref ICD10:G11.3 semapv:UnspecifiedMatching Orphanet:370127 Medich giant platelet syndrome oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching Orphanet:370127 Medich giant platelet syndrome oboInOwl:hasDbXref ICD10:D69.1 semapv:UnspecifiedMatching Orphanet:370127 Medich giant platelet syndrome oboInOwl:hasDbXref UMLS:C4305375 semapv:UnspecifiedMatching @@ -32660,6 +32432,7 @@ Orphanet:370418 zinc finger and BTB domain containing 18 oboInOwl:hasDbXref unip Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref ICD10:E31.0 semapv:UnspecifiedMatching Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref MESH:C580192 semapv:UnspecifiedMatching +Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref MedDRA:10080631 semapv:UnspecifiedMatching Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref OMIM:304790 semapv:UnspecifiedMatching Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref UMLS:C0342288 semapv:UnspecifiedMatching Orphanet:37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome oboInOwl:hasDbXref icd11:4A01.21 semapv:UnspecifiedMatching @@ -32687,8 +32460,6 @@ Orphanet:370933 GM3 synthase deficiency oboInOwl:hasDbXref ICD10:E77.8 semapv:Un Orphanet:370933 GM3 synthase deficiency oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:370933 GM3 synthase deficiency oboInOwl:hasDbXref OMIM:609056 semapv:UnspecifiedMatching Orphanet:370933 GM3 synthase deficiency oboInOwl:hasDbXref icd11:5C54.Y semapv:UnspecifiedMatching -Orphanet:370938 Salt-and-pepper syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -Orphanet:370938 Salt-and-pepper syndrome oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome oboInOwl:hasDbXref OMIM:615553 semapv:UnspecifiedMatching @@ -32819,11 +32590,8 @@ Orphanet:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref MedDRA:10085695 s Orphanet:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref OMIM:312870 semapv:UnspecifiedMatching Orphanet:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref UMLS:C4317043 semapv:UnspecifiedMatching Orphanet:373 Simpson-Golabi-Behmel syndrome oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching -Orphanet:374 Goldenhar syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -Orphanet:374 Goldenhar syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:374 Goldenhar syndrome oboInOwl:hasDbXref MESH:D006053 semapv:UnspecifiedMatching Orphanet:374 Goldenhar syndrome oboInOwl:hasDbXref OMIM:164210 semapv:UnspecifiedMatching -Orphanet:374 Goldenhar syndrome oboInOwl:hasDbXref UMLS:C0265240 semapv:UnspecifiedMatching Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref ICD10:M31.0+ semapv:UnspecifiedMatching Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref ICD10:M31.0+ semapv:UnspecifiedMatching Orphanet:375 Anti-glomerular basement membrane disease oboInOwl:hasDbXref ICD10:N08.5* semapv:UnspecifiedMatching @@ -32858,8 +32626,6 @@ Orphanet:37612 Episodic ataxia type 1 oboInOwl:hasDbXref MESH:C563278 semapv:Uns Orphanet:37612 Episodic ataxia type 1 oboInOwl:hasDbXref OMIM:160120 semapv:UnspecifiedMatching Orphanet:37612 Episodic ataxia type 1 oboInOwl:hasDbXref UMLS:C1719788 semapv:UnspecifiedMatching Orphanet:37612 Episodic ataxia type 1 oboInOwl:hasDbXref icd11:8A03.14 semapv:UnspecifiedMatching -Orphanet:37629 Neonatal neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -Orphanet:37629 Neonatal neutropenia oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching Orphanet:37629 Neonatal neutropenia oboInOwl:hasDbXref MedDRA:10029358 semapv:UnspecifiedMatching Orphanet:37629 Neonatal neutropenia oboInOwl:hasDbXref UMLS:C0543693 semapv:UnspecifiedMatching Orphanet:376401 trafficking protein particle complex subunit 11 oboInOwl:hasDbXref ENSEMBL:ENSG00000168538 semapv:UnspecifiedMatching @@ -32981,9 +32747,6 @@ Orphanet:377682 GDP-mannose pyrophosphorylase A oboInOwl:hasDbXref uniprot:Q96IJ Orphanet:377743 NADH:ubiquinone oxidoreductase subunit A13 oboInOwl:hasDbXref ENSEMBL:ENSG00000186010 semapv:UnspecifiedMatching Orphanet:377743 NADH:ubiquinone oxidoreductase subunit A13 oboInOwl:hasDbXref OMIM:609435 semapv:UnspecifiedMatching Orphanet:377743 NADH:ubiquinone oxidoreductase subunit A13 oboInOwl:hasDbXref uniprot:Q9P0J0 semapv:UnspecifiedMatching -Orphanet:377752 ATP synthase mitochondrial F1 complex assembly factor 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000123472 semapv:UnspecifiedMatching -Orphanet:377752 ATP synthase mitochondrial F1 complex assembly factor 1 oboInOwl:hasDbXref OMIM:608917 semapv:UnspecifiedMatching -Orphanet:377752 ATP synthase mitochondrial F1 complex assembly factor 1 oboInOwl:hasDbXref uniprot:Q5TC12 semapv:UnspecifiedMatching Orphanet:378 NON RARE IN EUROPE: Sjögren syndrome oboInOwl:hasDbXref ICD10:M35.0 semapv:UnspecifiedMatching Orphanet:378 NON RARE IN EUROPE: Sjögren syndrome oboInOwl:hasDbXref ICD10:M35.0 semapv:UnspecifiedMatching Orphanet:379 Chronic granulomatous disease oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching @@ -33023,8 +32786,6 @@ Orphanet:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref ME Orphanet:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref OMIM:612736 semapv:UnspecifiedMatching Orphanet:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref UMLS:C0574080 semapv:UnspecifiedMatching Orphanet:382 Guanidinoacetate methyltransferase deficiency oboInOwl:hasDbXref icd11:5C53.4 semapv:UnspecifiedMatching -Orphanet:383 X-linked mixed deafness with perilymphatic gusher oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching -Orphanet:383 X-linked mixed deafness with perilymphatic gusher oboInOwl:hasDbXref ICD10:H90.3 semapv:UnspecifiedMatching Orphanet:383 X-linked mixed deafness with perilymphatic gusher oboInOwl:hasDbXref OMIM:304400 semapv:UnspecifiedMatching Orphanet:383 X-linked mixed deafness with perilymphatic gusher oboInOwl:hasDbXref UMLS:C1844678 semapv:UnspecifiedMatching Orphanet:384 Huriez syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching @@ -33211,10 +32972,12 @@ Orphanet:391384 Familial episodic pain syndrome oboInOwl:hasDbXref icd11:MG31.Y Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement oboInOwl:hasDbXref ICD10:M79.6 semapv:UnspecifiedMatching Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement oboInOwl:hasDbXref ICD10:M79.6 semapv:UnspecifiedMatching Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement oboInOwl:hasDbXref OMIM:615040 semapv:UnspecifiedMatching +Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement oboInOwl:hasDbXref UMLS:C3808667 semapv:UnspecifiedMatching Orphanet:391389 Familial episodic pain syndrome with predominantly upper body involvement oboInOwl:hasDbXref icd11:MG31.Y semapv:UnspecifiedMatching Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement oboInOwl:hasDbXref ICD10:M79.6 semapv:UnspecifiedMatching Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement oboInOwl:hasDbXref ICD10:M79.6 semapv:UnspecifiedMatching Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement oboInOwl:hasDbXref OMIM:615552 semapv:UnspecifiedMatching +Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement oboInOwl:hasDbXref UMLS:C3809899 semapv:UnspecifiedMatching Orphanet:391392 Familial episodic pain syndrome with predominantly lower limb involvement oboInOwl:hasDbXref icd11:MG31.Y semapv:UnspecifiedMatching Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:391397 Hereditary sensory and autonomic neuropathy type 7 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching @@ -33253,10 +33016,10 @@ Orphanet:391474 Frontorhiny oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMat Orphanet:391474 Frontorhiny oboInOwl:hasDbXref ICD10:Q75.8 semapv:UnspecifiedMatching Orphanet:391474 Frontorhiny oboInOwl:hasDbXref OMIM:136760 semapv:UnspecifiedMatching Orphanet:391474 Frontorhiny oboInOwl:hasDbXref UMLS:C5574965 semapv:UnspecifiedMatching -Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome oboInOwl:hasDbXref ICD10:K63.9 semapv:UnspecifiedMatching -Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome oboInOwl:hasDbXref ICD10:K63.9 semapv:UnspecifiedMatching -Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome oboInOwl:hasDbXref OMIM:614162 semapv:UnspecifiedMatching -Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome oboInOwl:hasDbXref UMLS:C4302671 semapv:UnspecifiedMatching +Orphanet:391487 STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome oboInOwl:hasDbXref ICD10:K63.9 semapv:UnspecifiedMatching +Orphanet:391487 STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome oboInOwl:hasDbXref ICD10:K63.9 semapv:UnspecifiedMatching +Orphanet:391487 STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome oboInOwl:hasDbXref OMIM:614162 semapv:UnspecifiedMatching +Orphanet:391487 STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome oboInOwl:hasDbXref UMLS:C4302671 semapv:UnspecifiedMatching Orphanet:391490 Adult-onset myasthenia gravis oboInOwl:hasDbXref ICD10:G70.0 semapv:UnspecifiedMatching Orphanet:391490 Adult-onset myasthenia gravis oboInOwl:hasDbXref ICD10:G70.0 semapv:UnspecifiedMatching Orphanet:391490 Adult-onset myasthenia gravis oboInOwl:hasDbXref UMLS:C5680024 semapv:UnspecifiedMatching @@ -33283,10 +33046,12 @@ Orphanet:391641 Feingold syndrome type 1 oboInOwl:hasDbXref icd11:LD2F.1Y semapv Orphanet:391646 Feingold syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:391646 Feingold syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:391646 Feingold syndrome type 2 oboInOwl:hasDbXref OMIM:614326 semapv:UnspecifiedMatching +Orphanet:391646 Feingold syndrome type 2 oboInOwl:hasDbXref UMLS:C3280489 semapv:UnspecifiedMatching Orphanet:391646 Feingold syndrome type 2 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:391651 Glomus tumor oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:391651 Glomus tumor oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:391651 Glomus tumor oboInOwl:hasDbXref MESH:D005918 semapv:UnspecifiedMatching +Orphanet:391651 Glomus tumor oboInOwl:hasDbXref MedDRA:10018381 semapv:UnspecifiedMatching Orphanet:391651 Glomus tumor oboInOwl:hasDbXref UMLS:C0017653 semapv:UnspecifiedMatching Orphanet:391651 Glomus tumor oboInOwl:hasDbXref icd11:2E81.0Z semapv:UnspecifiedMatching Orphanet:391655 Off-periods in Parkinson disease not responding to oral treatment oboInOwl:hasDbXref ICD10:G20 semapv:UnspecifiedMatching @@ -33301,6 +33066,7 @@ Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref OMIM Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref OMIM:602247 semapv:UnspecifiedMatching Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref OMIM:603813 semapv:UnspecifiedMatching Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref UMLS:C0342881 semapv:UnspecifiedMatching +Orphanet:391665 Homozygous familial hypercholesterolemia oboInOwl:hasDbXref icd11:5C80.00 semapv:UnspecifiedMatching Orphanet:391673 Necrotizing enterocolitis oboInOwl:hasDbXref ICD10:P77 semapv:UnspecifiedMatching Orphanet:391673 Necrotizing enterocolitis oboInOwl:hasDbXref ICD10:P77 semapv:UnspecifiedMatching Orphanet:391673 Necrotizing enterocolitis oboInOwl:hasDbXref MESH:D020345 semapv:UnspecifiedMatching @@ -33630,6 +33396,7 @@ Orphanet:398063 Refractory celiac disease oboInOwl:hasDbXref ICD10:K90.0 semapv: Orphanet:398063 Refractory celiac disease oboInOwl:hasDbXref UMLS:C4749333 semapv:UnspecifiedMatching Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome oboInOwl:hasDbXref MESH:C000726748 semapv:UnspecifiedMatching Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome oboInOwl:hasDbXref OMIM:615547 semapv:UnspecifiedMatching Orphanet:398069 MAGEL2-related Prader-Willi-like syndrome oboInOwl:hasDbXref UMLS:C5575066 semapv:UnspecifiedMatching Orphanet:398073 Prader-Willi-like syndrome oboInOwl:hasDbXref UMLS:C3809877 semapv:UnspecifiedMatching @@ -33692,6 +33459,7 @@ Orphanet:398173 Focal facial dermal dysplasia type II oboInOwl:hasDbXref icd11:L Orphanet:398189 Focal facial dermal dysplasia type IV oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:398189 Focal facial dermal dysplasia type IV oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:398189 Focal facial dermal dysplasia type IV oboInOwl:hasDbXref OMIM:614974 semapv:UnspecifiedMatching +Orphanet:398189 Focal facial dermal dysplasia type IV oboInOwl:hasDbXref UMLS:C3554246 semapv:UnspecifiedMatching Orphanet:398189 Focal facial dermal dysplasia type IV oboInOwl:hasDbXref icd11:LD27.0Y semapv:UnspecifiedMatching Orphanet:398201 5'-nucleotidase, cytosolic II oboInOwl:hasDbXref ENSEMBL:ENSG00000076685 semapv:UnspecifiedMatching Orphanet:398201 5'-nucleotidase, cytosolic II oboInOwl:hasDbXref OMIM:600417 semapv:UnspecifiedMatching @@ -33751,6 +33519,7 @@ Orphanet:399158 Osteonecrosis oboInOwl:hasDbXref MESH:D010020 semapv:Unspecified Orphanet:399158 Osteonecrosis oboInOwl:hasDbXref MedDRA:10031264 semapv:UnspecifiedMatching Orphanet:399158 Osteonecrosis oboInOwl:hasDbXref UMLS:C0029445 semapv:UnspecifiedMatching Orphanet:399158 Osteonecrosis oboInOwl:hasDbXref icd11:FB81 semapv:UnspecifiedMatching +Orphanet:399164 Avascular necrosis oboInOwl:hasDbXref UMLS:C0027543 semapv:UnspecifiedMatching Orphanet:399164 Avascular necrosis oboInOwl:hasDbXref icd11:FB81 semapv:UnspecifiedMatching Orphanet:399169 Secondary avascular necrosis oboInOwl:hasDbXref UMLS:C5680036 semapv:UnspecifiedMatching Orphanet:399175 Traumatic avascular necrosis oboInOwl:hasDbXref ICD10:M87.2 semapv:UnspecifiedMatching @@ -33772,10 +33541,12 @@ Orphanet:399307 Idiopathic avascular necrosis oboInOwl:hasDbXref ICD10:M87.0 sem Orphanet:399307 Idiopathic avascular necrosis oboInOwl:hasDbXref ICD10:M87.0 semapv:UnspecifiedMatching Orphanet:399307 Idiopathic avascular necrosis oboInOwl:hasDbXref icd11:FB82.1 semapv:UnspecifiedMatching Orphanet:399319 Osteochondrosis oboInOwl:hasDbXref MESH:D055034 semapv:UnspecifiedMatching +Orphanet:399319 Osteochondrosis oboInOwl:hasDbXref MedDRA:10031233 semapv:UnspecifiedMatching Orphanet:399319 Osteochondrosis oboInOwl:hasDbXref UMLS:C0029429 semapv:UnspecifiedMatching Orphanet:399319 Osteochondrosis oboInOwl:hasDbXref icd11:FB82.1 semapv:UnspecifiedMatching Orphanet:399329 Epiphysiolysis of the hip oboInOwl:hasDbXref ICD10:M93.9 semapv:UnspecifiedMatching Orphanet:399329 Epiphysiolysis of the hip oboInOwl:hasDbXref ICD10:M93.9 semapv:UnspecifiedMatching +Orphanet:399329 Epiphysiolysis of the hip oboInOwl:hasDbXref MESH:D060048 semapv:UnspecifiedMatching Orphanet:399329 Epiphysiolysis of the hip oboInOwl:hasDbXref UMLS:C0158441 semapv:UnspecifiedMatching Orphanet:399329 Epiphysiolysis of the hip oboInOwl:hasDbXref icd11:FB82.2 semapv:UnspecifiedMatching Orphanet:399380 Osteonecrosis of genetic origin oboInOwl:hasDbXref UMLS:C5680035 semapv:UnspecifiedMatching @@ -33911,10 +33682,6 @@ Orphanet:400443 DnaJ heat shock protein family (Hsp40) member C13 oboInOwl:hasDb Orphanet:400463 TUB bipartite transcription factor oboInOwl:hasDbXref ENSEMBL:ENSG00000166402 semapv:UnspecifiedMatching Orphanet:400463 TUB bipartite transcription factor oboInOwl:hasDbXref OMIM:601197 semapv:UnspecifiedMatching Orphanet:400463 TUB bipartite transcription factor oboInOwl:hasDbXref uniprot:P50607 semapv:UnspecifiedMatching -Orphanet:40050 NON RARE IN EUROPE: Psoriatic arthritis oboInOwl:hasDbXref ICD10:L40.5 semapv:UnspecifiedMatching -Orphanet:40050 NON RARE IN EUROPE: Psoriatic arthritis oboInOwl:hasDbXref ICD10:L40.5 semapv:UnspecifiedMatching -Orphanet:40050 NON RARE IN EUROPE: Psoriatic arthritis oboInOwl:hasDbXref ICD10:M07.3 semapv:UnspecifiedMatching -Orphanet:40050 NON RARE IN EUROPE: Psoriatic arthritis oboInOwl:hasDbXref ICD10:M07.3 semapv:UnspecifiedMatching Orphanet:400605 LYR motif containing 4 oboInOwl:hasDbXref ENSEMBL:ENSG00000214113 semapv:UnspecifiedMatching Orphanet:400605 LYR motif containing 4 oboInOwl:hasDbXref OMIM:613311 semapv:UnspecifiedMatching Orphanet:400605 LYR motif containing 4 oboInOwl:hasDbXref uniprot:Q9HD34 semapv:UnspecifiedMatching @@ -34040,8 +33807,6 @@ Orphanet:401820 Autosomal recessive spastic paraplegia type 67 oboInOwl:hasDbXre Orphanet:401820 Autosomal recessive spastic paraplegia type 67 oboInOwl:hasDbXref OMIM:615802 semapv:UnspecifiedMatching Orphanet:401820 Autosomal recessive spastic paraplegia type 67 oboInOwl:hasDbXref UMLS:C4707829 semapv:UnspecifiedMatching Orphanet:401820 Autosomal recessive spastic paraplegia type 67 oboInOwl:hasDbXref icd11:8B44.01 semapv:UnspecifiedMatching -Orphanet:401825 Autosomal recessive spastic paraplegia type 68 oboInOwl:hasDbXref ICD10:G82.1 semapv:UnspecifiedMatching -Orphanet:401825 Autosomal recessive spastic paraplegia type 68 oboInOwl:hasDbXref ICD10:G82.1 semapv:UnspecifiedMatching Orphanet:401830 Autosomal recessive spastic paraplegia type 69 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401830 Autosomal recessive spastic paraplegia type 69 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:401830 Autosomal recessive spastic paraplegia type 69 oboInOwl:hasDbXref UMLS:C5190577 semapv:UnspecifiedMatching @@ -34155,6 +33920,7 @@ Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratode Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering oboInOwl:hasDbXref OMIM:615735 semapv:UnspecifiedMatching Orphanet:402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering oboInOwl:hasDbXref UMLS:C5190822 semapv:UnspecifiedMatching +Orphanet:402007 Lichen myxedematosus oboInOwl:hasDbXref MedDRA:10055046 semapv:UnspecifiedMatching Orphanet:402007 Lichen myxedematosus oboInOwl:hasDbXref icd11:EB90.1 semapv:UnspecifiedMatching Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching Orphanet:402014 Acute myeloid leukemia with t(6;9)(p23;q34) oboInOwl:hasDbXref ICD10:C92.0 semapv:UnspecifiedMatching @@ -34199,9 +33965,9 @@ Orphanet:402364 Infantile cerebral and cerebellar atrophy with postnatal progres Orphanet:402368 glutaredoxin and cysteine rich domain containing 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000204928 semapv:UnspecifiedMatching Orphanet:402368 glutaredoxin and cysteine rich domain containing 2 oboInOwl:hasDbXref OMIM:615762 semapv:UnspecifiedMatching Orphanet:402368 glutaredoxin and cysteine rich domain containing 2 oboInOwl:hasDbXref uniprot:A6NFK2 semapv:UnspecifiedMatching -Orphanet:402371 epidermal growth factor receptor pathway substrate 8 oboInOwl:hasDbXref ENSEMBL:ENSG00000151491 semapv:UnspecifiedMatching -Orphanet:402371 epidermal growth factor receptor pathway substrate 8 oboInOwl:hasDbXref OMIM:600206 semapv:UnspecifiedMatching -Orphanet:402371 epidermal growth factor receptor pathway substrate 8 oboInOwl:hasDbXref uniprot:Q12929 semapv:UnspecifiedMatching +Orphanet:402371 EGFR pathway substrate 8, signaling adaptor oboInOwl:hasDbXref ENSEMBL:ENSG00000151491 semapv:UnspecifiedMatching +Orphanet:402371 EGFR pathway substrate 8, signaling adaptor oboInOwl:hasDbXref OMIM:600206 semapv:UnspecifiedMatching +Orphanet:402371 EGFR pathway substrate 8, signaling adaptor oboInOwl:hasDbXref uniprot:Q12929 semapv:UnspecifiedMatching Orphanet:402379 interleukin 21 oboInOwl:hasDbXref ENSEMBL:ENSG00000138684 semapv:UnspecifiedMatching Orphanet:402379 interleukin 21 oboInOwl:hasDbXref OMIM:605384 semapv:UnspecifiedMatching Orphanet:402379 interleukin 21 oboInOwl:hasDbXref uniprot:Q9HBE4 semapv:UnspecifiedMatching @@ -34231,15 +33997,16 @@ Orphanet:402823 Hepatitis delta oboInOwl:hasDbXref UMLS:C0011226 semapv:Unspecif Orphanet:402823 Hepatitis delta oboInOwl:hasDbXref icd11:1E51.2 semapv:UnspecifiedMatching Orphanet:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching Orphanet:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching +Orphanet:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref MESH:C563177 semapv:UnspecifiedMatching Orphanet:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref OMIM:103900 semapv:UnspecifiedMatching Orphanet:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref UMLS:C3838731 semapv:UnspecifiedMatching Orphanet:403 Familial hyperaldosteronism type I oboInOwl:hasDbXref icd11:5A72.0 semapv:UnspecifiedMatching Orphanet:403061 epithelial membrane protein 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000213853 semapv:UnspecifiedMatching Orphanet:403061 epithelial membrane protein 2 oboInOwl:hasDbXref OMIM:602334 semapv:UnspecifiedMatching Orphanet:403061 epithelial membrane protein 2 oboInOwl:hasDbXref uniprot:P54851 semapv:UnspecifiedMatching -Orphanet:403096 pre-mRNA processing factor 4 oboInOwl:hasDbXref ENSEMBL:ENSG00000136875 semapv:UnspecifiedMatching -Orphanet:403096 pre-mRNA processing factor 4 oboInOwl:hasDbXref OMIM:607795 semapv:UnspecifiedMatching -Orphanet:403096 pre-mRNA processing factor 4 oboInOwl:hasDbXref uniprot:O43172 semapv:UnspecifiedMatching +Orphanet:403096 pre-mRNA splicing tri-snRNP complex factor PRPF4 oboInOwl:hasDbXref ENSEMBL:ENSG00000136875 semapv:UnspecifiedMatching +Orphanet:403096 pre-mRNA splicing tri-snRNP complex factor PRPF4 oboInOwl:hasDbXref OMIM:607795 semapv:UnspecifiedMatching +Orphanet:403096 pre-mRNA splicing tri-snRNP complex factor PRPF4 oboInOwl:hasDbXref uniprot:O43172 semapv:UnspecifiedMatching Orphanet:403281 ERCC excision repair 6 like 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000182150 semapv:UnspecifiedMatching Orphanet:403281 ERCC excision repair 6 like 2 oboInOwl:hasDbXref OMIM:615667 semapv:UnspecifiedMatching Orphanet:403281 ERCC excision repair 6 like 2 oboInOwl:hasDbXref uniprot:Q5T890 semapv:UnspecifiedMatching @@ -34397,10 +34164,10 @@ Orphanet:404546 DITRA oboInOwl:hasDbXref ICD10:L40.1 semapv:UnspecifiedMatching Orphanet:404546 DITRA oboInOwl:hasDbXref ICD10:L40.1 semapv:UnspecifiedMatching Orphanet:404546 DITRA oboInOwl:hasDbXref OMIM:614204 semapv:UnspecifiedMatching Orphanet:404546 DITRA oboInOwl:hasDbXref UMLS:C4759670 semapv:UnspecifiedMatching -Orphanet:404553 Vasculitis due to ADA2 deficiency oboInOwl:hasDbXref ICD10:M30.8 semapv:UnspecifiedMatching -Orphanet:404553 Vasculitis due to ADA2 deficiency oboInOwl:hasDbXref ICD10:M30.8 semapv:UnspecifiedMatching -Orphanet:404553 Vasculitis due to ADA2 deficiency oboInOwl:hasDbXref OMIM:615688 semapv:UnspecifiedMatching -Orphanet:404553 Vasculitis due to ADA2 deficiency oboInOwl:hasDbXref UMLS:C4749403 semapv:UnspecifiedMatching +Orphanet:404553 Adenosine deaminase 2 deficiency oboInOwl:hasDbXref ICD10:M30.8 semapv:UnspecifiedMatching +Orphanet:404553 Adenosine deaminase 2 deficiency oboInOwl:hasDbXref ICD10:M30.8 semapv:UnspecifiedMatching +Orphanet:404553 Adenosine deaminase 2 deficiency oboInOwl:hasDbXref OMIM:615688 semapv:UnspecifiedMatching +Orphanet:404553 Adenosine deaminase 2 deficiency oboInOwl:hasDbXref UMLS:C4749403 semapv:UnspecifiedMatching Orphanet:404560 Familial atypical multiple mole melanoma syndrome oboInOwl:hasDbXref ICD10:C43.9 semapv:UnspecifiedMatching Orphanet:404560 Familial atypical multiple mole melanoma syndrome oboInOwl:hasDbXref ICD10:C43.9 semapv:UnspecifiedMatching Orphanet:404560 Familial atypical multiple mole melanoma syndrome oboInOwl:hasDbXref OMIM:155600 semapv:UnspecifiedMatching @@ -34663,24 +34430,6 @@ Orphanet:411527 Central retinal vein occlusion oboInOwl:hasDbXref ICD10:H34.8 se Orphanet:411527 Central retinal vein occlusion oboInOwl:hasDbXref MedDRA:10007972 semapv:UnspecifiedMatching Orphanet:411527 Central retinal vein occlusion oboInOwl:hasDbXref UMLS:C0154841 semapv:UnspecifiedMatching Orphanet:411527 Central retinal vein occlusion oboInOwl:hasDbXref icd11:9B74.1 semapv:UnspecifiedMatching -Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.0 semapv:UnspecifiedMatching -Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.0 semapv:UnspecifiedMatching -Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.1 semapv:UnspecifiedMatching -Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.1 semapv:UnspecifiedMatching -Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.2 semapv:UnspecifiedMatching -Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.2 semapv:UnspecifiedMatching -Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.3 semapv:UnspecifiedMatching -Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.3 semapv:UnspecifiedMatching -Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.4 semapv:UnspecifiedMatching -Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.4 semapv:UnspecifiedMatching -Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.5 semapv:UnspecifiedMatching -Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.5 semapv:UnspecifiedMatching -Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.6 semapv:UnspecifiedMatching -Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.6 semapv:UnspecifiedMatching -Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.7 semapv:UnspecifiedMatching -Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.7 semapv:UnspecifiedMatching -Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.8 semapv:UnspecifiedMatching -Orphanet:411533 NON RARE IN EUROPE: Melanoma oboInOwl:hasDbXref ICD10:C43.8 semapv:UnspecifiedMatching Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching Orphanet:411536 Mild phosphoribosylpyrophosphate synthetase superactivity oboInOwl:hasDbXref OMIM:300661 semapv:UnspecifiedMatching @@ -34763,8 +34512,6 @@ Orphanet:411788 Familial isolated trichomegaly oboInOwl:hasDbXref icd11:LD27.0Y Orphanet:411802 fibroblast growth factor 5 oboInOwl:hasDbXref ENSEMBL:ENSG00000138675 semapv:UnspecifiedMatching Orphanet:411802 fibroblast growth factor 5 oboInOwl:hasDbXref OMIM:165190 semapv:UnspecifiedMatching Orphanet:411802 fibroblast growth factor 5 oboInOwl:hasDbXref uniprot:P12034 semapv:UnspecifiedMatching -Orphanet:411969 NON RARE IN EUROPE: Metabolic syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -Orphanet:411969 NON RARE IN EUROPE: Metabolic syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:615859 semapv:UnspecifiedMatching @@ -34860,6 +34607,7 @@ Orphanet:413979 potassium voltage-gated channel subfamily B member 1 oboInOwl:ha Orphanet:413979 potassium voltage-gated channel subfamily B member 1 oboInOwl:hasDbXref uniprot:Q14721 semapv:UnspecifiedMatching Orphanet:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching Orphanet:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching +Orphanet:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref MESH:D015799 semapv:UnspecifiedMatching Orphanet:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref OMIM:258870 semapv:UnspecifiedMatching Orphanet:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref UMLS:C0018425 semapv:UnspecifiedMatching Orphanet:414 Gyrate atrophy of choroid and retina oboInOwl:hasDbXref icd11:5C50.9 semapv:UnspecifiedMatching @@ -34889,27 +34637,11 @@ Orphanet:415155 dedicator of cytokinesis 7 oboInOwl:hasDbXref uniprot:Q96N67 sem Orphanet:415196 exosome component 8 oboInOwl:hasDbXref ENSEMBL:ENSG00000120699 semapv:UnspecifiedMatching Orphanet:415196 exosome component 8 oboInOwl:hasDbXref OMIM:606019 semapv:UnspecifiedMatching Orphanet:415196 exosome component 8 oboInOwl:hasDbXref uniprot:Q96B26 semapv:UnspecifiedMatching -Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.0 semapv:UnspecifiedMatching -Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.0 semapv:UnspecifiedMatching -Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching -Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching -Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching -Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching -Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching -Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching -Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching -Orphanet:415268 NON RARE IN EUROPE: Adenocarcinoma of the lung oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching Orphanet:415286 Bilirubin encephalopathy oboInOwl:hasDbXref ICD10:P57 semapv:UnspecifiedMatching Orphanet:415286 Bilirubin encephalopathy oboInOwl:hasDbXref ICD10:P57 semapv:UnspecifiedMatching Orphanet:415286 Bilirubin encephalopathy oboInOwl:hasDbXref MESH:D007647 semapv:UnspecifiedMatching Orphanet:415286 Bilirubin encephalopathy oboInOwl:hasDbXref MedDRA:10023376 semapv:UnspecifiedMatching Orphanet:415286 Bilirubin encephalopathy oboInOwl:hasDbXref UMLS:C0022610 semapv:UnspecifiedMatching -Orphanet:415300 NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy oboInOwl:hasDbXref ICD10:H47.0 semapv:UnspecifiedMatching -Orphanet:415300 NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy oboInOwl:hasDbXref ICD10:H47.0 semapv:UnspecifiedMatching -Orphanet:415687 NON RARE IN EUROPE: Sudden infant death syndrome oboInOwl:hasDbXref ICD10:R95.0 semapv:UnspecifiedMatching -Orphanet:415687 NON RARE IN EUROPE: Sudden infant death syndrome oboInOwl:hasDbXref ICD10:R95.0 semapv:UnspecifiedMatching -Orphanet:415687 NON RARE IN EUROPE: Sudden infant death syndrome oboInOwl:hasDbXref ICD10:R95.9 semapv:UnspecifiedMatching -Orphanet:415687 NON RARE IN EUROPE: Sudden infant death syndrome oboInOwl:hasDbXref ICD10:R95.9 semapv:UnspecifiedMatching Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching Orphanet:416 Primary hyperoxaluria oboInOwl:hasDbXref MESH:D006960 semapv:UnspecifiedMatching @@ -35076,6 +34808,8 @@ Orphanet:420492 Adult-onset cervical dystonia, DYT23 type oboInOwl:hasDbXref OMI Orphanet:420492 Adult-onset cervical dystonia, DYT23 type oboInOwl:hasDbXref UMLS:C3538999 semapv:UnspecifiedMatching Orphanet:420556 Visual snow syndrome oboInOwl:hasDbXref ICD10:H53.8 semapv:UnspecifiedMatching Orphanet:420556 Visual snow syndrome oboInOwl:hasDbXref ICD10:H53.8 semapv:UnspecifiedMatching +Orphanet:420556 Visual snow syndrome oboInOwl:hasDbXref MESH:C000726567 semapv:UnspecifiedMatching +Orphanet:420556 Visual snow syndrome oboInOwl:hasDbXref MedDRA:10079450 semapv:UnspecifiedMatching Orphanet:420556 Visual snow syndrome oboInOwl:hasDbXref UMLS:C4324662 semapv:UnspecifiedMatching Orphanet:420561 Temple-Baraitser syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:420561 Temple-Baraitser syndrome oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching @@ -35229,11 +34963,11 @@ Orphanet:423296 Spinocerebellar ataxia type 38 oboInOwl:hasDbXref icd11:8A03.16 Orphanet:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4749647 semapv:UnspecifiedMatching -Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching -Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref OMIM:616022 semapv:UnspecifiedMatching -Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref UMLS:C5190861 semapv:UnspecifiedMatching -Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching +Orphanet:423384 Severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:423384 Severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref ICD10:D70 semapv:UnspecifiedMatching +Orphanet:423384 Severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref OMIM:616022 semapv:UnspecifiedMatching +Orphanet:423384 Severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref UMLS:C5190861 semapv:UnspecifiedMatching +Orphanet:423384 Severe congenital neutropenia due to JAGN1 deficiency oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching Orphanet:423450 solute carrier family 6 member 17 oboInOwl:hasDbXref ENSEMBL:ENSG00000197106 semapv:UnspecifiedMatching Orphanet:423450 solute carrier family 6 member 17 oboInOwl:hasDbXref OMIM:610299 semapv:UnspecifiedMatching Orphanet:423450 solute carrier family 6 member 17 oboInOwl:hasDbXref uniprot:Q9H1V8 semapv:UnspecifiedMatching @@ -35250,14 +34984,12 @@ Orphanet:423470 Mucolipidosis type III gamma oboInOwl:hasDbXref ICD10:E77.0 sema Orphanet:423470 Mucolipidosis type III gamma oboInOwl:hasDbXref OMIM:252605 semapv:UnspecifiedMatching Orphanet:423470 Mucolipidosis type III gamma oboInOwl:hasDbXref UMLS:C1854896 semapv:UnspecifiedMatching Orphanet:423470 Mucolipidosis type III gamma oboInOwl:hasDbXref icd11:5C56.20 semapv:UnspecifiedMatching -Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching -Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome oboInOwl:hasDbXref UMLS:C4517296 semapv:UnspecifiedMatching -Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching +Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching +Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency oboInOwl:hasDbXref UMLS:C4517296 semapv:UnspecifiedMatching +Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum oboInOwl:hasDbXref UMLS:C5681206 semapv:UnspecifiedMatching Orphanet:423662 Rare autonomic nervous system disorder oboInOwl:hasDbXref UMLS:C5681205 semapv:UnspecifiedMatching -Orphanet:423668 NON RARE IN EUROPE: Cortisol-producing adrenal tumor oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching -Orphanet:423668 NON RARE IN EUROPE: Cortisol-producing adrenal tumor oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect oboInOwl:hasDbXref UMLS:C5680070 semapv:UnspecifiedMatching @@ -35267,6 +34999,7 @@ Orphanet:423712 Double outlet right ventricle with atrioventricular septal defec Orphanet:423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy oboInOwl:hasDbXref UMLS:C5680071 semapv:UnspecifiedMatching Orphanet:423717 Cutaneous larva migrans oboInOwl:hasDbXref ICD10:B76.9 semapv:UnspecifiedMatching Orphanet:423717 Cutaneous larva migrans oboInOwl:hasDbXref ICD10:B76.9 semapv:UnspecifiedMatching +Orphanet:423717 Cutaneous larva migrans oboInOwl:hasDbXref MedDRA:10059547 semapv:UnspecifiedMatching Orphanet:423717 Cutaneous larva migrans oboInOwl:hasDbXref UMLS:C0546999 semapv:UnspecifiedMatching Orphanet:423717 Cutaneous larva migrans oboInOwl:hasDbXref icd11:1F68.2 semapv:UnspecifiedMatching Orphanet:423771 Rare carcinoma of stomach oboInOwl:hasDbXref UMLS:C5680069 semapv:UnspecifiedMatching @@ -35305,6 +35038,8 @@ Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXre Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.8 semapv:UnspecifiedMatching Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref ICD10:C17.8 semapv:UnspecifiedMatching Orphanet:423968 Squamous cell carcinoma of the small intestine oboInOwl:hasDbXref UMLS:C4707899 semapv:UnspecifiedMatching +Orphanet:423975 Neuroendocrine tumor of the small intestine oboInOwl:hasDbXref MedDRA:10085940 semapv:UnspecifiedMatching +Orphanet:423975 Neuroendocrine tumor of the small intestine oboInOwl:hasDbXref UMLS:C1336005 semapv:UnspecifiedMatching Orphanet:423982 Epithelial tumor of the appendix oboInOwl:hasDbXref UMLS:C5680073 semapv:UnspecifiedMatching Orphanet:423991 Rare epithelial tumor of colon oboInOwl:hasDbXref UMLS:C5681208 semapv:UnspecifiedMatching Orphanet:423994 Squamous cell carcinoma of the colon oboInOwl:hasDbXref ICD10:C18.0 semapv:UnspecifiedMatching @@ -35388,6 +35123,7 @@ Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref I Orphanet:424053 Mucinous cystadenocarcinoma of the pancreas oboInOwl:hasDbXref UMLS:C2063873 semapv:UnspecifiedMatching Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.3 semapv:UnspecifiedMatching Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.3 semapv:UnspecifiedMatching +Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas oboInOwl:hasDbXref MedDRA:10073365 semapv:UnspecifiedMatching Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas oboInOwl:hasDbXref UMLS:C1335304 semapv:UnspecifiedMatching Orphanet:424058 Intraductal papillary mucinous carcinoma of pancreas oboInOwl:hasDbXref icd11:2C10.0 semapv:UnspecifiedMatching Orphanet:424065 Solid pseudopapillary carcinoma of pancreas oboInOwl:hasDbXref ICD10:C25.0 semapv:UnspecifiedMatching @@ -35487,8 +35223,6 @@ Orphanet:425120 STING-associated vasculopathy with onset in infancy oboInOwl:has Orphanet:425120 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref OMIM:615934 semapv:UnspecifiedMatching Orphanet:425120 STING-associated vasculopathy with onset in infancy oboInOwl:hasDbXref UMLS:C4014722 semapv:UnspecifiedMatching Orphanet:425368 Rare epithelial tumor of small intestine oboInOwl:hasDbXref UMLS:C5680079 semapv:UnspecifiedMatching -Orphanet:426 NON RARE IN EUROPE: Familial hypobetalipoproteinemia oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching -Orphanet:426 NON RARE IN EUROPE: Familial hypobetalipoproteinemia oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching Orphanet:426000 prolyl 4-hydroxylase subunit beta oboInOwl:hasDbXref ENSEMBL:ENSG00000185624 semapv:UnspecifiedMatching Orphanet:426000 prolyl 4-hydroxylase subunit beta oboInOwl:hasDbXref OMIM:176790 semapv:UnspecifiedMatching Orphanet:426000 prolyl 4-hydroxylase subunit beta oboInOwl:hasDbXref uniprot:P07237 semapv:UnspecifiedMatching @@ -35507,9 +35241,9 @@ Orphanet:426073 salt inducible kinase 1 oboInOwl:hasDbXref uniprot:P57059 semapv Orphanet:426083 hippocalcin oboInOwl:hasDbXref ENSEMBL:ENSG00000121905 semapv:UnspecifiedMatching Orphanet:426083 hippocalcin oboInOwl:hasDbXref OMIM:142622 semapv:UnspecifiedMatching Orphanet:426083 hippocalcin oboInOwl:hasDbXref uniprot:P84074 semapv:UnspecifiedMatching -Orphanet:426086 tubulin gamma complex associated protein 4 oboInOwl:hasDbXref ENSEMBL:ENSG00000137822 semapv:UnspecifiedMatching -Orphanet:426086 tubulin gamma complex associated protein 4 oboInOwl:hasDbXref OMIM:609610 semapv:UnspecifiedMatching -Orphanet:426086 tubulin gamma complex associated protein 4 oboInOwl:hasDbXref uniprot:Q9UGJ1 semapv:UnspecifiedMatching +Orphanet:426086 tubulin gamma complex component 4 oboInOwl:hasDbXref ENSEMBL:ENSG00000137822 semapv:UnspecifiedMatching +Orphanet:426086 tubulin gamma complex component 4 oboInOwl:hasDbXref OMIM:609610 semapv:UnspecifiedMatching +Orphanet:426086 tubulin gamma complex component 4 oboInOwl:hasDbXref uniprot:Q9UGJ1 semapv:UnspecifiedMatching Orphanet:426145 G protein-coupled receptor 161 oboInOwl:hasDbXref ENSEMBL:ENSG00000143147 semapv:UnspecifiedMatching Orphanet:426145 G protein-coupled receptor 161 oboInOwl:hasDbXref OMIM:612250 semapv:UnspecifiedMatching Orphanet:426145 G protein-coupled receptor 161 oboInOwl:hasDbXref uniprot:Q8N6U8 semapv:UnspecifiedMatching @@ -35554,7 +35288,6 @@ Orphanet:42738 Severe congenital neutropenia oboInOwl:hasDbXref UMLS:C1853118 se Orphanet:42775 PHACE syndrome oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching Orphanet:42775 PHACE syndrome oboInOwl:hasDbXref ICD10:Q28.8 semapv:UnspecifiedMatching Orphanet:42775 PHACE syndrome oboInOwl:hasDbXref MedDRA:10068032 semapv:UnspecifiedMatching -Orphanet:42775 PHACE syndrome oboInOwl:hasDbXref OMIM:140850 semapv:UnspecifiedMatching Orphanet:42775 PHACE syndrome oboInOwl:hasDbXref OMIM:606519 semapv:UnspecifiedMatching Orphanet:42775 PHACE syndrome oboInOwl:hasDbXref UMLS:C3698479 semapv:UnspecifiedMatching Orphanet:42775 PHACE syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching @@ -35649,6 +35382,7 @@ Orphanet:431272 X-linked scapuloperoneal muscular dystrophy oboInOwl:hasDbXref I Orphanet:431272 X-linked scapuloperoneal muscular dystrophy oboInOwl:hasDbXref OMIM:300695 semapv:UnspecifiedMatching Orphanet:431272 X-linked scapuloperoneal muscular dystrophy oboInOwl:hasDbXref UMLS:C5399872 semapv:UnspecifiedMatching Orphanet:431272 X-linked scapuloperoneal muscular dystrophy oboInOwl:hasDbXref icd11:8C70.5 semapv:UnspecifiedMatching +Orphanet:431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder oboInOwl:hasDbXref UMLS:C5230629 semapv:UnspecifiedMatching Orphanet:431329 Autosomal recessive spastic paraplegia type 57 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:431329 Autosomal recessive spastic paraplegia type 57 oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:431329 Autosomal recessive spastic paraplegia type 57 oboInOwl:hasDbXref OMIM:615658 semapv:UnspecifiedMatching @@ -35887,7 +35621,6 @@ Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndr Orphanet:435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome oboInOwl:hasDbXref UMLS:C5681177 semapv:UnspecifiedMatching Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching -Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation oboInOwl:hasDbXref OMIM:604484 semapv:UnspecifiedMatching Orphanet:435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation oboInOwl:hasDbXref UMLS:C5569028 semapv:UnspecifiedMatching Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching @@ -35932,13 +35665,12 @@ Orphanet:436 Hypophosphatasia oboInOwl:hasDbXref icd11:5C64.3 semapv:Unspecified Orphanet:436003 Contractures-developmental delay-Pierre Robin syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:436003 Contractures-developmental delay-Pierre Robin syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:436003 Contractures-developmental delay-Pierre Robin syndrome oboInOwl:hasDbXref UMLS:C5680042 semapv:UnspecifiedMatching -Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome oboInOwl:hasDbXref OMIM:618493 semapv:UnspecifiedMatching -Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome oboInOwl:hasDbXref UMLS:C5681179 semapv:UnspecifiedMatching +Orphanet:436141 HIDEA syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:436141 HIDEA syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:436141 HIDEA syndrome oboInOwl:hasDbXref OMIM:618493 semapv:UnspecifiedMatching +Orphanet:436141 HIDEA syndrome oboInOwl:hasDbXref UMLS:C5681179 semapv:UnspecifiedMatching Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome oboInOwl:hasDbXref OMIM:614732 semapv:UnspecifiedMatching Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome oboInOwl:hasDbXref UMLS:C5681180 semapv:UnspecifiedMatching Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching @@ -36183,6 +35915,8 @@ Orphanet:439822 PDE4D haploinsufficiency syndrome oboInOwl:hasDbXref ICD10:Q87.8 Orphanet:439822 PDE4D haploinsufficiency syndrome oboInOwl:hasDbXref OMIM:615668 semapv:UnspecifiedMatching Orphanet:439822 PDE4D haploinsufficiency syndrome oboInOwl:hasDbXref UMLS:C5681186 semapv:UnspecifiedMatching Orphanet:439849 Autosomal recessive severe congenital neutropenia oboInOwl:hasDbXref UMLS:C5447331 semapv:UnspecifiedMatching +Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching +Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease oboInOwl:hasDbXref MESH:C564888 semapv:UnspecifiedMatching Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease oboInOwl:hasDbXref OMIM:261740 semapv:UnspecifiedMatching Orphanet:439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease oboInOwl:hasDbXref UMLS:C1849813 semapv:UnspecifiedMatching @@ -36231,6 +35965,7 @@ Orphanet:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hear Orphanet:440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome oboInOwl:hasDbXref UMLS:C5680056 semapv:UnspecifiedMatching Orphanet:440368 Necrotizing soft tissue infection oboInOwl:hasDbXref ICD10:M72.6 semapv:UnspecifiedMatching Orphanet:440368 Necrotizing soft tissue infection oboInOwl:hasDbXref ICD10:M72.6 semapv:UnspecifiedMatching +Orphanet:440368 Necrotizing soft tissue infection oboInOwl:hasDbXref MedDRA:10076637 semapv:UnspecifiedMatching Orphanet:440368 Necrotizing soft tissue infection oboInOwl:hasDbXref UMLS:C2732890 semapv:UnspecifiedMatching Orphanet:440392 Interstitial lung disease due to SP-C deficiency oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching Orphanet:440392 Interstitial lung disease due to SP-C deficiency oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching @@ -36286,6 +36021,7 @@ Orphanet:440731 L-ferritin deficiency oboInOwl:hasDbXref UMLS:C3810090 semapv:Un Orphanet:440987 Isolated agenesis of gallbladder oboInOwl:hasDbXref ICD10:Q44.0 semapv:UnspecifiedMatching Orphanet:440987 Isolated agenesis of gallbladder oboInOwl:hasDbXref ICD10:Q44.0 semapv:UnspecifiedMatching Orphanet:440987 Isolated agenesis of gallbladder oboInOwl:hasDbXref MESH:C562564 semapv:UnspecifiedMatching +Orphanet:440987 Isolated agenesis of gallbladder oboInOwl:hasDbXref MedDRA:10079018 semapv:UnspecifiedMatching Orphanet:440987 Isolated agenesis of gallbladder oboInOwl:hasDbXref UMLS:C0266251 semapv:UnspecifiedMatching Orphanet:440987 Isolated agenesis of gallbladder oboInOwl:hasDbXref icd11:LB20.10 semapv:UnspecifiedMatching Orphanet:441 Pure autonomic failure oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching @@ -36433,6 +36169,7 @@ Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desm Orphanet:443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency oboInOwl:hasDbXref UMLS:C5681195 semapv:UnspecifiedMatching Orphanet:443090 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect oboInOwl:hasDbXref UMLS:C5681194 semapv:UnspecifiedMatching Orphanet:443095 Hyperinsulinemic hypoglycaemia oboInOwl:hasDbXref MedDRA:10077216 semapv:UnspecifiedMatching +Orphanet:443095 Hyperinsulinemic hypoglycaemia oboInOwl:hasDbXref UMLS:C1864903 semapv:UnspecifiedMatching Orphanet:443098 Hyperostosis cranialis interna oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching Orphanet:443098 Hyperostosis cranialis interna oboInOwl:hasDbXref ICD10:M85.2 semapv:UnspecifiedMatching Orphanet:443098 Hyperostosis cranialis interna oboInOwl:hasDbXref MESH:C564168 semapv:UnspecifiedMatching @@ -36478,6 +36215,7 @@ Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.3 semapv:Unspecif Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.4 semapv:UnspecifiedMatching Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref ICD10:A01.4 semapv:UnspecifiedMatching Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref MESH:D010284 semapv:UnspecifiedMatching +Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref MedDRA:10033971 semapv:UnspecifiedMatching Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref UMLS:C0030528 semapv:UnspecifiedMatching Orphanet:443227 Paratyphoid fever oboInOwl:hasDbXref icd11:1A08 semapv:UnspecifiedMatching Orphanet:443236 Postural orthostatic tachycardia syndrome due to NET deficiency oboInOwl:hasDbXref ICD10:I95.1 semapv:UnspecifiedMatching @@ -36491,6 +36229,7 @@ Orphanet:443804 Focal stiff limb syndrome oboInOwl:hasDbXref ICD10:G25.8 semapv: Orphanet:443804 Focal stiff limb syndrome oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching Orphanet:443804 Focal stiff limb syndrome oboInOwl:hasDbXref MedDRA:10079359 semapv:UnspecifiedMatching Orphanet:443804 Focal stiff limb syndrome oboInOwl:hasDbXref OMIM:184850 semapv:UnspecifiedMatching +Orphanet:443804 Focal stiff limb syndrome oboInOwl:hasDbXref UMLS:C4324606 semapv:UnspecifiedMatching Orphanet:443811 PGM3-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:443811 PGM3-CDG oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:443811 PGM3-CDG oboInOwl:hasDbXref OMIM:615816 semapv:UnspecifiedMatching @@ -36580,10 +36319,10 @@ Orphanet:444458 Combined oxidative phosphorylation defect type 24 oboInOwl:hasDb Orphanet:444458 Combined oxidative phosphorylation defect type 24 oboInOwl:hasDbXref OMIM:616239 semapv:UnspecifiedMatching Orphanet:444458 Combined oxidative phosphorylation defect type 24 oboInOwl:hasDbXref UMLS:C4015643 semapv:UnspecifiedMatching Orphanet:444458 Combined oxidative phosphorylation defect type 24 oboInOwl:hasDbXref icd11:5C53.23 semapv:UnspecifiedMatching -Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome oboInOwl:hasDbXref OMIM:619220 semapv:UnspecifiedMatching -Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome oboInOwl:hasDbXref UMLS:C5543159 semapv:UnspecifiedMatching +Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency oboInOwl:hasDbXref OMIM:619220 semapv:UnspecifiedMatching +Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency oboInOwl:hasDbXref UMLS:C5543159 semapv:UnspecifiedMatching Orphanet:444490 Familial chylomicronemia syndrome oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching Orphanet:444490 Familial chylomicronemia syndrome oboInOwl:hasDbXref ICD10:E78.3 semapv:UnspecifiedMatching Orphanet:444490 Familial chylomicronemia syndrome oboInOwl:hasDbXref OMIM:118830 semapv:UnspecifiedMatching @@ -36663,12 +36402,12 @@ Orphanet:445018 Combined immunodeficiency due to LRBA deficiency oboInOwl:hasDbX Orphanet:445018 Combined immunodeficiency due to LRBA deficiency oboInOwl:hasDbXref OMIM:614700 semapv:UnspecifiedMatching Orphanet:445018 Combined immunodeficiency due to LRBA deficiency oboInOwl:hasDbXref UMLS:C3553512 semapv:UnspecifiedMatching Orphanet:445018 Combined immunodeficiency due to LRBA deficiency oboInOwl:hasDbXref icd11:4A01.21 semapv:UnspecifiedMatching -Orphanet:445038 3-methylglutaconic aciduria type 7 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -Orphanet:445038 3-methylglutaconic aciduria type 7 oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching -Orphanet:445038 3-methylglutaconic aciduria type 7 oboInOwl:hasDbXref OMIM:616271 semapv:UnspecifiedMatching -Orphanet:445038 3-methylglutaconic aciduria type 7 oboInOwl:hasDbXref OMIM:619835 semapv:UnspecifiedMatching -Orphanet:445038 3-methylglutaconic aciduria type 7 oboInOwl:hasDbXref UMLS:C4225393 semapv:UnspecifiedMatching -Orphanet:445038 3-methylglutaconic aciduria type 7 oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching +Orphanet:445038 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:445038 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:445038 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome oboInOwl:hasDbXref OMIM:616271 semapv:UnspecifiedMatching +Orphanet:445038 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome oboInOwl:hasDbXref OMIM:619835 semapv:UnspecifiedMatching +Orphanet:445038 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome oboInOwl:hasDbXref UMLS:C4225393 semapv:UnspecifiedMatching +Orphanet:445038 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome oboInOwl:hasDbXref OMIM:616192 semapv:UnspecifiedMatching @@ -36828,6 +36567,7 @@ Orphanet:447977 Progressive scapulohumeroperoneal distal myopathy oboInOwl:hasDb Orphanet:447980 19p13.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:447980 19p13.3 microduplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching Orphanet:447980 19p13.3 microduplication syndrome oboInOwl:hasDbXref UMLS:C5679996 semapv:UnspecifiedMatching +Orphanet:447985 Partial duplication of the short arm of chromosome 19 oboInOwl:hasDbXref UMLS:C4518508 semapv:UnspecifiedMatching Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching Orphanet:447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome oboInOwl:hasDbXref OMIM:616657 semapv:UnspecifiedMatching @@ -36842,6 +36582,7 @@ Orphanet:448010 CAD-CDG oboInOwl:hasDbXref icd11:5C54.2 semapv:UnspecifiedMatchi Orphanet:448237 Zika virus disease oboInOwl:hasDbXref ICD10:A92.5 semapv:UnspecifiedMatching Orphanet:448237 Zika virus disease oboInOwl:hasDbXref ICD10:A92.5 semapv:UnspecifiedMatching Orphanet:448237 Zika virus disease oboInOwl:hasDbXref MESH:D000071243 semapv:UnspecifiedMatching +Orphanet:448237 Zika virus disease oboInOwl:hasDbXref MedDRA:10078205 semapv:UnspecifiedMatching Orphanet:448237 Zika virus disease oboInOwl:hasDbXref UMLS:C0276289 semapv:UnspecifiedMatching Orphanet:448237 Zika virus disease oboInOwl:hasDbXref icd11:1D48 semapv:UnspecifiedMatching Orphanet:448242 Autosomal recessive brachyolmia oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching @@ -36974,8 +36715,6 @@ Orphanet:449090 IL12A antisense RNA 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000244040 Orphanet:449094 endoplasmic reticulum aminopeptidase 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000164307 semapv:UnspecifiedMatching Orphanet:449094 endoplasmic reticulum aminopeptidase 1 oboInOwl:hasDbXref OMIM:606832 semapv:UnspecifiedMatching Orphanet:449094 endoplasmic reticulum aminopeptidase 1 oboInOwl:hasDbXref uniprot:Q9NZ08 semapv:UnspecifiedMatching -Orphanet:449262 NON RARE IN EUROPE: Primary bile acid malabsorption oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching -Orphanet:449262 NON RARE IN EUROPE: Primary bile acid malabsorption oboInOwl:hasDbXref ICD10:K90.8 semapv:UnspecifiedMatching Orphanet:449266 Pleural empyema oboInOwl:hasDbXref ICD10:J86.9 semapv:UnspecifiedMatching Orphanet:449266 Pleural empyema oboInOwl:hasDbXref ICD10:J86.9 semapv:UnspecifiedMatching Orphanet:449266 Pleural empyema oboInOwl:hasDbXref MESH:D016724 semapv:UnspecifiedMatching @@ -37008,6 +36747,7 @@ Orphanet:449400 IgG4-related aortitis oboInOwl:hasDbXref UMLS:C5681105 semapv:Un Orphanet:449400 IgG4-related aortitis oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching Orphanet:449427 IgG4-related pachymeningitis oboInOwl:hasDbXref ICD10:G03.9 semapv:UnspecifiedMatching Orphanet:449427 IgG4-related pachymeningitis oboInOwl:hasDbXref ICD10:G03.9 semapv:UnspecifiedMatching +Orphanet:449427 IgG4-related pachymeningitis oboInOwl:hasDbXref UMLS:C4545992 semapv:UnspecifiedMatching Orphanet:449427 IgG4-related pachymeningitis oboInOwl:hasDbXref icd11:4A43.0 semapv:UnspecifiedMatching Orphanet:449432 IgG4-related submandibular gland disease oboInOwl:hasDbXref ICD10:K11.2 semapv:UnspecifiedMatching Orphanet:449432 IgG4-related submandibular gland disease oboInOwl:hasDbXref ICD10:K11.2 semapv:UnspecifiedMatching @@ -37106,7 +36846,6 @@ Orphanet:452 X-linked lissencephaly with abnormal genitalia oboInOwl:hasDbXref M Orphanet:452 X-linked lissencephaly with abnormal genitalia oboInOwl:hasDbXref OMIM:300215 semapv:UnspecifiedMatching Orphanet:452 X-linked lissencephaly with abnormal genitalia oboInOwl:hasDbXref UMLS:C1846171 semapv:UnspecifiedMatching Orphanet:452 X-linked lissencephaly with abnormal genitalia oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching -Orphanet:453 IBIDS syndrome oboInOwl:hasDbXref OMIM:601675 semapv:UnspecifiedMatching Orphanet:453 IBIDS syndrome oboInOwl:hasDbXref UMLS:C1866505 semapv:UnspecifiedMatching Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -37146,6 +36885,7 @@ Orphanet:453713 ovo like zinc finger 2 oboInOwl:hasDbXref uniprot:Q9BRP0 semapv: Orphanet:454 Acquired ichthyosis oboInOwl:hasDbXref ICD10:L85.0 semapv:UnspecifiedMatching Orphanet:454 Acquired ichthyosis oboInOwl:hasDbXref ICD10:L85.0 semapv:UnspecifiedMatching Orphanet:454 Acquired ichthyosis oboInOwl:hasDbXref MESH:C538175 semapv:UnspecifiedMatching +Orphanet:454 Acquired ichthyosis oboInOwl:hasDbXref MedDRA:10021199 semapv:UnspecifiedMatching Orphanet:454 Acquired ichthyosis oboInOwl:hasDbXref UMLS:C0263386 semapv:UnspecifiedMatching Orphanet:454 Acquired ichthyosis oboInOwl:hasDbXref icd11:ED50.0 semapv:UnspecifiedMatching Orphanet:454001 laccase domain containing 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000179630 semapv:UnspecifiedMatching @@ -37173,6 +36913,7 @@ Orphanet:454700 Acquired Creutzfeldt-Jakob disease oboInOwl:hasDbXref OMIM:12340 Orphanet:454700 Acquired Creutzfeldt-Jakob disease oboInOwl:hasDbXref UMLS:C5681100 semapv:UnspecifiedMatching Orphanet:454706 Progressive muscular atrophy oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:454706 Progressive muscular atrophy oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching +Orphanet:454706 Progressive muscular atrophy oboInOwl:hasDbXref MedDRA:10036808 semapv:UnspecifiedMatching Orphanet:454706 Progressive muscular atrophy oboInOwl:hasDbXref UMLS:C0917981 semapv:UnspecifiedMatching Orphanet:454706 Progressive muscular atrophy oboInOwl:hasDbXref icd11:8B60.3 semapv:UnspecifiedMatching Orphanet:454710 Anti-p200 pemphigoid oboInOwl:hasDbXref ICD10:L12.8 semapv:UnspecifiedMatching @@ -37188,6 +36929,7 @@ Orphanet:454714 Plasma cell leukemia oboInOwl:hasDbXref icd11:2A83.4 semapv:Unsp Orphanet:454718 Holmes-Adie syndrome oboInOwl:hasDbXref ICD10:H57.0 semapv:UnspecifiedMatching Orphanet:454718 Holmes-Adie syndrome oboInOwl:hasDbXref ICD10:H57.0 semapv:UnspecifiedMatching Orphanet:454718 Holmes-Adie syndrome oboInOwl:hasDbXref MESH:D000270 semapv:UnspecifiedMatching +Orphanet:454718 Holmes-Adie syndrome oboInOwl:hasDbXref MedDRA:10020352 semapv:UnspecifiedMatching Orphanet:454718 Holmes-Adie syndrome oboInOwl:hasDbXref OMIM:103100 semapv:UnspecifiedMatching Orphanet:454718 Holmes-Adie syndrome oboInOwl:hasDbXref UMLS:C0001519 semapv:UnspecifiedMatching Orphanet:454718 Holmes-Adie syndrome oboInOwl:hasDbXref icd11:9B01.1 semapv:UnspecifiedMatching @@ -37202,6 +36944,7 @@ Orphanet:454742 Variably protease-sensitive prionopathy oboInOwl:hasDbXref icd11 Orphanet:454745 Kuru oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching Orphanet:454745 Kuru oboInOwl:hasDbXref ICD10:A81.8 semapv:UnspecifiedMatching Orphanet:454745 Kuru oboInOwl:hasDbXref MESH:D007729 semapv:UnspecifiedMatching +Orphanet:454745 Kuru oboInOwl:hasDbXref MedDRA:10023497 semapv:UnspecifiedMatching Orphanet:454745 Kuru oboInOwl:hasDbXref OMIM:245300 semapv:UnspecifiedMatching Orphanet:454745 Kuru oboInOwl:hasDbXref UMLS:C0022802 semapv:UnspecifiedMatching Orphanet:454745 Kuru oboInOwl:hasDbXref icd11:8E01.1 semapv:UnspecifiedMatching @@ -37215,6 +36958,7 @@ Orphanet:454821 Pleomorphic salivary gland adenoma oboInOwl:hasDbXref ICD10:D11. Orphanet:454821 Pleomorphic salivary gland adenoma oboInOwl:hasDbXref ICD10:D11.0 semapv:UnspecifiedMatching Orphanet:454821 Pleomorphic salivary gland adenoma oboInOwl:hasDbXref MESH:C563250 semapv:UnspecifiedMatching Orphanet:454821 Pleomorphic salivary gland adenoma oboInOwl:hasDbXref OMIM:181030 semapv:UnspecifiedMatching +Orphanet:454821 Pleomorphic salivary gland adenoma oboInOwl:hasDbXref UMLS:C1519176 semapv:UnspecifiedMatching Orphanet:454831 Acute radiation syndrome oboInOwl:hasDbXref ICD10:T66 semapv:UnspecifiedMatching Orphanet:454831 Acute radiation syndrome oboInOwl:hasDbXref ICD10:T66 semapv:UnspecifiedMatching Orphanet:454831 Acute radiation syndrome oboInOwl:hasDbXref MESH:D054508 semapv:UnspecifiedMatching @@ -37228,6 +36972,7 @@ Orphanet:454836 Avian influenza oboInOwl:hasDbXref icd11:1E31 semapv:Unspecified Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:616415 semapv:UnspecifiedMatching +Orphanet:454840 NTHL1-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref UMLS:C4225157 semapv:UnspecifiedMatching Orphanet:454887 Corticobasal syndrome oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching Orphanet:454887 Corticobasal syndrome oboInOwl:hasDbXref ICD10:G31.0 semapv:UnspecifiedMatching Orphanet:454887 Corticobasal syndrome oboInOwl:hasDbXref MESH:D000088282 semapv:UnspecifiedMatching @@ -37296,9 +37041,6 @@ Orphanet:456828 nucleoporin 205 oboInOwl:hasDbXref uniprot:Q92621 semapv:Unspeci Orphanet:456982 bone morphogenetic protein 6 oboInOwl:hasDbXref ENSEMBL:ENSG00000153162 semapv:UnspecifiedMatching Orphanet:456982 bone morphogenetic protein 6 oboInOwl:hasDbXref OMIM:112266 semapv:UnspecifiedMatching Orphanet:456982 bone morphogenetic protein 6 oboInOwl:hasDbXref uniprot:P22004 semapv:UnspecifiedMatching -Orphanet:456990 lipoyl(octanoyl) transferase 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000175536 semapv:UnspecifiedMatching -Orphanet:456990 lipoyl(octanoyl) transferase 2 oboInOwl:hasDbXref OMIM:617659 semapv:UnspecifiedMatching -Orphanet:456990 lipoyl(octanoyl) transferase 2 oboInOwl:hasDbXref uniprot:A6NK58 semapv:UnspecifiedMatching Orphanet:456998 mitochondrial pyruvate carrier 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000060762 semapv:UnspecifiedMatching Orphanet:456998 mitochondrial pyruvate carrier 1 oboInOwl:hasDbXref OMIM:614738 semapv:UnspecifiedMatching Orphanet:456998 mitochondrial pyruvate carrier 1 oboInOwl:hasDbXref uniprot:Q9Y5U8 semapv:UnspecifiedMatching @@ -37392,8 +37134,6 @@ Orphanet:457246 Clear cell sarcoma of kidney oboInOwl:hasDbXref ICD10:C64 semapv Orphanet:457246 Clear cell sarcoma of kidney oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching Orphanet:457246 Clear cell sarcoma of kidney oboInOwl:hasDbXref MedDRA:10009253 semapv:UnspecifiedMatching Orphanet:457246 Clear cell sarcoma of kidney oboInOwl:hasDbXref UMLS:C0334488 semapv:UnspecifiedMatching -Orphanet:457252 Squamous cell carcinoma of the oral tongue oboInOwl:hasDbXref ICD10:C06.9 semapv:UnspecifiedMatching -Orphanet:457252 Squamous cell carcinoma of the oral tongue oboInOwl:hasDbXref ICD10:C06.9 semapv:UnspecifiedMatching Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome oboInOwl:hasDbXref ICD10:F78.8 semapv:UnspecifiedMatching Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome oboInOwl:hasDbXref ICD10:F78.8 semapv:UnspecifiedMatching Orphanet:457260 X-linked intellectual disability-hypotonia-movement disorder syndrome oboInOwl:hasDbXref OMIM:300958 semapv:UnspecifiedMatching @@ -37473,9 +37213,6 @@ Orphanet:457570 clathrin heavy chain like 1 oboInOwl:hasDbXref uniprot:P53675 se Orphanet:457585 heterogeneous nuclear ribonucleoprotein K oboInOwl:hasDbXref ENSEMBL:ENSG00000165119 semapv:UnspecifiedMatching Orphanet:457585 heterogeneous nuclear ribonucleoprotein K oboInOwl:hasDbXref OMIM:600712 semapv:UnspecifiedMatching Orphanet:457585 heterogeneous nuclear ribonucleoprotein K oboInOwl:hasDbXref uniprot:P61978 semapv:UnspecifiedMatching -Orphanet:457688 EPH receptor A4 oboInOwl:hasDbXref ENSEMBL:ENSG00000116106 semapv:UnspecifiedMatching -Orphanet:457688 EPH receptor A4 oboInOwl:hasDbXref OMIM:602188 semapv:UnspecifiedMatching -Orphanet:457688 EPH receptor A4 oboInOwl:hasDbXref uniprot:P54764 semapv:UnspecifiedMatching Orphanet:457735 LIM domain only 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000166407 semapv:UnspecifiedMatching Orphanet:457735 LIM domain only 1 oboInOwl:hasDbXref OMIM:186921 semapv:UnspecifiedMatching Orphanet:457735 LIM domain only 1 oboInOwl:hasDbXref uniprot:P25800 semapv:UnspecifiedMatching @@ -37494,8 +37231,6 @@ Orphanet:458274 ras responsive element binding protein 1 oboInOwl:hasDbXref unip Orphanet:458278 SEC24 homolog C, COPII coat complex component oboInOwl:hasDbXref ENSEMBL:ENSG00000176986 semapv:UnspecifiedMatching Orphanet:458278 SEC24 homolog C, COPII coat complex component oboInOwl:hasDbXref OMIM:607185 semapv:UnspecifiedMatching Orphanet:458278 SEC24 homolog C, COPII coat complex component oboInOwl:hasDbXref uniprot:P53992 semapv:UnspecifiedMatching -Orphanet:458713 NON RARE IN EUROPE: Specific language impairment oboInOwl:hasDbXref ICD10:F80.0 semapv:UnspecifiedMatching -Orphanet:458713 NON RARE IN EUROPE: Specific language impairment oboInOwl:hasDbXref ICD10:F80.0 semapv:UnspecifiedMatching Orphanet:458718 Idiopathic spontaneous coronary artery dissection oboInOwl:hasDbXref ICD10:I25.4 semapv:UnspecifiedMatching Orphanet:458718 Idiopathic spontaneous coronary artery dissection oboInOwl:hasDbXref ICD10:I25.4 semapv:UnspecifiedMatching Orphanet:458718 Idiopathic spontaneous coronary artery dissection oboInOwl:hasDbXref OMIM:122455 semapv:UnspecifiedMatching @@ -37506,9 +37241,9 @@ Orphanet:458758 Composite hemangioendothelioma oboInOwl:hasDbXref UMLS:C1304513 Orphanet:458763 Retiform hemangioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching Orphanet:458763 Retiform hemangioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching Orphanet:458763 Retiform hemangioendothelioma oboInOwl:hasDbXref UMLS:C1304512 semapv:UnspecifiedMatching -Orphanet:458768 Primary intralymphatic angioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching -Orphanet:458768 Primary intralymphatic angioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching -Orphanet:458768 Primary intralymphatic angioendothelioma oboInOwl:hasDbXref UMLS:C0346087 semapv:UnspecifiedMatching +Orphanet:458768 Papillary intralymphatic angioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching +Orphanet:458768 Papillary intralymphatic angioendothelioma oboInOwl:hasDbXref ICD10:D48.1 semapv:UnspecifiedMatching +Orphanet:458768 Papillary intralymphatic angioendothelioma oboInOwl:hasDbXref UMLS:C0346087 semapv:UnspecifiedMatching Orphanet:458775 Congenital hemangioma oboInOwl:hasDbXref UMLS:C0235753 semapv:UnspecifiedMatching Orphanet:458785 Partially involuting congenital hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:458785 Partially involuting congenital hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching @@ -37525,7 +37260,6 @@ Orphanet:458803 Spinocerebellar ataxia type 42 oboInOwl:hasDbXref ICD10:G11.8 se Orphanet:458803 Spinocerebellar ataxia type 42 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:458803 Spinocerebellar ataxia type 42 oboInOwl:hasDbXref OMIM:616795 semapv:UnspecifiedMatching Orphanet:458803 Spinocerebellar ataxia type 42 oboInOwl:hasDbXref UMLS:C4225205 semapv:UnspecifiedMatching -Orphanet:458827 Vascular tumor with associated anomalies oboInOwl:hasDbXref UMLS:C5681119 semapv:UnspecifiedMatching Orphanet:458830 Rare capillary malformation with associated anomalies oboInOwl:hasDbXref UMLS:C5681120 semapv:UnspecifiedMatching Orphanet:458833 Common cystic lymphatic malformation oboInOwl:hasDbXref UMLS:C5681116 semapv:UnspecifiedMatching Orphanet:458837 Rare combined vascular malformation oboInOwl:hasDbXref UMLS:C5681115 semapv:UnspecifiedMatching @@ -37669,7 +37403,6 @@ Orphanet:460876 calcium voltage-gated channel subunit alpha1 G oboInOwl:hasDbXre Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref ICD10:Q80.1 semapv:UnspecifiedMatching Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref ICD10:Q80.1 semapv:UnspecifiedMatching Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref MESH:D016114 semapv:UnspecifiedMatching -Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref OMIM:300001 semapv:UnspecifiedMatching Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref OMIM:308100 semapv:UnspecifiedMatching Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref UMLS:C2720163 semapv:UnspecifiedMatching Orphanet:461 Recessive X-linked ichthyosis oboInOwl:hasDbXref icd11:EC20.01 semapv:UnspecifiedMatching @@ -37719,8 +37452,6 @@ Orphanet:461782 GTP binding elongation factor GUF1 oboInOwl:hasDbXref OMIM:61706 Orphanet:461782 GTP binding elongation factor GUF1 oboInOwl:hasDbXref uniprot:Q8N442 semapv:UnspecifiedMatching Orphanet:462 NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris oboInOwl:hasDbXref ICD10:Q80.0 semapv:UnspecifiedMatching Orphanet:462 NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris oboInOwl:hasDbXref ICD10:Q80.0 semapv:UnspecifiedMatching -Orphanet:463 NON RARE IN EUROPE: Adrenal incidentaloma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching -Orphanet:463 NON RARE IN EUROPE: Adrenal incidentaloma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching Orphanet:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching Orphanet:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching Orphanet:46348 Paroxysmal extreme pain disorder oboInOwl:hasDbXref MESH:C563475 semapv:UnspecifiedMatching @@ -37761,8 +37492,6 @@ Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay s Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome oboInOwl:hasDbXref OMIM:617157 semapv:UnspecifiedMatching Orphanet:464288 Short stature-brachydactyly-obesity-global developmental delay syndrome oboInOwl:hasDbXref UMLS:C5568868 semapv:UnspecifiedMatching -Orphanet:464293 NON RARE IN EUROPE: Infantile capillary hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching -Orphanet:464293 NON RARE IN EUROPE: Infantile capillary hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:464297 LEM domain nuclear envelope protein 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000161904 semapv:UnspecifiedMatching Orphanet:464297 LEM domain nuclear envelope protein 2 oboInOwl:hasDbXref OMIM:616312 semapv:UnspecifiedMatching Orphanet:464297 LEM domain nuclear envelope protein 2 oboInOwl:hasDbXref uniprot:Q8NC56 semapv:UnspecifiedMatching @@ -37779,6 +37508,7 @@ Orphanet:464311 Intellectual disability syndrome due to a DYRK1A point mutation Orphanet:464318 Verrucous hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:464318 Verrucous hemangioma oboInOwl:hasDbXref ICD10:D18.0 semapv:UnspecifiedMatching Orphanet:464318 Verrucous hemangioma oboInOwl:hasDbXref UMLS:C0334540 semapv:UnspecifiedMatching +Orphanet:464318 Verrucous hemangioma oboInOwl:hasDbXref icd11:LC52 semapv:UnspecifiedMatching Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching Orphanet:464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome oboInOwl:hasDbXref UMLS:C5575322 semapv:UnspecifiedMatching @@ -37803,6 +37533,7 @@ Orphanet:464366 NEK9-related lethal skeletal dysplasia oboInOwl:hasDbXref UMLS:C Orphanet:464370 Neonatal alloimmune neutropenia oboInOwl:hasDbXref ICD10:P61.5 semapv:UnspecifiedMatching Orphanet:464370 Neonatal alloimmune neutropenia oboInOwl:hasDbXref ICD10:P61.5 semapv:UnspecifiedMatching Orphanet:464370 Neonatal alloimmune neutropenia oboInOwl:hasDbXref UMLS:C0272176 semapv:UnspecifiedMatching +Orphanet:464370 Neonatal alloimmune neutropenia oboInOwl:hasDbXref icd11:KA8E semapv:UnspecifiedMatching Orphanet:464440 Primary dystonia, DYT27 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching Orphanet:464440 Primary dystonia, DYT27 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching Orphanet:464440 Primary dystonia, DYT27 type oboInOwl:hasDbXref OMIM:616411 semapv:UnspecifiedMatching @@ -37819,22 +37550,6 @@ Orphanet:464458 Paracetamol poisoning oboInOwl:hasDbXref ICD10:T88.7 semapv:Unsp Orphanet:464458 Paracetamol poisoning oboInOwl:hasDbXref ICD10:T88.7 semapv:UnspecifiedMatching Orphanet:464458 Paracetamol poisoning oboInOwl:hasDbXref UMLS:C0237963 semapv:UnspecifiedMatching Orphanet:464458 Paracetamol poisoning oboInOwl:hasDbXref icd11:NE60 semapv:UnspecifiedMatching -Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.0 semapv:UnspecifiedMatching -Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.0 semapv:UnspecifiedMatching -Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.1 semapv:UnspecifiedMatching -Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.1 semapv:UnspecifiedMatching -Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.2 semapv:UnspecifiedMatching -Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.2 semapv:UnspecifiedMatching -Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.3 semapv:UnspecifiedMatching -Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.3 semapv:UnspecifiedMatching -Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.4 semapv:UnspecifiedMatching -Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.4 semapv:UnspecifiedMatching -Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.5 semapv:UnspecifiedMatching -Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.5 semapv:UnspecifiedMatching -Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.6 semapv:UnspecifiedMatching -Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.6 semapv:UnspecifiedMatching -Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.8 semapv:UnspecifiedMatching -Orphanet:464463 NON RARE IN EUROPE: Adenocarcinoma of stomach oboInOwl:hasDbXref ICD10:C16.8 semapv:UnspecifiedMatching Orphanet:464482 frizzled class receptor 5 oboInOwl:hasDbXref ENSEMBL:ENSG00000163251 semapv:UnspecifiedMatching Orphanet:464482 frizzled class receptor 5 oboInOwl:hasDbXref OMIM:601723 semapv:UnspecifiedMatching Orphanet:464482 frizzled class receptor 5 oboInOwl:hasDbXref uniprot:Q13467 semapv:UnspecifiedMatching @@ -37951,15 +37666,11 @@ Orphanet:466397 lysyl oxidase oboInOwl:hasDbXref uniprot:P28300 semapv:Unspecifi Orphanet:466400 fibroblast growth factor 12 oboInOwl:hasDbXref ENSEMBL:ENSG00000114279 semapv:UnspecifiedMatching Orphanet:466400 fibroblast growth factor 12 oboInOwl:hasDbXref OMIM:601513 semapv:UnspecifiedMatching Orphanet:466400 fibroblast growth factor 12 oboInOwl:hasDbXref uniprot:P61328 semapv:UnspecifiedMatching -Orphanet:46658 Primordial short stature-microdontia-opalescent and rootless teeth syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching -Orphanet:46658 Primordial short stature-microdontia-opalescent and rootless teeth syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:466650 Exercise-induced malignant hyperthermia oboInOwl:hasDbXref ICD10:T88.3 semapv:UnspecifiedMatching Orphanet:466650 Exercise-induced malignant hyperthermia oboInOwl:hasDbXref ICD10:T88.3 semapv:UnspecifiedMatching Orphanet:466650 Exercise-induced malignant hyperthermia oboInOwl:hasDbXref UMLS:C4544037 semapv:UnspecifiedMatching Orphanet:466650 Exercise-induced malignant hyperthermia oboInOwl:hasDbXref icd11:NF06.0 semapv:UnspecifiedMatching Orphanet:466658 Rare disease with malignant hyperthermia oboInOwl:hasDbXref UMLS:C5681128 semapv:UnspecifiedMatching -Orphanet:466667 NON RARE IN EUROPE: Colorectal cancer oboInOwl:hasDbXref ICD10:C18.0 semapv:UnspecifiedMatching -Orphanet:466667 NON RARE IN EUROPE: Colorectal cancer oboInOwl:hasDbXref ICD10:C18.0 semapv:UnspecifiedMatching Orphanet:466670 Cyanide poisoning oboInOwl:hasDbXref ICD10:T65.0 semapv:UnspecifiedMatching Orphanet:466670 Cyanide poisoning oboInOwl:hasDbXref ICD10:T65.0 semapv:UnspecifiedMatching Orphanet:466670 Cyanide poisoning oboInOwl:hasDbXref UMLS:C0238080 semapv:UnspecifiedMatching @@ -38112,6 +37823,7 @@ Orphanet:468699 SLC39A8-CDG oboInOwl:hasDbXref UMLS:C4225234 semapv:UnspecifiedM Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 oboInOwl:hasDbXref OMIM:616716 semapv:UnspecifiedMatching +Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 oboInOwl:hasDbXref UMLS:C4225237 semapv:UnspecifiedMatching Orphanet:468717 Rhizomelic chondrodysplasia punctata type 5 oboInOwl:hasDbXref icd11:LD24.04 semapv:UnspecifiedMatching Orphanet:468726 Severe primary trimethylaminuria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:468726 Severe primary trimethylaminuria oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching @@ -38145,9 +37857,9 @@ Orphanet:469582 component of inhibitor of nuclear factor kappa B kinase complex Orphanet:469734 NME/NM23 family member 7 oboInOwl:hasDbXref ENSEMBL:ENSG00000143156 semapv:UnspecifiedMatching Orphanet:469734 NME/NM23 family member 7 oboInOwl:hasDbXref OMIM:613465 semapv:UnspecifiedMatching Orphanet:469734 NME/NM23 family member 7 oboInOwl:hasDbXref uniprot:Q9Y5B8 semapv:UnspecifiedMatching -Orphanet:469890 ATP binding cassette subfamily C member 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000103222 semapv:UnspecifiedMatching -Orphanet:469890 ATP binding cassette subfamily C member 1 oboInOwl:hasDbXref OMIM:158343 semapv:UnspecifiedMatching -Orphanet:469890 ATP binding cassette subfamily C member 1 oboInOwl:hasDbXref uniprot:P33527 semapv:UnspecifiedMatching +Orphanet:469890 ATP binding cassette subfamily C member 1 (ABCC1 blood group) oboInOwl:hasDbXref ENSEMBL:ENSG00000103222 semapv:UnspecifiedMatching +Orphanet:469890 ATP binding cassette subfamily C member 1 (ABCC1 blood group) oboInOwl:hasDbXref OMIM:158343 semapv:UnspecifiedMatching +Orphanet:469890 ATP binding cassette subfamily C member 1 (ABCC1 blood group) oboInOwl:hasDbXref uniprot:P33527 semapv:UnspecifiedMatching Orphanet:469928 adenylosuccinate synthase 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000185100 semapv:UnspecifiedMatching Orphanet:469928 adenylosuccinate synthase 1 oboInOwl:hasDbXref OMIM:612498 semapv:UnspecifiedMatching Orphanet:469928 adenylosuccinate synthase 1 oboInOwl:hasDbXref uniprot:Q8N142 semapv:UnspecifiedMatching @@ -38163,6 +37875,9 @@ Orphanet:469946 ankyrin repeat and sterile alpha motif domain containing 3 oboIn Orphanet:469950 adaptor related protein complex 3 subunit delta 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000065000 semapv:UnspecifiedMatching Orphanet:469950 adaptor related protein complex 3 subunit delta 1 oboInOwl:hasDbXref OMIM:607246 semapv:UnspecifiedMatching Orphanet:469950 adaptor related protein complex 3 subunit delta 1 oboInOwl:hasDbXref uniprot:O14617 semapv:UnspecifiedMatching +Orphanet:469958 archain 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000095139 semapv:UnspecifiedMatching +Orphanet:469958 archain 1 oboInOwl:hasDbXref OMIM:600820 semapv:UnspecifiedMatching +Orphanet:469958 archain 1 oboInOwl:hasDbXref uniprot:P48444 semapv:UnspecifiedMatching Orphanet:469962 AT-rich interaction domain 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000189079 semapv:UnspecifiedMatching Orphanet:469962 AT-rich interaction domain 2 oboInOwl:hasDbXref OMIM:609539 semapv:UnspecifiedMatching Orphanet:469962 AT-rich interaction domain 2 oboInOwl:hasDbXref uniprot:Q68CP9 semapv:UnspecifiedMatching @@ -38223,6 +37938,9 @@ Orphanet:470052 CD70 molecule oboInOwl:hasDbXref uniprot:P32970 semapv:Unspecifi Orphanet:470056 cell division cycle 42 oboInOwl:hasDbXref ENSEMBL:ENSG00000070831 semapv:UnspecifiedMatching Orphanet:470056 cell division cycle 42 oboInOwl:hasDbXref OMIM:116952 semapv:UnspecifiedMatching Orphanet:470056 cell division cycle 42 oboInOwl:hasDbXref uniprot:P60953 semapv:UnspecifiedMatching +Orphanet:470064 cadherin EGF LAG seven-pass G-type receptor 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000075275 semapv:UnspecifiedMatching +Orphanet:470064 cadherin EGF LAG seven-pass G-type receptor 1 oboInOwl:hasDbXref OMIM:604523 semapv:UnspecifiedMatching +Orphanet:470064 cadherin EGF LAG seven-pass G-type receptor 1 oboInOwl:hasDbXref uniprot:Q9NYQ6 semapv:UnspecifiedMatching Orphanet:470084 chromodomain helicase DNA binding protein 4 oboInOwl:hasDbXref ENSEMBL:ENSG00000111642 semapv:UnspecifiedMatching Orphanet:470084 chromodomain helicase DNA binding protein 4 oboInOwl:hasDbXref OMIM:603277 semapv:UnspecifiedMatching Orphanet:470084 chromodomain helicase DNA binding protein 4 oboInOwl:hasDbXref uniprot:Q14839 semapv:UnspecifiedMatching @@ -38235,6 +37953,9 @@ Orphanet:470098 calcium and integrin binding 1 oboInOwl:hasDbXref uniprot:Q99828 Orphanet:470102 CDKN1A interacting zinc finger protein 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000148337 semapv:UnspecifiedMatching Orphanet:470102 CDKN1A interacting zinc finger protein 1 oboInOwl:hasDbXref OMIM:611420 semapv:UnspecifiedMatching Orphanet:470102 CDKN1A interacting zinc finger protein 1 oboInOwl:hasDbXref uniprot:Q9ULV3 semapv:UnspecifiedMatching +Orphanet:470116 collagen beta(1-O)galactosyltransferase 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000130309 semapv:UnspecifiedMatching +Orphanet:470116 collagen beta(1-O)galactosyltransferase 1 oboInOwl:hasDbXref OMIM:617531 semapv:UnspecifiedMatching +Orphanet:470116 collagen beta(1-O)galactosyltransferase 1 oboInOwl:hasDbXref uniprot:Q8NBJ5 semapv:UnspecifiedMatching Orphanet:470128 coenzyme Q7, hydroxylase oboInOwl:hasDbXref ENSEMBL:ENSG00000167186 semapv:UnspecifiedMatching Orphanet:470128 coenzyme Q7, hydroxylase oboInOwl:hasDbXref OMIM:601683 semapv:UnspecifiedMatching Orphanet:470128 coenzyme Q7, hydroxylase oboInOwl:hasDbXref uniprot:Q99807 semapv:UnspecifiedMatching @@ -38250,9 +37971,6 @@ Orphanet:470150 cut like homeobox 1 oboInOwl:hasDbXref uniprot:P39880 semapv:Uns Orphanet:470152 cut like homeobox 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000111249 semapv:UnspecifiedMatching Orphanet:470152 cut like homeobox 2 oboInOwl:hasDbXref OMIM:610648 semapv:UnspecifiedMatching Orphanet:470152 cut like homeobox 2 oboInOwl:hasDbXref uniprot:O14529 semapv:UnspecifiedMatching -Orphanet:470170 death domain associated protein oboInOwl:hasDbXref ENSEMBL:ENSG00000204209 semapv:UnspecifiedMatching -Orphanet:470170 death domain associated protein oboInOwl:hasDbXref OMIM:603186 semapv:UnspecifiedMatching -Orphanet:470170 death domain associated protein oboInOwl:hasDbXref uniprot:Q9UER7 semapv:UnspecifiedMatching Orphanet:470180 DEAD-box helicase 41 oboInOwl:hasDbXref ENSEMBL:ENSG00000183258 semapv:UnspecifiedMatching Orphanet:470180 DEAD-box helicase 41 oboInOwl:hasDbXref OMIM:608170 semapv:UnspecifiedMatching Orphanet:470180 DEAD-box helicase 41 oboInOwl:hasDbXref uniprot:Q9UJV9 semapv:UnspecifiedMatching @@ -38268,9 +37986,6 @@ Orphanet:470204 discs large MAGUK scaffold protein 1 oboInOwl:hasDbXref uniprot: Orphanet:470220 distal-less homeobox 6 oboInOwl:hasDbXref ENSEMBL:ENSG00000006377 semapv:UnspecifiedMatching Orphanet:470220 distal-less homeobox 6 oboInOwl:hasDbXref OMIM:600030 semapv:UnspecifiedMatching Orphanet:470220 distal-less homeobox 6 oboInOwl:hasDbXref uniprot:P56179 semapv:UnspecifiedMatching -Orphanet:470228 doublesex and mab-3 related transcription factor 3 oboInOwl:hasDbXref ENSEMBL:ENSG00000064218 semapv:UnspecifiedMatching -Orphanet:470228 doublesex and mab-3 related transcription factor 3 oboInOwl:hasDbXref OMIM:614754 semapv:UnspecifiedMatching -Orphanet:470228 doublesex and mab-3 related transcription factor 3 oboInOwl:hasDbXref uniprot:Q9NQL9 semapv:UnspecifiedMatching Orphanet:470234 dynein axonemal heavy chain 10 oboInOwl:hasDbXref ENSEMBL:ENSG00000197653 semapv:UnspecifiedMatching Orphanet:470234 dynein axonemal heavy chain 10 oboInOwl:hasDbXref OMIM:605884 semapv:UnspecifiedMatching Orphanet:470234 dynein axonemal heavy chain 10 oboInOwl:hasDbXref uniprot:Q8IVF4 semapv:UnspecifiedMatching @@ -38286,6 +38001,9 @@ Orphanet:470274 elastin microfibril interfacer 1 oboInOwl:hasDbXref uniprot:Q9Y6 Orphanet:470286 erythropoietin oboInOwl:hasDbXref ENSEMBL:ENSG00000130427 semapv:UnspecifiedMatching Orphanet:470286 erythropoietin oboInOwl:hasDbXref OMIM:133170 semapv:UnspecifiedMatching Orphanet:470286 erythropoietin oboInOwl:hasDbXref uniprot:P01588 semapv:UnspecifiedMatching +Orphanet:470292 erbb2 interacting protein oboInOwl:hasDbXref ENSEMBL:ENSG00000112851 semapv:UnspecifiedMatching +Orphanet:470292 erbb2 interacting protein oboInOwl:hasDbXref OMIM:606944 semapv:UnspecifiedMatching +Orphanet:470292 erbb2 interacting protein oboInOwl:hasDbXref uniprot:Q96RT1 semapv:UnspecifiedMatching Orphanet:470322 F-box protein 28 oboInOwl:hasDbXref ENSEMBL:ENSG00000143756 semapv:UnspecifiedMatching Orphanet:470322 F-box protein 28 oboInOwl:hasDbXref OMIM:609100 semapv:UnspecifiedMatching Orphanet:470322 F-box protein 28 oboInOwl:hasDbXref uniprot:Q9NVF7 semapv:UnspecifiedMatching @@ -38331,6 +38049,7 @@ Orphanet:47045 Familial cold urticaria oboInOwl:hasDbXref ICD10:L50.2 semapv:Uns Orphanet:47045 Familial cold urticaria oboInOwl:hasDbXref MedDRA:10064570 semapv:UnspecifiedMatching Orphanet:47045 Familial cold urticaria oboInOwl:hasDbXref OMIM:120100 semapv:UnspecifiedMatching Orphanet:47045 Familial cold urticaria oboInOwl:hasDbXref UMLS:C0343068 semapv:UnspecifiedMatching +Orphanet:47045 Familial cold urticaria oboInOwl:hasDbXref icd11:4A60.1 semapv:UnspecifiedMatching Orphanet:470458 HIVEP zinc finger 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000010818 semapv:UnspecifiedMatching Orphanet:470458 HIVEP zinc finger 2 oboInOwl:hasDbXref OMIM:143054 semapv:UnspecifiedMatching Orphanet:470458 HIVEP zinc finger 2 oboInOwl:hasDbXref uniprot:P31629 semapv:UnspecifiedMatching @@ -38421,6 +38140,9 @@ Orphanet:470720 Myb like, SWIRM and MPN domains 1 oboInOwl:hasDbXref uniprot:Q5V Orphanet:470722 myelin transcription factor 1 like oboInOwl:hasDbXref ENSEMBL:ENSG00000186487 semapv:UnspecifiedMatching Orphanet:470722 myelin transcription factor 1 like oboInOwl:hasDbXref OMIM:613084 semapv:UnspecifiedMatching Orphanet:470722 myelin transcription factor 1 like oboInOwl:hasDbXref uniprot:Q9UL68 semapv:UnspecifiedMatching +Orphanet:470724 N-alpha-acetyltransferase 15, NatA auxiliary subunit oboInOwl:hasDbXref ENSEMBL:ENSG00000164134 semapv:UnspecifiedMatching +Orphanet:470724 N-alpha-acetyltransferase 15, NatA auxiliary subunit oboInOwl:hasDbXref OMIM:608000 semapv:UnspecifiedMatching +Orphanet:470724 N-alpha-acetyltransferase 15, NatA auxiliary subunit oboInOwl:hasDbXref uniprot:Q9BXJ9 semapv:UnspecifiedMatching Orphanet:470736 NADH:ubiquinone oxidoreductase subunit A6 oboInOwl:hasDbXref ENSEMBL:ENSG00000184983 semapv:UnspecifiedMatching Orphanet:470736 NADH:ubiquinone oxidoreductase subunit A6 oboInOwl:hasDbXref OMIM:602138 semapv:UnspecifiedMatching Orphanet:470736 NADH:ubiquinone oxidoreductase subunit A6 oboInOwl:hasDbXref uniprot:P56556 semapv:UnspecifiedMatching @@ -38442,6 +38164,9 @@ Orphanet:470800 netrin 1 oboInOwl:hasDbXref uniprot:O95631 semapv:UnspecifiedMat Orphanet:470810 obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF oboInOwl:hasDbXref ENSEMBL:ENSG00000154358 semapv:UnspecifiedMatching Orphanet:470810 obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF oboInOwl:hasDbXref OMIM:608616 semapv:UnspecifiedMatching Orphanet:470810 obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF oboInOwl:hasDbXref uniprot:Q5VST9 semapv:UnspecifiedMatching +Orphanet:470826 prolyl 4-hydroxylase, transmembrane oboInOwl:hasDbXref ENSEMBL:ENSG00000178467 semapv:UnspecifiedMatching +Orphanet:470826 prolyl 4-hydroxylase, transmembrane oboInOwl:hasDbXref OMIM:614584 semapv:UnspecifiedMatching +Orphanet:470826 prolyl 4-hydroxylase, transmembrane oboInOwl:hasDbXref uniprot:Q9NXG6 semapv:UnspecifiedMatching Orphanet:470828 phosphofurin acidic cluster sorting protein 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000179364 semapv:UnspecifiedMatching Orphanet:470828 phosphofurin acidic cluster sorting protein 2 oboInOwl:hasDbXref OMIM:610423 semapv:UnspecifiedMatching Orphanet:470828 phosphofurin acidic cluster sorting protein 2 oboInOwl:hasDbXref uniprot:Q86VP3 semapv:UnspecifiedMatching @@ -38475,6 +38200,9 @@ Orphanet:470980 capping protein regulator and myosin 1 linker 2 oboInOwl:hasDbXr Orphanet:470984 ring finger protein 170 oboInOwl:hasDbXref ENSEMBL:ENSG00000120925 semapv:UnspecifiedMatching Orphanet:470984 ring finger protein 170 oboInOwl:hasDbXref OMIM:614649 semapv:UnspecifiedMatching Orphanet:470984 ring finger protein 170 oboInOwl:hasDbXref uniprot:Q96K19 semapv:UnspecifiedMatching +Orphanet:470992 RAR related orphan receptor A oboInOwl:hasDbXref ENSEMBL:ENSG00000069667 semapv:UnspecifiedMatching +Orphanet:470992 RAR related orphan receptor A oboInOwl:hasDbXref OMIM:600825 semapv:UnspecifiedMatching +Orphanet:470992 RAR related orphan receptor A oboInOwl:hasDbXref uniprot:P35398 semapv:UnspecifiedMatching Orphanet:470996 RAR related orphan receptor C oboInOwl:hasDbXref ENSEMBL:ENSG00000143365 semapv:UnspecifiedMatching Orphanet:470996 RAR related orphan receptor C oboInOwl:hasDbXref OMIM:602943 semapv:UnspecifiedMatching Orphanet:470996 RAR related orphan receptor C oboInOwl:hasDbXref uniprot:P51449 semapv:UnspecifiedMatching @@ -38517,9 +38245,9 @@ Orphanet:471072 solute carrier family 1 member 2 oboInOwl:hasDbXref uniprot:P430 Orphanet:471076 solute carrier family 25 member 32 oboInOwl:hasDbXref ENSEMBL:ENSG00000164933 semapv:UnspecifiedMatching Orphanet:471076 solute carrier family 25 member 32 oboInOwl:hasDbXref OMIM:138480 semapv:UnspecifiedMatching Orphanet:471076 solute carrier family 25 member 32 oboInOwl:hasDbXref uniprot:Q9H2D1 semapv:UnspecifiedMatching -Orphanet:471078 solute carrier family 27 member 5 oboInOwl:hasDbXref ENSEMBL:ENSG00000083807 semapv:UnspecifiedMatching -Orphanet:471078 solute carrier family 27 member 5 oboInOwl:hasDbXref OMIM:603314 semapv:UnspecifiedMatching -Orphanet:471078 solute carrier family 27 member 5 oboInOwl:hasDbXref uniprot:Q9Y2P5 semapv:UnspecifiedMatching +Orphanet:471090 solute carrier family 4 member 10 oboInOwl:hasDbXref ENSEMBL:ENSG00000144290 semapv:UnspecifiedMatching +Orphanet:471090 solute carrier family 4 member 10 oboInOwl:hasDbXref OMIM:605556 semapv:UnspecifiedMatching +Orphanet:471090 solute carrier family 4 member 10 oboInOwl:hasDbXref uniprot:Q6U841 semapv:UnspecifiedMatching Orphanet:471096 solute carrier family 6 member 14 oboInOwl:hasDbXref ENSEMBL:ENSG00000268104 semapv:UnspecifiedMatching Orphanet:471096 solute carrier family 6 member 14 oboInOwl:hasDbXref OMIM:300444 semapv:UnspecifiedMatching Orphanet:471096 solute carrier family 6 member 14 oboInOwl:hasDbXref uniprot:Q9UN76 semapv:UnspecifiedMatching @@ -38577,6 +38305,9 @@ Orphanet:471232 transmembrane protein 107 oboInOwl:hasDbXref uniprot:Q6UX40 sema Orphanet:471234 transmembrane protein 199 oboInOwl:hasDbXref ENSEMBL:ENSG00000244045 semapv:UnspecifiedMatching Orphanet:471234 transmembrane protein 199 oboInOwl:hasDbXref OMIM:616815 semapv:UnspecifiedMatching Orphanet:471234 transmembrane protein 199 oboInOwl:hasDbXref uniprot:Q8N511 semapv:UnspecifiedMatching +Orphanet:471244 TNF receptor superfamily member 9 oboInOwl:hasDbXref ENSEMBL:ENSG00000049249 semapv:UnspecifiedMatching +Orphanet:471244 TNF receptor superfamily member 9 oboInOwl:hasDbXref OMIM:602250 semapv:UnspecifiedMatching +Orphanet:471244 TNF receptor superfamily member 9 oboInOwl:hasDbXref uniprot:Q07011 semapv:UnspecifiedMatching Orphanet:471250 tryptophan 2,3-dioxygenase oboInOwl:hasDbXref ENSEMBL:ENSG00000151790 semapv:UnspecifiedMatching Orphanet:471250 tryptophan 2,3-dioxygenase oboInOwl:hasDbXref OMIM:191070 semapv:UnspecifiedMatching Orphanet:471250 tryptophan 2,3-dioxygenase oboInOwl:hasDbXref uniprot:P48775 semapv:UnspecifiedMatching @@ -38668,9 +38399,6 @@ Orphanet:474429 podocalyxin like oboInOwl:hasDbXref uniprot:O00592 semapv:Unspec Orphanet:474467 G protein-coupled receptor 68 oboInOwl:hasDbXref ENSEMBL:ENSG00000119714 semapv:UnspecifiedMatching Orphanet:474467 G protein-coupled receptor 68 oboInOwl:hasDbXref OMIM:601404 semapv:UnspecifiedMatching Orphanet:474467 G protein-coupled receptor 68 oboInOwl:hasDbXref uniprot:Q15743 semapv:UnspecifiedMatching -Orphanet:474489 complement factor H related 4 oboInOwl:hasDbXref ENSEMBL:ENSG00000134365 semapv:UnspecifiedMatching -Orphanet:474489 complement factor H related 4 oboInOwl:hasDbXref OMIM:605337 semapv:UnspecifiedMatching -Orphanet:474489 complement factor H related 4 oboInOwl:hasDbXref uniprot:Q92496 semapv:UnspecifiedMatching Orphanet:475 Joubert syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:475 Joubert syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching Orphanet:475 Joubert syndrome oboInOwl:hasDbXref MedDRA:10078574 semapv:UnspecifiedMatching @@ -38725,11 +38453,6 @@ Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome oboInOwl:hasDbXref I Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome oboInOwl:hasDbXref OMIM:615821 semapv:UnspecifiedMatching Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome oboInOwl:hasDbXref UMLS:C5568136 semapv:UnspecifiedMatching -Orphanet:476102 Hereditary pediatric Behçet-like disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -Orphanet:476102 Hereditary pediatric Behçet-like disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -Orphanet:476102 Hereditary pediatric Behçet-like disease oboInOwl:hasDbXref OMIM:301074 semapv:UnspecifiedMatching -Orphanet:476102 Hereditary pediatric Behçet-like disease oboInOwl:hasDbXref OMIM:616744 semapv:UnspecifiedMatching -Orphanet:476102 Hereditary pediatric Behçet-like disease oboInOwl:hasDbXref UMLS:C5568804 semapv:UnspecifiedMatching Orphanet:476109 Axonal hereditary motor and sensory neuropathy oboInOwl:hasDbXref UMLS:C5680107 semapv:UnspecifiedMatching Orphanet:476113 Combined immunodeficiency due to TFRC deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:476113 Combined immunodeficiency due to TFRC deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching @@ -38859,14 +38582,15 @@ Orphanet:477742 Nodular fasciitis oboInOwl:hasDbXref ICD10:M79.8 semapv:Unspecif Orphanet:477742 Nodular fasciitis oboInOwl:hasDbXref ICD10:M79.8 semapv:UnspecifiedMatching Orphanet:477742 Nodular fasciitis oboInOwl:hasDbXref MedDRA:10065988 semapv:UnspecifiedMatching Orphanet:477742 Nodular fasciitis oboInOwl:hasDbXref UMLS:C0410005 semapv:UnspecifiedMatching +Orphanet:477742 Nodular fasciitis oboInOwl:hasDbXref icd11:FB51.2 semapv:UnspecifiedMatching Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy oboInOwl:hasDbXref ICD10:I67.8 semapv:UnspecifiedMatching Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy oboInOwl:hasDbXref OMIM:618564 semapv:UnspecifiedMatching Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy oboInOwl:hasDbXref UMLS:C5231411 semapv:UnspecifiedMatching Orphanet:477754 Genetic cerebral small vessel disease oboInOwl:hasDbXref UMLS:C5681259 semapv:UnspecifiedMatching Orphanet:477759 COL4A1 or COL4A2-related cerebral small vessel disease oboInOwl:hasDbXref UMLS:C5680103 semapv:UnspecifiedMatching -Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy oboInOwl:hasDbXref UMLS:C5680105 semapv:UnspecifiedMatching -Orphanet:477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy oboInOwl:hasDbXref UMLS:C5680104 semapv:UnspecifiedMatching +Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency oboInOwl:hasDbXref UMLS:C5680105 semapv:UnspecifiedMatching +Orphanet:477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency oboInOwl:hasDbXref UMLS:C5680104 semapv:UnspecifiedMatching Orphanet:477768 Moyamoya angiopathy oboInOwl:hasDbXref UMLS:C5681261 semapv:UnspecifiedMatching Orphanet:477771 Rare disorder with a moyamoya angiopathy oboInOwl:hasDbXref UMLS:C5681260 semapv:UnspecifiedMatching Orphanet:477774 Combined oxidative phosphorylation defect type 27 oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching @@ -38996,10 +38720,12 @@ Orphanet:480 Kearns-Sayre syndrome oboInOwl:hasDbXref icd11:9C82.0 semapv:Unspec Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 oboInOwl:hasDbXref OMIM:617049 semapv:UnspecifiedMatching +Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 oboInOwl:hasDbXref UMLS:C4310747 semapv:UnspecifiedMatching Orphanet:480476 Progressive familial intrahepatic cholestasis type 5 oboInOwl:hasDbXref icd11:5C58.03 semapv:UnspecifiedMatching Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 oboInOwl:hasDbXref OMIM:615878 semapv:UnspecifiedMatching +Orphanet:480483 Progressive familial intrahepatic cholestasis type 4 oboInOwl:hasDbXref UMLS:C2931067 semapv:UnspecifiedMatching Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:480491 MYO5B-related progressive familial intrahepatic cholestasis oboInOwl:hasDbXref OMIM:619868 semapv:UnspecifiedMatching @@ -39031,6 +38757,7 @@ Orphanet:480531 Congenital portosystemic shunt oboInOwl:hasDbXref icd11:DB98.Y s Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref OMIM:617100 semapv:UnspecifiedMatching +Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref UMLS:C4310719 semapv:UnspecifiedMatching Orphanet:480536 MSH3-related attenuated familial adenomatous polyposis oboInOwl:hasDbXref icd11:2B90.Y semapv:UnspecifiedMatching Orphanet:480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching Orphanet:480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement oboInOwl:hasDbXref ICD10:C85.7 semapv:UnspecifiedMatching @@ -39039,6 +38766,7 @@ Orphanet:480549 Non-severe combined immunodeficiency oboInOwl:hasDbXref UMLS:C56 Orphanet:480553 Aneurysmal bone cyst oboInOwl:hasDbXref ICD10:M85.5 semapv:UnspecifiedMatching Orphanet:480553 Aneurysmal bone cyst oboInOwl:hasDbXref ICD10:M85.5 semapv:UnspecifiedMatching Orphanet:480553 Aneurysmal bone cyst oboInOwl:hasDbXref MESH:D017824 semapv:UnspecifiedMatching +Orphanet:480553 Aneurysmal bone cyst oboInOwl:hasDbXref MedDRA:10002362 semapv:UnspecifiedMatching Orphanet:480553 Aneurysmal bone cyst oboInOwl:hasDbXref UMLS:C0152244 semapv:UnspecifiedMatching Orphanet:480553 Aneurysmal bone cyst oboInOwl:hasDbXref icd11:FB80.6 semapv:UnspecifiedMatching Orphanet:480553 Aneurysmal bone cyst oboInOwl:hasDbXref icd11:XH23E0 semapv:UnspecifiedMatching @@ -39129,6 +38857,8 @@ Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy oboIn Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy oboInOwl:hasDbXref OMIM:617030 semapv:UnspecifiedMatching Orphanet:482601 Adenylosuccinate synthetase-like 1-related distal myopathy oboInOwl:hasDbXref UMLS:C5567521 semapv:UnspecifiedMatching +Orphanet:482606 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:482606 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:482606 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome oboInOwl:hasDbXref UMLS:C5567520 semapv:UnspecifiedMatching Orphanet:483 Congenital high-molecular-weight kininogen deficiency oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching Orphanet:483 Congenital high-molecular-weight kininogen deficiency oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching @@ -39214,7 +38944,6 @@ Orphanet:484692 acid phosphatase 4 oboInOwl:hasDbXref uniprot:Q9BZG2 semapv:Unsp Orphanet:48471 Lissencephaly oboInOwl:hasDbXref MESH:D054082 semapv:UnspecifiedMatching Orphanet:48471 Lissencephaly oboInOwl:hasDbXref MedDRA:10048911 semapv:UnspecifiedMatching Orphanet:48471 Lissencephaly oboInOwl:hasDbXref UMLS:C0266463 semapv:UnspecifiedMatching -Orphanet:48471 Lissencephaly oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:484733 receptor accessory protein 6 oboInOwl:hasDbXref ENSEMBL:ENSG00000115255 semapv:UnspecifiedMatching Orphanet:484733 receptor accessory protein 6 oboInOwl:hasDbXref OMIM:609346 semapv:UnspecifiedMatching Orphanet:484733 receptor accessory protein 6 oboInOwl:hasDbXref uniprot:Q96HR9 semapv:UnspecifiedMatching @@ -39244,7 +38973,7 @@ Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome oboInOwl Orphanet:485358 Propylthiouracil embryofetopathy oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching Orphanet:485358 Propylthiouracil embryofetopathy oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching Orphanet:485358 Propylthiouracil embryofetopathy oboInOwl:hasDbXref UMLS:C5567519 semapv:UnspecifiedMatching -Orphanet:485382 Genetic premature ovarian failure oboInOwl:hasDbXref UMLS:C5681245 semapv:UnspecifiedMatching +Orphanet:485382 Rare genetic premature ovarian failure oboInOwl:hasDbXref UMLS:C5681245 semapv:UnspecifiedMatching Orphanet:485405 16p12.1p12.3 triplication syndrome oboInOwl:hasDbXref ICD10:Q93.7 semapv:UnspecifiedMatching Orphanet:485405 16p12.1p12.3 triplication syndrome oboInOwl:hasDbXref ICD10:Q93.7 semapv:UnspecifiedMatching Orphanet:485405 16p12.1p12.3 triplication syndrome oboInOwl:hasDbXref UMLS:C5680097 semapv:UnspecifiedMatching @@ -39254,9 +38983,11 @@ Orphanet:485418 EMILIN-1-related connective tissue disease oboInOwl:hasDbXref UM Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref OMIM:617086 semapv:UnspecifiedMatching +Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref UMLS:C4310726 semapv:UnspecifiedMatching Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect oboInOwl:hasDbXref icd11:5C5Y semapv:UnspecifiedMatching Orphanet:485426 Isolated congenital hepatic fibrosis oboInOwl:hasDbXref ICD10:Q44.6 semapv:UnspecifiedMatching Orphanet:485426 Isolated congenital hepatic fibrosis oboInOwl:hasDbXref ICD10:Q44.6 semapv:UnspecifiedMatching +Orphanet:485426 Isolated congenital hepatic fibrosis oboInOwl:hasDbXref MESH:C562378 semapv:UnspecifiedMatching Orphanet:485426 Isolated congenital hepatic fibrosis oboInOwl:hasDbXref UMLS:C5680096 semapv:UnspecifiedMatching Orphanet:485510 pyridoxal phosphate binding protein oboInOwl:hasDbXref ENSEMBL:ENSG00000147471 semapv:UnspecifiedMatching Orphanet:485510 pyridoxal phosphate binding protein oboInOwl:hasDbXref OMIM:604436 semapv:UnspecifiedMatching @@ -39291,17 +39022,16 @@ Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref OMIM:202700 semapv:UnspecifiedMatching Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref OMIM:257100 semapv:UnspecifiedMatching Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref OMIM:613107 semapv:UnspecifiedMatching -Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref OMIM:618752 semapv:UnspecifiedMatching Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref OMIM:619813 semapv:UnspecifiedMatching Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref UMLS:C4749612 semapv:UnspecifiedMatching Orphanet:486 Autosomal dominant severe congenital neutropenia oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching -Orphanet:48652 Monosomy 22q13.3 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -Orphanet:48652 Monosomy 22q13.3 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching -Orphanet:48652 Monosomy 22q13.3 oboInOwl:hasDbXref MESH:C536801 semapv:UnspecifiedMatching -Orphanet:48652 Monosomy 22q13.3 oboInOwl:hasDbXref MedDRA:10082417 semapv:UnspecifiedMatching -Orphanet:48652 Monosomy 22q13.3 oboInOwl:hasDbXref OMIM:606232 semapv:UnspecifiedMatching -Orphanet:48652 Monosomy 22q13.3 oboInOwl:hasDbXref UMLS:C1853490 semapv:UnspecifiedMatching -Orphanet:48652 Monosomy 22q13.3 oboInOwl:hasDbXref icd11:LD44.NY semapv:UnspecifiedMatching +Orphanet:48652 Phelan-McDermid syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:48652 Phelan-McDermid syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:48652 Phelan-McDermid syndrome oboInOwl:hasDbXref MESH:C536801 semapv:UnspecifiedMatching +Orphanet:48652 Phelan-McDermid syndrome oboInOwl:hasDbXref MedDRA:10082417 semapv:UnspecifiedMatching +Orphanet:48652 Phelan-McDermid syndrome oboInOwl:hasDbXref OMIM:606232 semapv:UnspecifiedMatching +Orphanet:48652 Phelan-McDermid syndrome oboInOwl:hasDbXref UMLS:C1853490 semapv:UnspecifiedMatching +Orphanet:48652 Phelan-McDermid syndrome oboInOwl:hasDbXref icd11:LD44.NY semapv:UnspecifiedMatching Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures oboInOwl:hasDbXref ICD10:G12.8 semapv:UnspecifiedMatching Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures oboInOwl:hasDbXref ICD10:G12.8 semapv:UnspecifiedMatching Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures oboInOwl:hasDbXref OMIM:616866 semapv:UnspecifiedMatching @@ -39320,9 +39050,9 @@ Orphanet:48686 Primary effusion lymphoma oboInOwl:hasDbXref MESH:D054685 semapv: Orphanet:48686 Primary effusion lymphoma oboInOwl:hasDbXref MedDRA:10065857 semapv:UnspecifiedMatching Orphanet:48686 Primary effusion lymphoma oboInOwl:hasDbXref UMLS:C1292753 semapv:UnspecifiedMatching Orphanet:48686 Primary effusion lymphoma oboInOwl:hasDbXref icd11:2A81.9 semapv:UnspecifiedMatching -Orphanet:486881 chromosome 12 open reading frame 4 oboInOwl:hasDbXref ENSEMBL:ENSG00000047621 semapv:UnspecifiedMatching -Orphanet:486881 chromosome 12 open reading frame 4 oboInOwl:hasDbXref OMIM:616082 semapv:UnspecifiedMatching -Orphanet:486881 chromosome 12 open reading frame 4 oboInOwl:hasDbXref uniprot:Q9NQ89 semapv:UnspecifiedMatching +Orphanet:486881 FERRY endosomal RAB5 effector complex subunit 3 oboInOwl:hasDbXref ENSEMBL:ENSG00000047621 semapv:UnspecifiedMatching +Orphanet:486881 FERRY endosomal RAB5 effector complex subunit 3 oboInOwl:hasDbXref OMIM:616082 semapv:UnspecifiedMatching +Orphanet:486881 FERRY endosomal RAB5 effector complex subunit 3 oboInOwl:hasDbXref uniprot:Q9NQ89 semapv:UnspecifiedMatching Orphanet:486883 alpha 2-HS glycoprotein oboInOwl:hasDbXref ENSEMBL:ENSG00000145192 semapv:UnspecifiedMatching Orphanet:486883 alpha 2-HS glycoprotein oboInOwl:hasDbXref OMIM:138680 semapv:UnspecifiedMatching Orphanet:486883 alpha 2-HS glycoprotein oboInOwl:hasDbXref uniprot:P02765 semapv:UnspecifiedMatching @@ -39361,10 +39091,11 @@ Orphanet:487248 pyrroline-5-carboxylate reductase 2 oboInOwl:hasDbXref OMIM:6164 Orphanet:487248 pyrroline-5-carboxylate reductase 2 oboInOwl:hasDbXref uniprot:Q96C36 semapv:UnspecifiedMatching Orphanet:48736 Embryonal carcinoma of the central nervous system oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching Orphanet:48736 Embryonal carcinoma of the central nervous system oboInOwl:hasDbXref ICD10:C71.9 semapv:UnspecifiedMatching -Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome oboInOwl:hasDbXref OMIM:616737 semapv:UnspecifiedMatching -Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome oboInOwl:hasDbXref UMLS:C4225222 semapv:UnspecifiedMatching +Orphanet:48736 Embryonal carcinoma of the central nervous system oboInOwl:hasDbXref UMLS:C1333377 semapv:UnspecifiedMatching +Orphanet:487796 Takenouchi-Kosaki syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:487796 Takenouchi-Kosaki syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:487796 Takenouchi-Kosaki syndrome oboInOwl:hasDbXref OMIM:616737 semapv:UnspecifiedMatching +Orphanet:487796 Takenouchi-Kosaki syndrome oboInOwl:hasDbXref UMLS:C4225222 semapv:UnspecifiedMatching Orphanet:487809 Pediatric collagenous gastritis oboInOwl:hasDbXref ICD10:K29.6 semapv:UnspecifiedMatching Orphanet:487809 Pediatric collagenous gastritis oboInOwl:hasDbXref ICD10:K29.6 semapv:UnspecifiedMatching Orphanet:487809 Pediatric collagenous gastritis oboInOwl:hasDbXref UMLS:C5680109 semapv:UnspecifiedMatching @@ -39408,16 +39139,6 @@ Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome oboInOwl:hasDbXref OMIM:616722 semapv:UnspecifiedMatching Orphanet:488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome oboInOwl:hasDbXref UMLS:C5567488 semapv:UnspecifiedMatching -Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.0 semapv:UnspecifiedMatching -Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.0 semapv:UnspecifiedMatching -Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching -Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching -Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching -Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching -Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching -Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.3 semapv:UnspecifiedMatching -Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching -Orphanet:488201 NON RARE IN EUROPE: Non-small cell lung cancer oboInOwl:hasDbXref ICD10:C34.8 semapv:UnspecifiedMatching Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:488232 Split-foot malformation-mesoaxial polydactyly syndrome oboInOwl:hasDbXref OMIM:616890 semapv:UnspecifiedMatching @@ -39429,6 +39150,7 @@ Orphanet:488239 Acute macular neuroretinopathy oboInOwl:hasDbXref UMLS:C5200735 Orphanet:488239 Acute macular neuroretinopathy oboInOwl:hasDbXref icd11:9B65.0 semapv:UnspecifiedMatching Orphanet:488265 Osteofibrous dysplasia oboInOwl:hasDbXref ICD10:M85.0 semapv:UnspecifiedMatching Orphanet:488265 Osteofibrous dysplasia oboInOwl:hasDbXref ICD10:M85.0 semapv:UnspecifiedMatching +Orphanet:488265 Osteofibrous dysplasia oboInOwl:hasDbXref MESH:C563276 semapv:UnspecifiedMatching Orphanet:488265 Osteofibrous dysplasia oboInOwl:hasDbXref OMIM:607278 semapv:UnspecifiedMatching Orphanet:488265 Osteofibrous dysplasia oboInOwl:hasDbXref UMLS:C4085248 semapv:UnspecifiedMatching Orphanet:488280 14q32 duplication syndrome oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching @@ -39491,10 +39213,9 @@ Orphanet:488650 Distal myopathy, Tateyama type oboInOwl:hasDbXref ICD10:G71.0 se Orphanet:488650 Distal myopathy, Tateyama type oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:488650 Distal myopathy, Tateyama type oboInOwl:hasDbXref OMIM:614321 semapv:UnspecifiedMatching Orphanet:488650 Distal myopathy, Tateyama type oboInOwl:hasDbXref UMLS:C3280443 semapv:UnspecifiedMatching -Orphanet:489 NON RARE IN EUROPE: Thyroglossal duct cyst oboInOwl:hasDbXref ICD10:Q89.2 semapv:UnspecifiedMatching -Orphanet:489 NON RARE IN EUROPE: Thyroglossal duct cyst oboInOwl:hasDbXref ICD10:Q89.2 semapv:UnspecifiedMatching Orphanet:48918 Focal myositis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching Orphanet:48918 Focal myositis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching +Orphanet:48918 Focal myositis oboInOwl:hasDbXref MedDRA:10081943 semapv:UnspecifiedMatching Orphanet:48918 Focal myositis oboInOwl:hasDbXref UMLS:C0751357 semapv:UnspecifiedMatching Orphanet:48918 Focal myositis oboInOwl:hasDbXref icd11:4A41.Y semapv:UnspecifiedMatching Orphanet:489883 potassium calcium-activated channel subfamily N member 3 oboInOwl:hasDbXref ENSEMBL:ENSG00000143603 semapv:UnspecifiedMatching @@ -39637,9 +39358,9 @@ Orphanet:492464 solute carrier family 44 member 4 oboInOwl:hasDbXref uniprot:Q53 Orphanet:492474 DAZ interacting zinc finger protein 1 like oboInOwl:hasDbXref ENSEMBL:ENSG00000158163 semapv:UnspecifiedMatching Orphanet:492474 DAZ interacting zinc finger protein 1 like oboInOwl:hasDbXref OMIM:617570 semapv:UnspecifiedMatching Orphanet:492474 DAZ interacting zinc finger protein 1 like oboInOwl:hasDbXref uniprot:Q8IYY4 semapv:UnspecifiedMatching -Orphanet:492482 EPS8 like 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000177106 semapv:UnspecifiedMatching -Orphanet:492482 EPS8 like 2 oboInOwl:hasDbXref OMIM:614988 semapv:UnspecifiedMatching -Orphanet:492482 EPS8 like 2 oboInOwl:hasDbXref uniprot:Q9H6S3 semapv:UnspecifiedMatching +Orphanet:492482 EPS8 signaling adaptor L2 oboInOwl:hasDbXref ENSEMBL:ENSG00000177106 semapv:UnspecifiedMatching +Orphanet:492482 EPS8 signaling adaptor L2 oboInOwl:hasDbXref OMIM:614988 semapv:UnspecifiedMatching +Orphanet:492482 EPS8 signaling adaptor L2 oboInOwl:hasDbXref uniprot:Q9H6S3 semapv:UnspecifiedMatching Orphanet:492557 intraflagellar transport 88 oboInOwl:hasDbXref ENSEMBL:ENSG00000032742 semapv:UnspecifiedMatching Orphanet:492557 intraflagellar transport 88 oboInOwl:hasDbXref OMIM:600595 semapv:UnspecifiedMatching Orphanet:492557 intraflagellar transport 88 oboInOwl:hasDbXref uniprot:Q13099 semapv:UnspecifiedMatching @@ -39656,6 +39377,7 @@ Orphanet:493 Familial keratoacanthoma oboInOwl:hasDbXref icd11:2C31.1 semapv:Uns Orphanet:493342 Vibratory urticaria oboInOwl:hasDbXref ICD10:L50.4 semapv:UnspecifiedMatching Orphanet:493342 Vibratory urticaria oboInOwl:hasDbXref ICD10:L50.4 semapv:UnspecifiedMatching Orphanet:493342 Vibratory urticaria oboInOwl:hasDbXref MESH:D000094482 semapv:UnspecifiedMatching +Orphanet:493342 Vibratory urticaria oboInOwl:hasDbXref MedDRA:10052571 semapv:UnspecifiedMatching Orphanet:493342 Vibratory urticaria oboInOwl:hasDbXref OMIM:125630 semapv:UnspecifiedMatching Orphanet:493342 Vibratory urticaria oboInOwl:hasDbXref UMLS:C0157743 semapv:UnspecifiedMatching Orphanet:493342 Vibratory urticaria oboInOwl:hasDbXref icd11:EB01.Y semapv:UnspecifiedMatching @@ -39759,8 +39481,6 @@ Orphanet:494344 RERE-related neurodevelopmental syndrome oboInOwl:hasDbXref ICD1 Orphanet:494344 RERE-related neurodevelopmental syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:494344 RERE-related neurodevelopmental syndrome oboInOwl:hasDbXref OMIM:616975 semapv:UnspecifiedMatching Orphanet:494344 RERE-related neurodevelopmental syndrome oboInOwl:hasDbXref UMLS:C5567477 semapv:UnspecifiedMatching -Orphanet:494348 Early-onset familial noncirrhotic portal hypertension oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching -Orphanet:494348 Early-onset familial noncirrhotic portal hypertension oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:494348 Early-onset familial noncirrhotic portal hypertension oboInOwl:hasDbXref OMIM:617068 semapv:UnspecifiedMatching Orphanet:494418 Vulvar carcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching Orphanet:494418 Vulvar carcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching @@ -39792,10 +39512,12 @@ Orphanet:494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndr Orphanet:494448 Vulvar squamous cell carcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching Orphanet:494448 Vulvar squamous cell carcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching Orphanet:494448 Vulvar squamous cell carcinoma oboInOwl:hasDbXref MedDRA:10041875 semapv:UnspecifiedMatching +Orphanet:494448 Vulvar squamous cell carcinoma oboInOwl:hasDbXref UMLS:C0280856 semapv:UnspecifiedMatching Orphanet:494448 Vulvar squamous cell carcinoma oboInOwl:hasDbXref icd11:2C70.2 semapv:UnspecifiedMatching Orphanet:494451 Vulvar basal cell carcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching Orphanet:494451 Vulvar basal cell carcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching Orphanet:494451 Vulvar basal cell carcinoma oboInOwl:hasDbXref MedDRA:10082639 semapv:UnspecifiedMatching +Orphanet:494451 Vulvar basal cell carcinoma oboInOwl:hasDbXref UMLS:C1336977 semapv:UnspecifiedMatching Orphanet:494451 Vulvar basal cell carcinoma oboInOwl:hasDbXref icd11:2C70.0 semapv:UnspecifiedMatching Orphanet:494454 Vulvar adenocarcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching Orphanet:494454 Vulvar adenocarcinoma oboInOwl:hasDbXref ICD10:C51.8 semapv:UnspecifiedMatching @@ -39833,6 +39555,9 @@ Orphanet:494881 cyclin dependent kinase 13 oboInOwl:hasDbXref uniprot:Q14004 sem Orphanet:494894 G protein subunit beta 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000078369 semapv:UnspecifiedMatching Orphanet:494894 G protein subunit beta 1 oboInOwl:hasDbXref OMIM:139380 semapv:UnspecifiedMatching Orphanet:494894 G protein subunit beta 1 oboInOwl:hasDbXref uniprot:P62873 semapv:UnspecifiedMatching +Orphanet:494899 EBF transcription factor 3 oboInOwl:hasDbXref ENSEMBL:ENSG00000108001 semapv:UnspecifiedMatching +Orphanet:494899 EBF transcription factor 3 oboInOwl:hasDbXref OMIM:607407 semapv:UnspecifiedMatching +Orphanet:494899 EBF transcription factor 3 oboInOwl:hasDbXref uniprot:Q9H4W6 semapv:UnspecifiedMatching Orphanet:494915 glutamine rich 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000198218 semapv:UnspecifiedMatching Orphanet:494915 glutamine rich 1 oboInOwl:hasDbXref OMIM:617387 semapv:UnspecifiedMatching Orphanet:494915 glutamine rich 1 oboInOwl:hasDbXref uniprot:Q2TAL8 semapv:UnspecifiedMatching @@ -39903,15 +39628,12 @@ Orphanet:495930 Familial monosomy 7 syndrome oboInOwl:hasDbXref ICD10:D46.7 sema Orphanet:495930 Familial monosomy 7 syndrome oboInOwl:hasDbXref OMIM:252270 semapv:UnspecifiedMatching Orphanet:495930 Familial monosomy 7 syndrome oboInOwl:hasDbXref OMIM:619041 semapv:UnspecifiedMatching Orphanet:495930 Familial monosomy 7 syndrome oboInOwl:hasDbXref UMLS:C5681220 semapv:UnspecifiedMatching -Orphanet:496 Thost-Unna palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -Orphanet:496 Thost-Unna palmoplantar keratoderma oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -Orphanet:496 Thost-Unna palmoplantar keratoderma oboInOwl:hasDbXref OMIM:600962 semapv:UnspecifiedMatching Orphanet:496171 ferric chelate reductase 1 like oboInOwl:hasDbXref ENSEMBL:ENSG00000260230 semapv:UnspecifiedMatching Orphanet:496171 ferric chelate reductase 1 like oboInOwl:hasDbXref OMIM:604574 semapv:UnspecifiedMatching Orphanet:496171 ferric chelate reductase 1 like oboInOwl:hasDbXref uniprot:Q9P0K9 semapv:UnspecifiedMatching -Orphanet:496177 phosphatidylinositol glycan anchor biosynthesis class G oboInOwl:hasDbXref ENSEMBL:ENSG00000174227 semapv:UnspecifiedMatching -Orphanet:496177 phosphatidylinositol glycan anchor biosynthesis class G oboInOwl:hasDbXref OMIM:616918 semapv:UnspecifiedMatching -Orphanet:496177 phosphatidylinositol glycan anchor biosynthesis class G oboInOwl:hasDbXref uniprot:Q5H8A4 semapv:UnspecifiedMatching +Orphanet:496177 phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) oboInOwl:hasDbXref ENSEMBL:ENSG00000174227 semapv:UnspecifiedMatching +Orphanet:496177 phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) oboInOwl:hasDbXref OMIM:616918 semapv:UnspecifiedMatching +Orphanet:496177 phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) oboInOwl:hasDbXref uniprot:Q5H8A4 semapv:UnspecifiedMatching Orphanet:496461 SIX homeobox 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000170577 semapv:UnspecifiedMatching Orphanet:496461 SIX homeobox 2 oboInOwl:hasDbXref OMIM:604994 semapv:UnspecifiedMatching Orphanet:496461 SIX homeobox 2 oboInOwl:hasDbXref uniprot:Q9NPC8 semapv:UnspecifiedMatching @@ -40003,6 +39725,7 @@ Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome oboInOwl:has Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome oboInOwl:hasDbXref OMIM:617054 semapv:UnspecifiedMatching Orphanet:497906 Childhood-onset basal ganglia degeneration syndrome oboInOwl:hasDbXref UMLS:C4310743 semapv:UnspecifiedMatching +Orphanet:498 Keratosis pilaris atrophicans oboInOwl:hasDbXref MedDRA:10083835 semapv:UnspecifiedMatching Orphanet:498 Keratosis pilaris atrophicans oboInOwl:hasDbXref icd11:ED56 semapv:UnspecifiedMatching Orphanet:49804 Lichen amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching Orphanet:49804 Lichen amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching @@ -40040,8 +39763,8 @@ Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy oboInOw Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement oboInOwl:hasDbXref UMLS:C5681234 semapv:UnspecifiedMatching Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations oboInOwl:hasDbXref UMLS:C5681233 semapv:UnspecifiedMatching Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations oboInOwl:hasDbXref UMLS:C5681833 semapv:UnspecifiedMatching -Orphanet:498457 Longitudinal limb defect oboInOwl:hasDbXref UMLS:C5681232 semapv:UnspecifiedMatching -Orphanet:498461 Terminal transverse limb defect oboInOwl:hasDbXref UMLS:C5681231 semapv:UnspecifiedMatching +Orphanet:498457 Non-syndromic longitudinal limb defect oboInOwl:hasDbXref UMLS:C5681232 semapv:UnspecifiedMatching +Orphanet:498461 Non-syndromic terminal transverse limb defect oboInOwl:hasDbXref UMLS:C5681231 semapv:UnspecifiedMatching Orphanet:498464 Non-syndromic preaxial polydactyly oboInOwl:hasDbXref UMLS:C5681229 semapv:UnspecifiedMatching Orphanet:498467 Non-syndromic postaxial polydactyly oboInOwl:hasDbXref UMLS:C5681228 semapv:UnspecifiedMatching Orphanet:498470 Non-syndromic complex polydactyly oboInOwl:hasDbXref UMLS:C5681241 semapv:UnspecifiedMatching @@ -40062,7 +39785,7 @@ Orphanet:498488 Overgrowth syndrome with 2q37 translocation oboInOwl:hasDbXref I Orphanet:498488 Overgrowth syndrome with 2q37 translocation oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:498488 Overgrowth syndrome with 2q37 translocation oboInOwl:hasDbXref UMLS:C5567236 semapv:UnspecifiedMatching Orphanet:498488 Overgrowth syndrome with 2q37 translocation oboInOwl:hasDbXref icd11:LD2C semapv:UnspecifiedMatching -Orphanet:498491 Complete hemimelia oboInOwl:hasDbXref UMLS:C5681243 semapv:UnspecifiedMatching +Orphanet:498491 Non-syndromic complete hemimelia oboInOwl:hasDbXref UMLS:C5681243 semapv:UnspecifiedMatching Orphanet:498494 Mirror-image polydactyly oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:498494 Mirror-image polydactyly oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:498497 Short rib-polydactyly syndrome type 5 oboInOwl:hasDbXref ICD10:Q77.2 semapv:UnspecifiedMatching @@ -40108,9 +39831,9 @@ Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref MedDRA:10010641 semapv:Un Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref UMLS:C0039131 semapv:UnspecifiedMatching Orphanet:499009 Congenital syphilis oboInOwl:hasDbXref icd11:1A60 semapv:UnspecifiedMatching Orphanet:499047 Autoimmune/inflammatory optic neuropathy oboInOwl:hasDbXref UMLS:C5681239 semapv:UnspecifiedMatching -Orphanet:499085 Chronic relapsing inflammatory optic neuropathy oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching -Orphanet:499085 Chronic relapsing inflammatory optic neuropathy oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching -Orphanet:499085 Chronic relapsing inflammatory optic neuropathy oboInOwl:hasDbXref UMLS:C5567234 semapv:UnspecifiedMatching +Orphanet:499085 Chronic relapsing inflammatory optic neuritis oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching +Orphanet:499085 Chronic relapsing inflammatory optic neuritis oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching +Orphanet:499085 Chronic relapsing inflammatory optic neuritis oboInOwl:hasDbXref UMLS:C5567234 semapv:UnspecifiedMatching Orphanet:499096 Isolated optic neuritis oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching Orphanet:499096 Isolated optic neuritis oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching Orphanet:499096 Isolated optic neuritis oboInOwl:hasDbXref MedDRA:10030942 semapv:UnspecifiedMatching @@ -40187,10 +39910,10 @@ Orphanet:500163 Witteveen-Kolk syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:Un Orphanet:500163 Witteveen-Kolk syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:500163 Witteveen-Kolk syndrome oboInOwl:hasDbXref OMIM:613406 semapv:UnspecifiedMatching Orphanet:500163 Witteveen-Kolk syndrome oboInOwl:hasDbXref UMLS:C4310804 semapv:UnspecifiedMatching -Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation oboInOwl:hasDbXref OMIM:613406 semapv:UnspecifiedMatching -Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation oboInOwl:hasDbXref UMLS:C5681223 semapv:UnspecifiedMatching +Orphanet:500166 SIN3-related intellectual disability syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:500166 SIN3-related intellectual disability syndrome due to a point mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:500166 SIN3-related intellectual disability syndrome due to a point mutation oboInOwl:hasDbXref OMIM:613406 semapv:UnspecifiedMatching +Orphanet:500166 SIN3-related intellectual disability syndrome due to a point mutation oboInOwl:hasDbXref UMLS:C5681223 semapv:UnspecifiedMatching Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder oboInOwl:hasDbXref OMIM:617672 semapv:UnspecifiedMatching @@ -40228,6 +39951,7 @@ Orphanet:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref IC Orphanet:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref ICD10:C08.8 semapv:UnspecifiedMatching Orphanet:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref ICD10:C08.8 semapv:UnspecifiedMatching Orphanet:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching +Orphanet:500481 Squamous cell carcinoma of salivary glands oboInOwl:hasDbXref UMLS:C0279697 semapv:UnspecifiedMatching Orphanet:500484 NUS1 dehydrodolichyl diphosphate synthase subunit oboInOwl:hasDbXref ENSEMBL:ENSG00000153989 semapv:UnspecifiedMatching Orphanet:500484 NUS1 dehydrodolichyl diphosphate synthase subunit oboInOwl:hasDbXref OMIM:610463 semapv:UnspecifiedMatching Orphanet:500484 NUS1 dehydrodolichyl diphosphate synthase subunit oboInOwl:hasDbXref uniprot:Q96E22 semapv:UnspecifiedMatching @@ -40298,9 +40022,11 @@ Orphanet:502363 Squamous cell carcinoma of the oral cavity oboInOwl:hasDbXref OM Orphanet:502363 Squamous cell carcinoma of the oral cavity oboInOwl:hasDbXref UMLS:C0585362 semapv:UnspecifiedMatching Orphanet:502366 Squamous cell carcinoma of the lip oboInOwl:hasDbXref ICD10:C00.1 semapv:UnspecifiedMatching Orphanet:502366 Squamous cell carcinoma of the lip oboInOwl:hasDbXref ICD10:C00.1 semapv:UnspecifiedMatching +Orphanet:502366 Squamous cell carcinoma of the lip oboInOwl:hasDbXref MedDRA:10064055 semapv:UnspecifiedMatching Orphanet:502366 Squamous cell carcinoma of the lip oboInOwl:hasDbXref OMIM:275355 semapv:UnspecifiedMatching Orphanet:502366 Squamous cell carcinoma of the lip oboInOwl:hasDbXref UMLS:C0280302 semapv:UnspecifiedMatching Orphanet:502366 Squamous cell carcinoma of the lip oboInOwl:hasDbXref icd11:2B60.1 semapv:UnspecifiedMatching +Orphanet:502369 Squamous cell carcinoma of oral cavity and lip oboInOwl:hasDbXref UMLS:C0280297 semapv:UnspecifiedMatching Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome oboInOwl:hasDbXref OMIM:617675 semapv:UnspecifiedMatching @@ -40357,6 +40083,7 @@ Orphanet:504 Creeping myiasis oboInOwl:hasDbXref UMLS:C1562462 semapv:Unspecifie Orphanet:504 Creeping myiasis oboInOwl:hasDbXref icd11:1G01.3 semapv:UnspecifiedMatching Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome oboInOwl:hasDbXref MESH:C000726747 semapv:UnspecifiedMatching Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome oboInOwl:hasDbXref MedDRA:10078216 semapv:UnspecifiedMatching Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome oboInOwl:hasDbXref OMIM:614575 semapv:UnspecifiedMatching Orphanet:504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome oboInOwl:hasDbXref UMLS:C3281223 semapv:UnspecifiedMatching @@ -40434,12 +40161,16 @@ Orphanet:505652 CDKL5-deficiency disorder oboInOwl:hasDbXref UMLS:C4750718 semap Orphanet:505829 phospholipase C beta 3 oboInOwl:hasDbXref ENSEMBL:ENSG00000149782 semapv:UnspecifiedMatching Orphanet:505829 phospholipase C beta 3 oboInOwl:hasDbXref OMIM:600230 semapv:UnspecifiedMatching Orphanet:505829 phospholipase C beta 3 oboInOwl:hasDbXref uniprot:Q01970 semapv:UnspecifiedMatching +Orphanet:506 Leigh syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:506 Leigh syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:506 Leigh syndrome oboInOwl:hasDbXref MESH:D007888 semapv:UnspecifiedMatching Orphanet:506 Leigh syndrome oboInOwl:hasDbXref MedDRA:10062950 semapv:UnspecifiedMatching Orphanet:506 Leigh syndrome oboInOwl:hasDbXref OMIM:256000 semapv:UnspecifiedMatching Orphanet:506 Leigh syndrome oboInOwl:hasDbXref UMLS:C0023264 semapv:UnspecifiedMatching Orphanet:506 Leigh syndrome oboInOwl:hasDbXref icd11:5C53.24 semapv:UnspecifiedMatching +Orphanet:506052 Neuroendocrine neoplasm of pancreas oboInOwl:hasDbXref UMLS:C4305467 semapv:UnspecifiedMatching Orphanet:506052 Neuroendocrine neoplasm of pancreas oboInOwl:hasDbXref icd11:2C10.1 semapv:UnspecifiedMatching +Orphanet:506060 Functioning neuroendocrine tumor of pancreas oboInOwl:hasDbXref UMLS:C1708107 semapv:UnspecifiedMatching Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching Orphanet:506075 Non-functioning neuroendocrine tumor of pancreas oboInOwl:hasDbXref MESH:C536126 semapv:UnspecifiedMatching @@ -40456,6 +40187,7 @@ Orphanet:506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas Orphanet:506136 Neuroendocrine neoplasm of esophagus oboInOwl:hasDbXref ICD10:C15.8 semapv:UnspecifiedMatching Orphanet:506136 Neuroendocrine neoplasm of esophagus oboInOwl:hasDbXref ICD10:C15.8 semapv:UnspecifiedMatching Orphanet:506136 Neuroendocrine neoplasm of esophagus oboInOwl:hasDbXref UMLS:C1333462 semapv:UnspecifiedMatching +Orphanet:506136 Neuroendocrine neoplasm of esophagus oboInOwl:hasDbXref icd11:2B70.Y semapv:UnspecifiedMatching Orphanet:506207 Rare disorder potentially indicated for transplant oboInOwl:hasDbXref UMLS:C5681217 semapv:UnspecifiedMatching Orphanet:506210 Rare disorder potentially indicated for liver transplant oboInOwl:hasDbXref UMLS:C5681218 semapv:UnspecifiedMatching Orphanet:506213 Rare disorder potentially indicated for kidney transplant oboInOwl:hasDbXref UMLS:C5681219 semapv:UnspecifiedMatching @@ -40480,9 +40212,6 @@ Orphanet:506358 Gabriele-de Vries syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv Orphanet:506358 Gabriele-de Vries syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:506358 Gabriele-de Vries syndrome oboInOwl:hasDbXref OMIM:617557 semapv:UnspecifiedMatching Orphanet:506358 Gabriele-de Vries syndrome oboInOwl:hasDbXref UMLS:C4479652 semapv:UnspecifiedMatching -Orphanet:506368 ARV1 homolog, fatty acid homeostasis modulator oboInOwl:hasDbXref ENSEMBL:ENSG00000173409 semapv:UnspecifiedMatching -Orphanet:506368 ARV1 homolog, fatty acid homeostasis modulator oboInOwl:hasDbXref OMIM:611647 semapv:UnspecifiedMatching -Orphanet:506368 ARV1 homolog, fatty acid homeostasis modulator oboInOwl:hasDbXref uniprot:Q9H2C2 semapv:UnspecifiedMatching Orphanet:506401 gamma-glutamyltransferase 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000100031 semapv:UnspecifiedMatching Orphanet:506401 gamma-glutamyltransferase 1 oboInOwl:hasDbXref OMIM:612346 semapv:UnspecifiedMatching Orphanet:506401 gamma-glutamyltransferase 1 oboInOwl:hasDbXref uniprot:P19440 semapv:UnspecifiedMatching @@ -40491,6 +40220,7 @@ Orphanet:506519 cyclin dependent kinase 19 oboInOwl:hasDbXref OMIM:614720 semapv Orphanet:506519 cyclin dependent kinase 19 oboInOwl:hasDbXref uniprot:Q9BWU1 semapv:UnspecifiedMatching Orphanet:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome oboInOwl:hasDbXref ICD10:L51.2 semapv:UnspecifiedMatching Orphanet:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome oboInOwl:hasDbXref ICD10:L51.2 semapv:UnspecifiedMatching +Orphanet:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome oboInOwl:hasDbXref UMLS:C3661878 semapv:UnspecifiedMatching Orphanet:506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome oboInOwl:hasDbXref icd11:EB13.2 semapv:UnspecifiedMatching Orphanet:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.0 semapv:UnspecifiedMatching Orphanet:507 Leishmaniasis oboInOwl:hasDbXref ICD10:B55.0 semapv:UnspecifiedMatching @@ -40585,9 +40315,6 @@ Orphanet:50815 Branchiogenic deafness syndrome oboInOwl:hasDbXref ICD10:Q87.0 se Orphanet:50815 Branchiogenic deafness syndrome oboInOwl:hasDbXref MESH:C563780 semapv:UnspecifiedMatching Orphanet:50815 Branchiogenic deafness syndrome oboInOwl:hasDbXref OMIM:609166 semapv:UnspecifiedMatching Orphanet:50815 Branchiogenic deafness syndrome oboInOwl:hasDbXref UMLS:C1836673 semapv:UnspecifiedMatching -Orphanet:50816 Spondylometaphyseal dysplasia with combined immunodeficiency oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -Orphanet:50816 Spondylometaphyseal dysplasia with combined immunodeficiency oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -Orphanet:50816 Spondylometaphyseal dysplasia with combined immunodeficiency oboInOwl:hasDbXref OMIM:607944 semapv:UnspecifiedMatching Orphanet:50816 Spondylometaphyseal dysplasia with combined immunodeficiency oboInOwl:hasDbXref UMLS:C1842763 semapv:UnspecifiedMatching Orphanet:50817 Duane anomaly-myopathy-scoliosis syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:50817 Duane anomaly-myopathy-scoliosis syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching @@ -40617,6 +40344,8 @@ Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesoph Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy oboInOwl:hasDbXref OMIM:617927 semapv:UnspecifiedMatching Orphanet:508501 Oral-facial-digital syndrome with short stature and brachymesophalangy oboInOwl:hasDbXref UMLS:C5567903 semapv:UnspecifiedMatching +Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome oboInOwl:hasDbXref OMIM:618097 semapv:UnspecifiedMatching Orphanet:508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome oboInOwl:hasDbXref UMLS:C5567901 semapv:UnspecifiedMatching Orphanet:508523 Hyperphenylalaninemia due to DNAJC12 deficiency oboInOwl:hasDbXref ICD10:E70.1 semapv:UnspecifiedMatching @@ -40644,6 +40373,9 @@ Orphanet:508692 misato mitochondrial distribution and morphology regulator 1 obo Orphanet:508711 zinc finger protein 462 oboInOwl:hasDbXref ENSEMBL:ENSG00000148143 semapv:UnspecifiedMatching Orphanet:508711 zinc finger protein 462 oboInOwl:hasDbXref OMIM:617371 semapv:UnspecifiedMatching Orphanet:508711 zinc finger protein 462 oboInOwl:hasDbXref uniprot:Q96JM2 semapv:UnspecifiedMatching +Orphanet:508946 BCL11 transcription factor B oboInOwl:hasDbXref ENSEMBL:ENSG00000127152 semapv:UnspecifiedMatching +Orphanet:508946 BCL11 transcription factor B oboInOwl:hasDbXref OMIM:606558 semapv:UnspecifiedMatching +Orphanet:508946 BCL11 transcription factor B oboInOwl:hasDbXref uniprot:Q9C0K0 semapv:UnspecifiedMatching Orphanet:508970 cadherin 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000170558 semapv:UnspecifiedMatching Orphanet:508970 cadherin 2 oboInOwl:hasDbXref OMIM:114020 semapv:UnspecifiedMatching Orphanet:508970 cadherin 2 oboInOwl:hasDbXref uniprot:P19022 semapv:UnspecifiedMatching @@ -40687,6 +40419,7 @@ Orphanet:509152 NFE2 like bZIP transcription factor 2 oboInOwl:hasDbXref uniprot Orphanet:50918 Kikuchi-Fujimoto disease oboInOwl:hasDbXref ICD10:I88.1 semapv:UnspecifiedMatching Orphanet:50918 Kikuchi-Fujimoto disease oboInOwl:hasDbXref ICD10:I88.1 semapv:UnspecifiedMatching Orphanet:50918 Kikuchi-Fujimoto disease oboInOwl:hasDbXref MESH:D020042 semapv:UnspecifiedMatching +Orphanet:50918 Kikuchi-Fujimoto disease oboInOwl:hasDbXref MedDRA:10069070 semapv:UnspecifiedMatching Orphanet:50918 Kikuchi-Fujimoto disease oboInOwl:hasDbXref UMLS:C0398367 semapv:UnspecifiedMatching Orphanet:50918 Kikuchi-Fujimoto disease oboInOwl:hasDbXref icd11:4B2Y semapv:UnspecifiedMatching Orphanet:509184 phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha oboInOwl:hasDbXref ENSEMBL:ENSG00000011405 semapv:UnspecifiedMatching @@ -40707,6 +40440,9 @@ Orphanet:509258 suppressor of cytokine signaling 1 oboInOwl:hasDbXref uniprot:O1 Orphanet:509260 spen family transcriptional repressor oboInOwl:hasDbXref ENSEMBL:ENSG00000065526 semapv:UnspecifiedMatching Orphanet:509260 spen family transcriptional repressor oboInOwl:hasDbXref OMIM:613484 semapv:UnspecifiedMatching Orphanet:509260 spen family transcriptional repressor oboInOwl:hasDbXref uniprot:Q96T58 semapv:UnspecifiedMatching +Orphanet:509262 speckle type BTB/POZ protein oboInOwl:hasDbXref ENSEMBL:ENSG00000121067 semapv:UnspecifiedMatching +Orphanet:509262 speckle type BTB/POZ protein oboInOwl:hasDbXref OMIM:602650 semapv:UnspecifiedMatching +Orphanet:509262 speckle type BTB/POZ protein oboInOwl:hasDbXref uniprot:O43791 semapv:UnspecifiedMatching Orphanet:509296 TNF receptor associated factor 7 oboInOwl:hasDbXref ENSEMBL:ENSG00000131653 semapv:UnspecifiedMatching Orphanet:509296 TNF receptor associated factor 7 oboInOwl:hasDbXref OMIM:606692 semapv:UnspecifiedMatching Orphanet:509296 TNF receptor associated factor 7 oboInOwl:hasDbXref uniprot:Q6Q0C0 semapv:UnspecifiedMatching @@ -40834,6 +40570,7 @@ Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells obo Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells oboInOwl:hasDbXref UMLS:C1512709 semapv:UnspecifiedMatching Orphanet:512017 Chronic lymphoproliferative disorder of natural killer cells oboInOwl:hasDbXref icd11:2A90.2 semapv:UnspecifiedMatching Orphanet:512034 Large granular lymphocyte leukemia oboInOwl:hasDbXref MESH:D054066 semapv:UnspecifiedMatching +Orphanet:512034 Large granular lymphocyte leukemia oboInOwl:hasDbXref UMLS:C1522378 semapv:UnspecifiedMatching Orphanet:51208 Formiminoglutamic aciduria oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching Orphanet:51208 Formiminoglutamic aciduria oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching Orphanet:51208 Formiminoglutamic aciduria oboInOwl:hasDbXref MESH:C537425 semapv:UnspecifiedMatching @@ -40857,6 +40594,9 @@ Orphanet:512453 dihydrolipoamide S-succinyltransferase oboInOwl:hasDbXref unipro Orphanet:512465 ATP synthase F1 subunit delta oboInOwl:hasDbXref ENSEMBL:ENSG00000099624 semapv:UnspecifiedMatching Orphanet:512465 ATP synthase F1 subunit delta oboInOwl:hasDbXref OMIM:603150 semapv:UnspecifiedMatching Orphanet:512465 ATP synthase F1 subunit delta oboInOwl:hasDbXref uniprot:P30049 semapv:UnspecifiedMatching +Orphanet:512501 cytochrome c oxidase assembly factor COX16 oboInOwl:hasDbXref ENSEMBL:ENSG00000133983 semapv:UnspecifiedMatching +Orphanet:512501 cytochrome c oxidase assembly factor COX16 oboInOwl:hasDbXref OMIM:618064 semapv:UnspecifiedMatching +Orphanet:512501 cytochrome c oxidase assembly factor COX16 oboInOwl:hasDbXref uniprot:Q9P0S2 semapv:UnspecifiedMatching Orphanet:512553 YME1 like 1 ATPase oboInOwl:hasDbXref ENSEMBL:ENSG00000136758 semapv:UnspecifiedMatching Orphanet:512553 YME1 like 1 ATPase oboInOwl:hasDbXref OMIM:607472 semapv:UnspecifiedMatching Orphanet:512553 YME1 like 1 ATPase oboInOwl:hasDbXref uniprot:Q96TA2 semapv:UnspecifiedMatching @@ -40901,9 +40641,6 @@ Orphanet:514000 jumonji and AT-rich interaction domain containing 2 oboInOwl:has Orphanet:514006 latent transforming growth factor beta binding protein 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000049323 semapv:UnspecifiedMatching Orphanet:514006 latent transforming growth factor beta binding protein 1 oboInOwl:hasDbXref OMIM:150390 semapv:UnspecifiedMatching Orphanet:514006 latent transforming growth factor beta binding protein 1 oboInOwl:hasDbXref uniprot:Q14766 semapv:UnspecifiedMatching -Orphanet:514010 MLX interacting protein like oboInOwl:hasDbXref ENSEMBL:ENSG00000009950 semapv:UnspecifiedMatching -Orphanet:514010 MLX interacting protein like oboInOwl:hasDbXref OMIM:605678 semapv:UnspecifiedMatching -Orphanet:514010 MLX interacting protein like oboInOwl:hasDbXref uniprot:Q9NP71 semapv:UnspecifiedMatching Orphanet:514012 muscle RAS oncogene homolog oboInOwl:hasDbXref ENSEMBL:ENSG00000158186 semapv:UnspecifiedMatching Orphanet:514012 muscle RAS oncogene homolog oboInOwl:hasDbXref OMIM:608435 semapv:UnspecifiedMatching Orphanet:514012 muscle RAS oncogene homolog oboInOwl:hasDbXref uniprot:O14807 semapv:UnspecifiedMatching @@ -40941,7 +40678,7 @@ Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref OMIM:208000 semapv:UnspecifiedMatching Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref OMIM:614473 semapv:UnspecifiedMatching Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref UMLS:C1859727 semapv:UnspecifiedMatching -Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref icd11:BD52.Y semapv:UnspecifiedMatching +Orphanet:51608 Generalized arterial calcification of infancy oboInOwl:hasDbXref icd11:BD52 semapv:UnspecifiedMatching Orphanet:51636 WHIM syndrome oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:51636 WHIM syndrome oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:51636 WHIM syndrome oboInOwl:hasDbXref MESH:C536697 semapv:UnspecifiedMatching @@ -41021,6 +40758,7 @@ Orphanet:519272 Structural developmental eye defect oboInOwl:hasDbXref UMLS:C568 Orphanet:519274 Syndromic lacrimal system disorder oboInOwl:hasDbXref UMLS:C5681383 semapv:UnspecifiedMatching Orphanet:519276 Anterior segment developmental abnormality with extraocular manifestations oboInOwl:hasDbXref UMLS:C5681394 semapv:UnspecifiedMatching Orphanet:519278 Infective keratitis oboInOwl:hasDbXref MedDRA:10076672 semapv:UnspecifiedMatching +Orphanet:519278 Infective keratitis oboInOwl:hasDbXref UMLS:C3898765 semapv:UnspecifiedMatching Orphanet:519280 Rare conjunctivitis oboInOwl:hasDbXref UMLS:C5681392 semapv:UnspecifiedMatching Orphanet:519282 Rare corneal disorder oboInOwl:hasDbXref UMLS:C5681393 semapv:UnspecifiedMatching Orphanet:519284 Rare disorder of the anterior segment of the eye oboInOwl:hasDbXref UMLS:C5681390 semapv:UnspecifiedMatching @@ -41221,8 +40959,6 @@ Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syn Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome oboInOwl:hasDbXref OMIM:617296 semapv:UnspecifiedMatching Orphanet:521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome oboInOwl:hasDbXref UMLS:C4284592 semapv:UnspecifiedMatching -Orphanet:521399 NON RARE IN EUROPE: Non rare obesity oboInOwl:hasDbXref ICD10:E66.0 semapv:UnspecifiedMatching -Orphanet:521399 NON RARE IN EUROPE: Non rare obesity oboInOwl:hasDbXref ICD10:E66.0 semapv:UnspecifiedMatching Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome oboInOwl:hasDbXref ICD10:E83.8 semapv:UnspecifiedMatching Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome oboInOwl:hasDbXref ICD10:E83.8 semapv:UnspecifiedMatching Orphanet:521406 Dystonia-parkinsonism-hypermanganesemia syndrome oboInOwl:hasDbXref OMIM:617013 semapv:UnspecifiedMatching @@ -41262,8 +40998,6 @@ Orphanet:521792 sterile alpha motif domain containing 12 oboInOwl:hasDbXref unip Orphanet:521825 kinetochore localized astrin (SPAG5) binding protein oboInOwl:hasDbXref ENSEMBL:ENSG00000128944 semapv:UnspecifiedMatching Orphanet:521825 kinetochore localized astrin (SPAG5) binding protein oboInOwl:hasDbXref OMIM:614718 semapv:UnspecifiedMatching Orphanet:521825 kinetochore localized astrin (SPAG5) binding protein oboInOwl:hasDbXref uniprot:Q9Y448 semapv:UnspecifiedMatching -Orphanet:52183 Premature chromosome condensation with microcephaly and intellectual disability oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching -Orphanet:52183 Premature chromosome condensation with microcephaly and intellectual disability oboInOwl:hasDbXref ICD10:Q02 semapv:UnspecifiedMatching Orphanet:521884 RAS guanyl releasing protein 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000172575 semapv:UnspecifiedMatching Orphanet:521884 RAS guanyl releasing protein 1 oboInOwl:hasDbXref OMIM:603962 semapv:UnspecifiedMatching Orphanet:521884 RAS guanyl releasing protein 1 oboInOwl:hasDbXref uniprot:O95267 semapv:UnspecifiedMatching @@ -41354,9 +41088,6 @@ Orphanet:52427 Retinitis punctata albescens oboInOwl:hasDbXref ICD10:H35.5 semap Orphanet:52427 Retinitis punctata albescens oboInOwl:hasDbXref OMIM:136880 semapv:UnspecifiedMatching Orphanet:52427 Retinitis punctata albescens oboInOwl:hasDbXref UMLS:C1405854 semapv:UnspecifiedMatching Orphanet:52427 Retinitis punctata albescens oboInOwl:hasDbXref icd11:9B70 semapv:UnspecifiedMatching -Orphanet:52428 Congenital muscular dystrophy type 1C oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -Orphanet:52428 Congenital muscular dystrophy type 1C oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching -Orphanet:52428 Congenital muscular dystrophy type 1C oboInOwl:hasDbXref OMIM:606612 semapv:UnspecifiedMatching Orphanet:52428 Congenital muscular dystrophy type 1C oboInOwl:hasDbXref UMLS:C1847759 semapv:UnspecifiedMatching Orphanet:52429 Branchiootic syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:52429 Branchiootic syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching @@ -41470,6 +41201,7 @@ Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXre Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:606053 semapv:UnspecifiedMatching Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:617755 semapv:UnspecifiedMatching Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618009 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618060 semapv:UnspecifiedMatching Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618292 semapv:UnspecifiedMatching Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618342 semapv:UnspecifiedMatching Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:618430 semapv:UnspecifiedMatching @@ -41504,6 +41236,10 @@ Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXre Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619306 semapv:UnspecifiedMatching Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619314 semapv:UnspecifiedMatching Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619320 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619758 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619759 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619950 semapv:UnspecifiedMatching +Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:619951 semapv:UnspecifiedMatching Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:620065 semapv:UnspecifiedMatching Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref OMIM:620098 semapv:UnspecifiedMatching Orphanet:528084 Non-specific syndromic intellectual disability oboInOwl:hasDbXref UMLS:C5568766 semapv:UnspecifiedMatching @@ -41535,9 +41271,11 @@ Orphanet:528371 solute carrier family 39 member 14 oboInOwl:hasDbXref OMIM:60873 Orphanet:528371 solute carrier family 39 member 14 oboInOwl:hasDbXref uniprot:Q15043 semapv:UnspecifiedMatching Orphanet:528623 Hereditary angioedema with C1Inh deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching Orphanet:528623 Hereditary angioedema with C1Inh deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching +Orphanet:528623 Hereditary angioedema with C1Inh deficiency oboInOwl:hasDbXref MedDRA:10080955 semapv:UnspecifiedMatching Orphanet:528623 Hereditary angioedema with C1Inh deficiency oboInOwl:hasDbXref UMLS:C4552294 semapv:UnspecifiedMatching Orphanet:528647 Hereditary angioedema with normal C1Inh oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching Orphanet:528647 Hereditary angioedema with normal C1Inh oboInOwl:hasDbXref ICD10:T78.3 semapv:UnspecifiedMatching +Orphanet:528647 Hereditary angioedema with normal C1Inh oboInOwl:hasDbXref MedDRA:10080953 semapv:UnspecifiedMatching Orphanet:528647 Hereditary angioedema with normal C1Inh oboInOwl:hasDbXref UMLS:C1960459 semapv:UnspecifiedMatching Orphanet:528647 Hereditary angioedema with normal C1Inh oboInOwl:hasDbXref icd11:4A00.14 semapv:UnspecifiedMatching Orphanet:528663 Acquired angioedema with C1Inh deficiency oboInOwl:hasDbXref ICD10:D84.1 semapv:UnspecifiedMatching @@ -41579,6 +41317,9 @@ Orphanet:529590 ALG5 dolichyl-phosphate beta-glucosyltransferase oboInOwl:hasDbX Orphanet:529620 ferredoxin reductase oboInOwl:hasDbXref ENSEMBL:ENSG00000161513 semapv:UnspecifiedMatching Orphanet:529620 ferredoxin reductase oboInOwl:hasDbXref OMIM:103270 semapv:UnspecifiedMatching Orphanet:529620 ferredoxin reductase oboInOwl:hasDbXref uniprot:P22570 semapv:UnspecifiedMatching +Orphanet:529660 ATPase family AAA domain containing 3B oboInOwl:hasDbXref ENSEMBL:ENSG00000160072 semapv:UnspecifiedMatching +Orphanet:529660 ATPase family AAA domain containing 3B oboInOwl:hasDbXref OMIM:612317 semapv:UnspecifiedMatching +Orphanet:529660 ATPase family AAA domain containing 3B oboInOwl:hasDbXref uniprot:Q5T9A4 semapv:UnspecifiedMatching Orphanet:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome oboInOwl:hasDbXref OMIM:617810 semapv:UnspecifiedMatching @@ -41598,8 +41339,6 @@ Orphanet:529799 Acute bilirubin encephalopathy oboInOwl:hasDbXref UMLS:C5671282 Orphanet:529808 Chronic bilirubin encephalopathy oboInOwl:hasDbXref ICD10:P57.8 semapv:UnspecifiedMatching Orphanet:529808 Chronic bilirubin encephalopathy oboInOwl:hasDbXref ICD10:P57.8 semapv:UnspecifiedMatching Orphanet:529808 Chronic bilirubin encephalopathy oboInOwl:hasDbXref UMLS:C5575229 semapv:UnspecifiedMatching -Orphanet:529819 NON RARE IN EUROPE: Exfoliation syndrome oboInOwl:hasDbXref ICD10:H40.1 semapv:UnspecifiedMatching -Orphanet:529819 NON RARE IN EUROPE: Exfoliation syndrome oboInOwl:hasDbXref ICD10:H40.1 semapv:UnspecifiedMatching Orphanet:529831 Letrozole toxicity oboInOwl:hasDbXref ICD10:T88.7 semapv:UnspecifiedMatching Orphanet:529831 Letrozole toxicity oboInOwl:hasDbXref ICD10:T88.7 semapv:UnspecifiedMatching Orphanet:529831 Letrozole toxicity oboInOwl:hasDbXref UMLS:C5681461 semapv:UnspecifiedMatching @@ -41658,12 +41397,12 @@ Orphanet:530303 Progressive dementia with neuroserpin inclusion bodies oboInOwl: Orphanet:530303 Progressive dementia with neuroserpin inclusion bodies oboInOwl:hasDbXref OMIM:604218 semapv:UnspecifiedMatching Orphanet:530303 Progressive dementia with neuroserpin inclusion bodies oboInOwl:hasDbXref UMLS:C5680143 semapv:UnspecifiedMatching Orphanet:530313 PIK3CA-related overgrowth syndrome oboInOwl:hasDbXref MedDRA:10081236 semapv:UnspecifiedMatching +Orphanet:530313 PIK3CA-related overgrowth syndrome oboInOwl:hasDbXref UMLS:C4728213 semapv:UnspecifiedMatching Orphanet:53035 Caroli disease oboInOwl:hasDbXref ICD10:Q44.6 semapv:UnspecifiedMatching Orphanet:53035 Caroli disease oboInOwl:hasDbXref ICD10:Q44.6 semapv:UnspecifiedMatching Orphanet:53035 Caroli disease oboInOwl:hasDbXref MESH:D016767 semapv:UnspecifiedMatching Orphanet:53035 Caroli disease oboInOwl:hasDbXref MedDRA:10013003 semapv:UnspecifiedMatching Orphanet:53035 Caroli disease oboInOwl:hasDbXref OMIM:600643 semapv:UnspecifiedMatching -Orphanet:53035 Caroli disease oboInOwl:hasDbXref UMLS:C0162510 semapv:UnspecifiedMatching Orphanet:53035 Caroli disease oboInOwl:hasDbXref icd11:LB20.00 semapv:UnspecifiedMatching Orphanet:530642 nucleoporin 85 oboInOwl:hasDbXref ENSEMBL:ENSG00000125450 semapv:UnspecifiedMatching Orphanet:530642 nucleoporin 85 oboInOwl:hasDbXref OMIM:170285 semapv:UnspecifiedMatching @@ -41853,6 +41592,7 @@ Orphanet:536391 RASopathy oboInOwl:hasDbXref UMLS:C5555857 semapv:UnspecifiedMat Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref OMIM:615349 semapv:UnspecifiedMatching +Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref UMLS:C3809210 semapv:UnspecifiedMatching Orphanet:536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref icd11:LD28.1Y semapv:UnspecifiedMatching Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:536471 Spondylodysplastic Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching @@ -41892,6 +41632,7 @@ Orphanet:53691 Congenital cornea plana oboInOwl:hasDbXref ICD10:Q13.4 semapv:Uns Orphanet:53691 Congenital cornea plana oboInOwl:hasDbXref ICD10:Q13.4 semapv:UnspecifiedMatching Orphanet:53691 Congenital cornea plana oboInOwl:hasDbXref OMIM:121400 semapv:UnspecifiedMatching Orphanet:53691 Congenital cornea plana oboInOwl:hasDbXref OMIM:217300 semapv:UnspecifiedMatching +Orphanet:53691 Congenital cornea plana oboInOwl:hasDbXref UMLS:C0344529 semapv:UnspecifiedMatching Orphanet:53691 Congenital cornea plana oboInOwl:hasDbXref icd11:LA11.1 semapv:UnspecifiedMatching Orphanet:53693 GRACILE syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:53693 GRACILE syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching @@ -41912,6 +41653,7 @@ Orphanet:53697 Gnathodiaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1833736 semap Orphanet:53697 Gnathodiaphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching Orphanet:53698 Myosin storage myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:53698 Myosin storage myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching +Orphanet:53698 Myosin storage myopathy oboInOwl:hasDbXref MESH:C564253 semapv:UnspecifiedMatching Orphanet:53698 Myosin storage myopathy oboInOwl:hasDbXref OMIM:255160 semapv:UnspecifiedMatching Orphanet:53698 Myosin storage myopathy oboInOwl:hasDbXref OMIM:608358 semapv:UnspecifiedMatching Orphanet:53698 Myosin storage myopathy oboInOwl:hasDbXref UMLS:C5681316 semapv:UnspecifiedMatching @@ -41988,16 +41730,17 @@ Orphanet:538866 Pustular pyoderma gangrenosum oboInOwl:hasDbXref UMLS:C5681317 s Orphanet:538866 Pustular pyoderma gangrenosum oboInOwl:hasDbXref icd11:EB21 semapv:UnspecifiedMatching Orphanet:538869 Bullous pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching Orphanet:538869 Bullous pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching +Orphanet:538869 Bullous pyoderma gangrenosum oboInOwl:hasDbXref UMLS:C0406687 semapv:UnspecifiedMatching Orphanet:538869 Bullous pyoderma gangrenosum oboInOwl:hasDbXref icd11:EB21 semapv:UnspecifiedMatching Orphanet:538872 Vegetative pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching Orphanet:538872 Vegetative pyoderma gangrenosum oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching Orphanet:538872 Vegetative pyoderma gangrenosum oboInOwl:hasDbXref UMLS:C5680158 semapv:UnspecifiedMatching Orphanet:538872 Vegetative pyoderma gangrenosum oboInOwl:hasDbXref icd11:EB21 semapv:UnspecifiedMatching -Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching -Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching -Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency oboInOwl:hasDbXref OMIM:308240 semapv:UnspecifiedMatching -Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency oboInOwl:hasDbXref UMLS:C5399825 semapv:UnspecifiedMatching -Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency oboInOwl:hasDbXref icd11:4A01.22 semapv:UnspecifiedMatching +Orphanet:538931 X-linked lymphoproliferative disease due to SAP deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching +Orphanet:538931 X-linked lymphoproliferative disease due to SAP deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching +Orphanet:538931 X-linked lymphoproliferative disease due to SAP deficiency oboInOwl:hasDbXref OMIM:308240 semapv:UnspecifiedMatching +Orphanet:538931 X-linked lymphoproliferative disease due to SAP deficiency oboInOwl:hasDbXref UMLS:C5399825 semapv:UnspecifiedMatching +Orphanet:538931 X-linked lymphoproliferative disease due to SAP deficiency oboInOwl:hasDbXref icd11:4A01.22 semapv:UnspecifiedMatching Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency oboInOwl:hasDbXref MESH:C564469 semapv:UnspecifiedMatching @@ -42098,15 +41841,14 @@ Orphanet:542310 Leukoencephalopathy with calcifications and cysts oboInOwl:hasDb Orphanet:542323 CAR T cell therapy-associated cytokine release syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:542323 CAR T cell therapy-associated cytokine release syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:542323 CAR T cell therapy-associated cytokine release syndrome oboInOwl:hasDbXref UMLS:C5680162 semapv:UnspecifiedMatching -Orphanet:54238 Myotonic dystrophy type 3 oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching -Orphanet:54238 Myotonic dystrophy type 3 oboInOwl:hasDbXref ICD10:G71.1 semapv:UnspecifiedMatching Orphanet:54247 Posterior cortical atrophy oboInOwl:hasDbXref ICD10:G31.1 semapv:UnspecifiedMatching Orphanet:54247 Posterior cortical atrophy oboInOwl:hasDbXref ICD10:G31.1 semapv:UnspecifiedMatching +Orphanet:54247 Posterior cortical atrophy oboInOwl:hasDbXref MedDRA:10078207 semapv:UnspecifiedMatching Orphanet:54247 Posterior cortical atrophy oboInOwl:hasDbXref UMLS:C4275079 semapv:UnspecifiedMatching Orphanet:54247 Posterior cortical atrophy oboInOwl:hasDbXref icd11:8A21.0 semapv:UnspecifiedMatching -Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome oboInOwl:hasDbXref UMLS:C4303863 semapv:UnspecifiedMatching +Orphanet:54251 Aseptic abscess syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:54251 Aseptic abscess syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:54251 Aseptic abscess syndrome oboInOwl:hasDbXref UMLS:C4303863 semapv:UnspecifiedMatching Orphanet:542568 Quadricuspid aortic valve oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching Orphanet:542568 Quadricuspid aortic valve oboInOwl:hasDbXref ICD10:Q23.8 semapv:UnspecifiedMatching Orphanet:542568 Quadricuspid aortic valve oboInOwl:hasDbXref MESH:D000082902 semapv:UnspecifiedMatching @@ -42206,9 +41948,12 @@ Orphanet:544208 growth arrest specific 2 like 2 oboInOwl:hasDbXref OMIM:611398 s Orphanet:544208 growth arrest specific 2 like 2 oboInOwl:hasDbXref uniprot:Q8NHY3 semapv:UnspecifiedMatching Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching +Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy oboInOwl:hasDbXref OMIM:612621 semapv:UnspecifiedMatching Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy oboInOwl:hasDbXref UMLS:C5680163 semapv:UnspecifiedMatching +Orphanet:544254 SYNGAP1-related developmental and epileptic encephalopathy oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:544458 Hemolytic uremic syndrome oboInOwl:hasDbXref MESH:D006463 semapv:UnspecifiedMatching Orphanet:544458 Hemolytic uremic syndrome oboInOwl:hasDbXref MedDRA:10018932 semapv:UnspecifiedMatching +Orphanet:544458 Hemolytic uremic syndrome oboInOwl:hasDbXref UMLS:C0019061 semapv:UnspecifiedMatching Orphanet:544469 PRUNE1-related neurological syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:544469 PRUNE1-related neurological syndrome oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:544469 PRUNE1-related neurological syndrome oboInOwl:hasDbXref OMIM:617481 semapv:UnspecifiedMatching @@ -42273,6 +42018,7 @@ Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref MESH:D008224 semapv:Unspecif Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref MedDRA:10085128 semapv:UnspecifiedMatching Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref OMIM:613024 semapv:UnspecifiedMatching Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref UMLS:C0024301 semapv:UnspecifiedMatching +Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref icd11:2A80 semapv:UnspecifiedMatching Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref icd11:2A80.0 semapv:UnspecifiedMatching Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref icd11:2A80.1 semapv:UnspecifiedMatching Orphanet:545 Follicular lymphoma oboInOwl:hasDbXref icd11:2A80.2 semapv:UnspecifiedMatching @@ -42406,6 +42152,7 @@ Orphanet:556 Malakoplakia oboInOwl:hasDbXref ICD10:N32.8 semapv:UnspecifiedMatch Orphanet:556 Malakoplakia oboInOwl:hasDbXref ICD10:N36.8 semapv:UnspecifiedMatching Orphanet:556 Malakoplakia oboInOwl:hasDbXref ICD10:N36.8 semapv:UnspecifiedMatching Orphanet:556 Malakoplakia oboInOwl:hasDbXref MESH:D008287 semapv:UnspecifiedMatching +Orphanet:556 Malakoplakia oboInOwl:hasDbXref MedDRA:10080344 semapv:UnspecifiedMatching Orphanet:556 Malakoplakia oboInOwl:hasDbXref UMLS:C0024525 semapv:UnspecifiedMatching Orphanet:556 Malakoplakia oboInOwl:hasDbXref icd11:EL3Y semapv:UnspecifiedMatching Orphanet:556 Malakoplakia oboInOwl:hasDbXref icd11:GC01.Y semapv:UnspecifiedMatching @@ -42680,28 +42427,37 @@ Orphanet:563581 Autoimmune hepatitis type 2 oboInOwl:hasDbXref UMLS:C4303163 sem Orphanet:563581 Autoimmune hepatitis type 2 oboInOwl:hasDbXref icd11:DB96.0 semapv:UnspecifiedMatching Orphanet:563589 Seronegative autoimmune hepatitis oboInOwl:hasDbXref ICD10:K75.4 semapv:UnspecifiedMatching Orphanet:563589 Seronegative autoimmune hepatitis oboInOwl:hasDbXref ICD10:K75.4 semapv:UnspecifiedMatching +Orphanet:563589 Seronegative autoimmune hepatitis oboInOwl:hasDbXref UMLS:C5680121 semapv:UnspecifiedMatching Orphanet:563589 Seronegative autoimmune hepatitis oboInOwl:hasDbXref icd11:DB96.0 semapv:UnspecifiedMatching Orphanet:563609 Isolated anencephaly oboInOwl:hasDbXref ICD10:Q00.0 semapv:UnspecifiedMatching Orphanet:563609 Isolated anencephaly oboInOwl:hasDbXref ICD10:Q00.0 semapv:UnspecifiedMatching Orphanet:563609 Isolated anencephaly oboInOwl:hasDbXref MedDRA:10002320 semapv:UnspecifiedMatching +Orphanet:563609 Isolated anencephaly oboInOwl:hasDbXref UMLS:C0002902 semapv:UnspecifiedMatching Orphanet:563609 Isolated anencephaly oboInOwl:hasDbXref icd11:LA00.0 semapv:UnspecifiedMatching Orphanet:563612 Isolated exencephaly oboInOwl:hasDbXref ICD10:Q00.0 semapv:UnspecifiedMatching Orphanet:563612 Isolated exencephaly oboInOwl:hasDbXref ICD10:Q00.0 semapv:UnspecifiedMatching +Orphanet:563612 Isolated exencephaly oboInOwl:hasDbXref UMLS:C0266453 semapv:UnspecifiedMatching Orphanet:563612 Isolated exencephaly oboInOwl:hasDbXref icd11:LA00.0Y semapv:UnspecifiedMatching Orphanet:563666 Serous cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching Orphanet:563666 Serous cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching +Orphanet:563666 Serous cystadenoma of childhood oboInOwl:hasDbXref UMLS:C4708593 semapv:UnspecifiedMatching Orphanet:563671 Mucinous cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching Orphanet:563671 Mucinous cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching +Orphanet:563671 Mucinous cystadenoma of childhood oboInOwl:hasDbXref UMLS:C4708594 semapv:UnspecifiedMatching Orphanet:563676 Seromucinous cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching Orphanet:563676 Seromucinous cystadenoma of childhood oboInOwl:hasDbXref ICD10:D27 semapv:UnspecifiedMatching +Orphanet:563676 Seromucinous cystadenoma of childhood oboInOwl:hasDbXref UMLS:C5231009 semapv:UnspecifiedMatching Orphanet:563684 Furuncular myiasis due to Dermatobia hominis oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching Orphanet:563684 Furuncular myiasis due to Dermatobia hominis oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching +Orphanet:563684 Furuncular myiasis due to Dermatobia hominis oboInOwl:hasDbXref UMLS:C0277400 semapv:UnspecifiedMatching Orphanet:563684 Furuncular myiasis due to Dermatobia hominis oboInOwl:hasDbXref icd11:1G01.3 semapv:UnspecifiedMatching Orphanet:563687 Furuncular myiasis due to Cordylobia anthropophaga oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching Orphanet:563687 Furuncular myiasis due to Cordylobia anthropophaga oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching +Orphanet:563687 Furuncular myiasis due to Cordylobia anthropophaga oboInOwl:hasDbXref UMLS:C4511624 semapv:UnspecifiedMatching Orphanet:563687 Furuncular myiasis due to Cordylobia anthropophaga oboInOwl:hasDbXref icd11:1G01.3 semapv:UnspecifiedMatching Orphanet:563690 Furuncular myiasis due to Cordylobia rodhaini oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching Orphanet:563690 Furuncular myiasis due to Cordylobia rodhaini oboInOwl:hasDbXref ICD10:B87.0 semapv:UnspecifiedMatching +Orphanet:563690 Furuncular myiasis due to Cordylobia rodhaini oboInOwl:hasDbXref UMLS:C5231033 semapv:UnspecifiedMatching Orphanet:563690 Furuncular myiasis due to Cordylobia rodhaini oboInOwl:hasDbXref icd11:1G01.3 semapv:UnspecifiedMatching Orphanet:563708 Syndromic congenital sodium diarrhea oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching Orphanet:563708 Syndromic congenital sodium diarrhea oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching @@ -42712,6 +42468,7 @@ Orphanet:563708 Syndromic congenital sodium diarrhea oboInOwl:hasDbXref UMLS:C56 Orphanet:563951 Isolated congenital aglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching Orphanet:563951 Isolated congenital aglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching Orphanet:563951 Isolated congenital aglossia oboInOwl:hasDbXref MedDRA:10001501 semapv:UnspecifiedMatching +Orphanet:563951 Isolated congenital aglossia oboInOwl:hasDbXref UMLS:C0158663 semapv:UnspecifiedMatching Orphanet:563951 Isolated congenital aglossia oboInOwl:hasDbXref icd11:LA31.1 semapv:UnspecifiedMatching Orphanet:563954 Isolated congenital hypoglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching Orphanet:563954 Isolated congenital hypoglossia oboInOwl:hasDbXref ICD10:Q38.3 semapv:UnspecifiedMatching @@ -42822,6 +42579,7 @@ Orphanet:566049 solute carrier family 12 member 2 oboInOwl:hasDbXref OMIM:600840 Orphanet:566049 solute carrier family 12 member 2 oboInOwl:hasDbXref uniprot:P55011 semapv:UnspecifiedMatching Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome oboInOwl:hasDbXref OMIM:260570 semapv:UnspecifiedMatching Orphanet:566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome oboInOwl:hasDbXref UMLS:C5568564 semapv:UnspecifiedMatching Orphanet:566161 cilia and flagella associated protein 221 oboInOwl:hasDbXref ENSEMBL:ENSG00000163075 semapv:UnspecifiedMatching Orphanet:566161 cilia and flagella associated protein 221 oboInOwl:hasDbXref OMIM:618704 semapv:UnspecifiedMatching @@ -42897,6 +42655,7 @@ Orphanet:566974 intersectin 1 oboInOwl:hasDbXref OMIM:602442 semapv:UnspecifiedM Orphanet:566974 intersectin 1 oboInOwl:hasDbXref uniprot:Q15811 semapv:UnspecifiedMatching Orphanet:567 22q11.2 deletion syndrome oboInOwl:hasDbXref ICD10:D82.1 semapv:UnspecifiedMatching Orphanet:567 22q11.2 deletion syndrome oboInOwl:hasDbXref ICD10:D82.1 semapv:UnspecifiedMatching +Orphanet:567 22q11.2 deletion syndrome oboInOwl:hasDbXref MESH:D004062 semapv:UnspecifiedMatching Orphanet:567 22q11.2 deletion syndrome oboInOwl:hasDbXref MedDRA:10012979 semapv:UnspecifiedMatching Orphanet:567 22q11.2 deletion syndrome oboInOwl:hasDbXref OMIM:125520 semapv:UnspecifiedMatching Orphanet:567 22q11.2 deletion syndrome oboInOwl:hasDbXref OMIM:188400 semapv:UnspecifiedMatching @@ -42921,7 +42680,6 @@ Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXr Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref MESH:C536404 semapv:UnspecifiedMatching Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:619263 semapv:UnspecifiedMatching -Orphanet:567548 Idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref UMLS:C5543267 semapv:UnspecifiedMatching Orphanet:567550 Idiopathic multidrug-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching Orphanet:567550 Idiopathic multidrug-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching Orphanet:567550 Idiopathic multidrug-resistant nephrotic syndrome oboInOwl:hasDbXref UMLS:C5681293 semapv:UnspecifiedMatching @@ -42936,6 +42694,7 @@ Orphanet:567562 Disorder with multisystemic involvement and glomerulopathy oboIn Orphanet:567564 Nephrotic syndrome without extrarenal manifestations oboInOwl:hasDbXref UMLS:C5681299 semapv:UnspecifiedMatching Orphanet:567983 Parenteral nutrition-associated cholestasis oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:567983 Parenteral nutrition-associated cholestasis oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching +Orphanet:567983 Parenteral nutrition-associated cholestasis oboInOwl:hasDbXref MedDRA:10074151 semapv:UnspecifiedMatching Orphanet:567983 Parenteral nutrition-associated cholestasis oboInOwl:hasDbXref UMLS:C3274301 semapv:UnspecifiedMatching Orphanet:567983 Parenteral nutrition-associated cholestasis oboInOwl:hasDbXref icd11:DB99.60 semapv:UnspecifiedMatching Orphanet:568 Microphthalmia, Lenz type oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching @@ -43033,10 +42792,7 @@ Orphanet:569380 YEATS domain containing 2 oboInOwl:hasDbXref uniprot:Q9ULM3 sema Orphanet:569386 cilia and flagella associated protein 65 oboInOwl:hasDbXref ENSEMBL:ENSG00000181378 semapv:UnspecifiedMatching Orphanet:569386 cilia and flagella associated protein 65 oboInOwl:hasDbXref OMIM:614270 semapv:UnspecifiedMatching Orphanet:569386 cilia and flagella associated protein 65 oboInOwl:hasDbXref uniprot:Q6ZU64 semapv:UnspecifiedMatching -Orphanet:56965 Progressive bulbar paralysis of childhood oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching -Orphanet:56965 Progressive bulbar paralysis of childhood oboInOwl:hasDbXref ICD10:G12.2 semapv:UnspecifiedMatching Orphanet:56965 Progressive bulbar paralysis of childhood oboInOwl:hasDbXref MESH:D010244 semapv:UnspecifiedMatching -Orphanet:56965 Progressive bulbar paralysis of childhood oboInOwl:hasDbXref OMIM:211500 semapv:UnspecifiedMatching Orphanet:56970 Human prion disease oboInOwl:hasDbXref MESH:D017096 semapv:UnspecifiedMatching Orphanet:56970 Human prion disease oboInOwl:hasDbXref UMLS:C0162534 semapv:UnspecifiedMatching Orphanet:569700 microRNA 140 oboInOwl:hasDbXref ENSEMBL:ENSG00000208017 semapv:UnspecifiedMatching @@ -43090,6 +42846,7 @@ Orphanet:570422 Galactose mutarotase deficiency oboInOwl:hasDbXref UMLS:C5394377 Orphanet:570422 Galactose mutarotase deficiency oboInOwl:hasDbXref icd11:5C51.4Y semapv:UnspecifiedMatching Orphanet:570431 Idiopathic multicentric Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching Orphanet:570431 Idiopathic multicentric Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching +Orphanet:570431 Idiopathic multicentric Castleman disease oboInOwl:hasDbXref UMLS:C5197665 semapv:UnspecifiedMatching Orphanet:570431 Idiopathic multicentric Castleman disease oboInOwl:hasDbXref icd11:4B2Y semapv:UnspecifiedMatching Orphanet:570438 HHV-8-associated multicentric Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching Orphanet:570438 HHV-8-associated multicentric Castleman disease oboInOwl:hasDbXref ICD10:D47.7 semapv:UnspecifiedMatching @@ -43125,6 +42882,7 @@ Orphanet:572 Immunodeficiency by defective expression of MHC class II oboInOwl:h Orphanet:572 Immunodeficiency by defective expression of MHC class II oboInOwl:hasDbXref MESH:C537079 semapv:UnspecifiedMatching Orphanet:572 Immunodeficiency by defective expression of MHC class II oboInOwl:hasDbXref OMIM:209920 semapv:UnspecifiedMatching Orphanet:572 Immunodeficiency by defective expression of MHC class II oboInOwl:hasDbXref UMLS:C2931418 semapv:UnspecifiedMatching +Orphanet:572 Immunodeficiency by defective expression of MHC class II oboInOwl:hasDbXref icd11:4A01.12 semapv:UnspecifiedMatching Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome oboInOwl:hasDbXref OMIM:618325 semapv:UnspecifiedMatching @@ -43137,7 +42895,6 @@ Orphanet:572322 DEAD-box helicase 6 oboInOwl:hasDbXref OMIM:600326 semapv:Unspec Orphanet:572322 DEAD-box helicase 6 oboInOwl:hasDbXref uniprot:P26196 semapv:UnspecifiedMatching Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching -Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus oboInOwl:hasDbXref OMIM:110100 semapv:UnspecifiedMatching Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus oboInOwl:hasDbXref UMLS:C5437588 semapv:UnspecifiedMatching Orphanet:572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus oboInOwl:hasDbXref icd11:LD44.30 semapv:UnspecifiedMatching Orphanet:572340 cilia and flagella associated protein 70 oboInOwl:hasDbXref ENSEMBL:ENSG00000156042 semapv:UnspecifiedMatching @@ -43163,6 +42920,7 @@ Orphanet:572385 Brachydactyly type B1 oboInOwl:hasDbXref ICD10:Q73.8 semapv:Unsp Orphanet:572385 Brachydactyly type B1 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:572385 Brachydactyly type B1 oboInOwl:hasDbXref MESH:C566196 semapv:UnspecifiedMatching Orphanet:572385 Brachydactyly type B1 oboInOwl:hasDbXref OMIM:113000 semapv:UnspecifiedMatching +Orphanet:572385 Brachydactyly type B1 oboInOwl:hasDbXref UMLS:C1862112 semapv:UnspecifiedMatching Orphanet:572385 Brachydactyly type B1 oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching Orphanet:572405 DExH-box helicase 30 oboInOwl:hasDbXref ENSEMBL:ENSG00000132153 semapv:UnspecifiedMatching Orphanet:572405 DExH-box helicase 30 oboInOwl:hasDbXref OMIM:616423 semapv:UnspecifiedMatching @@ -43170,6 +42928,9 @@ Orphanet:572405 DExH-box helicase 30 oboInOwl:hasDbXref uniprot:Q7L2E3 semapv:Un Orphanet:572412 glutamate ionotropic receptor AMPA type subunit 4 oboInOwl:hasDbXref ENSEMBL:ENSG00000152578 semapv:UnspecifiedMatching Orphanet:572412 glutamate ionotropic receptor AMPA type subunit 4 oboInOwl:hasDbXref OMIM:138246 semapv:UnspecifiedMatching Orphanet:572412 glutamate ionotropic receptor AMPA type subunit 4 oboInOwl:hasDbXref uniprot:P48058 semapv:UnspecifiedMatching +Orphanet:572421 heterogeneous nuclear ribonucleoprotein H2 oboInOwl:hasDbXref ENSEMBL:ENSG00000126945 semapv:UnspecifiedMatching +Orphanet:572421 heterogeneous nuclear ribonucleoprotein H2 oboInOwl:hasDbXref OMIM:300610 semapv:UnspecifiedMatching +Orphanet:572421 heterogeneous nuclear ribonucleoprotein H2 oboInOwl:hasDbXref uniprot:P55795 semapv:UnspecifiedMatching Orphanet:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching Orphanet:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia oboInOwl:hasDbXref ICD10:J84.0 semapv:UnspecifiedMatching Orphanet:572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia oboInOwl:hasDbXref OMIM:618042 semapv:UnspecifiedMatching @@ -43183,10 +42944,12 @@ Orphanet:572486 peptidase, mitochondrial processing subunit beta oboInOwl:hasDbX Orphanet:572543 RFVT2-related riboflavin transporter deficiency oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:572543 RFVT2-related riboflavin transporter deficiency oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:572543 RFVT2-related riboflavin transporter deficiency oboInOwl:hasDbXref OMIM:211530 semapv:UnspecifiedMatching +Orphanet:572543 RFVT2-related riboflavin transporter deficiency oboInOwl:hasDbXref UMLS:C0796274 semapv:UnspecifiedMatching Orphanet:572543 RFVT2-related riboflavin transporter deficiency oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:572550 RFVT3-related riboflavin transporter deficiency oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:572550 RFVT3-related riboflavin transporter deficiency oboInOwl:hasDbXref ICD10:G12.1 semapv:UnspecifiedMatching Orphanet:572550 RFVT3-related riboflavin transporter deficiency oboInOwl:hasDbXref OMIM:614707 semapv:UnspecifiedMatching +Orphanet:572550 RFVT3-related riboflavin transporter deficiency oboInOwl:hasDbXref UMLS:C3553538 semapv:UnspecifiedMatching Orphanet:572550 RFVT3-related riboflavin transporter deficiency oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching @@ -43279,6 +43042,7 @@ Orphanet:576242 Intermediate atrioventricular septal defect oboInOwl:hasDbXref i Orphanet:576278 SATB2-associated syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:576278 SATB2-associated syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:576278 SATB2-associated syndrome oboInOwl:hasDbXref MedDRA:10083270 semapv:UnspecifiedMatching +Orphanet:576278 SATB2-associated syndrome oboInOwl:hasDbXref OMIM:612313 semapv:UnspecifiedMatching Orphanet:576278 SATB2-associated syndrome oboInOwl:hasDbXref UMLS:C5243581 semapv:UnspecifiedMatching Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:576283 SATB2-associated syndrome due to a pathogenic variant oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -43335,8 +43099,8 @@ Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref OMIM:607015 semapv: Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref OMIM:607016 semapv:UnspecifiedMatching Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref UMLS:C0023786 semapv:UnspecifiedMatching Orphanet:579 Mucopolysaccharidosis type 1 oboInOwl:hasDbXref icd11:5C56.30 semapv:UnspecifiedMatching -Orphanet:58 Alexander disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -Orphanet:58 Alexander disease oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching +Orphanet:58 Alexander disease oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:58 Alexander disease oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching Orphanet:58 Alexander disease oboInOwl:hasDbXref MESH:D038261 semapv:UnspecifiedMatching Orphanet:58 Alexander disease oboInOwl:hasDbXref MedDRA:10083059 semapv:UnspecifiedMatching Orphanet:58 Alexander disease oboInOwl:hasDbXref OMIM:203450 semapv:UnspecifiedMatching @@ -43432,8 +43196,6 @@ Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref OMIM:253000 semapv: Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref OMIM:253010 semapv:UnspecifiedMatching Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref UMLS:C0026707 semapv:UnspecifiedMatching Orphanet:582 Mucopolysaccharidosis type 4 oboInOwl:hasDbXref icd11:5C56.32 semapv:UnspecifiedMatching -Orphanet:58208 NON RARE IN EUROPE: Pericarditis oboInOwl:hasDbXref ICD10:I30 semapv:UnspecifiedMatching -Orphanet:58208 NON RARE IN EUROPE: Pericarditis oboInOwl:hasDbXref ICD10:I30 semapv:UnspecifiedMatching Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:583 Mucopolysaccharidosis type 6 oboInOwl:hasDbXref MESH:D009087 semapv:UnspecifiedMatching @@ -43484,6 +43246,9 @@ Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref MedDRA:10056893 sem Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref OMIM:253220 semapv:UnspecifiedMatching Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref UMLS:C0085132 semapv:UnspecifiedMatching Orphanet:584 Mucopolysaccharidosis type 7 oboInOwl:hasDbXref icd11:5C56.3Y semapv:UnspecifiedMatching +Orphanet:584317 ceramide transporter 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000113163 semapv:UnspecifiedMatching +Orphanet:584317 ceramide transporter 1 oboInOwl:hasDbXref OMIM:604677 semapv:UnspecifiedMatching +Orphanet:584317 ceramide transporter 1 oboInOwl:hasDbXref uniprot:Q9Y5P4 semapv:UnspecifiedMatching Orphanet:585 Multiple sulfatase deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:585 Multiple sulfatase deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:585 Multiple sulfatase deficiency oboInOwl:hasDbXref MESH:D052517 semapv:UnspecifiedMatching @@ -43520,6 +43285,7 @@ Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) oboInOwl:hasDbX Orphanet:585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref icd11:2A60.0 semapv:UnspecifiedMatching Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality oboInOwl:hasDbXref UMLS:C2698313 semapv:UnspecifiedMatching Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching Orphanet:585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) oboInOwl:hasDbXref UMLS:C5680319 semapv:UnspecifiedMatching @@ -43534,9 +43300,11 @@ Orphanet:585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) obo Orphanet:585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) oboInOwl:hasDbXref icd11:XH4KA2 semapv:UnspecifiedMatching Orphanet:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching Orphanet:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy oboInOwl:hasDbXref UMLS:C2698311 semapv:UnspecifiedMatching Orphanet:585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy oboInOwl:hasDbXref icd11:2A70.Y semapv:UnspecifiedMatching Orphanet:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching Orphanet:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching +Orphanet:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy oboInOwl:hasDbXref UMLS:C2698312 semapv:UnspecifiedMatching Orphanet:585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy oboInOwl:hasDbXref icd11:2A70.Y semapv:UnspecifiedMatching Orphanet:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching Orphanet:585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) oboInOwl:hasDbXref ICD10:C91.0 semapv:UnspecifiedMatching @@ -43595,13 +43363,10 @@ Orphanet:586548 methyltransferase 5, N6-adenosine oboInOwl:hasDbXref uniprot:Q9N Orphanet:586706 chromodomain helicase DNA binding protein 3 oboInOwl:hasDbXref ENSEMBL:ENSG00000170004 semapv:UnspecifiedMatching Orphanet:586706 chromodomain helicase DNA binding protein 3 oboInOwl:hasDbXref OMIM:602120 semapv:UnspecifiedMatching Orphanet:586706 chromodomain helicase DNA binding protein 3 oboInOwl:hasDbXref uniprot:Q12873 semapv:UnspecifiedMatching -Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref ICD10:L72.8 semapv:UnspecifiedMatching -Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref ICD10:L72.8 semapv:UnspecifiedMatching Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref MESH:D055653 semapv:UnspecifiedMatching Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref MedDRA:10063042 semapv:UnspecifiedMatching Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref OMIM:158320 semapv:UnspecifiedMatching Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref UMLS:C1321489 semapv:UnspecifiedMatching -Orphanet:587 Muir-Torre syndrome oboInOwl:hasDbXref icd11:2C31.1 semapv:UnspecifiedMatching Orphanet:587111 nucleolus and neural progenitor protein oboInOwl:hasDbXref ENSEMBL:ENSG00000163608 semapv:UnspecifiedMatching Orphanet:587111 nucleolus and neural progenitor protein oboInOwl:hasDbXref OMIM:617089 semapv:UnspecifiedMatching Orphanet:587111 nucleolus and neural progenitor protein oboInOwl:hasDbXref uniprot:Q6NW34 semapv:UnspecifiedMatching @@ -43782,7 +43547,6 @@ Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref ICD Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref MESH:C564992 semapv:UnspecifiedMatching Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref OMIM:136900 semapv:UnspecifiedMatching -Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref OMIM:264420 semapv:UnspecifiedMatching Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref UMLS:C1850938 semapv:UnspecifiedMatching Orphanet:59181 Sorsby pseudoinflammatory fundus dystrophy oboInOwl:hasDbXref icd11:9B61 semapv:UnspecifiedMatching Orphanet:592 Macrophagic myofasciitis oboInOwl:hasDbXref ICD10:M60.8 semapv:UnspecifiedMatching @@ -43816,12 +43580,6 @@ Orphanet:592869 Neuromyelitis optica spectrum disorder without anti-MOG and with Orphanet:592873 Acute transverse myelitis with anti-MOG antibodies oboInOwl:hasDbXref ICD10:G37.3 semapv:UnspecifiedMatching Orphanet:592873 Acute transverse myelitis with anti-MOG antibodies oboInOwl:hasDbXref ICD10:G37.3 semapv:UnspecifiedMatching Orphanet:592873 Acute transverse myelitis with anti-MOG antibodies oboInOwl:hasDbXref UMLS:C5680298 semapv:UnspecifiedMatching -Orphanet:592885 Isolated optic neuritis without anti-MOG antibodies oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching -Orphanet:592885 Isolated optic neuritis without anti-MOG antibodies oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching -Orphanet:592885 Isolated optic neuritis without anti-MOG antibodies oboInOwl:hasDbXref UMLS:C5680299 semapv:UnspecifiedMatching -Orphanet:592888 Isolated optic neuritis with anti-MOG antibodies oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching -Orphanet:592888 Isolated optic neuritis with anti-MOG antibodies oboInOwl:hasDbXref ICD10:H46 semapv:UnspecifiedMatching -Orphanet:592888 Isolated optic neuritis with anti-MOG antibodies oboInOwl:hasDbXref UMLS:C5680300 semapv:UnspecifiedMatching Orphanet:592894 Acute disseminated encephalomyelitis with anti-MOG antibodies oboInOwl:hasDbXref ICD10:G04.0 semapv:UnspecifiedMatching Orphanet:592894 Acute disseminated encephalomyelitis with anti-MOG antibodies oboInOwl:hasDbXref ICD10:G04.0 semapv:UnspecifiedMatching Orphanet:592894 Acute disseminated encephalomyelitis with anti-MOG antibodies oboInOwl:hasDbXref UMLS:C5680301 semapv:UnspecifiedMatching @@ -43844,6 +43602,7 @@ Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome oboInOwl:hasD Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome oboInOwl:hasDbXref OMIM:607626 semapv:UnspecifiedMatching Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome oboInOwl:hasDbXref UMLS:C1843355 semapv:UnspecifiedMatching Orphanet:59303 Neonatal ichthyosis-sclerosing cholangitis syndrome oboInOwl:hasDbXref icd11:DB96.2Y semapv:UnspecifiedMatching +Orphanet:59305 Gestational trophoblastic neoplasm oboInOwl:hasDbXref MESH:D031901 semapv:UnspecifiedMatching Orphanet:59305 Gestational trophoblastic neoplasm oboInOwl:hasDbXref MedDRA:10061988 semapv:UnspecifiedMatching Orphanet:59305 Gestational trophoblastic neoplasm oboInOwl:hasDbXref UMLS:C1135868 semapv:UnspecifiedMatching Orphanet:59305 Gestational trophoblastic neoplasm oboInOwl:hasDbXref icd11:2C75.0 semapv:UnspecifiedMatching @@ -43860,6 +43619,9 @@ Orphanet:59315 Rhombencephalosynapsis oboInOwl:hasDbXref icd11:LA06.Y semapv:Uns Orphanet:594386 discs large MAGUK scaffold protein 4 oboInOwl:hasDbXref ENSEMBL:ENSG00000132535 semapv:UnspecifiedMatching Orphanet:594386 discs large MAGUK scaffold protein 4 oboInOwl:hasDbXref OMIM:602887 semapv:UnspecifiedMatching Orphanet:594386 discs large MAGUK scaffold protein 4 oboInOwl:hasDbXref uniprot:P78352 semapv:UnspecifiedMatching +Orphanet:594394 dedicator of cytokinesis 11 oboInOwl:hasDbXref ENSEMBL:ENSG00000147251 semapv:UnspecifiedMatching +Orphanet:594394 dedicator of cytokinesis 11 oboInOwl:hasDbXref OMIM:300681 semapv:UnspecifiedMatching +Orphanet:594394 dedicator of cytokinesis 11 oboInOwl:hasDbXref uniprot:Q5JSL3 semapv:UnspecifiedMatching Orphanet:594424 FCH and mu domain containing endocytic adaptor 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000130475 semapv:UnspecifiedMatching Orphanet:594424 FCH and mu domain containing endocytic adaptor 1 oboInOwl:hasDbXref OMIM:613437 semapv:UnspecifiedMatching Orphanet:594424 FCH and mu domain containing endocytic adaptor 1 oboInOwl:hasDbXref uniprot:O14526 semapv:UnspecifiedMatching @@ -43931,6 +43693,7 @@ Orphanet:596753 VEXAS syndrome oboInOwl:hasDbXref OMIM:301054 semapv:Unspecified Orphanet:596753 VEXAS syndrome oboInOwl:hasDbXref UMLS:C5435753 semapv:UnspecifiedMatching Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency oboInOwl:hasDbXref OMIM:618287 semapv:UnspecifiedMatching Orphanet:596759 Combined immunodeficiency due to RELA haploinsufficiency oboInOwl:hasDbXref UMLS:C5680288 semapv:UnspecifiedMatching Orphanet:596937 Portosinusoidal vascular disease oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:596937 Portosinusoidal vascular disease oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching @@ -43960,6 +43723,9 @@ Orphanet:597032 cell cycle associated protein 1 oboInOwl:hasDbXref uniprot:Q1444 Orphanet:597034 NME/NM23 family member 5 oboInOwl:hasDbXref ENSEMBL:ENSG00000112981 semapv:UnspecifiedMatching Orphanet:597034 NME/NM23 family member 5 oboInOwl:hasDbXref OMIM:603575 semapv:UnspecifiedMatching Orphanet:597034 NME/NM23 family member 5 oboInOwl:hasDbXref uniprot:P56597 semapv:UnspecifiedMatching +Orphanet:597042 ribosomal protein L13 oboInOwl:hasDbXref ENSEMBL:ENSG00000167526 semapv:UnspecifiedMatching +Orphanet:597042 ribosomal protein L13 oboInOwl:hasDbXref OMIM:113703 semapv:UnspecifiedMatching +Orphanet:597042 ribosomal protein L13 oboInOwl:hasDbXref uniprot:P26373 semapv:UnspecifiedMatching Orphanet:597201 TRIM22-related inflammatory bowel disease oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching Orphanet:597201 TRIM22-related inflammatory bowel disease oboInOwl:hasDbXref ICD10:K52.8 semapv:UnspecifiedMatching Orphanet:597201 TRIM22-related inflammatory bowel disease oboInOwl:hasDbXref UMLS:C5680271 semapv:UnspecifiedMatching @@ -44048,9 +43814,6 @@ Orphanet:599197 VPS37D subunit of ESCRT-I oboInOwl:hasDbXref uniprot:Q86XT2 sema Orphanet:599199 DnaJ heat shock protein family (Hsp40) member C30 oboInOwl:hasDbXref ENSEMBL:ENSG00000176410 semapv:UnspecifiedMatching Orphanet:599199 DnaJ heat shock protein family (Hsp40) member C30 oboInOwl:hasDbXref OMIM:618202 semapv:UnspecifiedMatching Orphanet:599199 DnaJ heat shock protein family (Hsp40) member C30 oboInOwl:hasDbXref uniprot:Q96LL9 semapv:UnspecifiedMatching -Orphanet:599201 BAF chromatin remodeling complex subunit BCL7B oboInOwl:hasDbXref ENSEMBL:ENSG00000106635 semapv:UnspecifiedMatching -Orphanet:599201 BAF chromatin remodeling complex subunit BCL7B oboInOwl:hasDbXref OMIM:605846 semapv:UnspecifiedMatching -Orphanet:599201 BAF chromatin remodeling complex subunit BCL7B oboInOwl:hasDbXref uniprot:Q9BQE9 semapv:UnspecifiedMatching Orphanet:599209 eukaryotic translation initiation factor 4H oboInOwl:hasDbXref ENSEMBL:ENSG00000106682 semapv:UnspecifiedMatching Orphanet:599209 eukaryotic translation initiation factor 4H oboInOwl:hasDbXref OMIM:603431 semapv:UnspecifiedMatching Orphanet:599209 eukaryotic translation initiation factor 4H oboInOwl:hasDbXref uniprot:Q15056 semapv:UnspecifiedMatching @@ -44171,6 +43934,9 @@ Orphanet:600016 ubiquitin associated protein 1 oboInOwl:hasDbXref uniprot:Q9NZ09 Orphanet:600062 mitogen-activated protein kinase 8 interacting protein 3 oboInOwl:hasDbXref ENSEMBL:ENSG00000138834 semapv:UnspecifiedMatching Orphanet:600062 mitogen-activated protein kinase 8 interacting protein 3 oboInOwl:hasDbXref OMIM:605431 semapv:UnspecifiedMatching Orphanet:600062 mitogen-activated protein kinase 8 interacting protein 3 oboInOwl:hasDbXref uniprot:Q9UPT6 semapv:UnspecifiedMatching +Orphanet:600070 ATPase family AAA domain containing 3C oboInOwl:hasDbXref ENSEMBL:ENSG00000215915 semapv:UnspecifiedMatching +Orphanet:600070 ATPase family AAA domain containing 3C oboInOwl:hasDbXref OMIM:617227 semapv:UnspecifiedMatching +Orphanet:600070 ATPase family AAA domain containing 3C oboInOwl:hasDbXref uniprot:Q5T2N8 semapv:UnspecifiedMatching Orphanet:600094 phosphatidylserine decarboxylase oboInOwl:hasDbXref ENSEMBL:ENSG00000241878 semapv:UnspecifiedMatching Orphanet:600094 phosphatidylserine decarboxylase oboInOwl:hasDbXref OMIM:612770 semapv:UnspecifiedMatching Orphanet:600094 phosphatidylserine decarboxylase oboInOwl:hasDbXref uniprot:Q9UG56 semapv:UnspecifiedMatching @@ -44217,6 +43983,7 @@ Orphanet:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref UMLS:C015591 Orphanet:60025 Pulmonary alveolar microlithiasis oboInOwl:hasDbXref icd11:CB06 semapv:UnspecifiedMatching Orphanet:60026 Pulmonary nodular lymphoid hyperplasia oboInOwl:hasDbXref ICD10:J98.4 semapv:UnspecifiedMatching Orphanet:60026 Pulmonary nodular lymphoid hyperplasia oboInOwl:hasDbXref ICD10:J98.4 semapv:UnspecifiedMatching +Orphanet:60026 Pulmonary nodular lymphoid hyperplasia oboInOwl:hasDbXref MedDRA:10077412 semapv:UnspecifiedMatching Orphanet:60026 Pulmonary nodular lymphoid hyperplasia oboInOwl:hasDbXref OMIM:178610 semapv:UnspecifiedMatching Orphanet:60026 Pulmonary nodular lymphoid hyperplasia oboInOwl:hasDbXref UMLS:C1334969 semapv:UnspecifiedMatching Orphanet:600279 GS homeobox 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000180613 semapv:UnspecifiedMatching @@ -44225,6 +43992,9 @@ Orphanet:600279 GS homeobox 2 oboInOwl:hasDbXref uniprot:Q9BZM3 semapv:Unspecifi Orphanet:600291 H4 clustered histone 3 oboInOwl:hasDbXref ENSEMBL:ENSG00000197061 semapv:UnspecifiedMatching Orphanet:600291 H4 clustered histone 3 oboInOwl:hasDbXref OMIM:602827 semapv:UnspecifiedMatching Orphanet:600291 H4 clustered histone 3 oboInOwl:hasDbXref uniprot:P62805 semapv:UnspecifiedMatching +Orphanet:600297 heterogeneous nuclear ribonucleoprotein R oboInOwl:hasDbXref ENSEMBL:ENSG00000125944 semapv:UnspecifiedMatching +Orphanet:600297 heterogeneous nuclear ribonucleoprotein R oboInOwl:hasDbXref OMIM:607201 semapv:UnspecifiedMatching +Orphanet:600297 heterogeneous nuclear ribonucleoprotein R oboInOwl:hasDbXref uniprot:O43390 semapv:UnspecifiedMatching Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching Orphanet:60030 Loeys-Dietz syndrome oboInOwl:hasDbXref MESH:D055947 semapv:UnspecifiedMatching @@ -44256,11 +44026,11 @@ Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref OMIM:613021 semapv:U Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref OMIM:613071 semapv:UnspecifiedMatching Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref UMLS:C0339985 semapv:UnspecifiedMatching Orphanet:60033 Idiopathic bronchiectasis oboInOwl:hasDbXref icd11:CA24 semapv:UnspecifiedMatching -Orphanet:60039 Pudendal neuralgia oboInOwl:hasDbXref ICD10:G57.8 semapv:UnspecifiedMatching -Orphanet:60039 Pudendal neuralgia oboInOwl:hasDbXref ICD10:G57.8 semapv:UnspecifiedMatching -Orphanet:60039 Pudendal neuralgia oboInOwl:hasDbXref MESH:D060545 semapv:UnspecifiedMatching -Orphanet:60039 Pudendal neuralgia oboInOwl:hasDbXref UMLS:C1997249 semapv:UnspecifiedMatching -Orphanet:60039 Pudendal neuralgia oboInOwl:hasDbXref icd11:GA34.0Y semapv:UnspecifiedMatching +Orphanet:60039 Pudendal nerve entrapment syndrome oboInOwl:hasDbXref ICD10:G57.8 semapv:UnspecifiedMatching +Orphanet:60039 Pudendal nerve entrapment syndrome oboInOwl:hasDbXref ICD10:G57.8 semapv:UnspecifiedMatching +Orphanet:60039 Pudendal nerve entrapment syndrome oboInOwl:hasDbXref MESH:D060545 semapv:UnspecifiedMatching +Orphanet:60039 Pudendal nerve entrapment syndrome oboInOwl:hasDbXref UMLS:C1997249 semapv:UnspecifiedMatching +Orphanet:60039 Pudendal nerve entrapment syndrome oboInOwl:hasDbXref icd11:GA34.0Y semapv:UnspecifiedMatching Orphanet:600395 netrin G2 oboInOwl:hasDbXref ENSEMBL:ENSG00000196358 semapv:UnspecifiedMatching Orphanet:600395 netrin G2 oboInOwl:hasDbXref OMIM:618689 semapv:UnspecifiedMatching Orphanet:600395 netrin G2 oboInOwl:hasDbXref uniprot:Q96CW9 semapv:UnspecifiedMatching @@ -44277,9 +44047,15 @@ Orphanet:60041 Congenital heart block oboInOwl:hasDbXref MedDRA:10019263 semapv: Orphanet:60041 Congenital heart block oboInOwl:hasDbXref OMIM:234700 semapv:UnspecifiedMatching Orphanet:60041 Congenital heart block oboInOwl:hasDbXref UMLS:C0149530 semapv:UnspecifiedMatching Orphanet:60041 Congenital heart block oboInOwl:hasDbXref icd11:LA8Y semapv:UnspecifiedMatching +Orphanet:600435 POU class 3 homeobox 3 oboInOwl:hasDbXref ENSEMBL:ENSG00000198914 semapv:UnspecifiedMatching +Orphanet:600435 POU class 3 homeobox 3 oboInOwl:hasDbXref OMIM:602480 semapv:UnspecifiedMatching +Orphanet:600435 POU class 3 homeobox 3 oboInOwl:hasDbXref uniprot:P20264 semapv:UnspecifiedMatching Orphanet:600439 protein phosphatase 2 catalytic subunit alpha oboInOwl:hasDbXref ENSEMBL:ENSG00000113575 semapv:UnspecifiedMatching Orphanet:600439 protein phosphatase 2 catalytic subunit alpha oboInOwl:hasDbXref OMIM:176915 semapv:UnspecifiedMatching Orphanet:600439 protein phosphatase 2 catalytic subunit alpha oboInOwl:hasDbXref uniprot:P67775 semapv:UnspecifiedMatching +Orphanet:600449 proline rich 12 oboInOwl:hasDbXref ENSEMBL:ENSG00000126464 semapv:UnspecifiedMatching +Orphanet:600449 proline rich 12 oboInOwl:hasDbXref OMIM:616633 semapv:UnspecifiedMatching +Orphanet:600449 proline rich 12 oboInOwl:hasDbXref uniprot:Q9ULL5 semapv:UnspecifiedMatching Orphanet:600475 SR-related CTD associated factor 4 oboInOwl:hasDbXref ENSEMBL:ENSG00000156304 semapv:UnspecifiedMatching Orphanet:600475 SR-related CTD associated factor 4 oboInOwl:hasDbXref OMIM:616023 semapv:UnspecifiedMatching Orphanet:600475 SR-related CTD associated factor 4 oboInOwl:hasDbXref uniprot:O95104 semapv:UnspecifiedMatching @@ -44292,6 +44068,9 @@ Orphanet:600533 ubiquitin protein ligase E3 component n-recognin 7 oboInOwl:hasD Orphanet:600541 WASP family member 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000112290 semapv:UnspecifiedMatching Orphanet:600541 WASP family member 1 oboInOwl:hasDbXref OMIM:605035 semapv:UnspecifiedMatching Orphanet:600541 WASP family member 1 oboInOwl:hasDbXref uniprot:Q92558 semapv:UnspecifiedMatching +Orphanet:600559 zinc finger protein 142 oboInOwl:hasDbXref ENSEMBL:ENSG00000115568 semapv:UnspecifiedMatching +Orphanet:600559 zinc finger protein 142 oboInOwl:hasDbXref OMIM:604083 semapv:UnspecifiedMatching +Orphanet:600559 zinc finger protein 142 oboInOwl:hasDbXref uniprot:P52746 semapv:UnspecifiedMatching Orphanet:600577 G protein subunit beta 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000172354 semapv:UnspecifiedMatching Orphanet:600577 G protein subunit beta 2 oboInOwl:hasDbXref OMIM:139390 semapv:UnspecifiedMatching Orphanet:600577 G protein subunit beta 2 oboInOwl:hasDbXref uniprot:P62879 semapv:UnspecifiedMatching @@ -44328,6 +44107,12 @@ Orphanet:600832 Legionella infection oboInOwl:hasDbXref ICD10:A48.1 semapv:Unspe Orphanet:600832 Legionella infection oboInOwl:hasDbXref MESH:D007876 semapv:UnspecifiedMatching Orphanet:600832 Legionella infection oboInOwl:hasDbXref UMLS:C0023240 semapv:UnspecifiedMatching Orphanet:600832 Legionella infection oboInOwl:hasDbXref icd11:1C19 semapv:UnspecifiedMatching +Orphanet:600904 Sp6 transcription factor oboInOwl:hasDbXref ENSEMBL:ENSG00000189120 semapv:UnspecifiedMatching +Orphanet:600904 Sp6 transcription factor oboInOwl:hasDbXref OMIM:608613 semapv:UnspecifiedMatching +Orphanet:600904 Sp6 transcription factor oboInOwl:hasDbXref uniprot:Q3SY56 semapv:UnspecifiedMatching +Orphanet:600936 ubiquitin like with PHD and ring finger domains 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000276043 semapv:UnspecifiedMatching +Orphanet:600936 ubiquitin like with PHD and ring finger domains 1 oboInOwl:hasDbXref OMIM:607990 semapv:UnspecifiedMatching +Orphanet:600936 ubiquitin like with PHD and ring finger domains 1 oboInOwl:hasDbXref uniprot:Q96T88 semapv:UnspecifiedMatching Orphanet:600946 fibroblast growth factor 13 oboInOwl:hasDbXref ENSEMBL:ENSG00000129682 semapv:UnspecifiedMatching Orphanet:600946 fibroblast growth factor 13 oboInOwl:hasDbXref OMIM:300070 semapv:UnspecifiedMatching Orphanet:600946 fibroblast growth factor 13 oboInOwl:hasDbXref uniprot:Q92913 semapv:UnspecifiedMatching @@ -44448,9 +44233,9 @@ Orphanet:602 GNE myopathy oboInOwl:hasDbXref icd11:8C75 semapv:UnspecifiedMatchi Orphanet:602220 serpin family A member 12 oboInOwl:hasDbXref ENSEMBL:ENSG00000165953 semapv:UnspecifiedMatching Orphanet:602220 serpin family A member 12 oboInOwl:hasDbXref OMIM:617471 semapv:UnspecifiedMatching Orphanet:602220 serpin family A member 12 oboInOwl:hasDbXref uniprot:Q8IW75 semapv:UnspecifiedMatching -Orphanet:602223 chibby family member 1, beta catenin antagonist oboInOwl:hasDbXref ENSEMBL:ENSG00000100211 semapv:UnspecifiedMatching -Orphanet:602223 chibby family member 1, beta catenin antagonist oboInOwl:hasDbXref OMIM:607757 semapv:UnspecifiedMatching -Orphanet:602223 chibby family member 1, beta catenin antagonist oboInOwl:hasDbXref uniprot:Q9Y3M2 semapv:UnspecifiedMatching +Orphanet:602223 chibby 1, beta catenin antagonist oboInOwl:hasDbXref ENSEMBL:ENSG00000100211 semapv:UnspecifiedMatching +Orphanet:602223 chibby 1, beta catenin antagonist oboInOwl:hasDbXref OMIM:607757 semapv:UnspecifiedMatching +Orphanet:602223 chibby 1, beta catenin antagonist oboInOwl:hasDbXref uniprot:Q9Y3M2 semapv:UnspecifiedMatching Orphanet:602226 metaxin 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000128654 semapv:UnspecifiedMatching Orphanet:602226 metaxin 2 oboInOwl:hasDbXref OMIM:608555 semapv:UnspecifiedMatching Orphanet:602226 metaxin 2 oboInOwl:hasDbXref uniprot:O75431 semapv:UnspecifiedMatching @@ -44700,8 +44485,8 @@ Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref OMIM:160800 semapv:Un Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref OMIM:255700 semapv:UnspecifiedMatching Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref UMLS:C0027127 semapv:UnspecifiedMatching Orphanet:614 Thomsen and Becker disease oboInOwl:hasDbXref icd11:8C71.2 semapv:UnspecifiedMatching -Orphanet:614200 'RNA, U7 small nuclear 1' oboInOwl:hasDbXref ENSEMBL:ENSG00000238923 semapv:UnspecifiedMatching -Orphanet:614200 'RNA, U7 small nuclear 1' oboInOwl:hasDbXref OMIM:617876 semapv:UnspecifiedMatching +Orphanet:614200 RNA, U7 small nuclear 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000238923 semapv:UnspecifiedMatching +Orphanet:614200 RNA, U7 small nuclear 1 oboInOwl:hasDbXref OMIM:617876 semapv:UnspecifiedMatching Orphanet:614208 ubiquitin like modifier activating enzyme 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000126261 semapv:UnspecifiedMatching Orphanet:614208 ubiquitin like modifier activating enzyme 2 oboInOwl:hasDbXref OMIM:613295 semapv:UnspecifiedMatching Orphanet:614208 ubiquitin like modifier activating enzyme 2 oboInOwl:hasDbXref uniprot:Q9UBT2 semapv:UnspecifiedMatching @@ -44729,7 +44514,7 @@ Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome oboInOwl:has Orphanet:615938 Spastic paraparesis-cataracts-speech delay syndrome oboInOwl:hasDbXref UMLS:C5543440 semapv:UnspecifiedMatching Orphanet:615943 Granuloma faciale oboInOwl:hasDbXref ICD10:L92.2 semapv:UnspecifiedMatching Orphanet:615943 Granuloma faciale oboInOwl:hasDbXref ICD10:L92.2 semapv:UnspecifiedMatching -Orphanet:615943 Granuloma faciale oboInOwl:hasDbXref MedDRA:C0239495 semapv:UnspecifiedMatching +Orphanet:615943 Granuloma faciale oboInOwl:hasDbXref MedDRA:10063944 semapv:UnspecifiedMatching Orphanet:615943 Granuloma faciale oboInOwl:hasDbXref UMLS:C0239495 semapv:UnspecifiedMatching Orphanet:615943 Granuloma faciale oboInOwl:hasDbXref icd11:EF40.20 semapv:UnspecifiedMatching Orphanet:615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching @@ -44820,6 +44605,7 @@ Orphanet:617910 Conjunctival malignant melanoma oboInOwl:hasDbXref UMLS:C0346360 Orphanet:617910 Conjunctival malignant melanoma oboInOwl:hasDbXref icd11:2D00.0 semapv:UnspecifiedMatching Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia oboInOwl:hasDbXref ICD10:J84.8 semapv:UnspecifiedMatching +Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia oboInOwl:hasDbXref MedDRA:10082591 semapv:UnspecifiedMatching Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia oboInOwl:hasDbXref UMLS:C1333291 semapv:UnspecifiedMatching Orphanet:617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia oboInOwl:hasDbXref icd11:2F00.Y semapv:UnspecifiedMatching Orphanet:617919 F12-associated cold autoinflammatory syndrome oboInOwl:hasDbXref ICD10:L50.2 semapv:UnspecifiedMatching @@ -44827,6 +44613,7 @@ Orphanet:617919 F12-associated cold autoinflammatory syndrome oboInOwl:hasDbXref Orphanet:617919 F12-associated cold autoinflammatory syndrome oboInOwl:hasDbXref UMLS:C5681829 semapv:UnspecifiedMatching Orphanet:617930 Hemophilia B Leyden oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching Orphanet:617930 Hemophilia B Leyden oboInOwl:hasDbXref ICD10:D67 semapv:UnspecifiedMatching +Orphanet:617930 Hemophilia B Leyden oboInOwl:hasDbXref MedDRA:10016077 semapv:UnspecifiedMatching Orphanet:617930 Hemophilia B Leyden oboInOwl:hasDbXref icd11:3B11.Y semapv:UnspecifiedMatching Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.0 semapv:UnspecifiedMatching Orphanet:618 Familial melanoma oboInOwl:hasDbXref ICD10:C43.0 semapv:UnspecifiedMatching @@ -44874,6 +44661,7 @@ Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disabili Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome oboInOwl:hasDbXref OMIM:617101 semapv:UnspecifiedMatching Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C4310833 semapv:UnspecifiedMatching +Orphanet:619238 Rare hereditary autoinflammatory disease oboInOwl:hasDbXref UMLS:C5816810 semapv:UnspecifiedMatching Orphanet:619249 Rare hereditary connective tissue disease oboInOwl:hasDbXref UMLS:C5681831 semapv:UnspecifiedMatching Orphanet:619284 Narcolepsy oboInOwl:hasDbXref MESH:D009290 semapv:UnspecifiedMatching Orphanet:619284 Narcolepsy oboInOwl:hasDbXref MedDRA:10028713 semapv:UnspecifiedMatching @@ -44881,20 +44669,20 @@ Orphanet:619284 Narcolepsy oboInOwl:hasDbXref UMLS:C0027404 semapv:UnspecifiedMa Orphanet:619340 Inherited hematologic cancer-predisposing syndrome oboInOwl:hasDbXref UMLS:C5681832 semapv:UnspecifiedMatching Orphanet:619360 NON RARE IN EUROPE: Isolated hereditary persistence of fetal hemoglobin oboInOwl:hasDbXref ICD10:D56.4 semapv:UnspecifiedMatching Orphanet:619360 NON RARE IN EUROPE: Isolated hereditary persistence of fetal hemoglobin oboInOwl:hasDbXref ICD10:D56.4 semapv:UnspecifiedMatching -Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 oboInOwl:hasDbXref ICD10:D76.1 semapv:UnspecifiedMatching -Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 oboInOwl:hasDbXref ICD10:D76.1 semapv:UnspecifiedMatching -Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 oboInOwl:hasDbXref UMLS:C5680418 semapv:UnspecifiedMatching +Orphanet:619363 NOCARH syndrome oboInOwl:hasDbXref ICD10:D76.1 semapv:UnspecifiedMatching +Orphanet:619363 NOCARH syndrome oboInOwl:hasDbXref ICD10:D76.1 semapv:UnspecifiedMatching +Orphanet:619363 NOCARH syndrome oboInOwl:hasDbXref UMLS:C5680418 semapv:UnspecifiedMatching Orphanet:619367 SAMD9L-associated autoinflammatory syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:619367 SAMD9L-associated autoinflammatory syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:619367 SAMD9L-associated autoinflammatory syndrome oboInOwl:hasDbXref UMLS:C5680414 semapv:UnspecifiedMatching -Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching -Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching -Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration oboInOwl:hasDbXref OMIM:618847 semapv:UnspecifiedMatching -Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration oboInOwl:hasDbXref UMLS:C5680413 semapv:UnspecifiedMatching -Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching -Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome oboInOwl:hasDbXref OMIM:619375 semapv:UnspecifiedMatching -Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome oboInOwl:hasDbXref UMLS:C5680416 semapv:UnspecifiedMatching +Orphanet:619941 Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching +Orphanet:619941 Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency oboInOwl:hasDbXref ICD10:D71 semapv:UnspecifiedMatching +Orphanet:619941 Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency oboInOwl:hasDbXref OMIM:618847 semapv:UnspecifiedMatching +Orphanet:619941 Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency oboInOwl:hasDbXref UMLS:C5680413 semapv:UnspecifiedMatching +Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency oboInOwl:hasDbXref OMIM:619375 semapv:UnspecifiedMatching +Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency oboInOwl:hasDbXref UMLS:C5680416 semapv:UnspecifiedMatching Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency oboInOwl:hasDbXref OMIM:618982 semapv:UnspecifiedMatching @@ -44911,8 +44699,6 @@ Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 oboInOwl Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 oboInOwl:hasDbXref OMIM:608099 semapv:UnspecifiedMatching Orphanet:62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 oboInOwl:hasDbXref icd11:8C70.41 semapv:UnspecifiedMatching -Orphanet:620 NON RARE IN EUROPE: Common mesentery oboInOwl:hasDbXref ICD10:Q43.3 semapv:UnspecifiedMatching -Orphanet:620 NON RARE IN EUROPE: Common mesentery oboInOwl:hasDbXref ICD10:Q43.3 semapv:UnspecifiedMatching Orphanet:620096 Non-syndromic unisutural craniosynostosis oboInOwl:hasDbXref UMLS:C5680403 semapv:UnspecifiedMatching Orphanet:620102 Non-syndromic unicoronal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching Orphanet:620102 Non-syndromic unicoronal craniosynostosis oboInOwl:hasDbXref ICD10:Q75.0 semapv:UnspecifiedMatching @@ -44963,11 +44749,13 @@ Orphanet:620217 Bartter syndrome type 1 oboInOwl:hasDbXref ICD10:E26.8 semapv:Un Orphanet:620217 Bartter syndrome type 1 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching Orphanet:620217 Bartter syndrome type 1 oboInOwl:hasDbXref MESH:C537652 semapv:UnspecifiedMatching Orphanet:620217 Bartter syndrome type 1 oboInOwl:hasDbXref OMIM:601678 semapv:UnspecifiedMatching +Orphanet:620217 Bartter syndrome type 1 oboInOwl:hasDbXref UMLS:C1866495 semapv:UnspecifiedMatching Orphanet:620217 Bartter syndrome type 1 oboInOwl:hasDbXref icd11:GB90.43 semapv:UnspecifiedMatching Orphanet:620220 Bartter syndrome type 2 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching Orphanet:620220 Bartter syndrome type 2 oboInOwl:hasDbXref ICD10:E26.8 semapv:UnspecifiedMatching Orphanet:620220 Bartter syndrome type 2 oboInOwl:hasDbXref MESH:C537651 semapv:UnspecifiedMatching Orphanet:620220 Bartter syndrome type 2 oboInOwl:hasDbXref OMIM:241200 semapv:UnspecifiedMatching +Orphanet:620220 Bartter syndrome type 2 oboInOwl:hasDbXref UMLS:C1855849 semapv:UnspecifiedMatching Orphanet:620220 Bartter syndrome type 2 oboInOwl:hasDbXref icd11:GB90.43 semapv:UnspecifiedMatching Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching Orphanet:620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome oboInOwl:hasDbXref ICD10:E83.4 semapv:UnspecifiedMatching @@ -45032,9 +44820,7 @@ Orphanet:622925 X-linked severe syndromic thoracic aortic aneurysm and dissectio Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia oboInOwl:hasDbXref UMLS:C5680412 semapv:UnspecifiedMatching -Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.5Y semapv:UnspecifiedMatching -Orphanet:623 NAME syndrome oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching -Orphanet:623 NAME syndrome oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching +Orphanet:622934 SBDS-related severe neonatal spondylometaphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.4 semapv:UnspecifiedMatching Orphanet:623615 Autoimmune limbic encephalitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:623615 Autoimmune limbic encephalitis oboInOwl:hasDbXref ICD10:G04.8 semapv:UnspecifiedMatching Orphanet:623615 Autoimmune limbic encephalitis oboInOwl:hasDbXref MESH:C531729 semapv:UnspecifiedMatching @@ -45092,14 +44878,13 @@ Orphanet:624259 Non-specific autoimmune cerebellar ataxia with characteristic an Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies oboInOwl:hasDbXref UMLS:C5576703 semapv:UnspecifiedMatching -Orphanet:625 NON RARE IN EUROPE: Atypical mole oboInOwl:hasDbXref ICD10:I78.1 semapv:UnspecifiedMatching -Orphanet:625 NON RARE IN EUROPE: Atypical mole oboInOwl:hasDbXref ICD10:I78.1 semapv:UnspecifiedMatching Orphanet:626 Large congenital melanocytic nevus oboInOwl:hasDbXref ICD10:D22.9 semapv:UnspecifiedMatching Orphanet:626 Large congenital melanocytic nevus oboInOwl:hasDbXref ICD10:D22.9 semapv:UnspecifiedMatching Orphanet:626 Large congenital melanocytic nevus oboInOwl:hasDbXref MedDRA:10072036 semapv:UnspecifiedMatching Orphanet:626 Large congenital melanocytic nevus oboInOwl:hasDbXref OMIM:137550 semapv:UnspecifiedMatching Orphanet:626 Large congenital melanocytic nevus oboInOwl:hasDbXref UMLS:C1842036 semapv:UnspecifiedMatching Orphanet:626 Large congenital melanocytic nevus oboInOwl:hasDbXref icd11:2F20.20 semapv:UnspecifiedMatching +Orphanet:626609 Rare andrological tumor oboInOwl:hasDbXref UMLS:C5816777 semapv:UnspecifiedMatching Orphanet:627 Nance-Horan syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:627 Nance-Horan syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:627 Nance-Horan syndrome oboInOwl:hasDbXref MESH:C538336 semapv:UnspecifiedMatching @@ -45355,11 +45140,10 @@ Orphanet:632603 Mesomelic dysplasia-digital anomalies-intellectual disability sy Orphanet:632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome oboInOwl:hasDbXref OMIM:619297 semapv:UnspecifiedMatching Orphanet:632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C5543317 semapv:UnspecifiedMatching -Orphanet:63261 HERNS syndrome oboInOwl:hasDbXref ICD10:I67.3 semapv:UnspecifiedMatching -Orphanet:63261 HERNS syndrome oboInOwl:hasDbXref ICD10:I67.3 semapv:UnspecifiedMatching Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis oboInOwl:hasDbXref OMIM:201750 semapv:UnspecifiedMatching +Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis oboInOwl:hasDbXref UMLS:C3150099 semapv:UnspecifiedMatching Orphanet:63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:63273 Distal myopathy with posterior leg and anterior hand involvement oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching @@ -45385,14 +45169,19 @@ Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short s Orphanet:633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome oboInOwl:hasDbXref UMLS:C5394263 semapv:UnspecifiedMatching Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:619080 semapv:UnspecifiedMatching +Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:619083 semapv:UnspecifiedMatching +Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref UMLS:C5816806 semapv:UnspecifiedMatching Orphanet:633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:619080 semapv:UnspecifiedMatching +Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome oboInOwl:hasDbXref UMLS:C5816804 semapv:UnspecifiedMatching Orphanet:633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref OMIM:619083 semapv:UnspecifiedMatching +Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref UMLS:C5816805 semapv:UnspecifiedMatching Orphanet:633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching Orphanet:633028 CPE-related Prader-Willi-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:633028 CPE-related Prader-Willi-like syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -45402,6 +45191,7 @@ Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndro Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndrome oboInOwl:hasDbXref UMLS:C5543241 semapv:UnspecifiedMatching Orphanet:633076 Split cord malformation, composite type oboInOwl:hasDbXref ICD10:Q06.2 semapv:UnspecifiedMatching Orphanet:633076 Split cord malformation, composite type oboInOwl:hasDbXref ICD10:Q06.2 semapv:UnspecifiedMatching +Orphanet:633076 Split cord malformation, composite type oboInOwl:hasDbXref UMLS:C5816809 semapv:UnspecifiedMatching Orphanet:633076 Split cord malformation, composite type oboInOwl:hasDbXref icd11:LA07.1 semapv:UnspecifiedMatching Orphanet:633099 PAICS deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching Orphanet:633099 PAICS deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching @@ -45409,6 +45199,7 @@ Orphanet:633099 PAICS deficiency oboInOwl:hasDbXref OMIM:619859 semapv:Unspecifi Orphanet:633099 PAICS deficiency oboInOwl:hasDbXref UMLS:C1291561 semapv:UnspecifiedMatching Orphanet:633124 Invasive scopulariopsis infection oboInOwl:hasDbXref ICD10:B48.7 semapv:UnspecifiedMatching Orphanet:633124 Invasive scopulariopsis infection oboInOwl:hasDbXref ICD10:B48.7 semapv:UnspecifiedMatching +Orphanet:633124 Invasive scopulariopsis infection oboInOwl:hasDbXref UMLS:C5816808 semapv:UnspecifiedMatching Orphanet:633205 COPI coat complex subunit beta 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000129083 semapv:UnspecifiedMatching Orphanet:633205 COPI coat complex subunit beta 1 oboInOwl:hasDbXref OMIM:600959 semapv:UnspecifiedMatching Orphanet:633205 COPI coat complex subunit beta 1 oboInOwl:hasDbXref uniprot:P53618 semapv:UnspecifiedMatching @@ -45417,8 +45208,10 @@ Orphanet:633208 carboxypeptidase E oboInOwl:hasDbXref OMIM:114855 semapv:Unspeci Orphanet:633208 carboxypeptidase E oboInOwl:hasDbXref uniprot:P16870 semapv:UnspecifiedMatching Orphanet:633211 Preaxial digit brachydactyly-webbed fingers oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:633211 Preaxial digit brachydactyly-webbed fingers oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -Orphanet:633228 Proximal femoral focal deficiency oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -Orphanet:633228 Proximal femoral focal deficiency oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:633211 Preaxial digit brachydactyly-webbed fingers oboInOwl:hasDbXref UMLS:C5816807 semapv:UnspecifiedMatching +Orphanet:633228 Isolated proximal femoral focal deficiency oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:633228 Isolated proximal femoral focal deficiency oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:633228 Isolated proximal femoral focal deficiency oboInOwl:hasDbXref UMLS:C0431996 semapv:UnspecifiedMatching Orphanet:634 Netherton syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:634 Netherton syndrome oboInOwl:hasDbXref ICD10:Q80.8 semapv:UnspecifiedMatching Orphanet:634 Netherton syndrome oboInOwl:hasDbXref MESH:D056770 semapv:UnspecifiedMatching @@ -45443,12 +45236,19 @@ Orphanet:63446 Acrocapitofemoral dysplasia oboInOwl:hasDbXref UMLS:C1843096 sema Orphanet:63446 Acrocapitofemoral dysplasia oboInOwl:hasDbXref icd11:LD24.8Y semapv:UnspecifiedMatching Orphanet:634461 Mosaic neurofibromatosis type 1 oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching Orphanet:634461 Mosaic neurofibromatosis type 1 oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:634461 Mosaic neurofibromatosis type 1 oboInOwl:hasDbXref UMLS:C5782097 semapv:UnspecifiedMatching +Orphanet:634461 Mosaic neurofibromatosis type 1 oboInOwl:hasDbXref icd11:LD2D.1Y semapv:UnspecifiedMatching Orphanet:634475 Mosaic NF2-related schwannomatosis oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching Orphanet:634475 Mosaic NF2-related schwannomatosis oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:634475 Mosaic NF2-related schwannomatosis oboInOwl:hasDbXref UMLS:C5816778 semapv:UnspecifiedMatching Orphanet:634492 Mosaic schwannomatosis oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching Orphanet:634492 Mosaic schwannomatosis oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:634492 Mosaic schwannomatosis oboInOwl:hasDbXref UMLS:C5816779 semapv:UnspecifiedMatching Orphanet:634511 Mosaic Legius syndrome oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching Orphanet:634511 Mosaic Legius syndrome oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching +Orphanet:634511 Mosaic Legius syndrome oboInOwl:hasDbXref UMLS:C5816780 semapv:UnspecifiedMatching +Orphanet:634511 Mosaic Legius syndrome oboInOwl:hasDbXref icd11:LD27.Y semapv:UnspecifiedMatching +Orphanet:634518 Neurofibromatosis/schwannomatosis oboInOwl:hasDbXref UMLS:C5816781 semapv:UnspecifiedMatching Orphanet:63454 Pattern dystrophy oboInOwl:hasDbXref MESH:C536309 semapv:UnspecifiedMatching Orphanet:63454 Pattern dystrophy oboInOwl:hasDbXref UMLS:C1868569 semapv:UnspecifiedMatching Orphanet:63455 Paraneoplastic pemphigus oboInOwl:hasDbXref ICD10:L10.8 semapv:UnspecifiedMatching @@ -45483,15 +45283,17 @@ Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome oboInOwl:hasDbXre Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome oboInOwl:hasDbXref OMIM:618343 semapv:UnspecifiedMatching Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome oboInOwl:hasDbXref UMLS:C5193159 semapv:UnspecifiedMatching -Orphanet:636945 Invasive Candidiasis oboInOwl:hasDbXref ICD10:B37.8 semapv:UnspecifiedMatching -Orphanet:636945 Invasive Candidiasis oboInOwl:hasDbXref ICD10:B37.8 semapv:UnspecifiedMatching -Orphanet:636945 Invasive Candidiasis oboInOwl:hasDbXref MESH:C536777 semapv:UnspecifiedMatching -Orphanet:636945 Invasive Candidiasis oboInOwl:hasDbXref UMLS:C0153252 semapv:UnspecifiedMatching +Orphanet:636945 Invasive candidiasis oboInOwl:hasDbXref ICD10:B37.8 semapv:UnspecifiedMatching +Orphanet:636945 Invasive candidiasis oboInOwl:hasDbXref ICD10:B37.8 semapv:UnspecifiedMatching +Orphanet:636945 Invasive candidiasis oboInOwl:hasDbXref MESH:C536777 semapv:UnspecifiedMatching +Orphanet:636945 Invasive candidiasis oboInOwl:hasDbXref UMLS:C0153252 semapv:UnspecifiedMatching +Orphanet:636945 Invasive candidiasis oboInOwl:hasDbXref icd11:1F23.3 semapv:UnspecifiedMatching Orphanet:636950 Glaucomatocyclitic crisis disease oboInOwl:hasDbXref ICD10:H40.4 semapv:UnspecifiedMatching Orphanet:636950 Glaucomatocyclitic crisis disease oboInOwl:hasDbXref ICD10:H40.4 semapv:UnspecifiedMatching Orphanet:636950 Glaucomatocyclitic crisis disease oboInOwl:hasDbXref UMLS:C0152138 semapv:UnspecifiedMatching Orphanet:636955 Endemic pemphigus foliaceus oboInOwl:hasDbXref ICD10:L10.3 semapv:UnspecifiedMatching Orphanet:636955 Endemic pemphigus foliaceus oboInOwl:hasDbXref ICD10:L10.3 semapv:UnspecifiedMatching +Orphanet:636955 Endemic pemphigus foliaceus oboInOwl:hasDbXref MESH:C535551 semapv:UnspecifiedMatching Orphanet:636955 Endemic pemphigus foliaceus oboInOwl:hasDbXref UMLS:C0263314 semapv:UnspecifiedMatching Orphanet:636955 Endemic pemphigus foliaceus oboInOwl:hasDbXref icd11:EB40.1 semapv:UnspecifiedMatching Orphanet:636965 Autosomal dominant myosin storage myopathy oboInOwl:hasDbXref ICD10:G72.8 semapv:UnspecifiedMatching @@ -45505,7 +45307,6 @@ Orphanet:636970 Autosomal recessive myosin storage myopathy oboInOwl:hasDbXref i Orphanet:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching Orphanet:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref ICD10:Q85.0 semapv:UnspecifiedMatching Orphanet:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref MESH:D016518 semapv:UnspecifiedMatching -Orphanet:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref MedDRA:10000523 semapv:UnspecifiedMatching Orphanet:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref OMIM:101000 semapv:UnspecifiedMatching Orphanet:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref UMLS:C0027832 semapv:UnspecifiedMatching Orphanet:637 Full NF2-related schwannomatosis oboInOwl:hasDbXref icd11:LD2D.11 semapv:UnspecifiedMatching @@ -45514,6 +45315,7 @@ Orphanet:637013 SMARCA2-related blepharophimosis-intellectual disability syndrom Orphanet:637013 SMARCA2-related blepharophimosis-intellectual disability syndrome oboInOwl:hasDbXref OMIM:619293 semapv:UnspecifiedMatching Orphanet:637051 Borna virus encephalitis oboInOwl:hasDbXref ICD10:A85.8 semapv:UnspecifiedMatching Orphanet:637051 Borna virus encephalitis oboInOwl:hasDbXref ICD10:A85.8 semapv:UnspecifiedMatching +Orphanet:637051 Borna virus encephalitis oboInOwl:hasDbXref UMLS:C5816783 semapv:UnspecifiedMatching Orphanet:637051 Borna virus encephalitis oboInOwl:hasDbXref icd11:1C80 semapv:UnspecifiedMatching Orphanet:637061 Isolated optic nerve hypoplasia oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:637061 Isolated optic nerve hypoplasia oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching @@ -45522,6 +45324,7 @@ Orphanet:637061 Isolated optic nerve hypoplasia oboInOwl:hasDbXref UMLS:C4510723 Orphanet:637061 Isolated optic nerve hypoplasia oboInOwl:hasDbXref icd11:LA13.70 semapv:UnspecifiedMatching Orphanet:637064 Isolated optic nerve aplasia oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:637064 Isolated optic nerve aplasia oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching +Orphanet:637064 Isolated optic nerve aplasia oboInOwl:hasDbXref UMLS:C5816782 semapv:UnspecifiedMatching Orphanet:637064 Isolated optic nerve aplasia oboInOwl:hasDbXref icd11:LA13.71 semapv:UnspecifiedMatching Orphanet:638 Neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:638 Neurofibromatosis-Noonan syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching @@ -45567,18 +45370,45 @@ Orphanet:641 Multifocal motor neuropathy oboInOwl:hasDbXref ICD10:G61.8 semapv:U Orphanet:641 Multifocal motor neuropathy oboInOwl:hasDbXref MedDRA:10065579 semapv:UnspecifiedMatching Orphanet:641 Multifocal motor neuropathy oboInOwl:hasDbXref UMLS:C0393847 semapv:UnspecifiedMatching Orphanet:641 Multifocal motor neuropathy oboInOwl:hasDbXref icd11:8C01.3 semapv:UnspecifiedMatching +Orphanet:641343 Imprinting disorders oboInOwl:hasDbXref MESH:D000096803 semapv:UnspecifiedMatching +Orphanet:641343 Imprinting disorders oboInOwl:hasDbXref UMLS:C5816793 semapv:UnspecifiedMatching +Orphanet:641350 Immunotherapy induced hypophysitis oboInOwl:hasDbXref ICD10:E23.1 semapv:UnspecifiedMatching +Orphanet:641350 Immunotherapy induced hypophysitis oboInOwl:hasDbXref ICD10:E23.1 semapv:UnspecifiedMatching +Orphanet:641350 Immunotherapy induced hypophysitis oboInOwl:hasDbXref UMLS:C5816794 semapv:UnspecifiedMatching +Orphanet:641353 Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:641353 Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching Orphanet:641353 Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome oboInOwl:hasDbXref OMIM:619026 semapv:UnspecifiedMatching +Orphanet:641353 Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome oboInOwl:hasDbXref UMLS:C5816791 semapv:UnspecifiedMatching +Orphanet:641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching +Orphanet:641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome oboInOwl:hasDbXref OMIM:619576 semapv:UnspecifiedMatching Orphanet:641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome oboInOwl:hasDbXref UMLS:C5562005 semapv:UnspecifiedMatching +Orphanet:641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency oboInOwl:hasDbXref ICD10:D82.4 semapv:UnspecifiedMatching +Orphanet:641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency oboInOwl:hasDbXref ICD10:D82.4 semapv:UnspecifiedMatching +Orphanet:641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency oboInOwl:hasDbXref OMIM:243700 semapv:UnspecifiedMatching +Orphanet:641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency oboInOwl:hasDbXref OMIM:615816 semapv:UnspecifiedMatching Orphanet:641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency oboInOwl:hasDbXref OMIM:618282 semapv:UnspecifiedMatching +Orphanet:641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency oboInOwl:hasDbXref OMIM:618523 semapv:UnspecifiedMatching +Orphanet:641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency oboInOwl:hasDbXref OMIM:618944 semapv:UnspecifiedMatching Orphanet:641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency oboInOwl:hasDbXref icd11:4A01.34 semapv:UnspecifiedMatching +Orphanet:641372 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) oboInOwl:hasDbXref UMLS:C5816790 semapv:UnspecifiedMatching Orphanet:641372 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) oboInOwl:hasDbXref icd11:2A70.Y semapv:UnspecifiedMatching +Orphanet:641375 B-lymphoblastic leukemia/lymphoma with t(17;19) oboInOwl:hasDbXref UMLS:C5816789 semapv:UnspecifiedMatching Orphanet:641375 B-lymphoblastic leukemia/lymphoma with t(17;19) oboInOwl:hasDbXref icd11:2A70.Y semapv:UnspecifiedMatching Orphanet:641378 exosome component 5 oboInOwl:hasDbXref ENSEMBL:ENSG00000077348 semapv:UnspecifiedMatching Orphanet:641378 exosome component 5 oboInOwl:hasDbXref OMIM:606492 semapv:UnspecifiedMatching Orphanet:641378 exosome component 5 oboInOwl:hasDbXref uniprot:Q9NQT4 semapv:UnspecifiedMatching +Orphanet:641380 PAPASH syndrome oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching +Orphanet:641380 PAPASH syndrome oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching +Orphanet:641380 PAPASH syndrome oboInOwl:hasDbXref UMLS:C5816787 semapv:UnspecifiedMatching Orphanet:641380 PAPASH syndrome oboInOwl:hasDbXref icd11:EB21 semapv:UnspecifiedMatching +Orphanet:641385 PASS syndrome oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching +Orphanet:641385 PASS syndrome oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching +Orphanet:641385 PASS syndrome oboInOwl:hasDbXref UMLS:C5816788 semapv:UnspecifiedMatching Orphanet:641385 PASS syndrome oboInOwl:hasDbXref icd11:EB21 semapv:UnspecifiedMatching +Orphanet:641390 PsAPASH syndrome oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching +Orphanet:641390 PsAPASH syndrome oboInOwl:hasDbXref ICD10:L88 semapv:UnspecifiedMatching +Orphanet:641390 PsAPASH syndrome oboInOwl:hasDbXref UMLS:C5816786 semapv:UnspecifiedMatching Orphanet:641390 PsAPASH syndrome oboInOwl:hasDbXref icd11:EB21 semapv:UnspecifiedMatching Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:A17.0+ semapv:UnspecifiedMatching Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:A17.0+ semapv:UnspecifiedMatching @@ -45594,6 +45424,7 @@ Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G07 Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G07* semapv:UnspecifiedMatching Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G63.0* semapv:UnspecifiedMatching Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref ICD10:G63.0* semapv:UnspecifiedMatching +Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref MESH:D020306 semapv:UnspecifiedMatching Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref UMLS:C0275904 semapv:UnspecifiedMatching Orphanet:641396 Central nervous system tuberculosis oboInOwl:hasDbXref icd11:1B11 semapv:UnspecifiedMatching Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.0 semapv:UnspecifiedMatching @@ -45612,30 +45443,53 @@ Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.6 sem Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.6 semapv:UnspecifiedMatching Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.8 semapv:UnspecifiedMatching Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref ICD10:F20.8 semapv:UnspecifiedMatching +Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref MESH:D012561 semapv:UnspecifiedMatching Orphanet:641496 Childhood-onset schizophrenia oboInOwl:hasDbXref UMLS:C0036346 semapv:UnspecifiedMatching +Orphanet:641613 Endogenous Cushing syndrome oboInOwl:hasDbXref UMLS:C5419158 semapv:UnspecifiedMatching +Orphanet:641829 Neonatal compartment syndrome oboInOwl:hasDbXref ICD10:P01.8 semapv:UnspecifiedMatching +Orphanet:641829 Neonatal compartment syndrome oboInOwl:hasDbXref ICD10:P01.8 semapv:UnspecifiedMatching +Orphanet:641829 Neonatal compartment syndrome oboInOwl:hasDbXref UMLS:C5782100 semapv:UnspecifiedMatching Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 oboInOwl:hasDbXref OMIM:256800 semapv:UnspecifiedMatching Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 oboInOwl:hasDbXref UMLS:C0020074 semapv:UnspecifiedMatching Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 oboInOwl:hasDbXref icd11:8C21.2 semapv:UnspecifiedMatching -Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching -Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type oboInOwl:hasDbXref OMIM:618395 semapv:UnspecifiedMatching -Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type oboInOwl:hasDbXref UMLS:C5193073 semapv:UnspecifiedMatching -Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:642071 Primary pulmonary vein stenosis oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:642071 Primary pulmonary vein stenosis oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:642071 Primary pulmonary vein stenosis oboInOwl:hasDbXref UMLS:C5816802 semapv:UnspecifiedMatching +Orphanet:642085 EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:642085 EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:642085 EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref OMIM:618395 semapv:UnspecifiedMatching +Orphanet:642085 EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref UMLS:C5193073 semapv:UnspecifiedMatching +Orphanet:642085 EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type oboInOwl:hasDbXref OMIM:271640 semapv:UnspecifiedMatching Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type oboInOwl:hasDbXref UMLS:C4017377 semapv:UnspecifiedMatching Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching +Orphanet:642671 Familial hyperaldosteronism type IV oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching +Orphanet:642671 Familial hyperaldosteronism type IV oboInOwl:hasDbXref ICD10:E26.0 semapv:UnspecifiedMatching Orphanet:642671 Familial hyperaldosteronism type IV oboInOwl:hasDbXref OMIM:617027 semapv:UnspecifiedMatching Orphanet:642671 Familial hyperaldosteronism type IV oboInOwl:hasDbXref UMLS:C3554373 semapv:UnspecifiedMatching +Orphanet:642675 CHD8 overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:642675 CHD8 overgrowth syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:642675 CHD8 overgrowth syndrome oboInOwl:hasDbXref OMIM:615032 semapv:UnspecifiedMatching +Orphanet:642675 CHD8 overgrowth syndrome oboInOwl:hasDbXref UMLS:C5816801 semapv:UnspecifiedMatching +Orphanet:642691 Fragile X-associated primary ovarian insufficiency oboInOwl:hasDbXref ICD10:E28.3 semapv:UnspecifiedMatching +Orphanet:642691 Fragile X-associated primary ovarian insufficiency oboInOwl:hasDbXref ICD10:E28.3 semapv:UnspecifiedMatching Orphanet:642691 Fragile X-associated primary ovarian insufficiency oboInOwl:hasDbXref OMIM:311360 semapv:UnspecifiedMatching +Orphanet:642747 PUM1-related cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching +Orphanet:642747 PUM1-related cerebellar ataxia oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:642747 PUM1-related cerebellar ataxia oboInOwl:hasDbXref OMIM:617931 semapv:UnspecifiedMatching +Orphanet:642747 PUM1-related cerebellar ataxia oboInOwl:hasDbXref UMLS:C5816800 semapv:UnspecifiedMatching Orphanet:642747 PUM1-related cerebellar ataxia oboInOwl:hasDbXref icd11:8A03.1Y semapv:UnspecifiedMatching +Orphanet:642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation oboInOwl:hasDbXref OMIM:617537 semapv:UnspecifiedMatching Orphanet:642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation oboInOwl:hasDbXref UMLS:C4479637 semapv:UnspecifiedMatching +Orphanet:642788 Cushing syndrome due to cortisol-producing adrenocortical adenoma oboInOwl:hasDbXref ICD10:E24.8 semapv:UnspecifiedMatching +Orphanet:642788 Cushing syndrome due to cortisol-producing adrenocortical adenoma oboInOwl:hasDbXref ICD10:E24.8 semapv:UnspecifiedMatching +Orphanet:642788 Cushing syndrome due to cortisol-producing adrenocortical adenoma oboInOwl:hasDbXref UMLS:C5816799 semapv:UnspecifiedMatching Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref ICD10:G40.3 semapv:UnspecifiedMatching Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:600131 semapv:UnspecifiedMatching @@ -45645,8 +45499,16 @@ Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:611942 semapv: Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref OMIM:612269 semapv:UnspecifiedMatching Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref UMLS:C4281785 semapv:UnspecifiedMatching Orphanet:64280 Childhood absence epilepsy oboInOwl:hasDbXref icd11:8A61.21 semapv:UnspecifiedMatching +Orphanet:642945 Perrault syndrome type 1 oboInOwl:hasDbXref UMLS:C5816798 semapv:UnspecifiedMatching +Orphanet:642954 Autosomal recessive ataxia due to PEX16 deficiency oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:642954 Autosomal recessive ataxia due to PEX16 deficiency oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:642954 Autosomal recessive ataxia due to PEX16 deficiency oboInOwl:hasDbXref UMLS:C5816797 semapv:UnspecifiedMatching Orphanet:642954 Autosomal recessive ataxia due to PEX16 deficiency oboInOwl:hasDbXref icd11:8A03.1Y semapv:UnspecifiedMatching +Orphanet:642965 Autosomal recessive ataxia due to PEX2 deficiency oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:642965 Autosomal recessive ataxia due to PEX2 deficiency oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:642965 Autosomal recessive ataxia due to PEX2 deficiency oboInOwl:hasDbXref UMLS:C5816796 semapv:UnspecifiedMatching Orphanet:642965 Autosomal recessive ataxia due to PEX2 deficiency oboInOwl:hasDbXref icd11:8A03.1Y semapv:UnspecifiedMatching +Orphanet:642976 Perrault syndrome type 2 oboInOwl:hasDbXref UMLS:C5816795 semapv:UnspecifiedMatching Orphanet:643 Giant axonal neuropathy oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:643 Giant axonal neuropathy oboInOwl:hasDbXref ICD10:G60.8 semapv:UnspecifiedMatching Orphanet:643 Giant axonal neuropathy oboInOwl:hasDbXref MESH:D056768 semapv:UnspecifiedMatching @@ -45656,9 +45518,14 @@ Orphanet:643 Giant axonal neuropathy oboInOwl:hasDbXref icd11:8C2Y semapv:Unspec Orphanet:643093 membrane integral NOTCH2 associated receptor 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000186367 semapv:UnspecifiedMatching Orphanet:643093 membrane integral NOTCH2 associated receptor 2 oboInOwl:hasDbXref OMIM:620215 semapv:UnspecifiedMatching Orphanet:643093 membrane integral NOTCH2 associated receptor 2 oboInOwl:hasDbXref uniprot:P59773 semapv:UnspecifiedMatching +Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome oboInOwl:hasDbXref OMIM:617602 semapv:UnspecifiedMatching -Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome oboInOwl:hasDbXref UMLS:C4539857 semapv:UnspecifiedMatching +Orphanet:643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome oboInOwl:hasDbXref UMLS:C5816735 semapv:UnspecifiedMatching Orphanet:643538 Hao-Fountain syndrome due to USP7 mutation oboInOwl:hasDbXref OMIM:616863 semapv:UnspecifiedMatching +Orphanet:643538 Hao-Fountain syndrome due to USP7 mutation oboInOwl:hasDbXref UMLS:C5816734 semapv:UnspecifiedMatching +Orphanet:643549 Hao-Fountain syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:643549 Hao-Fountain syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:643549 Hao-Fountain syndrome oboInOwl:hasDbXref OMIM:616863 semapv:UnspecifiedMatching Orphanet:643549 Hao-Fountain syndrome oboInOwl:hasDbXref UMLS:C5393908 semapv:UnspecifiedMatching Orphanet:643584 ribosomal protein L8 oboInOwl:hasDbXref ENSEMBL:ENSG00000161016 semapv:UnspecifiedMatching @@ -45671,17 +45538,78 @@ Orphanet:644 NARP syndrome oboInOwl:hasDbXref MedDRA:10062940 semapv:Unspecified Orphanet:644 NARP syndrome oboInOwl:hasDbXref OMIM:551500 semapv:UnspecifiedMatching Orphanet:644 NARP syndrome oboInOwl:hasDbXref UMLS:C1328349 semapv:UnspecifiedMatching Orphanet:644 NARP syndrome oboInOwl:hasDbXref icd11:8C73.1 semapv:UnspecifiedMatching -Orphanet:645188 Spinal dermal sinus oboInOwl:hasDbXref UMLS:C0011599 semapv:UnspecifiedMatching +Orphanet:645188 Spinal dermal sinus oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching +Orphanet:645188 Spinal dermal sinus oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching +Orphanet:645188 Spinal dermal sinus oboInOwl:hasDbXref UMLS:C5706141 semapv:UnspecifiedMatching +Orphanet:645193 Dysraphism with stalk oboInOwl:hasDbXref UMLS:C5816733 semapv:UnspecifiedMatching +Orphanet:645196 Limited dorsal myeloschisis oboInOwl:hasDbXref UMLS:C5781237 semapv:UnspecifiedMatching Orphanet:645202 Closed spinal dysraphism oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching Orphanet:645202 Closed spinal dysraphism oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching +Orphanet:645202 Closed spinal dysraphism oboInOwl:hasDbXref MESH:D016136 semapv:UnspecifiedMatching Orphanet:645202 Closed spinal dysraphism oboInOwl:hasDbXref MedDRA:10041525 semapv:UnspecifiedMatching Orphanet:645202 Closed spinal dysraphism oboInOwl:hasDbXref UMLS:C0080174 semapv:UnspecifiedMatching Orphanet:645202 Closed spinal dysraphism oboInOwl:hasDbXref icd11:LB73.0 semapv:UnspecifiedMatching +Orphanet:645270 Open spinal dysraphism with a posterior meningocele oboInOwl:hasDbXref UMLS:C5816732 semapv:UnspecifiedMatching +Orphanet:645273 Dysraphic spinal cord lipoma oboInOwl:hasDbXref UMLS:C5816731 semapv:UnspecifiedMatching +Orphanet:645276 Spinal cord lipoma oboInOwl:hasDbXref MedDRA:10064898 semapv:UnspecifiedMatching Orphanet:645276 Spinal cord lipoma oboInOwl:hasDbXref UMLS:C0347446 semapv:UnspecifiedMatching -Orphanet:645322 Isolated transitional filum lipoma oboInOwl:hasDbXref UMLS:C4751188 semapv:UnspecifiedMatching +Orphanet:645279 Fibrolipomatous filum anomaly oboInOwl:hasDbXref UMLS:C5816812 semapv:UnspecifiedMatching +Orphanet:645282 Anomaly of the filum oboInOwl:hasDbXref UMLS:C5816730 semapv:UnspecifiedMatching +Orphanet:645285 Chaotic conus spinal cord lipoma oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching +Orphanet:645285 Chaotic conus spinal cord lipoma oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching +Orphanet:645285 Chaotic conus spinal cord lipoma oboInOwl:hasDbXref UMLS:C5816729 semapv:UnspecifiedMatching +Orphanet:645288 Terminal extramedullary conus spinal cord lipoma oboInOwl:hasDbXref UMLS:C5816727 semapv:UnspecifiedMatching +Orphanet:645291 Transitional extramedullary conus spinal cord lipoma oboInOwl:hasDbXref UMLS:C5816728 semapv:UnspecifiedMatching +Orphanet:645294 Posterior extramedullary conus spinal cord lipoma oboInOwl:hasDbXref UMLS:C5816725 semapv:UnspecifiedMatching +Orphanet:645297 Extramedullary conus spinal cord lipoma oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching +Orphanet:645297 Extramedullary conus spinal cord lipoma oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching +Orphanet:645297 Extramedullary conus spinal cord lipoma oboInOwl:hasDbXref UMLS:C5816726 semapv:UnspecifiedMatching +Orphanet:645300 Lipomatous non-saccular limited dorsal myeloschisis oboInOwl:hasDbXref UMLS:C5816723 semapv:UnspecifiedMatching +Orphanet:645310 Fibroneural non-saccular limited dorsal myeloschisis oboInOwl:hasDbXref UMLS:C5816724 semapv:UnspecifiedMatching +Orphanet:645319 Saccular spinal dysraphism with a stalk to the dome oboInOwl:hasDbXref UMLS:C5816721 semapv:UnspecifiedMatching +Orphanet:645322 Isolated transitional filum lipoma oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching +Orphanet:645322 Isolated transitional filum lipoma oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching +Orphanet:645322 Isolated transitional filum lipoma oboInOwl:hasDbXref UMLS:C5816722 semapv:UnspecifiedMatching +Orphanet:645325 Isolated filum lipoma oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching +Orphanet:645325 Isolated filum lipoma oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching +Orphanet:645325 Isolated filum lipoma oboInOwl:hasDbXref UMLS:C5816720 semapv:UnspecifiedMatching +Orphanet:645334 Retained medullary cord oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching +Orphanet:645334 Retained medullary cord oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching +Orphanet:645334 Retained medullary cord oboInOwl:hasDbXref UMLS:C5816811 semapv:UnspecifiedMatching +Orphanet:645337 Terminal myelocystocele oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching +Orphanet:645337 Terminal myelocystocele oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching +Orphanet:645337 Terminal myelocystocele oboInOwl:hasDbXref UMLS:C5816718 semapv:UnspecifiedMatching +Orphanet:645340 Non-terminal myelocystocele oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching +Orphanet:645340 Non-terminal myelocystocele oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching +Orphanet:645340 Non-terminal myelocystocele oboInOwl:hasDbXref UMLS:C5816719 semapv:UnspecifiedMatching +Orphanet:645343 Non-saccular limited dorsal myeloschisis oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching +Orphanet:645343 Non-saccular limited dorsal myeloschisis oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching +Orphanet:645343 Non-saccular limited dorsal myeloschisis oboInOwl:hasDbXref UMLS:C5816717 semapv:UnspecifiedMatching +Orphanet:645350 Segmental arterial mediolysis oboInOwl:hasDbXref ICD10:I77.8 semapv:UnspecifiedMatching +Orphanet:645350 Segmental arterial mediolysis oboInOwl:hasDbXref ICD10:I77.8 semapv:UnspecifiedMatching Orphanet:645350 Segmental arterial mediolysis oboInOwl:hasDbXref MedDRA:10086467 semapv:UnspecifiedMatching +Orphanet:645350 Segmental arterial mediolysis oboInOwl:hasDbXref UMLS:C4517096 semapv:UnspecifiedMatching +Orphanet:645350 Segmental arterial mediolysis oboInOwl:hasDbXref icd11:BD52.0 semapv:UnspecifiedMatching +Orphanet:645354 Saccular limited dorsal myeloschisis oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching +Orphanet:645354 Saccular limited dorsal myeloschisis oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching +Orphanet:645354 Saccular limited dorsal myeloschisis oboInOwl:hasDbXref UMLS:C5816715 semapv:UnspecifiedMatching +Orphanet:645359 Intramedullary non-dysraphic spinal cord lipoma oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching +Orphanet:645359 Intramedullary non-dysraphic spinal cord lipoma oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching +Orphanet:645359 Intramedullary non-dysraphic spinal cord lipoma oboInOwl:hasDbXref UMLS:C5816716 semapv:UnspecifiedMatching +Orphanet:645362 Dorsal spinal cord lipoma oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching +Orphanet:645362 Dorsal spinal cord lipoma oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching +Orphanet:645367 Conus spinal cord lipoma oboInOwl:hasDbXref UMLS:C5816712 semapv:UnspecifiedMatching +Orphanet:645378 Myelic limited dorsal malformation oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching +Orphanet:645378 Myelic limited dorsal malformation oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching +Orphanet:645378 Myelic limited dorsal malformation oboInOwl:hasDbXref UMLS:C5816714 semapv:UnspecifiedMatching +Orphanet:645383 True myelomeningocele oboInOwl:hasDbXref UMLS:C5816713 semapv:UnspecifiedMatching +Orphanet:645388 Hemi-myelomeningocele oboInOwl:hasDbXref UMLS:C5816710 semapv:UnspecifiedMatching +Orphanet:645393 Hemi-myeloschisis oboInOwl:hasDbXref UMLS:C5816709 semapv:UnspecifiedMatching +Orphanet:645398 Myeloschisis oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching +Orphanet:645398 Myeloschisis oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching Orphanet:645398 Myeloschisis oboInOwl:hasDbXref UMLS:C0266507 semapv:UnspecifiedMatching Orphanet:645398 Myeloschisis oboInOwl:hasDbXref icd11:LA02.Y semapv:UnspecifiedMatching +Orphanet:645401 True myeloschisis oboInOwl:hasDbXref UMLS:C5816711 semapv:UnspecifiedMatching Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:64542 Acrofacial dysostosis, Kennedy-Teebi type oboInOwl:hasDbXref UMLS:C4304094 semapv:UnspecifiedMatching @@ -45692,18 +45620,26 @@ Orphanet:64545 Benign idiopathic neonatal seizures oboInOwl:hasDbXref UMLS:C5575 Orphanet:64545 Benign idiopathic neonatal seizures oboInOwl:hasDbXref icd11:8A6Y semapv:UnspecifiedMatching Orphanet:645613 Classical dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:UnspecifiedMatching Orphanet:645613 Classical dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:UnspecifiedMatching +Orphanet:645613 Classical dermatomyositis oboInOwl:hasDbXref UMLS:C5816707 semapv:UnspecifiedMatching Orphanet:645613 Classical dermatomyositis oboInOwl:hasDbXref icd11:4A41.0 semapv:UnspecifiedMatching +Orphanet:645617 Amyopathic dermatomyositis oboInOwl:hasDbXref MESH:C538250 semapv:UnspecifiedMatching +Orphanet:645617 Amyopathic dermatomyositis oboInOwl:hasDbXref UMLS:C0406645 semapv:UnspecifiedMatching Orphanet:645626 Adermatopathic dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:UnspecifiedMatching Orphanet:645626 Adermatopathic dermatomyositis oboInOwl:hasDbXref ICD10:M33.1 semapv:UnspecifiedMatching +Orphanet:645626 Adermatopathic dermatomyositis oboInOwl:hasDbXref UMLS:C5816708 semapv:UnspecifiedMatching Orphanet:645626 Adermatopathic dermatomyositis oboInOwl:hasDbXref icd11:4A41.0 semapv:UnspecifiedMatching +Orphanet:645749 Congenital esophageal stenosis oboInOwl:hasDbXref ICD10:Q39.3 semapv:UnspecifiedMatching +Orphanet:645749 Congenital esophageal stenosis oboInOwl:hasDbXref ICD10:Q39.3 semapv:UnspecifiedMatching Orphanet:645749 Congenital esophageal stenosis oboInOwl:hasDbXref MedDRA:10010564 semapv:UnspecifiedMatching Orphanet:645749 Congenital esophageal stenosis oboInOwl:hasDbXref UMLS:C1963580 semapv:UnspecifiedMatching Orphanet:645749 Congenital esophageal stenosis oboInOwl:hasDbXref icd11:LB12.3 semapv:UnspecifiedMatching +Orphanet:645793 Spontaneous intestinal perforation oboInOwl:hasDbXref ICD10:K63.1 semapv:UnspecifiedMatching +Orphanet:645793 Spontaneous intestinal perforation oboInOwl:hasDbXref ICD10:K63.1 semapv:UnspecifiedMatching Orphanet:645793 Spontaneous intestinal perforation oboInOwl:hasDbXref UMLS:C3897004 semapv:UnspecifiedMatching Orphanet:645793 Spontaneous intestinal perforation oboInOwl:hasDbXref icd11:KB84 semapv:UnspecifiedMatching Orphanet:645807 Primary tuberculous lymphadenitis oboInOwl:hasDbXref ICD10:A18.2 semapv:UnspecifiedMatching Orphanet:645807 Primary tuberculous lymphadenitis oboInOwl:hasDbXref ICD10:A18.2 semapv:UnspecifiedMatching -Orphanet:645807 Primary tuberculous lymphadenitis oboInOwl:hasDbXref UMLS:C0041316 semapv:UnspecifiedMatching +Orphanet:645807 Primary tuberculous lymphadenitis oboInOwl:hasDbXref UMLS:C5816704 semapv:UnspecifiedMatching Orphanet:645807 Primary tuberculous lymphadenitis oboInOwl:hasDbXref icd11:1B12.6 semapv:UnspecifiedMatching Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.0 semapv:UnspecifiedMatching Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A15.0 semapv:UnspecifiedMatching @@ -45739,25 +45675,28 @@ Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.7 se Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.7 semapv:UnspecifiedMatching Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.8 semapv:UnspecifiedMatching Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref ICD10:A16.8 semapv:UnspecifiedMatching +Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref MESH:D014397 semapv:UnspecifiedMatching Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref UMLS:C0041327 semapv:UnspecifiedMatching Orphanet:645814 Primary pulmonary tuberculosis oboInOwl:hasDbXref icd11:1B10 semapv:UnspecifiedMatching Orphanet:645822 Primary bone and joint tuberculosis oboInOwl:hasDbXref ICD10:A18.0, semapv:UnspecifiedMatching Orphanet:645822 Primary bone and joint tuberculosis oboInOwl:hasDbXref ICD10:A18.0, semapv:UnspecifiedMatching -Orphanet:645822 Primary bone and joint tuberculosis oboInOwl:hasDbXref UMLS:C0041324 semapv:UnspecifiedMatching +Orphanet:645822 Primary bone and joint tuberculosis oboInOwl:hasDbXref UMLS:C5816705 semapv:UnspecifiedMatching Orphanet:645822 Primary bone and joint tuberculosis oboInOwl:hasDbXref icd11:1B12.4 semapv:UnspecifiedMatching Orphanet:645849 Primary cutaneous tuberculosis oboInOwl:hasDbXref ICD10:A18.4 semapv:UnspecifiedMatching Orphanet:645849 Primary cutaneous tuberculosis oboInOwl:hasDbXref ICD10:A18.4 semapv:UnspecifiedMatching -Orphanet:645849 Primary cutaneous tuberculosis oboInOwl:hasDbXref UMLS:C0041309 semapv:UnspecifiedMatching +Orphanet:645849 Primary cutaneous tuberculosis oboInOwl:hasDbXref UMLS:C5816706 semapv:UnspecifiedMatching Orphanet:645849 Primary cutaneous tuberculosis oboInOwl:hasDbXref icd11:1B12.8 semapv:UnspecifiedMatching Orphanet:645854 Multifocal tuberculosis oboInOwl:hasDbXref ICD10:A18.8 semapv:UnspecifiedMatching Orphanet:645854 Multifocal tuberculosis oboInOwl:hasDbXref ICD10:A18.8 semapv:UnspecifiedMatching +Orphanet:645854 Multifocal tuberculosis oboInOwl:hasDbXref UMLS:C5816701 semapv:UnspecifiedMatching Orphanet:645854 Multifocal tuberculosis oboInOwl:hasDbXref icd11:1B12.Y semapv:UnspecifiedMatching Orphanet:645859 Primary tuberculosis of the digestive system oboInOwl:hasDbXref ICD10:A18.3 semapv:UnspecifiedMatching Orphanet:645859 Primary tuberculosis of the digestive system oboInOwl:hasDbXref ICD10:A18.3 semapv:UnspecifiedMatching -Orphanet:645859 Primary tuberculosis of the digestive system oboInOwl:hasDbXref UMLS:C4543803 semapv:UnspecifiedMatching +Orphanet:645859 Primary tuberculosis of the digestive system oboInOwl:hasDbXref UMLS:C5816702 semapv:UnspecifiedMatching Orphanet:645859 Primary tuberculosis of the digestive system oboInOwl:hasDbXref icd11:1B12.7 semapv:UnspecifiedMatching Orphanet:645874 Primary genito-urinary tuberculosis oboInOwl:hasDbXref ICD10:A18.1 semapv:UnspecifiedMatching Orphanet:645874 Primary genito-urinary tuberculosis oboInOwl:hasDbXref ICD10:A18.1 semapv:UnspecifiedMatching +Orphanet:645874 Primary genito-urinary tuberculosis oboInOwl:hasDbXref MESH:D014401 semapv:UnspecifiedMatching Orphanet:645874 Primary genito-urinary tuberculosis oboInOwl:hasDbXref UMLS:C0041333 semapv:UnspecifiedMatching Orphanet:645874 Primary genito-urinary tuberculosis oboInOwl:hasDbXref icd11:1B12.5 semapv:UnspecifiedMatching Orphanet:646 Niemann-Pick disease type C oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching @@ -45769,27 +45708,34 @@ Orphanet:646 Niemann-Pick disease type C oboInOwl:hasDbXref UMLS:C0220756 semapv Orphanet:646 Niemann-Pick disease type C oboInOwl:hasDbXref icd11:5C56.0Y semapv:UnspecifiedMatching Orphanet:646098 Collagen VI-related congenital muscular dystrophy oboInOwl:hasDbXref OMIM:158810 semapv:UnspecifiedMatching Orphanet:646098 Collagen VI-related congenital muscular dystrophy oboInOwl:hasDbXref OMIM:254090 semapv:UnspecifiedMatching +Orphanet:646098 Collagen VI-related congenital muscular dystrophy oboInOwl:hasDbXref UMLS:C5816703 semapv:UnspecifiedMatching Orphanet:646113 Intermediate collagen VI-related muscular dystrophy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:646113 Intermediate collagen VI-related muscular dystrophy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching Orphanet:646113 Intermediate collagen VI-related muscular dystrophy oboInOwl:hasDbXref OMIM:158810 semapv:UnspecifiedMatching Orphanet:646113 Intermediate collagen VI-related muscular dystrophy oboInOwl:hasDbXref OMIM:254090 semapv:UnspecifiedMatching +Orphanet:646113 Intermediate collagen VI-related muscular dystrophy oboInOwl:hasDbXref UMLS:C5816698 semapv:UnspecifiedMatching Orphanet:646113 Intermediate collagen VI-related muscular dystrophy oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching Orphanet:646136 Dysplastic cortical hyperostosis, Al-Gazali type oboInOwl:hasDbXref OMIM:601356 semapv:UnspecifiedMatching +Orphanet:646136 Dysplastic cortical hyperostosis, Al-Gazali type oboInOwl:hasDbXref UMLS:C5816699 semapv:UnspecifiedMatching +Orphanet:646139 Dysplastic cortical hyperostosis oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching +Orphanet:646139 Dysplastic cortical hyperostosis oboInOwl:hasDbXref ICD10:M85.8 semapv:UnspecifiedMatching Orphanet:646139 Dysplastic cortical hyperostosis oboInOwl:hasDbXref UMLS:C5190839 semapv:UnspecifiedMatching Orphanet:646139 Dysplastic cortical hyperostosis oboInOwl:hasDbXref icd11:LD24.1Y semapv:UnspecifiedMatching -Orphanet:646278 CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:617360 semapv:UnspecifiedMatching -Orphanet:646278 CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome oboInOwl:hasDbXref UMLS:C4479246 semapv:UnspecifiedMatching +Orphanet:646278 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:646278 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:646278 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome oboInOwl:hasDbXref OMIM:617360 semapv:UnspecifiedMatching +Orphanet:646278 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome oboInOwl:hasDbXref UMLS:C5816700 semapv:UnspecifiedMatching Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref ICD10:H49.8 semapv:UnspecifiedMatching Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref ICD10:H49.8 semapv:UnspecifiedMatching Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref MESH:D020333 semapv:UnspecifiedMatching Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref MedDRA:10051526 semapv:UnspecifiedMatching Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref UMLS:C0040381 semapv:UnspecifiedMatching Orphanet:64686 Tolosa-Hunt syndrome oboInOwl:hasDbXref icd11:8A85 semapv:UnspecifiedMatching -Orphanet:64692 Oroya fever oboInOwl:hasDbXref ICD10:A44.0 semapv:UnspecifiedMatching -Orphanet:64692 Oroya fever oboInOwl:hasDbXref ICD10:A44.0 semapv:UnspecifiedMatching -Orphanet:64692 Oroya fever oboInOwl:hasDbXref MESH:D001474 semapv:UnspecifiedMatching -Orphanet:64692 Oroya fever oboInOwl:hasDbXref UMLS:C0029307 semapv:UnspecifiedMatching -Orphanet:64692 Oroya fever oboInOwl:hasDbXref icd11:1C11.00 semapv:UnspecifiedMatching +Orphanet:64692 Bartonella bacilliformis infection oboInOwl:hasDbXref ICD10:A44.0 semapv:UnspecifiedMatching +Orphanet:64692 Bartonella bacilliformis infection oboInOwl:hasDbXref ICD10:A44.0 semapv:UnspecifiedMatching +Orphanet:64692 Bartonella bacilliformis infection oboInOwl:hasDbXref MESH:D001474 semapv:UnspecifiedMatching +Orphanet:64692 Bartonella bacilliformis infection oboInOwl:hasDbXref UMLS:C0029307 semapv:UnspecifiedMatching +Orphanet:64692 Bartonella bacilliformis infection oboInOwl:hasDbXref icd11:1C11.0 semapv:UnspecifiedMatching Orphanet:64694 Trench fever oboInOwl:hasDbXref ICD10:A79.0 semapv:UnspecifiedMatching Orphanet:64694 Trench fever oboInOwl:hasDbXref ICD10:A79.0 semapv:UnspecifiedMatching Orphanet:64694 Trench fever oboInOwl:hasDbXref MESH:D014205 semapv:UnspecifiedMatching @@ -45827,8 +45773,6 @@ Orphanet:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref MedDRA:10033 Orphanet:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref OMIM:608115 semapv:UnspecifiedMatching Orphanet:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref UMLS:C0085083 semapv:UnspecifiedMatching Orphanet:64739 Ovarian hyperstimulation syndrome oboInOwl:hasDbXref icd11:GA32.0 semapv:UnspecifiedMatching -Orphanet:64740 NON RARE IN EUROPE: Recurrent acute pancreatitis oboInOwl:hasDbXref ICD10:K85 semapv:UnspecifiedMatching -Orphanet:64740 NON RARE IN EUROPE: Recurrent acute pancreatitis oboInOwl:hasDbXref ICD10:K85 semapv:UnspecifiedMatching Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching Orphanet:64741 Pulmonary blastoma oboInOwl:hasDbXref ICD10:C34.2 semapv:UnspecifiedMatching @@ -45876,6 +45820,7 @@ Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy oboInOwl:has Orphanet:64745 Pruritic urticarial papules and plaques of pregnancy oboInOwl:hasDbXref icd11:JA65.12 semapv:UnspecifiedMatching Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref UMLS:C5548211 semapv:UnspecifiedMatching Orphanet:64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching +Orphanet:64747 X-linked Charcot-Marie-Tooth disease oboInOwl:hasDbXref UMLS:C4551551 semapv:UnspecifiedMatching Orphanet:64747 X-linked Charcot-Marie-Tooth disease oboInOwl:hasDbXref icd11:8C20.0 semapv:UnspecifiedMatching Orphanet:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching Orphanet:64748 Dejerine-Sottas syndrome oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching @@ -45911,31 +45856,66 @@ Orphanet:64755 Becker nevus syndrome oboInOwl:hasDbXref MESH:C565735 semapv:Unsp Orphanet:64755 Becker nevus syndrome oboInOwl:hasDbXref OMIM:604919 semapv:UnspecifiedMatching Orphanet:64755 Becker nevus syndrome oboInOwl:hasDbXref UMLS:C1858042 semapv:UnspecifiedMatching Orphanet:64755 Becker nevus syndrome oboInOwl:hasDbXref icd11:LC02 semapv:UnspecifiedMatching +Orphanet:647667 Mandibuloacral dysplasia associated to MTX2 oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:647667 Mandibuloacral dysplasia associated to MTX2 oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:647667 Mandibuloacral dysplasia associated to MTX2 oboInOwl:hasDbXref OMIM:619127 semapv:UnspecifiedMatching Orphanet:647667 Mandibuloacral dysplasia associated to MTX2 oboInOwl:hasDbXref UMLS:C5436867 semapv:UnspecifiedMatching +Orphanet:647676 Multiple epiphyseal dysplasia type 7 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching +Orphanet:647676 Multiple epiphyseal dysplasia type 7 oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:647676 Multiple epiphyseal dysplasia type 7 oboInOwl:hasDbXref OMIM:617719 semapv:UnspecifiedMatching Orphanet:647676 Multiple epiphyseal dysplasia type 7 oboInOwl:hasDbXref UMLS:C4540251 semapv:UnspecifiedMatching +Orphanet:647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome oboInOwl:hasDbXref OMIM:600775 semapv:UnspecifiedMatching -Orphanet:647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome oboInOwl:hasDbXref UMLS:C3806917 semapv:UnspecifiedMatching -Orphanet:647772 Isolated primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref UMLS:C4304832 semapv:UnspecifiedMatching +Orphanet:647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome oboInOwl:hasDbXref UMLS:C5816752 semapv:UnspecifiedMatching +Orphanet:647758 Adrenal Cushing syndrome oboInOwl:hasDbXref UMLS:C0342443 semapv:UnspecifiedMatching +Orphanet:647768 Rare adrenocortical nodular disease with Cushing syndrome as a major feature oboInOwl:hasDbXref UMLS:C5816751 semapv:UnspecifiedMatching +Orphanet:647772 Isolated primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref ICD10:E24.8 semapv:UnspecifiedMatching +Orphanet:647772 Isolated primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref ICD10:E24.8 semapv:UnspecifiedMatching +Orphanet:647772 Isolated primary pigmented nodular adrenocortical disease oboInOwl:hasDbXref UMLS:C5816750 semapv:UnspecifiedMatching +Orphanet:647782 Isolated micronodular adrenocortical disease oboInOwl:hasDbXref ICD10:E24.8 semapv:UnspecifiedMatching +Orphanet:647782 Isolated micronodular adrenocortical disease oboInOwl:hasDbXref ICD10:E24.8 semapv:UnspecifiedMatching +Orphanet:647782 Isolated micronodular adrenocortical disease oboInOwl:hasDbXref UMLS:C5816756 semapv:UnspecifiedMatching +Orphanet:647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching +Orphanet:647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome oboInOwl:hasDbXref OMIM:617804 semapv:UnspecifiedMatching -Orphanet:647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome oboInOwl:hasDbXref UMLS:C4540496 semapv:UnspecifiedMatching -Orphanet:647794 Isolated persistent urogenital sinus oboInOwl:hasDbXref UMLS:C0266363 semapv:UnspecifiedMatching +Orphanet:647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome oboInOwl:hasDbXref UMLS:C5816755 semapv:UnspecifiedMatching +Orphanet:647794 Isolated persistent urogenital sinus oboInOwl:hasDbXref ICD10:Q52.8 semapv:UnspecifiedMatching +Orphanet:647794 Isolated persistent urogenital sinus oboInOwl:hasDbXref ICD10:Q52.8 semapv:UnspecifiedMatching +Orphanet:647794 Isolated persistent urogenital sinus oboInOwl:hasDbXref UMLS:C5816754 semapv:UnspecifiedMatching +Orphanet:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome oboInOwl:hasDbXref OMIM:616521 semapv:UnspecifiedMatching -Orphanet:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome oboInOwl:hasDbXref UMLS:C4225296 semapv:UnspecifiedMatching +Orphanet:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome oboInOwl:hasDbXref UMLS:C5816753 semapv:UnspecifiedMatching +Orphanet:647804 Combined immunodeficiency due to FCHO1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:647804 Combined immunodeficiency due to FCHO1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:647804 Combined immunodeficiency due to FCHO1 deficiency oboInOwl:hasDbXref OMIM:619164 semapv:UnspecifiedMatching -Orphanet:647804 Combined immunodeficiency due to FCHO1 deficiency oboInOwl:hasDbXref UMLS:C5543004 semapv:UnspecifiedMatching +Orphanet:647804 Combined immunodeficiency due to FCHO1 deficiency oboInOwl:hasDbXref UMLS:C5816748 semapv:UnspecifiedMatching Orphanet:647809 potassium inwardly rectifying channel subfamily J member 3 oboInOwl:hasDbXref ENSEMBL:ENSG00000162989 semapv:UnspecifiedMatching Orphanet:647809 potassium inwardly rectifying channel subfamily J member 3 oboInOwl:hasDbXref OMIM:601534 semapv:UnspecifiedMatching Orphanet:647809 potassium inwardly rectifying channel subfamily J member 3 oboInOwl:hasDbXref uniprot:P48549 semapv:UnspecifiedMatching +Orphanet:647811 Cardiac-urogenital syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:647811 Cardiac-urogenital syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:647811 Cardiac-urogenital syndrome oboInOwl:hasDbXref OMIM:618280 semapv:UnspecifiedMatching Orphanet:647811 Cardiac-urogenital syndrome oboInOwl:hasDbXref UMLS:C4748946 semapv:UnspecifiedMatching -Orphanet:647815 Keratoendotheliitis fugax hereditaria oboInOwl:hasDbXref OMIM:148200 semapv:UnspecifiedMatching -Orphanet:647815 Keratoendotheliitis fugax hereditaria oboInOwl:hasDbXref UMLS:C1835697 semapv:UnspecifiedMatching -Orphanet:647823 Idiopathic pregnancy-associated osteoporosis oboInOwl:hasDbXref UMLS:C0410439 semapv:UnspecifiedMatching +Orphanet:647815 Keratitis fugax hereditaria oboInOwl:hasDbXref ICD10:H16.8 semapv:UnspecifiedMatching +Orphanet:647815 Keratitis fugax hereditaria oboInOwl:hasDbXref ICD10:H16.8 semapv:UnspecifiedMatching +Orphanet:647815 Keratitis fugax hereditaria oboInOwl:hasDbXref OMIM:148200 semapv:UnspecifiedMatching +Orphanet:647815 Keratitis fugax hereditaria oboInOwl:hasDbXref UMLS:C1835697 semapv:UnspecifiedMatching +Orphanet:647823 Idiopathic pregnancy-associated osteoporosis oboInOwl:hasDbXref ICD10:O26.8 semapv:UnspecifiedMatching +Orphanet:647823 Idiopathic pregnancy-associated osteoporosis oboInOwl:hasDbXref ICD10:O26.8 semapv:UnspecifiedMatching +Orphanet:647823 Idiopathic pregnancy-associated osteoporosis oboInOwl:hasDbXref UMLS:C5782297 semapv:UnspecifiedMatching +Orphanet:647823 Idiopathic pregnancy-associated osteoporosis oboInOwl:hasDbXref icd11:FB83.1Y semapv:UnspecifiedMatching +Orphanet:647834 SLC40A1-related hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:647834 SLC40A1-related hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching Orphanet:647834 SLC40A1-related hemochromatosis oboInOwl:hasDbXref OMIM:606069 semapv:UnspecifiedMatching +Orphanet:647834 SLC40A1-related hemochromatosis oboInOwl:hasDbXref UMLS:C5816749 semapv:UnspecifiedMatching +Orphanet:647916 Conjoined twins oboInOwl:hasDbXref ICD10:Q89.4 semapv:UnspecifiedMatching +Orphanet:647916 Conjoined twins oboInOwl:hasDbXref ICD10:Q89.4 semapv:UnspecifiedMatching +Orphanet:647916 Conjoined twins oboInOwl:hasDbXref MESH:D014428 semapv:UnspecifiedMatching Orphanet:647916 Conjoined twins oboInOwl:hasDbXref MedDRA:10010688 semapv:UnspecifiedMatching Orphanet:647916 Conjoined twins oboInOwl:hasDbXref UMLS:C0041428 semapv:UnspecifiedMatching +Orphanet:647916 Conjoined twins oboInOwl:hasDbXref icd11:LD2G semapv:UnspecifiedMatching Orphanet:648 Noonan syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:648 Noonan syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:648 Noonan syndrome oboInOwl:hasDbXref MESH:D009634 semapv:UnspecifiedMatching @@ -46004,10 +45984,34 @@ Orphanet:648287 Rho guanine nucleotide exchange factor 38 oboInOwl:hasDbXref uni Orphanet:648290 vascular endothelial zinc finger 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000136451 semapv:UnspecifiedMatching Orphanet:648290 vascular endothelial zinc finger 1 oboInOwl:hasDbXref OMIM:606747 semapv:UnspecifiedMatching Orphanet:648290 vascular endothelial zinc finger 1 oboInOwl:hasDbXref uniprot:Q14119 semapv:UnspecifiedMatching +Orphanet:648559 Rare scleritis oboInOwl:hasDbXref UMLS:C5816743 semapv:UnspecifiedMatching +Orphanet:648562 Ferroportin disease oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:648562 Ferroportin disease oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching Orphanet:648562 Ferroportin disease oboInOwl:hasDbXref OMIM:606069 semapv:UnspecifiedMatching -Orphanet:648581 Digenic hemochromatosis oboInOwl:hasDbXref UMLS:C3150862 semapv:UnspecifiedMatching +Orphanet:648569 Non-HFE-related hemochromatosis oboInOwl:hasDbXref UMLS:C5816745 semapv:UnspecifiedMatching +Orphanet:648581 Digenic hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:648581 Digenic hemochromatosis oboInOwl:hasDbXref ICD10:E83.1 semapv:UnspecifiedMatching +Orphanet:648581 Digenic hemochromatosis oboInOwl:hasDbXref UMLS:C5816744 semapv:UnspecifiedMatching +Orphanet:648665 Infectious scleritis oboInOwl:hasDbXref ICD10:H15.0 semapv:UnspecifiedMatching +Orphanet:648665 Infectious scleritis oboInOwl:hasDbXref ICD10:H15.0 semapv:UnspecifiedMatching +Orphanet:648665 Infectious scleritis oboInOwl:hasDbXref UMLS:C5816746 semapv:UnspecifiedMatching +Orphanet:648675 Idiopathic scleritis oboInOwl:hasDbXref ICD10:H15.0 semapv:UnspecifiedMatching +Orphanet:648675 Idiopathic scleritis oboInOwl:hasDbXref ICD10:H15.0 semapv:UnspecifiedMatching +Orphanet:648675 Idiopathic scleritis oboInOwl:hasDbXref UMLS:C5816747 semapv:UnspecifiedMatching +Orphanet:648681 Immune-mediated scleritis oboInOwl:hasDbXref ICD10:H15.0 semapv:UnspecifiedMatching +Orphanet:648681 Immune-mediated scleritis oboInOwl:hasDbXref ICD10:H15.0 semapv:UnspecifiedMatching Orphanet:648681 Immune-mediated scleritis oboInOwl:hasDbXref MedDRA:10087281 semapv:UnspecifiedMatching +Orphanet:648681 Immune-mediated scleritis oboInOwl:hasDbXref UMLS:C5578029 semapv:UnspecifiedMatching +Orphanet:648684 Central retinal artery occlusion oboInOwl:hasDbXref ICD10:H34.1 semapv:UnspecifiedMatching +Orphanet:648684 Central retinal artery occlusion oboInOwl:hasDbXref ICD10:H34.1 semapv:UnspecifiedMatching Orphanet:648684 Central retinal artery occlusion oboInOwl:hasDbXref UMLS:C0007688 semapv:UnspecifiedMatching +Orphanet:648684 Central retinal artery occlusion oboInOwl:hasDbXref icd11:9B74.0 semapv:UnspecifiedMatching +Orphanet:648919 Idiopathic catatonia oboInOwl:hasDbXref ICD10:F20.2 semapv:UnspecifiedMatching +Orphanet:648919 Idiopathic catatonia oboInOwl:hasDbXref ICD10:F20.2 semapv:UnspecifiedMatching +Orphanet:648919 Idiopathic catatonia oboInOwl:hasDbXref UMLS:C5816742 semapv:UnspecifiedMatching +Orphanet:648992 Non-syndromic bridging bronchus oboInOwl:hasDbXref ICD10:Q32.4 semapv:UnspecifiedMatching +Orphanet:648992 Non-syndromic bridging bronchus oboInOwl:hasDbXref ICD10:Q32.4 semapv:UnspecifiedMatching +Orphanet:648992 Non-syndromic bridging bronchus oboInOwl:hasDbXref UMLS:C5816737 semapv:UnspecifiedMatching Orphanet:649 Norrie disease oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:649 Norrie disease oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:649 Norrie disease oboInOwl:hasDbXref MESH:C537849 semapv:UnspecifiedMatching @@ -46015,7 +46019,14 @@ Orphanet:649 Norrie disease oboInOwl:hasDbXref MedDRA:10069760 semapv:Unspecifie Orphanet:649 Norrie disease oboInOwl:hasDbXref OMIM:310600 semapv:UnspecifiedMatching Orphanet:649 Norrie disease oboInOwl:hasDbXref UMLS:C0266526 semapv:UnspecifiedMatching Orphanet:649 Norrie disease oboInOwl:hasDbXref icd11:LD21.Y semapv:UnspecifiedMatching -Orphanet:649029 Isolated left bronchial isomerism oboInOwl:hasDbXref UMLS:C3164781 semapv:UnspecifiedMatching +Orphanet:649010 Non-syndromic congenital bronchial atresia oboInOwl:hasDbXref ICD10:Q32.4 semapv:UnspecifiedMatching +Orphanet:649010 Non-syndromic congenital bronchial atresia oboInOwl:hasDbXref ICD10:Q32.4 semapv:UnspecifiedMatching +Orphanet:649010 Non-syndromic congenital bronchial atresia oboInOwl:hasDbXref UMLS:C5816738 semapv:UnspecifiedMatching +Orphanet:649014 Bronchial malformation oboInOwl:hasDbXref UMLS:C5816739 semapv:UnspecifiedMatching +Orphanet:649017 Rare adrenocortical nodular disease oboInOwl:hasDbXref UMLS:C5816740 semapv:UnspecifiedMatching +Orphanet:649029 Isolated left bronchial isomerism oboInOwl:hasDbXref ICD10:Q32.4 semapv:UnspecifiedMatching +Orphanet:649029 Isolated left bronchial isomerism oboInOwl:hasDbXref ICD10:Q32.4 semapv:UnspecifiedMatching +Orphanet:649029 Isolated left bronchial isomerism oboInOwl:hasDbXref UMLS:C5816741 semapv:UnspecifiedMatching Orphanet:649843 LDL receptor related protein 12 oboInOwl:hasDbXref ENSEMBL:ENSG00000147650 semapv:UnspecifiedMatching Orphanet:649843 LDL receptor related protein 12 oboInOwl:hasDbXref OMIM:618299 semapv:UnspecifiedMatching Orphanet:649843 LDL receptor related protein 12 oboInOwl:hasDbXref uniprot:Q9Y561 semapv:UnspecifiedMatching @@ -46031,6 +46042,7 @@ Orphanet:649879 diphthamide biosynthesis 2 oboInOwl:hasDbXref uniprot:Q9BQC3 sem Orphanet:649920 NUAK family kinase 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000163545 semapv:UnspecifiedMatching Orphanet:649920 NUAK family kinase 2 oboInOwl:hasDbXref OMIM:608131 semapv:UnspecifiedMatching Orphanet:649920 NUAK family kinase 2 oboInOwl:hasDbXref uniprot:Q9H093 semapv:UnspecifiedMatching +Orphanet:649929 Central precocious puberty in male oboInOwl:hasDbXref UMLS:C5816736 semapv:UnspecifiedMatching Orphanet:649959 ribosomal protein L3 like oboInOwl:hasDbXref ENSEMBL:ENSG00000140986 semapv:UnspecifiedMatching Orphanet:649959 ribosomal protein L3 like oboInOwl:hasDbXref OMIM:617416 semapv:UnspecifiedMatching Orphanet:649959 ribosomal protein L3 like oboInOwl:hasDbXref uniprot:Q92901 semapv:UnspecifiedMatching @@ -46082,9 +46094,9 @@ Orphanet:650045 telomere repeat binding bouquet formation protein 1 oboInOwl:has Orphanet:650047 telomere repeat binding bouquet formation protein 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000167014 semapv:UnspecifiedMatching Orphanet:650047 telomere repeat binding bouquet formation protein 2 oboInOwl:hasDbXref OMIM:617131 semapv:UnspecifiedMatching Orphanet:650047 telomere repeat binding bouquet formation protein 2 oboInOwl:hasDbXref uniprot:Q8NHR7 semapv:UnspecifiedMatching -Orphanet:650049 Mov10 like RISC complex RNA helicase 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000073146 semapv:UnspecifiedMatching -Orphanet:650049 Mov10 like RISC complex RNA helicase 1 oboInOwl:hasDbXref OMIM:605794 semapv:UnspecifiedMatching -Orphanet:650049 Mov10 like RISC complex RNA helicase 1 oboInOwl:hasDbXref uniprot:Q9BXT6 semapv:UnspecifiedMatching +Orphanet:650049 Mov10 like RNA helicase 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000073146 semapv:UnspecifiedMatching +Orphanet:650049 Mov10 like RNA helicase 1 oboInOwl:hasDbXref OMIM:605794 semapv:UnspecifiedMatching +Orphanet:650049 Mov10 like RNA helicase 1 oboInOwl:hasDbXref uniprot:Q9BXT6 semapv:UnspecifiedMatching Orphanet:650051 F-box protein 43 oboInOwl:hasDbXref ENSEMBL:ENSG00000156509 semapv:UnspecifiedMatching Orphanet:650051 F-box protein 43 oboInOwl:hasDbXref OMIM:609110 semapv:UnspecifiedMatching Orphanet:650051 F-box protein 43 oboInOwl:hasDbXref uniprot:Q4G163 semapv:UnspecifiedMatching @@ -46103,9 +46115,25 @@ Orphanet:650059 shortage in chiasmata 1 oboInOwl:hasDbXref uniprot:Q5VXU9 semapv Orphanet:650061 AFG2 AAA ATPase homolog B oboInOwl:hasDbXref ENSEMBL:ENSG00000171763 semapv:UnspecifiedMatching Orphanet:650061 AFG2 AAA ATPase homolog B oboInOwl:hasDbXref OMIM:619578 semapv:UnspecifiedMatching Orphanet:650061 AFG2 AAA ATPase homolog B oboInOwl:hasDbXref uniprot:Q9BVQ7 semapv:UnspecifiedMatching +Orphanet:650063 Rare central precocious puberty oboInOwl:hasDbXref UMLS:C5816766 semapv:UnspecifiedMatching +Orphanet:650070 Rare central precocious puberty in female oboInOwl:hasDbXref UMLS:C5816764 semapv:UnspecifiedMatching +Orphanet:650077 Genetic central precocious puberty in female oboInOwl:hasDbXref ICD10:E22.8 semapv:UnspecifiedMatching +Orphanet:650077 Genetic central precocious puberty in female oboInOwl:hasDbXref ICD10:E22.8 semapv:UnspecifiedMatching +Orphanet:650077 Genetic central precocious puberty in female oboInOwl:hasDbXref UMLS:C5816765 semapv:UnspecifiedMatching +Orphanet:650082 Secondary central precocious puberty in female oboInOwl:hasDbXref ICD10:E22.8 semapv:UnspecifiedMatching +Orphanet:650082 Secondary central precocious puberty in female oboInOwl:hasDbXref ICD10:E22.8 semapv:UnspecifiedMatching +Orphanet:650082 Secondary central precocious puberty in female oboInOwl:hasDbXref UMLS:C5816762 semapv:UnspecifiedMatching +Orphanet:650087 Primary central precocious puberty in male oboInOwl:hasDbXref ICD10:E22.8 semapv:UnspecifiedMatching +Orphanet:650087 Primary central precocious puberty in male oboInOwl:hasDbXref ICD10:E22.8 semapv:UnspecifiedMatching +Orphanet:650087 Primary central precocious puberty in male oboInOwl:hasDbXref UMLS:C5816763 semapv:UnspecifiedMatching +Orphanet:650092 Secondary central precocious puberty in male oboInOwl:hasDbXref ICD10:E22.8 semapv:UnspecifiedMatching +Orphanet:650092 Secondary central precocious puberty in male oboInOwl:hasDbXref ICD10:E22.8 semapv:UnspecifiedMatching +Orphanet:650092 Secondary central precocious puberty in male oboInOwl:hasDbXref UMLS:C5816760 semapv:UnspecifiedMatching Orphanet:650097 Genetic central precocious puberty in male oboInOwl:hasDbXref OMIM:176400 semapv:UnspecifiedMatching -Orphanet:651 NON RARE IN EUROPE: Idiopathic infantile nystagmus oboInOwl:hasDbXref ICD10:H81.1 semapv:UnspecifiedMatching -Orphanet:651 NON RARE IN EUROPE: Idiopathic infantile nystagmus oboInOwl:hasDbXref ICD10:H81.1 semapv:UnspecifiedMatching +Orphanet:650097 Genetic central precocious puberty in male oboInOwl:hasDbXref UMLS:C5816761 semapv:UnspecifiedMatching +Orphanet:650102 Non-genetic central precocious puberty in male oboInOwl:hasDbXref UMLS:C5816759 semapv:UnspecifiedMatching +Orphanet:650182 Genetic central precocious puberty oboInOwl:hasDbXref UMLS:C5816758 semapv:UnspecifiedMatching +Orphanet:650187 Rare peripheral precocious puberty in female oboInOwl:hasDbXref UMLS:C5816757 semapv:UnspecifiedMatching Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref ICD10:D44.8 semapv:UnspecifiedMatching Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref MESH:D018761 semapv:UnspecifiedMatching @@ -46113,11 +46141,36 @@ Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref MedDRA:10028 Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref OMIM:131100 semapv:UnspecifiedMatching Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref UMLS:C0025267 semapv:UnspecifiedMatching Orphanet:652 Multiple endocrine neoplasia type 1 oboInOwl:hasDbXref icd11:2F7A.0 semapv:UnspecifiedMatching +Orphanet:652487 Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:652487 Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:652487 Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome oboInOwl:hasDbXref OMIM:620439 semapv:UnspecifiedMatching -Orphanet:65250 Perineural cyst oboInOwl:hasDbXref MESH:D052958 semapv:UnspecifiedMatching -Orphanet:65250 Perineural cyst oboInOwl:hasDbXref UMLS:C0520720 semapv:UnspecifiedMatching +Orphanet:65250 NON RARE IN EUROPE: Perineural cyst oboInOwl:hasDbXref MESH:D052958 semapv:UnspecifiedMatching +Orphanet:65250 NON RARE IN EUROPE: Perineural cyst oboInOwl:hasDbXref UMLS:C0520720 semapv:UnspecifiedMatching Orphanet:652514 Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation oboInOwl:hasDbXref OMIM:600987 semapv:UnspecifiedMatching +Orphanet:652519 Cleft palate-congenital heart defect-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:652519 Cleft palate-congenital heart defect-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching +Orphanet:652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome oboInOwl:hasDbXref ICD10:D84.8 semapv:UnspecifiedMatching Orphanet:652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome oboInOwl:hasDbXref OMIM:150550 semapv:UnspecifiedMatching +Orphanet:652528 Non-syndromic supernumerary kidneys oboInOwl:hasDbXref ICD10:Q63.0 semapv:UnspecifiedMatching +Orphanet:652528 Non-syndromic supernumerary kidneys oboInOwl:hasDbXref ICD10:Q63.0 semapv:UnspecifiedMatching +Orphanet:652528 Non-syndromic supernumerary kidneys oboInOwl:hasDbXref UMLS:C0266298 semapv:UnspecifiedMatching +Orphanet:652532 Adult-onset progressive leukoencephalopathy-early-onset deafness oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching +Orphanet:652532 Adult-onset progressive leukoencephalopathy-early-onset deafness oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching +Orphanet:652650 Nodal T-follicular helper cell lymphoma, follicular type oboInOwl:hasDbXref ICD10:C82.7 semapv:UnspecifiedMatching +Orphanet:652650 Nodal T-follicular helper cell lymphoma, follicular type oboInOwl:hasDbXref ICD10:C82.7 semapv:UnspecifiedMatching +Orphanet:652658 Monomorphic epitheliotropic intestinal T-cell lymphoma oboInOwl:hasDbXref ICD10:C86.2 semapv:UnspecifiedMatching +Orphanet:652658 Monomorphic epitheliotropic intestinal T-cell lymphoma oboInOwl:hasDbXref ICD10:C86.2 semapv:UnspecifiedMatching +Orphanet:652658 Monomorphic epitheliotropic intestinal T-cell lymphoma oboInOwl:hasDbXref UMLS:C3272525 semapv:UnspecifiedMatching +Orphanet:652668 Primary superior vena cava aneurysm oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:652668 Primary superior vena cava aneurysm oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:652678 Primary inferior vena cava aneurysm oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:652678 Primary inferior vena cava aneurysm oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:652681 Idiopathic subglottic stenosis oboInOwl:hasDbXref ICD10:J38.7 semapv:UnspecifiedMatching +Orphanet:652681 Idiopathic subglottic stenosis oboInOwl:hasDbXref ICD10:J38.7 semapv:UnspecifiedMatching +Orphanet:652816 serine/arginine repetitive matrix 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000167978 semapv:UnspecifiedMatching +Orphanet:652816 serine/arginine repetitive matrix 2 oboInOwl:hasDbXref OMIM:606032 semapv:UnspecifiedMatching +Orphanet:652816 serine/arginine repetitive matrix 2 oboInOwl:hasDbXref uniprot:Q9UQ35 semapv:UnspecifiedMatching Orphanet:65282 Carvajal syndrome oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching Orphanet:65282 Carvajal syndrome oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching Orphanet:65282 Carvajal syndrome oboInOwl:hasDbXref MESH:C535581 semapv:UnspecifiedMatching @@ -46170,11 +46223,33 @@ Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref OMIM:162300 Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref OMIM:171400 semapv:UnspecifiedMatching Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref UMLS:C4048306 semapv:UnspecifiedMatching Orphanet:653 Multiple endocrine neoplasia type 2 oboInOwl:hasDbXref icd11:2F7A.0 semapv:UnspecifiedMatching +Orphanet:653698 Lymphocytic mastitis oboInOwl:hasDbXref ICD10:N61 semapv:UnspecifiedMatching +Orphanet:653698 Lymphocytic mastitis oboInOwl:hasDbXref ICD10:N61 semapv:UnspecifiedMatching +Orphanet:653709 Cone rod dystrophy-short stature syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching +Orphanet:653709 Cone rod dystrophy-short stature syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:653709 Cone rod dystrophy-short stature syndrome oboInOwl:hasDbXref OMIM:617547 semapv:UnspecifiedMatching +Orphanet:653712 CHD4-related neurodevelopmental disorder oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:653712 CHD4-related neurodevelopmental disorder oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:653712 CHD4-related neurodevelopmental disorder oboInOwl:hasDbXref OMIM:617159 semapv:UnspecifiedMatching +Orphanet:653725 Autosomal recessive limb-girdle muscular dystrophy, type 28 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:653725 Autosomal recessive limb-girdle muscular dystrophy, type 28 oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:653725 Autosomal recessive limb-girdle muscular dystrophy, type 28 oboInOwl:hasDbXref OMIM:620375 semapv:UnspecifiedMatching +Orphanet:653728 Congenital insensitivity to pain syndrome, Marsili type oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching +Orphanet:653728 Congenital insensitivity to pain syndrome, Marsili type oboInOwl:hasDbXref ICD10:G90.8 semapv:UnspecifiedMatching +Orphanet:653751 X-linked combined immunodeficiency due to SASH3 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:653751 X-linked combined immunodeficiency due to SASH3 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching Orphanet:653751 X-linked combined immunodeficiency due to SASH3 deficiency oboInOwl:hasDbXref OMIM:301082 semapv:UnspecifiedMatching +Orphanet:653767 Jansen-de Vries syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:653767 Jansen-de Vries syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:653767 Jansen-de Vries syndrome oboInOwl:hasDbXref OMIM:617450 semapv:UnspecifiedMatching +Orphanet:653767 Jansen-de Vries syndrome oboInOwl:hasDbXref UMLS:C4479517 semapv:UnspecifiedMatching +Orphanet:653880 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching +Orphanet:653880 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:653880 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency oboInOwl:hasDbXref OMIM:616277 semapv:UnspecifiedMatching +Orphanet:653880 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency oboInOwl:hasDbXref UMLS:C4225391 semapv:UnspecifiedMatching +Orphanet:653915 zinc finger homeobox 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000136367 semapv:UnspecifiedMatching +Orphanet:653915 zinc finger homeobox 2 oboInOwl:hasDbXref OMIM:617828 semapv:UnspecifiedMatching +Orphanet:653915 zinc finger homeobox 2 oboInOwl:hasDbXref uniprot:Q9C0A1 semapv:UnspecifiedMatching Orphanet:654 Nephroblastoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching Orphanet:654 Nephroblastoma oboInOwl:hasDbXref ICD10:C64 semapv:UnspecifiedMatching Orphanet:654 Nephroblastoma oboInOwl:hasDbXref MESH:D009396 semapv:UnspecifiedMatching @@ -46236,13 +46311,35 @@ Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMI Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref OMIM:619201 semapv:UnspecifiedMatching Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref UMLS:C4273714 semapv:UnspecifiedMatching Orphanet:656 Genetic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref icd11:GB41 semapv:UnspecifiedMatching +Orphanet:656071 Atrophic papulosis oboInOwl:hasDbXref ICD10:I77.8 semapv:UnspecifiedMatching +Orphanet:656071 Atrophic papulosis oboInOwl:hasDbXref ICD10:I77.8 semapv:UnspecifiedMatching +Orphanet:656126 Segmental spinal dysgenesis oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching +Orphanet:656126 Segmental spinal dysgenesis oboInOwl:hasDbXref ICD10:Q76.0 semapv:UnspecifiedMatching +Orphanet:656130 PBX1-related congenital anomalies of kidney and urinary tract syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:656130 PBX1-related congenital anomalies of kidney and urinary tract syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:656130 PBX1-related congenital anomalies of kidney and urinary tract syndrome oboInOwl:hasDbXref OMIM:617641 semapv:UnspecifiedMatching +Orphanet:656135 Intellectual disability-cupped ears syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:656135 Intellectual disability-cupped ears syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:656135 Intellectual disability-cupped ears syndrome oboInOwl:hasDbXref OMIM:618604 semapv:UnspecifiedMatching -Orphanet:656273 Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome oboInOwl:hasDbXref OMIM:618493 semapv:UnspecifiedMatching +Orphanet:656279 1p36.33 duplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:656279 1p36.33 duplication syndrome oboInOwl:hasDbXref ICD10:Q92.3 semapv:UnspecifiedMatching +Orphanet:656279 1p36.33 duplication syndrome oboInOwl:hasDbXref OMIM:618815 semapv:UnspecifiedMatching +Orphanet:656283 Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency oboInOwl:hasDbXref ICD10:D82.4 semapv:UnspecifiedMatching +Orphanet:656283 Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency oboInOwl:hasDbXref ICD10:D82.4 semapv:UnspecifiedMatching Orphanet:656283 Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency oboInOwl:hasDbXref OMIM:619751 semapv:UnspecifiedMatching +Orphanet:656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency oboInOwl:hasDbXref ICD10:D82.4 semapv:UnspecifiedMatching +Orphanet:656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency oboInOwl:hasDbXref ICD10:D82.4 semapv:UnspecifiedMatching Orphanet:656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency oboInOwl:hasDbXref OMIM:618523 semapv:UnspecifiedMatching +Orphanet:656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency oboInOwl:hasDbXref ICD10:D82.4 semapv:UnspecifiedMatching +Orphanet:656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency oboInOwl:hasDbXref ICD10:D82.4 semapv:UnspecifiedMatching Orphanet:656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency oboInOwl:hasDbXref OMIM:619752 semapv:UnspecifiedMatching +Orphanet:656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency oboInOwl:hasDbXref ICD10:D82.4 semapv:UnspecifiedMatching +Orphanet:656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency oboInOwl:hasDbXref ICD10:D82.4 semapv:UnspecifiedMatching Orphanet:656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency oboInOwl:hasDbXref OMIM:618944 semapv:UnspecifiedMatching +Orphanet:656417 Embryonal tumor with multilayered rosettes oboInOwl:hasDbXref ICD10:C22.7 semapv:UnspecifiedMatching +Orphanet:656417 Embryonal tumor with multilayered rosettes oboInOwl:hasDbXref ICD10:C22.7 semapv:UnspecifiedMatching +Orphanet:656417 Embryonal tumor with multilayered rosettes oboInOwl:hasDbXref UMLS:C5575350 semapv:UnspecifiedMatching +Orphanet:656417 Embryonal tumor with multilayered rosettes oboInOwl:hasDbXref icd11:XH0KZ2 semapv:UnspecifiedMatching Orphanet:65681 Vaginal atresia oboInOwl:hasDbXref ICD10:Q52.0 semapv:UnspecifiedMatching Orphanet:65681 Vaginal atresia oboInOwl:hasDbXref ICD10:Q52.0 semapv:UnspecifiedMatching Orphanet:65681 Vaginal atresia oboInOwl:hasDbXref MedDRA:10046879 semapv:UnspecifiedMatching @@ -46267,6 +46364,8 @@ Orphanet:65684 Monomelic amyotrophy oboInOwl:hasDbXref MedDRA:10069681 semapv:Un Orphanet:65684 Monomelic amyotrophy oboInOwl:hasDbXref OMIM:602440 semapv:UnspecifiedMatching Orphanet:65684 Monomelic amyotrophy oboInOwl:hasDbXref UMLS:C1865384 semapv:UnspecifiedMatching Orphanet:65684 Monomelic amyotrophy oboInOwl:hasDbXref icd11:8B60.6 semapv:UnspecifiedMatching +Orphanet:656912 Autosomal dominant combined immunodeficiency due to ERBIN deficiency oboInOwl:hasDbXref ICD10:D82.4 semapv:UnspecifiedMatching +Orphanet:656912 Autosomal dominant combined immunodeficiency due to ERBIN deficiency oboInOwl:hasDbXref ICD10:D82.4 semapv:UnspecifiedMatching Orphanet:657 Congenital isolated hyperinsulinism oboInOwl:hasDbXref MESH:D044903 semapv:UnspecifiedMatching Orphanet:657 Congenital isolated hyperinsulinism oboInOwl:hasDbXref UMLS:C3888018 semapv:UnspecifiedMatching Orphanet:65720 Arthrogryposis-severe scoliosis syndrome oboInOwl:hasDbXref ICD10:Q68.8 semapv:UnspecifiedMatching @@ -46300,6 +46399,63 @@ Orphanet:65798 Goodman syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:Unspecifie Orphanet:65798 Goodman syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:65798 Goodman syndrome oboInOwl:hasDbXref OMIM:201020 semapv:UnspecifiedMatching Orphanet:65798 Goodman syndrome oboInOwl:hasDbXref UMLS:C0265303 semapv:UnspecifiedMatching +Orphanet:658540 16q22 deletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:658540 16q22 deletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:658540 16q22 deletion syndrome oboInOwl:hasDbXref OMIM:614541 semapv:UnspecifiedMatching +Orphanet:658540 16q22 deletion syndrome oboInOwl:hasDbXref UMLS:C3281152 semapv:UnspecifiedMatching +Orphanet:658549 Idiopathic small fibers neuropathy oboInOwl:hasDbXref ICD10:G90.0 semapv:UnspecifiedMatching +Orphanet:658549 Idiopathic small fibers neuropathy oboInOwl:hasDbXref ICD10:G90.0 semapv:UnspecifiedMatching +Orphanet:658574 Isolated pulmonary artery sling oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching +Orphanet:658574 Isolated pulmonary artery sling oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching +Orphanet:658584 Rowell syndrome oboInOwl:hasDbXref ICD10:M32.8 semapv:UnspecifiedMatching +Orphanet:658584 Rowell syndrome oboInOwl:hasDbXref ICD10:M32.8 semapv:UnspecifiedMatching +Orphanet:658584 Rowell syndrome oboInOwl:hasDbXref UMLS:C0406637 semapv:UnspecifiedMatching +Orphanet:658590 Eyelid sebaceous carcinoma oboInOwl:hasDbXref ICD10:D04.1 semapv:UnspecifiedMatching +Orphanet:658590 Eyelid sebaceous carcinoma oboInOwl:hasDbXref ICD10:D04.1 semapv:UnspecifiedMatching +Orphanet:658590 Eyelid sebaceous carcinoma oboInOwl:hasDbXref UMLS:C4525405 semapv:UnspecifiedMatching +Orphanet:658590 Eyelid sebaceous carcinoma oboInOwl:hasDbXref icd11:2C33 semapv:UnspecifiedMatching +Orphanet:658595 DNMT3A-related microcephalic dwarfism oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:658595 DNMT3A-related microcephalic dwarfism oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:658595 DNMT3A-related microcephalic dwarfism oboInOwl:hasDbXref OMIM:618724 semapv:UnspecifiedMatching +Orphanet:658602 Transplant-related bronchiolitis obliterans oboInOwl:hasDbXref ICD10:Y83.0 semapv:UnspecifiedMatching +Orphanet:658602 Transplant-related bronchiolitis obliterans oboInOwl:hasDbXref ICD10:Y83.0 semapv:UnspecifiedMatching +Orphanet:658602 Transplant-related bronchiolitis obliterans oboInOwl:hasDbXref UMLS:C5574736 semapv:UnspecifiedMatching +Orphanet:658612 Non-transplant-related bronchiolitis obliterans oboInOwl:hasDbXref ICD10:J44.8 semapv:UnspecifiedMatching +Orphanet:658612 Non-transplant-related bronchiolitis obliterans oboInOwl:hasDbXref ICD10:J44.8 semapv:UnspecifiedMatching +Orphanet:658778 COQ7-related distal hereditary motor neuropathy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:658778 COQ7-related distal hereditary motor neuropathy oboInOwl:hasDbXref ICD10:G60.0 semapv:UnspecifiedMatching +Orphanet:658778 COQ7-related distal hereditary motor neuropathy oboInOwl:hasDbXref OMIM:620402 semapv:UnspecifiedMatching +Orphanet:658805 Greig cephalopolysyndactyly-contiguous gene syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:658805 Greig cephalopolysyndactyly-contiguous gene syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:658805 Greig cephalopolysyndactyly-contiguous gene syndrome oboInOwl:hasDbXref OMIM:175700 semapv:UnspecifiedMatching +Orphanet:658810 Atrophoderma of Pasini and Pierini oboInOwl:hasDbXref ICD10:L90.3 semapv:UnspecifiedMatching +Orphanet:658810 Atrophoderma of Pasini and Pierini oboInOwl:hasDbXref ICD10:L90.3 semapv:UnspecifiedMatching +Orphanet:658810 Atrophoderma of Pasini and Pierini oboInOwl:hasDbXref UMLS:C3887897 semapv:UnspecifiedMatching +Orphanet:658810 Atrophoderma of Pasini and Pierini oboInOwl:hasDbXref icd11:EE7Y semapv:UnspecifiedMatching +Orphanet:658813 Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:658813 Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency oboInOwl:hasDbXref ICD10:D81.8 semapv:UnspecifiedMatching +Orphanet:658813 Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency oboInOwl:hasDbXref OMIM:617780 semapv:UnspecifiedMatching +Orphanet:658843 Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:658843 Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:658843 Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome oboInOwl:hasDbXref OMIM:617330 semapv:UnspecifiedMatching +Orphanet:658909 Fasciolopsiasis oboInOwl:hasDbXref ICD10:B66.5 semapv:UnspecifiedMatching +Orphanet:658909 Fasciolopsiasis oboInOwl:hasDbXref ICD10:B66.5 semapv:UnspecifiedMatching +Orphanet:658909 Fasciolopsiasis oboInOwl:hasDbXref UMLS:C0015656 semapv:UnspecifiedMatching +Orphanet:658909 Fasciolopsiasis oboInOwl:hasDbXref icd11:1F83 semapv:UnspecifiedMatching +Orphanet:658913 Paragonimiasis oboInOwl:hasDbXref ICD10:B66.4 semapv:UnspecifiedMatching +Orphanet:658913 Paragonimiasis oboInOwl:hasDbXref ICD10:B66.4 semapv:UnspecifiedMatching +Orphanet:658913 Paragonimiasis oboInOwl:hasDbXref UMLS:C0030424 semapv:UnspecifiedMatching +Orphanet:658913 Paragonimiasis oboInOwl:hasDbXref icd11:1F85 semapv:UnspecifiedMatching +Orphanet:658917 Clonorchiasis oboInOwl:hasDbXref ICD10:B66.1 semapv:UnspecifiedMatching +Orphanet:658917 Clonorchiasis oboInOwl:hasDbXref ICD10:B66.1 semapv:UnspecifiedMatching +Orphanet:658917 Clonorchiasis oboInOwl:hasDbXref UMLS:C0009021 semapv:UnspecifiedMatching +Orphanet:658917 Clonorchiasis oboInOwl:hasDbXref icd11:1F80 semapv:UnspecifiedMatching +Orphanet:658946 Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:658946 Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:658946 Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency oboInOwl:hasDbXref OMIM:301109 semapv:UnspecifiedMatching +Orphanet:658951 Early-onset immune dysregulation due to DOCK11 complete deficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:658951 Early-onset immune dysregulation due to DOCK11 complete deficiency oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching +Orphanet:658951 Early-onset immune dysregulation due to DOCK11 complete deficiency oboInOwl:hasDbXref OMIM:301109 semapv:UnspecifiedMatching Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref MedDRA:10068842 semapv:UnspecifiedMatching @@ -46308,6 +46464,54 @@ Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic pl Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref OMIM:619208 semapv:UnspecifiedMatching Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref UMLS:C0406761 semapv:UnspecifiedMatching Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques oboInOwl:hasDbXref icd11:EC20.30 semapv:UnspecifiedMatching +Orphanet:659396 Cohen-Gibson syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:659396 Cohen-Gibson syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:659396 Cohen-Gibson syndrome oboInOwl:hasDbXref OMIM:617561 semapv:UnspecifiedMatching +Orphanet:659396 Cohen-Gibson syndrome oboInOwl:hasDbXref UMLS:C4479654 semapv:UnspecifiedMatching +Orphanet:659463 Imagawa-Matsumoto syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:659463 Imagawa-Matsumoto syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching +Orphanet:659463 Imagawa-Matsumoto syndrome oboInOwl:hasDbXref OMIM:618786 semapv:UnspecifiedMatching +Orphanet:659463 Imagawa-Matsumoto syndrome oboInOwl:hasDbXref UMLS:C5394073 semapv:UnspecifiedMatching +Orphanet:659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome oboInOwl:hasDbXref OMIM:618577 semapv:UnspecifiedMatching +Orphanet:659642 Rauch-Steindl syndrome oboInOwl:hasDbXref OMIM:619695 semapv:UnspecifiedMatching +Orphanet:659642 Rauch-Steindl syndrome oboInOwl:hasDbXref UMLS:C5562061 semapv:UnspecifiedMatching +Orphanet:659672 Harderoporphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching +Orphanet:659672 Harderoporphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching +Orphanet:659672 Harderoporphyria oboInOwl:hasDbXref OMIM:618892 semapv:UnspecifiedMatching +Orphanet:659672 Harderoporphyria oboInOwl:hasDbXref UMLS:C0342859 semapv:UnspecifiedMatching +Orphanet:659672 Harderoporphyria oboInOwl:hasDbXref icd11:5C58.1Y semapv:UnspecifiedMatching +Orphanet:659694 Hepatic porphyria oboInOwl:hasDbXref UMLS:C0162533 semapv:UnspecifiedMatching +Orphanet:659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching +Orphanet:659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome oboInOwl:hasDbXref OMIM:617164 semapv:UnspecifiedMatching +Orphanet:659707 Yersinia pseudotuberculosis infection oboInOwl:hasDbXref ICD10:A28.2 semapv:UnspecifiedMatching +Orphanet:659707 Yersinia pseudotuberculosis infection oboInOwl:hasDbXref ICD10:A28.2 semapv:UnspecifiedMatching +Orphanet:659707 Yersinia pseudotuberculosis infection oboInOwl:hasDbXref UMLS:C0043410 semapv:UnspecifiedMatching +Orphanet:659707 Yersinia pseudotuberculosis infection oboInOwl:hasDbXref icd11:1B9A semapv:UnspecifiedMatching +Orphanet:659744 Ocular surface squamous neoplasia oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching +Orphanet:659744 Ocular surface squamous neoplasia oboInOwl:hasDbXref ICD10:D48.7 semapv:UnspecifiedMatching +Orphanet:659744 Ocular surface squamous neoplasia oboInOwl:hasDbXref UMLS:C4761284 semapv:UnspecifiedMatching +Orphanet:659756 Oroya fever oboInOwl:hasDbXref ICD10:A44.0 semapv:UnspecifiedMatching +Orphanet:659756 Oroya fever oboInOwl:hasDbXref ICD10:A44.0 semapv:UnspecifiedMatching +Orphanet:659756 Oroya fever oboInOwl:hasDbXref icd11:1C11.00 semapv:UnspecifiedMatching +Orphanet:659759 Verruga peruana oboInOwl:hasDbXref ICD10:A44.1 semapv:UnspecifiedMatching +Orphanet:659759 Verruga peruana oboInOwl:hasDbXref ICD10:A44.1 semapv:UnspecifiedMatching +Orphanet:659759 Verruga peruana oboInOwl:hasDbXref UMLS:C0042552 semapv:UnspecifiedMatching +Orphanet:659759 Verruga peruana oboInOwl:hasDbXref icd11:1C11.01 semapv:UnspecifiedMatching +Orphanet:659873 Wormian bones-micrognathia-abnormal dentition-progeroid syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:659873 Wormian bones-micrognathia-abnormal dentition-progeroid syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:659873 Wormian bones-micrognathia-abnormal dentition-progeroid syndrome oboInOwl:hasDbXref OMIM:619322 semapv:UnspecifiedMatching +Orphanet:659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome oboInOwl:hasDbXref OMIM:619539 semapv:UnspecifiedMatching +Orphanet:659908 Glanders oboInOwl:hasDbXref ICD10:A24.0 semapv:UnspecifiedMatching +Orphanet:659908 Glanders oboInOwl:hasDbXref ICD10:A24.0 semapv:UnspecifiedMatching +Orphanet:659908 Glanders oboInOwl:hasDbXref UMLS:C0017589 semapv:UnspecifiedMatching +Orphanet:659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:H91.8 semapv:UnspecifiedMatching +Orphanet:659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:H91.8 semapv:UnspecifiedMatching +Orphanet:659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:619616 semapv:UnspecifiedMatching Orphanet:660 Omphalocele oboInOwl:hasDbXref ICD10:Q79.2 semapv:UnspecifiedMatching Orphanet:660 Omphalocele oboInOwl:hasDbXref ICD10:Q79.2 semapv:UnspecifiedMatching Orphanet:660 Omphalocele oboInOwl:hasDbXref MESH:D006554 semapv:UnspecifiedMatching @@ -46316,6 +46520,21 @@ Orphanet:660 Omphalocele oboInOwl:hasDbXref OMIM:164750 semapv:UnspecifiedMatchi Orphanet:660 Omphalocele oboInOwl:hasDbXref OMIM:310980 semapv:UnspecifiedMatching Orphanet:660 Omphalocele oboInOwl:hasDbXref UMLS:C0795690 semapv:UnspecifiedMatching Orphanet:660 Omphalocele oboInOwl:hasDbXref icd11:LB01 semapv:UnspecifiedMatching +Orphanet:660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation oboInOwl:hasDbXref OMIM:619911 semapv:UnspecifiedMatching +Orphanet:660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching +Orphanet:660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome oboInOwl:hasDbXref OMIM:619911 semapv:UnspecifiedMatching +Orphanet:660021 Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:660021 Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:660030 PR/SET domain 10 oboInOwl:hasDbXref ENSEMBL:ENSG00000170325 semapv:UnspecifiedMatching +Orphanet:660030 PR/SET domain 10 oboInOwl:hasDbXref OMIM:618319 semapv:UnspecifiedMatching +Orphanet:660030 PR/SET domain 10 oboInOwl:hasDbXref uniprot:Q9NQV6 semapv:UnspecifiedMatching +Orphanet:660053 Psittacosis oboInOwl:hasDbXref ICD10:A70 semapv:UnspecifiedMatching +Orphanet:660053 Psittacosis oboInOwl:hasDbXref ICD10:A70 semapv:UnspecifiedMatching +Orphanet:660053 Psittacosis oboInOwl:hasDbXref UMLS:C0029291 semapv:UnspecifiedMatching +Orphanet:660763 angiomotin like 1 oboInOwl:hasDbXref ENSEMBL:ENSG00000166025 semapv:UnspecifiedMatching +Orphanet:660763 angiomotin like 1 oboInOwl:hasDbXref OMIM:614657 semapv:UnspecifiedMatching +Orphanet:660763 angiomotin like 1 oboInOwl:hasDbXref uniprot:Q8IY63 semapv:UnspecifiedMatching Orphanet:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref ICD10:G47.3 semapv:UnspecifiedMatching Orphanet:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref ICD10:G47.3 semapv:UnspecifiedMatching Orphanet:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref MESH:C536209 semapv:UnspecifiedMatching @@ -46325,6 +46544,13 @@ Orphanet:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref OMIM Orphanet:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref OMIM:619483 semapv:UnspecifiedMatching Orphanet:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref UMLS:C1275808 semapv:UnspecifiedMatching Orphanet:661 Congenital central hypoventilation syndrome oboInOwl:hasDbXref icd11:7A42.1 semapv:UnspecifiedMatching +Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency oboInOwl:hasDbXref ICD10:D52.8 semapv:UnspecifiedMatching +Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency oboInOwl:hasDbXref ICD10:D52.8 semapv:UnspecifiedMatching +Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency oboInOwl:hasDbXref OMIM:601775 semapv:UnspecifiedMatching +Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency oboInOwl:hasDbXref OMIM:620603 semapv:UnspecifiedMatching +Orphanet:661526 MBD4-related tumor predisposition syndrome oboInOwl:hasDbXref ICD10:C18.8 semapv:UnspecifiedMatching +Orphanet:661526 MBD4-related tumor predisposition syndrome oboInOwl:hasDbXref ICD10:C18.8 semapv:UnspecifiedMatching +Orphanet:661526 MBD4-related tumor predisposition syndrome oboInOwl:hasDbXref OMIM:619975 semapv:UnspecifiedMatching Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref ICD10:L60.5 semapv:UnspecifiedMatching Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref ICD10:L60.5 semapv:UnspecifiedMatching Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref MESH:D056684 semapv:UnspecifiedMatching @@ -46332,10 +46558,113 @@ Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref MedDRA:10048244 semapv:Unsp Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref OMIM:153300 semapv:UnspecifiedMatching Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref UMLS:C0221348 semapv:UnspecifiedMatching Orphanet:662 Yellow nail syndrome oboInOwl:hasDbXref icd11:EE11.1 semapv:UnspecifiedMatching +Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion oboInOwl:hasDbXref OMIM:606232 semapv:UnspecifiedMatching +Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion oboInOwl:hasDbXref icd11:LD44.NY semapv:UnspecifiedMatching +Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation oboInOwl:hasDbXref OMIM:606232 semapv:UnspecifiedMatching +Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation oboInOwl:hasDbXref icd11:LD44.NY semapv:UnspecifiedMatching +Orphanet:662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref OMIM:618829 semapv:UnspecifiedMatching +Orphanet:662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref OMIM:618828 semapv:UnspecifiedMatching +Orphanet:662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching +Orphanet:662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome oboInOwl:hasDbXref OMIM:617404 semapv:UnspecifiedMatching +Orphanet:662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome oboInOwl:hasDbXref OMIM:620073 semapv:UnspecifiedMatching +Orphanet:662194 heterogeneous nuclear ribonucleoprotein C oboInOwl:hasDbXref ENSEMBL:ENSG00000092199 semapv:UnspecifiedMatching +Orphanet:662194 heterogeneous nuclear ribonucleoprotein C oboInOwl:hasDbXref OMIM:164020 semapv:UnspecifiedMatching +Orphanet:662194 heterogeneous nuclear ribonucleoprotein C oboInOwl:hasDbXref uniprot:P07910 semapv:UnspecifiedMatching +Orphanet:662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching +Orphanet:662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome oboInOwl:hasDbXref OMIM:300986 semapv:UnspecifiedMatching +Orphanet:662207 Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:662207 Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:662207 Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome oboInOwl:hasDbXref OMIM:620083 semapv:UnspecifiedMatching +Orphanet:662216 Mucopolysaccharidosis type 10 oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:662216 Mucopolysaccharidosis type 10 oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching +Orphanet:662216 Mucopolysaccharidosis type 10 oboInOwl:hasDbXref OMIM:619698 semapv:UnspecifiedMatching +Orphanet:662216 Mucopolysaccharidosis type 10 oboInOwl:hasDbXref icd11:5C56.3Y semapv:UnspecifiedMatching +Orphanet:662222 arylsulfatase family member K oboInOwl:hasDbXref ENSEMBL:ENSG00000164291 semapv:UnspecifiedMatching +Orphanet:662222 arylsulfatase family member K oboInOwl:hasDbXref OMIM:610011 semapv:UnspecifiedMatching +Orphanet:662222 arylsulfatase family member K oboInOwl:hasDbXref uniprot:Q6UWY0 semapv:UnspecifiedMatching +Orphanet:662229 Episodic memory defect leukoencephalopathy oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:662229 Episodic memory defect leukoencephalopathy oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching +Orphanet:662234 Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:662234 Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:662234 Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome oboInOwl:hasDbXref OMIM:619312 semapv:UnspecifiedMatching +Orphanet:662240 Frey syndrome oboInOwl:hasDbXref ICD10:G50.8 semapv:UnspecifiedMatching +Orphanet:662240 Frey syndrome oboInOwl:hasDbXref ICD10:G50.8 semapv:UnspecifiedMatching +Orphanet:662240 Frey syndrome oboInOwl:hasDbXref MESH:D013547 semapv:UnspecifiedMatching +Orphanet:662240 Frey syndrome oboInOwl:hasDbXref UMLS:C0162473 semapv:UnspecifiedMatching +Orphanet:662240 Frey syndrome oboInOwl:hasDbXref icd11:8B82.Z semapv:UnspecifiedMatching +Orphanet:662255 Grisel syndrome oboInOwl:hasDbXref ICD10:M43.8 semapv:UnspecifiedMatching +Orphanet:662255 Grisel syndrome oboInOwl:hasDbXref ICD10:M43.8 semapv:UnspecifiedMatching +Orphanet:662255 Grisel syndrome oboInOwl:hasDbXref UMLS:C0263885 semapv:UnspecifiedMatching +Orphanet:662367 NESCAV syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:662367 NESCAV syndrome oboInOwl:hasDbXref ICD10:G93.8 semapv:UnspecifiedMatching +Orphanet:662367 NESCAV syndrome oboInOwl:hasDbXref OMIM:614255 semapv:UnspecifiedMatching +Orphanet:662376 Gastric duplication oboInOwl:hasDbXref ICD10:Q40.2 semapv:UnspecifiedMatching +Orphanet:662376 Gastric duplication oboInOwl:hasDbXref ICD10:Q40.2 semapv:UnspecifiedMatching +Orphanet:662388 Gallbladder duplication oboInOwl:hasDbXref ICD10:Q44.1 semapv:UnspecifiedMatching +Orphanet:662388 Gallbladder duplication oboInOwl:hasDbXref ICD10:Q44.1 semapv:UnspecifiedMatching +Orphanet:662388 Gallbladder duplication oboInOwl:hasDbXref icd11:LB20.1Y semapv:UnspecifiedMatching +Orphanet:662392 Colonic duplication oboInOwl:hasDbXref ICD10:Q43.4 semapv:UnspecifiedMatching +Orphanet:662392 Colonic duplication oboInOwl:hasDbXref ICD10:Q43.4 semapv:UnspecifiedMatching +Orphanet:662405 Pyloric duplication oboInOwl:hasDbXref ICD10:Q40.2 semapv:UnspecifiedMatching +Orphanet:662405 Pyloric duplication oboInOwl:hasDbXref ICD10:Q40.2 semapv:UnspecifiedMatching +Orphanet:662456 Small intestine duplication oboInOwl:hasDbXref ICD10:Q43.4 semapv:UnspecifiedMatching +Orphanet:662456 Small intestine duplication oboInOwl:hasDbXref ICD10:Q43.4 semapv:UnspecifiedMatching +Orphanet:662456 Small intestine duplication oboInOwl:hasDbXref icd11:LB15.Y semapv:UnspecifiedMatching +Orphanet:662473 Duodenal duplication oboInOwl:hasDbXref ICD10:Q43.4 semapv:UnspecifiedMatching +Orphanet:662473 Duodenal duplication oboInOwl:hasDbXref ICD10:Q43.4 semapv:UnspecifiedMatching +Orphanet:662473 Duodenal duplication oboInOwl:hasDbXref icd11:LB14 semapv:UnspecifiedMatching +Orphanet:662721 Placenta accreta spectrum disorder oboInOwl:hasDbXref ICD10:O43.2 semapv:UnspecifiedMatching +Orphanet:662721 Placenta accreta spectrum disorder oboInOwl:hasDbXref ICD10:O43.2 semapv:UnspecifiedMatching +Orphanet:662721 Placenta accreta spectrum disorder oboInOwl:hasDbXref icd11:JA8A.2 semapv:UnspecifiedMatching +Orphanet:662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome oboInOwl:hasDbXref OMIM:620141 semapv:UnspecifiedMatching +Orphanet:662786 Vasa previa oboInOwl:hasDbXref ICD10:O69.4 semapv:UnspecifiedMatching +Orphanet:662786 Vasa previa oboInOwl:hasDbXref ICD10:O69.4 semapv:UnspecifiedMatching +Orphanet:662786 Vasa previa oboInOwl:hasDbXref ICD10:P02.6 semapv:UnspecifiedMatching +Orphanet:662786 Vasa previa oboInOwl:hasDbXref ICD10:P02.6 semapv:UnspecifiedMatching +Orphanet:662786 Vasa previa oboInOwl:hasDbXref ICD10:P50.0 semapv:UnspecifiedMatching +Orphanet:662786 Vasa previa oboInOwl:hasDbXref ICD10:P50.0 semapv:UnspecifiedMatching +Orphanet:662786 Vasa previa oboInOwl:hasDbXref icd11:JB08.3 semapv:UnspecifiedMatching +Orphanet:662786 Vasa previa oboInOwl:hasDbXref icd11:KA03.3 semapv:UnspecifiedMatching +Orphanet:662786 Vasa previa oboInOwl:hasDbXref icd11:KA80.0 semapv:UnspecifiedMatching +Orphanet:662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome oboInOwl:hasDbXref OMIM:618092 semapv:UnspecifiedMatching Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia oboInOwl:hasDbXref ICD10:H49.4 semapv:UnspecifiedMatching Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia oboInOwl:hasDbXref ICD10:H49.4 semapv:UnspecifiedMatching Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia oboInOwl:hasDbXref UMLS:C0162674 semapv:UnspecifiedMatching Orphanet:663 Mitochondrial DNA-related progressive external ophthalmoplegia oboInOwl:hasDbXref icd11:9C82.0 semapv:UnspecifiedMatching +Orphanet:663289 actin related protein 2/3 complex subunit 4 oboInOwl:hasDbXref ENSEMBL:ENSG00000241553 semapv:UnspecifiedMatching +Orphanet:663289 actin related protein 2/3 complex subunit 4 oboInOwl:hasDbXref OMIM:604226 semapv:UnspecifiedMatching +Orphanet:663289 actin related protein 2/3 complex subunit 4 oboInOwl:hasDbXref uniprot:P59998 semapv:UnspecifiedMatching +Orphanet:663458 chromodomain helicase DNA binding protein 6 oboInOwl:hasDbXref ENSEMBL:ENSG00000124177 semapv:UnspecifiedMatching +Orphanet:663458 chromodomain helicase DNA binding protein 6 oboInOwl:hasDbXref OMIM:616114 semapv:UnspecifiedMatching +Orphanet:663458 chromodomain helicase DNA binding protein 6 oboInOwl:hasDbXref uniprot:Q8TD26 semapv:UnspecifiedMatching +Orphanet:663850 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000124588 semapv:UnspecifiedMatching +Orphanet:663850 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 oboInOwl:hasDbXref OMIM:160998 semapv:UnspecifiedMatching +Orphanet:663850 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 oboInOwl:hasDbXref uniprot:P16083 semapv:UnspecifiedMatching +Orphanet:663868 potassium voltage-gated channel subfamily C member 2 oboInOwl:hasDbXref ENSEMBL:ENSG00000166006 semapv:UnspecifiedMatching +Orphanet:663868 potassium voltage-gated channel subfamily C member 2 oboInOwl:hasDbXref OMIM:176256 semapv:UnspecifiedMatching +Orphanet:663868 potassium voltage-gated channel subfamily C member 2 oboInOwl:hasDbXref uniprot:Q96PR1 semapv:UnspecifiedMatching +Orphanet:663910 ciliated left-right organizer metallopeptidase oboInOwl:hasDbXref ENSEMBL:ENSG00000283654 semapv:UnspecifiedMatching +Orphanet:663910 ciliated left-right organizer metallopeptidase oboInOwl:hasDbXref OMIM:619703 semapv:UnspecifiedMatching +Orphanet:663910 ciliated left-right organizer metallopeptidase oboInOwl:hasDbXref uniprot:A0A1B0GTW7 semapv:UnspecifiedMatching +Orphanet:663918 ATPase H+ transporting V0 subunit a1 oboInOwl:hasDbXref ENSEMBL:ENSG00000033627 semapv:UnspecifiedMatching +Orphanet:663918 ATPase H+ transporting V0 subunit a1 oboInOwl:hasDbXref OMIM:192130 semapv:UnspecifiedMatching +Orphanet:663918 ATPase H+ transporting V0 subunit a1 oboInOwl:hasDbXref uniprot:Q93050 semapv:UnspecifiedMatching Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref ICD10:E72.4 semapv:UnspecifiedMatching Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref MESH:D020163 semapv:UnspecifiedMatching @@ -46343,6 +46672,42 @@ Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref MedDRA:100 Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref OMIM:311250 semapv:UnspecifiedMatching Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref UMLS:C0268542 semapv:UnspecifiedMatching Orphanet:664 Ornithine transcarbamylase deficiency oboInOwl:hasDbXref icd11:5C50.AY semapv:UnspecifiedMatching +Orphanet:664372 Soft and hard cleft palate oboInOwl:hasDbXref ICD10:Q35.5 semapv:UnspecifiedMatching +Orphanet:664372 Soft and hard cleft palate oboInOwl:hasDbXref ICD10:Q35.5 semapv:UnspecifiedMatching +Orphanet:664377 MGP-related spondyloepiphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:664377 MGP-related spondyloepiphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation oboInOwl:hasDbXref OMIM:614980 semapv:UnspecifiedMatching +Orphanet:664404 6q25.1 microdeletion syndrome oboInOwl:hasDbXref OMIM:614980 semapv:UnspecifiedMatching +Orphanet:664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref OMIM:613443 semapv:UnspecifiedMatching +Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation oboInOwl:hasDbXref OMIM:613443 semapv:UnspecifiedMatching +Orphanet:664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching +Orphanet:664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome oboInOwl:hasDbXref OMIM:620746 semapv:UnspecifiedMatching +Orphanet:664438 Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:664438 Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:664438 Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome oboInOwl:hasDbXref OMIM:618729 semapv:UnspecifiedMatching +Orphanet:664699 EBV-induced lymphoproliferative disease due to RASGRP1 deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching +Orphanet:664699 EBV-induced lymphoproliferative disease due to RASGRP1 deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching +Orphanet:664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching +Orphanet:664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching +Orphanet:664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency oboInOwl:hasDbXref OMIM:615559 semapv:UnspecifiedMatching +Orphanet:664726 EBV-induced lymphoproliferative disease due to CD137 deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching +Orphanet:664726 EBV-induced lymphoproliferative disease due to CD137 deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching +Orphanet:664726 EBV-induced lymphoproliferative disease due to CD137 deficiency oboInOwl:hasDbXref OMIM:620282 semapv:UnspecifiedMatching +Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching +Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency oboInOwl:hasDbXref ICD10:D82.3 semapv:UnspecifiedMatching +Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency oboInOwl:hasDbXref OMIM:619126 semapv:UnspecifiedMatching +Orphanet:664787 Nicolau syndrome oboInOwl:hasDbXref ICD10:T80.1 semapv:UnspecifiedMatching +Orphanet:664787 Nicolau syndrome oboInOwl:hasDbXref ICD10:T80.1 semapv:UnspecifiedMatching +Orphanet:664901 Trigeminal trophic syndrome oboInOwl:hasDbXref ICD10:G50.8 semapv:UnspecifiedMatching +Orphanet:664901 Trigeminal trophic syndrome oboInOwl:hasDbXref ICD10:G50.8 semapv:UnspecifiedMatching +Orphanet:664912 Neonatal renal venous thrombosis oboInOwl:hasDbXref ICD10:I82.8 semapv:UnspecifiedMatching +Orphanet:664912 Neonatal renal venous thrombosis oboInOwl:hasDbXref ICD10:I82.8 semapv:UnspecifiedMatching +Orphanet:664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome oboInOwl:hasDbXref OMIM:618622 semapv:UnspecifiedMatching Orphanet:665 Albright hereditary osteodystrophy oboInOwl:hasDbXref UMLS:C2931404 semapv:UnspecifiedMatching Orphanet:66518 Short fifth metacarpals-insulin resistance syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:66518 Short fifth metacarpals-insulin resistance syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching @@ -46453,6 +46818,17 @@ Orphanet:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref OMIM Orphanet:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref OMIM:615085 semapv:UnspecifiedMatching Orphanet:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref UMLS:C1318518 semapv:UnspecifiedMatching Orphanet:667 Autosomal recessive malignant osteopetrosis oboInOwl:hasDbXref icd11:LD24.10 semapv:UnspecifiedMatching +Orphanet:667589 Isolated congenital femoral bifurcation oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:667589 Isolated congenital femoral bifurcation oboInOwl:hasDbXref ICD10:Q74.2 semapv:UnspecifiedMatching +Orphanet:667662 Breast implant-associated anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C84.7 semapv:UnspecifiedMatching +Orphanet:667662 Breast implant-associated anaplastic large cell lymphoma oboInOwl:hasDbXref ICD10:C84.7 semapv:UnspecifiedMatching +Orphanet:667662 Breast implant-associated anaplastic large cell lymphoma oboInOwl:hasDbXref MedDRA:10082495 semapv:UnspecifiedMatching +Orphanet:667662 Breast implant-associated anaplastic large cell lymphoma oboInOwl:hasDbXref UMLS:C4528210 semapv:UnspecifiedMatching +Orphanet:667662 Breast implant-associated anaplastic large cell lymphoma oboInOwl:hasDbXref icd11:2A90.B semapv:UnspecifiedMatching +Orphanet:667662 Breast implant-associated anaplastic large cell lymphoma oboInOwl:hasDbXref icd11:XH05D8 semapv:UnspecifiedMatching +Orphanet:667678 Intraoral basal cell carcinoma oboInOwl:hasDbXref ICD10:D00.0 semapv:UnspecifiedMatching +Orphanet:667678 Intraoral basal cell carcinoma oboInOwl:hasDbXref ICD10:D00.0 semapv:UnspecifiedMatching +Orphanet:667678 Intraoral basal cell carcinoma oboInOwl:hasDbXref icd11:2E60.0 semapv:UnspecifiedMatching Orphanet:668 Osteosarcoma oboInOwl:hasDbXref ICD10:C41.9 semapv:UnspecifiedMatching Orphanet:668 Osteosarcoma oboInOwl:hasDbXref ICD10:C41.9 semapv:UnspecifiedMatching Orphanet:668 Osteosarcoma oboInOwl:hasDbXref MESH:D012516 semapv:UnspecifiedMatching @@ -46488,6 +46864,7 @@ Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref MESH:C531 Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref UMLS:C2930799 semapv:UnspecifiedMatching Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref icd11:1A36 semapv:UnspecifiedMatching Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref icd11:1A36.0 semapv:UnspecifiedMatching +Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref icd11:1A36.00 semapv:UnspecifiedMatching Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref icd11:1A36.01 semapv:UnspecifiedMatching Orphanet:67 Amoebiasis due to Entamoeba histolytica oboInOwl:hasDbXref icd11:1A36.10 semapv:UnspecifiedMatching Orphanet:670 PIBIDS syndrome oboInOwl:hasDbXref OMIM:601675 semapv:UnspecifiedMatching @@ -46570,6 +46947,15 @@ Orphanet:672 Pallister-Hall syndrome oboInOwl:hasDbXref MESH:D054975 semapv:Unsp Orphanet:672 Pallister-Hall syndrome oboInOwl:hasDbXref OMIM:146510 semapv:UnspecifiedMatching Orphanet:672 Pallister-Hall syndrome oboInOwl:hasDbXref UMLS:C0265220 semapv:UnspecifiedMatching Orphanet:672 Pallister-Hall syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching +Orphanet:672842 guided entry of tail-anchored proteins factor 3, ATPase oboInOwl:hasDbXref ENSEMBL:ENSG00000198356 semapv:UnspecifiedMatching +Orphanet:672842 guided entry of tail-anchored proteins factor 3, ATPase oboInOwl:hasDbXref OMIM:601913 semapv:UnspecifiedMatching +Orphanet:672842 guided entry of tail-anchored proteins factor 3, ATPase oboInOwl:hasDbXref uniprot:O43681 semapv:UnspecifiedMatching +Orphanet:672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome oboInOwl:hasDbXref OMIM:615314 semapv:UnspecifiedMatching +Orphanet:672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching +Orphanet:672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome oboInOwl:hasDbXref OMIM:616602 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B50.0 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B50.0 semapv:UnspecifiedMatching Orphanet:673 Malaria oboInOwl:hasDbXref ICD10:B50.8 semapv:UnspecifiedMatching @@ -46611,6 +46997,11 @@ Orphanet:674 Accessory pancreas oboInOwl:hasDbXref ICD10:Q45.3 semapv:Unspecifie Orphanet:674 Accessory pancreas oboInOwl:hasDbXref MESH:C536003 semapv:UnspecifiedMatching Orphanet:674 Accessory pancreas oboInOwl:hasDbXref UMLS:C0266268 semapv:UnspecifiedMatching Orphanet:674 Accessory pancreas oboInOwl:hasDbXref icd11:LB21.2 semapv:UnspecifiedMatching +Orphanet:674653 Actinomyopathy-associated syndromic thrombocytopenia oboInOwl:hasDbXref OMIM:620475 semapv:UnspecifiedMatching +Orphanet:674734 lysine methyltransferase 5B oboInOwl:hasDbXref ENSEMBL:ENSG00000110066 semapv:UnspecifiedMatching +Orphanet:674734 lysine methyltransferase 5B oboInOwl:hasDbXref OMIM:610881 semapv:UnspecifiedMatching +Orphanet:674734 lysine methyltransferase 5B oboInOwl:hasDbXref uniprot:Q4FZB7 semapv:UnspecifiedMatching +Orphanet:674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency oboInOwl:hasDbXref OMIM:616744 semapv:UnspecifiedMatching Orphanet:675 Annular pancreas oboInOwl:hasDbXref ICD10:Q45.1 semapv:UnspecifiedMatching Orphanet:675 Annular pancreas oboInOwl:hasDbXref ICD10:Q45.1 semapv:UnspecifiedMatching Orphanet:675 Annular pancreas oboInOwl:hasDbXref MESH:C536376 semapv:UnspecifiedMatching @@ -46618,11 +47009,21 @@ Orphanet:675 Annular pancreas oboInOwl:hasDbXref MedDRA:10071757 semapv:Unspecif Orphanet:675 Annular pancreas oboInOwl:hasDbXref OMIM:167750 semapv:UnspecifiedMatching Orphanet:675 Annular pancreas oboInOwl:hasDbXref UMLS:C0149955 semapv:UnspecifiedMatching Orphanet:675 Annular pancreas oboInOwl:hasDbXref icd11:LB21.0 semapv:UnspecifiedMatching +Orphanet:675216 Spinocerebellar ataxia type 27B oboInOwl:hasDbXref OMIM:620174 semapv:UnspecifiedMatching +Orphanet:675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome oboInOwl:hasDbXref OMIM:301078 semapv:UnspecifiedMatching +Orphanet:675767 Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency oboInOwl:hasDbXref OMIM:618752 semapv:UnspecifiedMatching Orphanet:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching Orphanet:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref ICD10:K86.1 semapv:UnspecifiedMatching Orphanet:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref OMIM:167800 semapv:UnspecifiedMatching Orphanet:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref UMLS:C0238339 semapv:UnspecifiedMatching Orphanet:676 Hereditary chronic pancreatitis oboInOwl:hasDbXref icd11:DC32.2 semapv:UnspecifiedMatching +Orphanet:676039 Combined immunodeficiency due to FOXN1 haploinsufficiency oboInOwl:hasDbXref OMIM:618806 semapv:UnspecifiedMatching +Orphanet:676458 FosB proto-oncogene, AP-1 transcription factor subunit oboInOwl:hasDbXref ENSEMBL:ENSG00000125740 semapv:UnspecifiedMatching +Orphanet:676458 FosB proto-oncogene, AP-1 transcription factor subunit oboInOwl:hasDbXref OMIM:164772 semapv:UnspecifiedMatching +Orphanet:676458 FosB proto-oncogene, AP-1 transcription factor subunit oboInOwl:hasDbXref uniprot:P53539 semapv:UnspecifiedMatching +Orphanet:676489 RNA binding motif protein X-linked oboInOwl:hasDbXref ENSEMBL:ENSG00000147274 semapv:UnspecifiedMatching +Orphanet:676489 RNA binding motif protein X-linked oboInOwl:hasDbXref OMIM:300199 semapv:UnspecifiedMatching +Orphanet:676489 RNA binding motif protein X-linked oboInOwl:hasDbXref uniprot:P38159 semapv:UnspecifiedMatching Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref ICD10:C25.1 semapv:UnspecifiedMatching Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref MESH:C537162 semapv:UnspecifiedMatching @@ -46630,6 +47031,9 @@ Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref MedDRA:10073367 semapv:Unspeci Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref UMLS:C0334489 semapv:UnspecifiedMatching Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref icd11:2C10.0 semapv:UnspecifiedMatching Orphanet:677 Pancreatoblastoma oboInOwl:hasDbXref icd11:XH27L5 semapv:UnspecifiedMatching +Orphanet:677320 cyclin dependent kinase 8 oboInOwl:hasDbXref ENSEMBL:ENSG00000132964 semapv:UnspecifiedMatching +Orphanet:677320 cyclin dependent kinase 8 oboInOwl:hasDbXref OMIM:603184 semapv:UnspecifiedMatching +Orphanet:677320 cyclin dependent kinase 8 oboInOwl:hasDbXref uniprot:P49336 semapv:UnspecifiedMatching Orphanet:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:678 Papillon-Lefèvre syndrome oboInOwl:hasDbXref MESH:D010214 semapv:UnspecifiedMatching @@ -46722,7 +47126,7 @@ Orphanet:68402 Rare parkinsonian disorder oboInOwl:hasDbXref UMLS:C5680173 semap Orphanet:68411 Rare bone tumor oboInOwl:hasDbXref UMLS:C5681337 semapv:UnspecifiedMatching Orphanet:68415 Rare parathyroid disease and phosphocalcic metabolism anomaly oboInOwl:hasDbXref UMLS:C5681339 semapv:UnspecifiedMatching Orphanet:68416 Rare infectious disease oboInOwl:hasDbXref UMLS:C5681338 semapv:UnspecifiedMatching -Orphanet:68419 Vascular anomaly or angioma oboInOwl:hasDbXref UMLS:C5681318 semapv:UnspecifiedMatching +Orphanet:68419 Rare vascular anomaly oboInOwl:hasDbXref UMLS:C5681318 semapv:UnspecifiedMatching Orphanet:685 Hereditary spastic paraplegia oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:685 Hereditary spastic paraplegia oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:685 Hereditary spastic paraplegia oboInOwl:hasDbXref MESH:D015419 semapv:UnspecifiedMatching @@ -46836,6 +47240,7 @@ Orphanet:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref MESH:C53 Orphanet:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref OMIM:147480 semapv:UnspecifiedMatching Orphanet:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref OMIM:614972 semapv:UnspecifiedMatching Orphanet:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref UMLS:C0268318 semapv:UnspecifiedMatching +Orphanet:69665 Intrahepatic cholestasis of pregnancy oboInOwl:hasDbXref icd11:JA65.0 semapv:UnspecifiedMatching Orphanet:69723 Tyrosinemia type 3 oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching Orphanet:69723 Tyrosinemia type 3 oboInOwl:hasDbXref ICD10:E70.2 semapv:UnspecifiedMatching Orphanet:69723 Tyrosinemia type 3 oboInOwl:hasDbXref MedDRA:10069461 semapv:UnspecifiedMatching @@ -46858,6 +47263,7 @@ Orphanet:69737 Bosley-Salih-Alorainy syndrome oboInOwl:hasDbXref UMLS:C1832216 s Orphanet:69737 Bosley-Salih-Alorainy syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching Orphanet:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref ICD10:G96.8 semapv:UnspecifiedMatching +Orphanet:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref MESH:C535397 semapv:UnspecifiedMatching Orphanet:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref OMIM:601536 semapv:UnspecifiedMatching Orphanet:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref UMLS:C1832215 semapv:UnspecifiedMatching Orphanet:69739 Athabaskan brainstem dysgenesis syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching @@ -46938,13 +47344,7 @@ Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref OMIM:619065 semapv:UnspecifiedMatching Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref UMLS:C1857355 semapv:UnspecifiedMatching Orphanet:70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type oboInOwl:hasDbXref icd11:5C53.24 semapv:UnspecifiedMatching -Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref OMIM:256000 semapv:UnspecifiedMatching -Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref OMIM:618228 semapv:UnspecifiedMatching -Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref OMIM:618252 semapv:UnspecifiedMatching Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref UMLS:C5680116 semapv:UnspecifiedMatching -Orphanet:70474 Leigh syndrome with cardiomyopathy oboInOwl:hasDbXref icd11:5C53.24 semapv:UnspecifiedMatching Orphanet:70475 Radiation proctitis oboInOwl:hasDbXref ICD10:K62.7 semapv:UnspecifiedMatching Orphanet:70475 Radiation proctitis oboInOwl:hasDbXref ICD10:K62.7 semapv:UnspecifiedMatching Orphanet:70475 Radiation proctitis oboInOwl:hasDbXref MedDRA:10037766 semapv:UnspecifiedMatching @@ -47094,15 +47494,12 @@ Orphanet:710 Pfeiffer syndrome oboInOwl:hasDbXref MedDRA:10082289 semapv:Unspeci Orphanet:710 Pfeiffer syndrome oboInOwl:hasDbXref OMIM:101600 semapv:UnspecifiedMatching Orphanet:710 Pfeiffer syndrome oboInOwl:hasDbXref UMLS:C0220658 semapv:UnspecifiedMatching Orphanet:710 Pfeiffer syndrome oboInOwl:hasDbXref icd11:LD24.G0 semapv:UnspecifiedMatching -Orphanet:711 Glycogen storage disease due to phosphoglucomutase deficiency oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -Orphanet:711 Glycogen storage disease due to phosphoglucomutase deficiency oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching -Orphanet:711 Glycogen storage disease due to phosphoglucomutase deficiency oboInOwl:hasDbXref OMIM:614921 semapv:UnspecifiedMatching Orphanet:711 Glycogen storage disease due to phosphoglucomutase deficiency oboInOwl:hasDbXref UMLS:C2752015 semapv:UnspecifiedMatching Orphanet:71198 Rare pulmonary hypertension oboInOwl:hasDbXref UMLS:C5681268 semapv:UnspecifiedMatching Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency oboInOwl:hasDbXref OMIM:613470 semapv:UnspecifiedMatching -Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency oboInOwl:hasDbXref UMLS:C5680791 semapv:UnspecifiedMatching +Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency oboInOwl:hasDbXref UMLS:C0272064 semapv:UnspecifiedMatching Orphanet:712 Hemolytic anemia due to glucophosphate isomerase deficiency oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching Orphanet:71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly oboInOwl:hasDbXref UMLS:C5680114 semapv:UnspecifiedMatching Orphanet:71203 Autoimmune thrombocytopenia oboInOwl:hasDbXref MedDRA:10050245 semapv:UnspecifiedMatching @@ -47155,6 +47552,7 @@ Orphanet:71275 Rh deficiency syndrome oboInOwl:hasDbXref UMLS:C0272052 semapv:Un Orphanet:71275 Rh deficiency syndrome oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching Orphanet:71276 Silent sinus syndrome oboInOwl:hasDbXref ICD10:J34.8 semapv:UnspecifiedMatching Orphanet:71276 Silent sinus syndrome oboInOwl:hasDbXref ICD10:J34.8 semapv:UnspecifiedMatching +Orphanet:71276 Silent sinus syndrome oboInOwl:hasDbXref MedDRA:10075540 semapv:UnspecifiedMatching Orphanet:71276 Silent sinus syndrome oboInOwl:hasDbXref UMLS:C3698095 semapv:UnspecifiedMatching Orphanet:71276 Silent sinus syndrome oboInOwl:hasDbXref icd11:CA0B semapv:UnspecifiedMatching Orphanet:71277 Classic glucose transporter type 1 deficiency syndrome oboInOwl:hasDbXref ICD10:G40.4 semapv:UnspecifiedMatching @@ -47186,8 +47584,6 @@ Orphanet:71290 Familial platelet disorder with associated myeloid malignancy obo Orphanet:71290 Familial platelet disorder with associated myeloid malignancy oboInOwl:hasDbXref OMIM:601399 semapv:UnspecifiedMatching Orphanet:71290 Familial platelet disorder with associated myeloid malignancy oboInOwl:hasDbXref OMIM:616216 semapv:UnspecifiedMatching Orphanet:71290 Familial platelet disorder with associated myeloid malignancy oboInOwl:hasDbXref UMLS:C1832388 semapv:UnspecifiedMatching -Orphanet:71291 Hereditary vascular retinopathy oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching -Orphanet:71291 Hereditary vascular retinopathy oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency oboInOwl:hasDbXref OMIM:300653 semapv:UnspecifiedMatching @@ -47196,7 +47592,7 @@ Orphanet:713 Glycogen storage disease due to phosphoglycerate kinase 1 deficienc Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency oboInOwl:hasDbXref ICD10:D55.2 semapv:UnspecifiedMatching Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency oboInOwl:hasDbXref OMIM:222800 semapv:UnspecifiedMatching -Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency oboInOwl:hasDbXref UMLS:C5680790 semapv:UnspecifiedMatching +Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency oboInOwl:hasDbXref UMLS:C0272069 semapv:UnspecifiedMatching Orphanet:714 Hemolytic anemia due to diphosphoglycerate mutase deficiency oboInOwl:hasDbXref icd11:3A10.Y semapv:UnspecifiedMatching Orphanet:71493 Familial thrombocytosis oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching Orphanet:71493 Familial thrombocytosis oboInOwl:hasDbXref ICD10:D68.8 semapv:UnspecifiedMatching @@ -47370,8 +47766,6 @@ Orphanet:732 Polymyositis oboInOwl:hasDbXref UMLS:C0085655 semapv:UnspecifiedMat Orphanet:732 Polymyositis oboInOwl:hasDbXref icd11:4A41.1 semapv:UnspecifiedMatching Orphanet:73217 Müllerian aplasia oboInOwl:hasDbXref MESH:C537371 semapv:UnspecifiedMatching Orphanet:73217 Müllerian aplasia oboInOwl:hasDbXref UMLS:C0431637 semapv:UnspecifiedMatching -Orphanet:73220 X-linked intellectual disability-hypotonic face syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -Orphanet:73220 X-linked intellectual disability-hypotonic face syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching Orphanet:73220 X-linked intellectual disability-hypotonic face syndrome oboInOwl:hasDbXref OMIM:309580 semapv:UnspecifiedMatching Orphanet:73223 Global developmental delay-osteopenia-ectodermal defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:73223 Global developmental delay-osteopenia-ectodermal defect syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -47395,8 +47789,6 @@ Orphanet:73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndr Orphanet:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome oboInOwl:hasDbXref UMLS:C4304402 semapv:UnspecifiedMatching -Orphanet:73247 NON RARE IN EUROPE: Eosinophilic esophagitis oboInOwl:hasDbXref ICD10:K20 semapv:UnspecifiedMatching -Orphanet:73247 NON RARE IN EUROPE: Eosinophilic esophagitis oboInOwl:hasDbXref ICD10:K20 semapv:UnspecifiedMatching Orphanet:73247 NON RARE IN EUROPE: Eosinophilic esophagitis oboInOwl:hasDbXref icd11:DA24.1 semapv:UnspecifiedMatching Orphanet:73256 Central neurocytoma oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching Orphanet:73256 Central neurocytoma oboInOwl:hasDbXref ICD10:D33.0 semapv:UnspecifiedMatching @@ -47483,8 +47875,6 @@ Orphanet:735 Porokeratosis of Mibelli oboInOwl:hasDbXref OMIM:175800 semapv:Unsp Orphanet:735 Porokeratosis of Mibelli oboInOwl:hasDbXref OMIM:175900 semapv:UnspecifiedMatching Orphanet:735 Porokeratosis of Mibelli oboInOwl:hasDbXref UMLS:C0949506 semapv:UnspecifiedMatching Orphanet:735 Porokeratosis of Mibelli oboInOwl:hasDbXref icd11:ED52 semapv:UnspecifiedMatching -Orphanet:736 Palmoplantar porokeratosis of Mantoux oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -Orphanet:736 Palmoplantar porokeratosis of Mantoux oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:737 Porokeratosis plantaris palmaris et disseminata oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:737 Porokeratosis plantaris palmaris et disseminata oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:737 Porokeratosis plantaris palmaris et disseminata oboInOwl:hasDbXref OMIM:175850 semapv:UnspecifiedMatching @@ -47578,19 +47968,11 @@ Orphanet:750 Pseudoachondroplasia oboInOwl:hasDbXref MESH:C535819 semapv:Unspeci Orphanet:750 Pseudoachondroplasia oboInOwl:hasDbXref OMIM:177170 semapv:UnspecifiedMatching Orphanet:750 Pseudoachondroplasia oboInOwl:hasDbXref UMLS:C0410538 semapv:UnspecifiedMatching Orphanet:750 Pseudoachondroplasia oboInOwl:hasDbXref icd11:LD24.60 semapv:UnspecifiedMatching -Orphanet:751 NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -Orphanet:751 NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:75110 Myiasis oboInOwl:hasDbXref ICD10:B87 semapv:UnspecifiedMatching Orphanet:75110 Myiasis oboInOwl:hasDbXref ICD10:B87 semapv:UnspecifiedMatching Orphanet:75110 Myiasis oboInOwl:hasDbXref MESH:D009198 semapv:UnspecifiedMatching Orphanet:75110 Myiasis oboInOwl:hasDbXref MedDRA:10028586 semapv:UnspecifiedMatching Orphanet:75110 Myiasis oboInOwl:hasDbXref UMLS:C0027030 semapv:UnspecifiedMatching -Orphanet:75110 Myiasis oboInOwl:hasDbXref icd11:1G01 semapv:UnspecifiedMatching -Orphanet:75110 Myiasis oboInOwl:hasDbXref icd11:1G01.0 semapv:UnspecifiedMatching -Orphanet:75110 Myiasis oboInOwl:hasDbXref icd11:1G01.1 semapv:UnspecifiedMatching -Orphanet:75110 Myiasis oboInOwl:hasDbXref icd11:1G01.2 semapv:UnspecifiedMatching -Orphanet:75110 Myiasis oboInOwl:hasDbXref icd11:1G01.3 semapv:UnspecifiedMatching -Orphanet:75110 Myiasis oboInOwl:hasDbXref icd11:1G01.Y semapv:UnspecifiedMatching Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref ICD10:E29.1 semapv:UnspecifiedMatching Orphanet:752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency oboInOwl:hasDbXref MESH:C537805 semapv:UnspecifiedMatching @@ -47633,8 +48015,10 @@ Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboI Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref OMIM:609993 semapv:UnspecifiedMatching Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref UMLS:C4302815 semapv:UnspecifiedMatching Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching -Orphanet:75326 Retinal arterial tortuosity oboInOwl:hasDbXref OMIM:180000 semapv:UnspecifiedMatching -Orphanet:75326 Retinal arterial tortuosity oboInOwl:hasDbXref UMLS:C0423401 semapv:UnspecifiedMatching +Orphanet:75326 Familial isolated retinal arteriolar tortuosity oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:75326 Familial isolated retinal arteriolar tortuosity oboInOwl:hasDbXref ICD10:H35.0 semapv:UnspecifiedMatching +Orphanet:75326 Familial isolated retinal arteriolar tortuosity oboInOwl:hasDbXref OMIM:180000 semapv:UnspecifiedMatching +Orphanet:75326 Familial isolated retinal arteriolar tortuosity oboInOwl:hasDbXref UMLS:C0423401 semapv:UnspecifiedMatching Orphanet:75327 North Carolina macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:75327 North Carolina macular dystrophy oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:75327 North Carolina macular dystrophy oboInOwl:hasDbXref MESH:C537835 semapv:UnspecifiedMatching @@ -47763,11 +48147,6 @@ Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref OMIM:614495 semap Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref OMIM:614496 semapv:UnspecifiedMatching Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref UMLS:C1449844 semapv:UnspecifiedMatching Orphanet:757 Pseudohypoaldosteronism type 2 oboInOwl:hasDbXref icd11:BA04.Y semapv:UnspecifiedMatching -Orphanet:75789 SIBIDS syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching -Orphanet:75789 SIBIDS syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching -Orphanet:75790 Pollitt syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching -Orphanet:75790 Pollitt syndrome oboInOwl:hasDbXref ICD10:L67.8 semapv:UnspecifiedMatching -Orphanet:75790 Pollitt syndrome oboInOwl:hasDbXref OMIM:234050 semapv:UnspecifiedMatching Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:758 Pseudoxanthoma elasticum oboInOwl:hasDbXref MESH:D011561 semapv:UnspecifiedMatching @@ -47890,18 +48269,6 @@ Orphanet:770 Rabies oboInOwl:hasDbXref MESH:D011818 semapv:UnspecifiedMatching Orphanet:770 Rabies oboInOwl:hasDbXref MedDRA:10037742 semapv:UnspecifiedMatching Orphanet:770 Rabies oboInOwl:hasDbXref UMLS:C0034494 semapv:UnspecifiedMatching Orphanet:770 Rabies oboInOwl:hasDbXref icd11:1C82 semapv:UnspecifiedMatching -Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.0 semapv:UnspecifiedMatching -Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.0 semapv:UnspecifiedMatching -Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.2 semapv:UnspecifiedMatching -Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.2 semapv:UnspecifiedMatching -Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.3 semapv:UnspecifiedMatching -Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.3 semapv:UnspecifiedMatching -Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.4 semapv:UnspecifiedMatching -Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.4 semapv:UnspecifiedMatching -Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.5 semapv:UnspecifiedMatching -Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.5 semapv:UnspecifiedMatching -Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.8 semapv:UnspecifiedMatching -Orphanet:771 NON RARE IN EUROPE: Ulcerative colitis oboInOwl:hasDbXref ICD10:K51.8 semapv:UnspecifiedMatching Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref ICD10:G60.1 semapv:UnspecifiedMatching Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref ICD10:G60.1 semapv:UnspecifiedMatching Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref MESH:D052919 semapv:UnspecifiedMatching @@ -47919,8 +48286,6 @@ Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref OMIM:617370 semapv:Unsp Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref UMLS:C0282527 semapv:UnspecifiedMatching Orphanet:772 Infantile Refsum disease oboInOwl:hasDbXref icd11:5C57.1 semapv:UnspecifiedMatching Orphanet:77240 Primary lymphedema oboInOwl:hasDbXref icd11:BD93.0 semapv:UnspecifiedMatching -Orphanet:77243 NON RARE IN EUROPE: Lipedema oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching -Orphanet:77243 NON RARE IN EUROPE: Lipedema oboInOwl:hasDbXref ICD10:E88.2 semapv:UnspecifiedMatching Orphanet:77243 NON RARE IN EUROPE: Lipedema oboInOwl:hasDbXref OMIM:614103 semapv:UnspecifiedMatching Orphanet:77258 Trichorhinophalangeal syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:77258 Trichorhinophalangeal syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching @@ -48005,9 +48370,6 @@ Orphanet:77301 Monosomy 9q22.3 oboInOwl:hasDbXref ICD10:Q93.5 semapv:Unspecified Orphanet:77301 Monosomy 9q22.3 oboInOwl:hasDbXref MESH:C579873 semapv:UnspecifiedMatching Orphanet:77301 Monosomy 9q22.3 oboInOwl:hasDbXref UMLS:C3711390 semapv:UnspecifiedMatching Orphanet:77301 Monosomy 9q22.3 oboInOwl:hasDbXref icd11:LD44.90 semapv:UnspecifiedMatching -Orphanet:77302 Oculo-oto-facial dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:77302 Oculo-oto-facial dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:77302 Oculo-oto-facial dysplasia oboInOwl:hasDbXref OMIM:608572 semapv:UnspecifiedMatching Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref ICD10:I78.0 semapv:UnspecifiedMatching Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref ICD10:I78.0 semapv:UnspecifiedMatching Orphanet:774 Hereditary hemorrhagic telangiectasia oboInOwl:hasDbXref MESH:D013683 semapv:UnspecifiedMatching @@ -48101,10 +48463,7 @@ Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref ICD10:B76.9 semapv:UnspecifiedMat Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref MESH:D000724 semapv:UnspecifiedMatching Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref MedDRA:10002255 semapv:UnspecifiedMatching Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref UMLS:C0002831 semapv:UnspecifiedMatching -Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref icd11:1F68 semapv:UnspecifiedMatching Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref icd11:1F68.0 semapv:UnspecifiedMatching -Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref icd11:1F68.1 semapv:UnspecifiedMatching -Orphanet:78 Ankylostomiasis oboInOwl:hasDbXref icd11:1F68.2 semapv:UnspecifiedMatching Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref ICD10:C49.9 semapv:UnspecifiedMatching Orphanet:780 Rhabdomyosarcoma oboInOwl:hasDbXref MESH:D012208 semapv:UnspecifiedMatching @@ -48163,10 +48522,8 @@ Orphanet:790 Retinoblastoma oboInOwl:hasDbXref MedDRA:10038916 semapv:Unspecifie Orphanet:790 Retinoblastoma oboInOwl:hasDbXref OMIM:180200 semapv:UnspecifiedMatching Orphanet:790 Retinoblastoma oboInOwl:hasDbXref UMLS:C0035335 semapv:UnspecifiedMatching Orphanet:790 Retinoblastoma oboInOwl:hasDbXref icd11:2D02.2 semapv:UnspecifiedMatching -Orphanet:79022 Simpson-Golabi-Behmel syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:79022 Simpson-Golabi-Behmel syndrome type 2 oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:79022 Simpson-Golabi-Behmel syndrome type 2 oboInOwl:hasDbXref OMIM:300209 semapv:UnspecifiedMatching Orphanet:79022 Simpson-Golabi-Behmel syndrome type 2 oboInOwl:hasDbXref UMLS:C1846175 semapv:UnspecifiedMatching +Orphanet:79062 Disorder of amino acid and other organic acid metabolism oboInOwl:hasDbXref UMLS:C0342666 semapv:UnspecifiedMatching Orphanet:79076 Juvenile polyposis of infancy oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:79076 Juvenile polyposis of infancy oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:79076 Juvenile polyposis of infancy oboInOwl:hasDbXref OMIM:175050 semapv:UnspecifiedMatching @@ -48195,6 +48552,7 @@ Orphanet:79085 AKT2-related familial partial lipodystrophy oboInOwl:hasDbXref UM Orphanet:79085 AKT2-related familial partial lipodystrophy oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching Orphanet:79086 Acquired generalized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:79086 Acquired generalized lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching +Orphanet:79086 Acquired generalized lipodystrophy oboInOwl:hasDbXref MedDRA:10087376 semapv:UnspecifiedMatching Orphanet:79086 Acquired generalized lipodystrophy oboInOwl:hasDbXref UMLS:C0271693 semapv:UnspecifiedMatching Orphanet:79086 Acquired generalized lipodystrophy oboInOwl:hasDbXref icd11:5A44 semapv:UnspecifiedMatching Orphanet:79087 Acquired partial lipodystrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching @@ -48475,8 +48833,6 @@ Orphanet:79141 Hereditary painful callosities oboInOwl:hasDbXref MESH:C566180 se Orphanet:79141 Hereditary painful callosities oboInOwl:hasDbXref OMIM:114140 semapv:UnspecifiedMatching Orphanet:79141 Hereditary painful callosities oboInOwl:hasDbXref UMLS:C1861964 semapv:UnspecifiedMatching Orphanet:79141 Hereditary painful callosities oboInOwl:hasDbXref icd11:EC20.31 semapv:UnspecifiedMatching -Orphanet:79142 NON RARE IN EUROPE: Familial Dupuytren contracture oboInOwl:hasDbXref ICD10:M72.0 semapv:UnspecifiedMatching -Orphanet:79142 NON RARE IN EUROPE: Familial Dupuytren contracture oboInOwl:hasDbXref ICD10:M72.0 semapv:UnspecifiedMatching Orphanet:79143 Isolated congenital anonychia oboInOwl:hasDbXref ICD10:Q84.3 semapv:UnspecifiedMatching Orphanet:79143 Isolated congenital anonychia oboInOwl:hasDbXref ICD10:Q84.3 semapv:UnspecifiedMatching Orphanet:79143 Isolated congenital anonychia oboInOwl:hasDbXref MESH:C536377 semapv:UnspecifiedMatching @@ -48606,7 +48962,9 @@ Orphanet:79173 Disorder of methionine cycle and sulfur amino acid metabolism obo Orphanet:79174 Disorder of fatty acid oxidation and ketone body metabolism oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:79174 Disorder of fatty acid oxidation and ketone body metabolism oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:79174 Disorder of fatty acid oxidation and ketone body metabolism oboInOwl:hasDbXref UMLS:C5681281 semapv:UnspecifiedMatching +Orphanet:79175 Disorder of gamma-aminobutyric acid metabolism oboInOwl:hasDbXref UMLS:C4702813 semapv:UnspecifiedMatching Orphanet:79175 Disorder of gamma-aminobutyric acid metabolism oboInOwl:hasDbXref icd11:5C59.1 semapv:UnspecifiedMatching +Orphanet:79177 Gluconeogenesis disorder oboInOwl:hasDbXref UMLS:C1398833 semapv:UnspecifiedMatching Orphanet:79178 Glucose transport disorder oboInOwl:hasDbXref UMLS:C5389835 semapv:UnspecifiedMatching Orphanet:79179 Disorder of glycerol metabolism oboInOwl:hasDbXref UMLS:C0342762 semapv:UnspecifiedMatching Orphanet:79179 Disorder of glycerol metabolism oboInOwl:hasDbXref icd11:5C51.1 semapv:UnspecifiedMatching @@ -48617,6 +48975,7 @@ Orphanet:79183 Disorder of ketolysis oboInOwl:hasDbXref icd11:5C52.02 semapv:Uns Orphanet:79185 Disorder of ornithine or proline metabolism oboInOwl:hasDbXref UMLS:C5681278 semapv:UnspecifiedMatching Orphanet:79186 Disorder of pentose phosphate metabolism oboInOwl:hasDbXref UMLS:C5681279 semapv:UnspecifiedMatching Orphanet:79186 Disorder of pentose phosphate metabolism oboInOwl:hasDbXref icd11:5C51.0 semapv:UnspecifiedMatching +Orphanet:79187 Disorder of peptide metabolism oboInOwl:hasDbXref UMLS:C4736193 semapv:UnspecifiedMatching Orphanet:79187 Disorder of peptide metabolism oboInOwl:hasDbXref icd11:5C50.F semapv:UnspecifiedMatching Orphanet:79188 Peroxisomal beta-oxidation disorder oboInOwl:hasDbXref UMLS:C5681280 semapv:UnspecifiedMatching Orphanet:79189 Peroxisome biogenesis disorder oboInOwl:hasDbXref MESH:C536664 semapv:UnspecifiedMatching @@ -48785,6 +49144,7 @@ Orphanet:79254 Classic phenylketonuria oboInOwl:hasDbXref icd11:5C50.00 semapv:U Orphanet:79255 GM1 gangliosidosis type 1 oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching Orphanet:79255 GM1 gangliosidosis type 1 oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching Orphanet:79255 GM1 gangliosidosis type 1 oboInOwl:hasDbXref OMIM:230500 semapv:UnspecifiedMatching +Orphanet:79255 GM1 gangliosidosis type 1 oboInOwl:hasDbXref UMLS:C0268271 semapv:UnspecifiedMatching Orphanet:79255 GM1 gangliosidosis type 1 oboInOwl:hasDbXref icd11:5C56.00 semapv:UnspecifiedMatching Orphanet:79256 GM1 gangliosidosis type 2 oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching Orphanet:79256 GM1 gangliosidosis type 2 oboInOwl:hasDbXref ICD10:E75.1 semapv:UnspecifiedMatching @@ -48808,39 +49168,8 @@ Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib oboInOwl:hasDbXref OMIM:232240 semapv:UnspecifiedMatching Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib oboInOwl:hasDbXref UMLS:C0268146 semapv:UnspecifiedMatching Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib oboInOwl:hasDbXref icd11:5C51.3 semapv:UnspecifiedMatching -Orphanet:79260 Glycogen storage disease type 1c oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -Orphanet:79260 Glycogen storage disease type 1c oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:79260 Glycogen storage disease type 1c oboInOwl:hasDbXref UMLS:C0342749 semapv:UnspecifiedMatching -Orphanet:79261 Glycogen storage disease type 1d oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching -Orphanet:79261 Glycogen storage disease type 1d oboInOwl:hasDbXref ICD10:E74.0 semapv:UnspecifiedMatching Orphanet:79261 Glycogen storage disease type 1d oboInOwl:hasDbXref UMLS:C0342750 semapv:UnspecifiedMatching -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:162350 semapv:UnspecifiedMatching -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:204300 semapv:UnspecifiedMatching -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256730 semapv:UnspecifiedMatching -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:601780 semapv:UnspecifiedMatching -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610127 semapv:UnspecifiedMatching -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:614706 semapv:UnspecifiedMatching -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:615362 semapv:UnspecifiedMatching -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0022797 semapv:UnspecifiedMatching -Orphanet:79262 Adult neuronal ceroid lipofuscinosis oboInOwl:hasDbXref icd11:5C56.1 semapv:UnspecifiedMatching -Orphanet:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -Orphanet:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -Orphanet:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256730 semapv:UnspecifiedMatching -Orphanet:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0268281 semapv:UnspecifiedMatching -Orphanet:79263 Infantile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref icd11:5C56.1 semapv:UnspecifiedMatching -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref ICD10:E75.4 semapv:UnspecifiedMatching -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref MedDRA:10052073 semapv:UnspecifiedMatching -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:204200 semapv:UnspecifiedMatching -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:204500 semapv:UnspecifiedMatching -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:256730 semapv:UnspecifiedMatching -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:600143 semapv:UnspecifiedMatching -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:609055 semapv:UnspecifiedMatching -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref OMIM:610127 semapv:UnspecifiedMatching -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref UMLS:C0751383 semapv:UnspecifiedMatching -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis oboInOwl:hasDbXref icd11:5C56.1 semapv:UnspecifiedMatching Orphanet:79269 Sanfilippo syndrome type A oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:79269 Sanfilippo syndrome type A oboInOwl:hasDbXref ICD10:E76.2 semapv:UnspecifiedMatching Orphanet:79269 Sanfilippo syndrome type A oboInOwl:hasDbXref OMIM:252900 semapv:UnspecifiedMatching @@ -48878,7 +49207,6 @@ Orphanet:79277 Congenital erythropoietic porphyria oboInOwl:hasDbXref ICD10:E80. Orphanet:79277 Congenital erythropoietic porphyria oboInOwl:hasDbXref ICD10:E80.0 semapv:UnspecifiedMatching Orphanet:79277 Congenital erythropoietic porphyria oboInOwl:hasDbXref MESH:D017092 semapv:UnspecifiedMatching Orphanet:79277 Congenital erythropoietic porphyria oboInOwl:hasDbXref OMIM:263700 semapv:UnspecifiedMatching -Orphanet:79277 Congenital erythropoietic porphyria oboInOwl:hasDbXref UMLS:C0162530 semapv:UnspecifiedMatching Orphanet:79277 Congenital erythropoietic porphyria oboInOwl:hasDbXref icd11:5C58.12 semapv:UnspecifiedMatching Orphanet:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref ICD10:E80.0 semapv:UnspecifiedMatching Orphanet:79278 Autosomal erythropoietic protoporphyria oboInOwl:hasDbXref ICD10:E80.0 semapv:UnspecifiedMatching @@ -48919,8 +49247,6 @@ Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF oboInOwl:has Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF oboInOwl:hasDbXref OMIM:277380 semapv:UnspecifiedMatching Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF oboInOwl:hasDbXref UMLS:C1848578 semapv:UnspecifiedMatching Orphanet:79284 Methylmalonic acidemia with homocystinuria type cblF oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching -Orphanet:79289 Niemann-Pick disease type D oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching -Orphanet:79289 Niemann-Pick disease type D oboInOwl:hasDbXref ICD10:E75.2 semapv:UnspecifiedMatching Orphanet:79289 Niemann-Pick disease type D oboInOwl:hasDbXref UMLS:C0268247 semapv:UnspecifiedMatching Orphanet:79292 Fish-eye disease oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching Orphanet:79292 Fish-eye disease oboInOwl:hasDbXref ICD10:E78.6 semapv:UnspecifiedMatching @@ -48977,20 +49303,24 @@ Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 oboInOwl:has Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 oboInOwl:hasDbXref ICD10:K76.8 semapv:UnspecifiedMatching Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 oboInOwl:hasDbXref MESH:C535933 semapv:UnspecifiedMatching Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 oboInOwl:hasDbXref OMIM:211600 semapv:UnspecifiedMatching +Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 oboInOwl:hasDbXref UMLS:C4551898 semapv:UnspecifiedMatching Orphanet:79306 Progressive familial intrahepatic cholestasis type 1 oboInOwl:hasDbXref icd11:5C58.03 semapv:UnspecifiedMatching Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA oboInOwl:hasDbXref MESH:C537360 semapv:UnspecifiedMatching Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA oboInOwl:hasDbXref OMIM:251100 semapv:UnspecifiedMatching +Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA oboInOwl:hasDbXref UMLS:C1855109 semapv:UnspecifiedMatching Orphanet:79310 Vitamin B12-responsive methylmalonic acidemia type cblA oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB oboInOwl:hasDbXref MESH:C537361 semapv:UnspecifiedMatching Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB oboInOwl:hasDbXref OMIM:251110 semapv:UnspecifiedMatching +Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB oboInOwl:hasDbXref UMLS:C1855102 semapv:UnspecifiedMatching Orphanet:79311 Vitamin B12-responsive methylmalonic acidemia type cblB oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- oboInOwl:hasDbXref ICD10:E71.1 semapv:UnspecifiedMatching Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- oboInOwl:hasDbXref OMIM:251000 semapv:UnspecifiedMatching +Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- oboInOwl:hasDbXref UMLS:C0342719 semapv:UnspecifiedMatching Orphanet:79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- oboInOwl:hasDbXref icd11:5C50.E0 semapv:UnspecifiedMatching Orphanet:79314 L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching Orphanet:79314 L-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching @@ -49151,6 +49481,7 @@ Orphanet:79367 Syndromic hair shaft abnormality oboInOwl:hasDbXref UMLS:C5681478 Orphanet:79368 Nail anomaly oboInOwl:hasDbXref MedDRA:10028684 semapv:UnspecifiedMatching Orphanet:79369 Isolated nail anomaly oboInOwl:hasDbXref UMLS:C5681477 semapv:UnspecifiedMatching Orphanet:79370 Syndromic nail anomaly oboInOwl:hasDbXref UMLS:C5681480 semapv:UnspecifiedMatching +Orphanet:79372 Sebaceous gland anomaly oboInOwl:hasDbXref UMLS:C1387995 semapv:UnspecifiedMatching Orphanet:79373 Ectodermal dysplasia syndrome oboInOwl:hasDbXref MESH:D004476 semapv:UnspecifiedMatching Orphanet:79373 Ectodermal dysplasia syndrome oboInOwl:hasDbXref MedDRA:10010452 semapv:UnspecifiedMatching Orphanet:79373 Ectodermal dysplasia syndrome oboInOwl:hasDbXref UMLS:C0013575 semapv:UnspecifiedMatching @@ -49260,8 +49591,6 @@ Orphanet:79406 Late-onset junctional epidermolysis bullosa oboInOwl:hasDbXref IC Orphanet:79406 Late-onset junctional epidermolysis bullosa oboInOwl:hasDbXref OMIM:619787 semapv:UnspecifiedMatching Orphanet:79406 Late-onset junctional epidermolysis bullosa oboInOwl:hasDbXref UMLS:C4304724 semapv:UnspecifiedMatching Orphanet:79406 Late-onset junctional epidermolysis bullosa oboInOwl:hasDbXref icd11:EC31 semapv:UnspecifiedMatching -Orphanet:79407 Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching -Orphanet:79407 Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form oboInOwl:hasDbXref ICD10:Q81.2 semapv:UnspecifiedMatching Orphanet:79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form oboInOwl:hasDbXref OMIM:226600 semapv:UnspecifiedMatching @@ -49351,15 +49680,11 @@ Orphanet:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref MESH:D011556 se Orphanet:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref OMIM:612463 semapv:UnspecifiedMatching Orphanet:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref UMLS:C0033835 semapv:UnspecifiedMatching Orphanet:79445 Pseudopseudohypoparathyroidism oboInOwl:hasDbXref icd11:5A50.1 semapv:UnspecifiedMatching -Orphanet:79446 Multiple pterygium syndrome, Aslan type oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching -Orphanet:79446 Multiple pterygium syndrome, Aslan type oboInOwl:hasDbXref ICD10:Q87.2 semapv:UnspecifiedMatching Orphanet:79447 X-linked lethal multiple pterygium syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching Orphanet:79447 X-linked lethal multiple pterygium syndrome oboInOwl:hasDbXref ICD10:Q79.8 semapv:UnspecifiedMatching Orphanet:79447 X-linked lethal multiple pterygium syndrome oboInOwl:hasDbXref OMIM:312150 semapv:UnspecifiedMatching Orphanet:79447 X-linked lethal multiple pterygium syndrome oboInOwl:hasDbXref UMLS:C4706472 semapv:UnspecifiedMatching Orphanet:79447 X-linked lethal multiple pterygium syndrome oboInOwl:hasDbXref icd11:LD26.40 semapv:UnspecifiedMatching -Orphanet:79450 Non-hereditary congenital primary lymphedema oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching -Orphanet:79450 Non-hereditary congenital primary lymphedema oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching Orphanet:79452 Milroy disease oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching Orphanet:79452 Milroy disease oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching Orphanet:79452 Milroy disease oboInOwl:hasDbXref OMIM:153100 semapv:UnspecifiedMatching @@ -49387,8 +49712,6 @@ Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref MedDRA:10 Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref OMIM:154800 semapv:UnspecifiedMatching Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref UMLS:C0042111 semapv:UnspecifiedMatching Orphanet:79457 Maculopapular cutaneous mastocytosis oboInOwl:hasDbXref icd11:2A21.10 semapv:UnspecifiedMatching -Orphanet:79458 Oley syndrome oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching -Orphanet:79458 Oley syndrome oboInOwl:hasDbXref ICD10:L98.8 semapv:UnspecifiedMatching Orphanet:79466 Inflammatory linear verrucous epidermal nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching Orphanet:79466 Inflammatory linear verrucous epidermal nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching Orphanet:79466 Inflammatory linear verrucous epidermal nevus oboInOwl:hasDbXref UMLS:C0473574 semapv:UnspecifiedMatching @@ -49400,12 +49723,12 @@ Orphanet:79467 Verrucous nevus oboInOwl:hasDbXref icd11:LC00.Y semapv:Unspecifie Orphanet:79468 Acanthokeratolytic verrucous nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching Orphanet:79468 Acanthokeratolytic verrucous nevus oboInOwl:hasDbXref ICD10:Q82.5 semapv:UnspecifiedMatching Orphanet:79468 Acanthokeratolytic verrucous nevus oboInOwl:hasDbXref UMLS:C5681486 semapv:UnspecifiedMatching -Orphanet:79473 Porphyria variegata oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching -Orphanet:79473 Porphyria variegata oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching -Orphanet:79473 Porphyria variegata oboInOwl:hasDbXref MESH:D046350 semapv:UnspecifiedMatching -Orphanet:79473 Porphyria variegata oboInOwl:hasDbXref OMIM:176200 semapv:UnspecifiedMatching -Orphanet:79473 Porphyria variegata oboInOwl:hasDbXref UMLS:C0162532 semapv:UnspecifiedMatching -Orphanet:79473 Porphyria variegata oboInOwl:hasDbXref icd11:5C58.13 semapv:UnspecifiedMatching +Orphanet:79473 Variegate porphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching +Orphanet:79473 Variegate porphyria oboInOwl:hasDbXref ICD10:E80.2 semapv:UnspecifiedMatching +Orphanet:79473 Variegate porphyria oboInOwl:hasDbXref MESH:D046350 semapv:UnspecifiedMatching +Orphanet:79473 Variegate porphyria oboInOwl:hasDbXref OMIM:176200 semapv:UnspecifiedMatching +Orphanet:79473 Variegate porphyria oboInOwl:hasDbXref UMLS:C0162532 semapv:UnspecifiedMatching +Orphanet:79473 Variegate porphyria oboInOwl:hasDbXref icd11:5C58.13 semapv:UnspecifiedMatching Orphanet:79474 Atypical Werner syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:79474 Atypical Werner syndrome oboInOwl:hasDbXref ICD10:E34.8 semapv:UnspecifiedMatching Orphanet:79474 Atypical Werner syndrome oboInOwl:hasDbXref UMLS:C4275075 semapv:UnspecifiedMatching @@ -49443,8 +49766,6 @@ Orphanet:79481 Pemphigus foliaceus oboInOwl:hasDbXref ICD10:L10.2 semapv:Unspeci Orphanet:79481 Pemphigus foliaceus oboInOwl:hasDbXref MedDRA:10057069 semapv:UnspecifiedMatching Orphanet:79481 Pemphigus foliaceus oboInOwl:hasDbXref UMLS:C0263313 semapv:UnspecifiedMatching Orphanet:79481 Pemphigus foliaceus oboInOwl:hasDbXref icd11:EB40.1 semapv:UnspecifiedMatching -Orphanet:79482 Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -Orphanet:79482 Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:79482 Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:304200 semapv:UnspecifiedMatching Orphanet:79482 Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C0795848 semapv:UnspecifiedMatching Orphanet:79483 Phakomatosis cesioflammea oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching @@ -49459,8 +49780,6 @@ Orphanet:79485 Phakomatosis spilorosea oboInOwl:hasDbXref ICD10:Q85.8 semapv:Uns Orphanet:79485 Phakomatosis spilorosea oboInOwl:hasDbXref ICD10:Q85.8 semapv:UnspecifiedMatching Orphanet:79485 Phakomatosis spilorosea oboInOwl:hasDbXref UMLS:C3839763 semapv:UnspecifiedMatching Orphanet:79485 Phakomatosis spilorosea oboInOwl:hasDbXref icd11:LD2D.Y semapv:UnspecifiedMatching -Orphanet:79486 Cystic hygroma oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching -Orphanet:79486 Cystic hygroma oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching Orphanet:79486 Cystic hygroma oboInOwl:hasDbXref OMIM:257350 semapv:UnspecifiedMatching Orphanet:79489 Macrocystic lymphatic malformation oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching Orphanet:79489 Macrocystic lymphatic malformation oboInOwl:hasDbXref ICD10:D18.1 semapv:UnspecifiedMatching @@ -49526,8 +49845,6 @@ Orphanet:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref MESH:C5360 Orphanet:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref OMIM:146590 semapv:UnspecifiedMatching Orphanet:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref UMLS:C1840296 semapv:UnspecifiedMatching Orphanet:79503 Ichthyosis hystrix of Curth-Macklin oboInOwl:hasDbXref icd11:EC20.03 semapv:UnspecifiedMatching -Orphanet:79504 Ichthyosis hystrix gravior oboInOwl:hasDbXref ICD10:Q80.0 semapv:UnspecifiedMatching -Orphanet:79504 Ichthyosis hystrix gravior oboInOwl:hasDbXref ICD10:Q80.0 semapv:UnspecifiedMatching Orphanet:79504 Ichthyosis hystrix gravior oboInOwl:hasDbXref MESH:C536087 semapv:UnspecifiedMatching Orphanet:79504 Ichthyosis hystrix gravior oboInOwl:hasDbXref OMIM:146600 semapv:UnspecifiedMatching Orphanet:79504 Ichthyosis hystrix gravior oboInOwl:hasDbXref UMLS:C0432311 semapv:UnspecifiedMatching @@ -49673,10 +49990,7 @@ Orphanet:806 Scott syndrome oboInOwl:hasDbXref MESH:C563120 semapv:UnspecifiedMa Orphanet:806 Scott syndrome oboInOwl:hasDbXref OMIM:262890 semapv:UnspecifiedMatching Orphanet:806 Scott syndrome oboInOwl:hasDbXref UMLS:C0796149 semapv:UnspecifiedMatching Orphanet:806 Scott syndrome oboInOwl:hasDbXref icd11:3B62.Y semapv:UnspecifiedMatching -Orphanet:807 Sebastian syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching -Orphanet:807 Sebastian syndrome oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching Orphanet:807 Sebastian syndrome oboInOwl:hasDbXref MESH:C537531 semapv:UnspecifiedMatching -Orphanet:807 Sebastian syndrome oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching Orphanet:807 Sebastian syndrome oboInOwl:hasDbXref UMLS:C1854520 semapv:UnspecifiedMatching Orphanet:808 Seckel syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:808 Seckel syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching @@ -49697,7 +50011,7 @@ Orphanet:809 Mixed connective tissue disease oboInOwl:hasDbXref ICD10:M35.1 sema Orphanet:809 Mixed connective tissue disease oboInOwl:hasDbXref MESH:D008947 semapv:UnspecifiedMatching Orphanet:809 Mixed connective tissue disease oboInOwl:hasDbXref MedDRA:10027754 semapv:UnspecifiedMatching Orphanet:809 Mixed connective tissue disease oboInOwl:hasDbXref UMLS:C0026272 semapv:UnspecifiedMatching -Orphanet:809 Mixed connective tissue disease oboInOwl:hasDbXref icd11:1A30 semapv:UnspecifiedMatching +Orphanet:809 Mixed connective tissue disease oboInOwl:hasDbXref icd11:4A43.3 semapv:UnspecifiedMatching Orphanet:81 Antisynthetase syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching Orphanet:81 Antisynthetase syndrome oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching Orphanet:81 Antisynthetase syndrome oboInOwl:hasDbXref MESH:C537778 semapv:UnspecifiedMatching @@ -49777,8 +50091,6 @@ Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref MedDRA:10053841 semapv:Unspecif Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref OMIM:182410 semapv:UnspecifiedMatching Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref UMLS:C0282492 semapv:UnspecifiedMatching Orphanet:820 Sneddon syndrome oboInOwl:hasDbXref icd11:4A44.6 semapv:UnspecifiedMatching -Orphanet:82004 Ehlers-Danlos syndrome with periventricular heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching -Orphanet:82004 Ehlers-Danlos syndrome with periventricular heterotopia oboInOwl:hasDbXref ICD10:Q04.8 semapv:UnspecifiedMatching Orphanet:82004 Ehlers-Danlos syndrome with periventricular heterotopia oboInOwl:hasDbXref UMLS:C1845235 semapv:UnspecifiedMatching Orphanet:821 Sotos syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching Orphanet:821 Sotos syndrome oboInOwl:hasDbXref ICD10:Q87.3 semapv:UnspecifiedMatching @@ -49866,8 +50178,6 @@ Orphanet:83 Antley-Bixler syndrome oboInOwl:hasDbXref MedDRA:10083864 semapv:Uns Orphanet:83 Antley-Bixler syndrome oboInOwl:hasDbXref OMIM:207410 semapv:UnspecifiedMatching Orphanet:83 Antley-Bixler syndrome oboInOwl:hasDbXref UMLS:C5234850 semapv:UnspecifiedMatching Orphanet:83 Antley-Bixler syndrome oboInOwl:hasDbXref icd11:LD24.GY semapv:UnspecifiedMatching -Orphanet:830 NON RARE IN EUROPE: Stuccokeratosis oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching -Orphanet:830 NON RARE IN EUROPE: Stuccokeratosis oboInOwl:hasDbXref ICD10:D23.9 semapv:UnspecifiedMatching Orphanet:831 Congenital cervical spinal stenosis oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching Orphanet:831 Congenital cervical spinal stenosis oboInOwl:hasDbXref ICD10:Q06.8 semapv:UnspecifiedMatching Orphanet:831 Congenital cervical spinal stenosis oboInOwl:hasDbXref UMLS:C4749275 semapv:UnspecifiedMatching @@ -49932,8 +50242,6 @@ Orphanet:83330 Proximal spinal muscular atrophy type 1 oboInOwl:hasDbXref icd11: Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref ICD10:E77.8 semapv:UnspecifiedMatching Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref MESH:C538523 semapv:UnspecifiedMatching -Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref MedDRA:10067529 semapv:UnspecifiedMatching -Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref MedDRA:10067531 semapv:UnspecifiedMatching Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref OMIM:269920 semapv:UnspecifiedMatching Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref OMIM:604369 semapv:UnspecifiedMatching Orphanet:834 Free sialic acid storage disease oboInOwl:hasDbXref UMLS:C2931872 semapv:UnspecifiedMatching @@ -49954,8 +50262,6 @@ Orphanet:83420 Proximal spinal muscular atrophy type 4 oboInOwl:hasDbXref MESH:C Orphanet:83420 Proximal spinal muscular atrophy type 4 oboInOwl:hasDbXref OMIM:271150 semapv:UnspecifiedMatching Orphanet:83420 Proximal spinal muscular atrophy type 4 oboInOwl:hasDbXref UMLS:C1838230 semapv:UnspecifiedMatching Orphanet:83420 Proximal spinal muscular atrophy type 4 oboInOwl:hasDbXref icd11:8B61.3 semapv:UnspecifiedMatching -Orphanet:83449 NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome oboInOwl:hasDbXref ICD10:E22.2 semapv:UnspecifiedMatching -Orphanet:83449 NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome oboInOwl:hasDbXref ICD10:E22.2 semapv:UnspecifiedMatching Orphanet:83450 Regional odontodysplasia oboInOwl:hasDbXref ICD10:K00.4 semapv:UnspecifiedMatching Orphanet:83450 Regional odontodysplasia oboInOwl:hasDbXref ICD10:K00.4 semapv:UnspecifiedMatching Orphanet:83450 Regional odontodysplasia oboInOwl:hasDbXref UMLS:C0206554 semapv:UnspecifiedMatching @@ -50101,8 +50407,6 @@ Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatiti Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome oboInOwl:hasDbXref OMIM:610483 semapv:UnspecifiedMatching Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome oboInOwl:hasDbXref UMLS:C4302680 semapv:UnspecifiedMatching Orphanet:83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome oboInOwl:hasDbXref icd11:4A01.00 semapv:UnspecifiedMatching -Orphanet:83618 Severe dilated cardiomyopathy due to lamin A/C mutation oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching -Orphanet:83618 Severe dilated cardiomyopathy due to lamin A/C mutation oboInOwl:hasDbXref ICD10:I42.0 semapv:UnspecifiedMatching Orphanet:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome oboInOwl:hasDbXref UMLS:C4509840 semapv:UnspecifiedMatching @@ -50114,6 +50418,7 @@ Orphanet:83620 Enteric anendocrinosis oboInOwl:hasDbXref UMLS:C1835888 semapv:Un Orphanet:83620 Enteric anendocrinosis oboInOwl:hasDbXref icd11:DA90.Y semapv:UnspecifiedMatching Orphanet:83628 LUMBAR syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:83628 LUMBAR syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching +Orphanet:83628 LUMBAR syndrome oboInOwl:hasDbXref MedDRA:10082949 semapv:UnspecifiedMatching Orphanet:83628 LUMBAR syndrome oboInOwl:hasDbXref UMLS:C4510867 semapv:UnspecifiedMatching Orphanet:83628 LUMBAR syndrome oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome oboInOwl:hasDbXref ICD10:G37.8 semapv:UnspecifiedMatching @@ -50234,9 +50539,9 @@ Orphanet:842 Testicular seminomatous germ cell tumor oboInOwl:hasDbXref OMIM:273 Orphanet:842 Testicular seminomatous germ cell tumor oboInOwl:hasDbXref UMLS:C5551428 semapv:UnspecifiedMatching Orphanet:842 Testicular seminomatous germ cell tumor oboInOwl:hasDbXref icd11:2C80.2 semapv:UnspecifiedMatching Orphanet:84271 Sporadic idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching +Orphanet:84271 Sporadic idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching +Orphanet:84271 Sporadic idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.3 semapv:UnspecifiedMatching Orphanet:84271 Sporadic idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.3 semapv:UnspecifiedMatching -Orphanet:84271 Sporadic idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching -Orphanet:84271 Sporadic idiopathic steroid-resistant nephrotic syndrome oboInOwl:hasDbXref ICD10:N04.8 semapv:UnspecifiedMatching Orphanet:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref ICD10:I45.6 semapv:UnspecifiedMatching Orphanet:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref ICD10:I45.6 semapv:UnspecifiedMatching Orphanet:844 Lown-Ganong-Levine syndrome oboInOwl:hasDbXref MESH:D008151 semapv:UnspecifiedMatching @@ -50258,14 +50563,14 @@ Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref MedDRA:10043390 semapv:Unspeci Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref OMIM:604131 semapv:UnspecifiedMatching Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref UMLS:C0002312 semapv:UnspecifiedMatching Orphanet:846 Alpha-thalassemia oboInOwl:hasDbXref icd11:3A50.0 semapv:UnspecifiedMatching -Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref MESH:C538258 semapv:UnspecifiedMatching -Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref MedDRA:10082291 semapv:UnspecifiedMatching -Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref OMIM:301040 semapv:UnspecifiedMatching -Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref OMIM:309580 semapv:UnspecifiedMatching -Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1845055 semapv:UnspecifiedMatching -Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome oboInOwl:hasDbXref icd11:3A50.1 semapv:UnspecifiedMatching +Orphanet:847 X-linked alpha-thalassemia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:847 X-linked alpha-thalassemia-intellectual disability syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching +Orphanet:847 X-linked alpha-thalassemia-intellectual disability syndrome oboInOwl:hasDbXref MESH:C538258 semapv:UnspecifiedMatching +Orphanet:847 X-linked alpha-thalassemia-intellectual disability syndrome oboInOwl:hasDbXref MedDRA:10082291 semapv:UnspecifiedMatching +Orphanet:847 X-linked alpha-thalassemia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:301040 semapv:UnspecifiedMatching +Orphanet:847 X-linked alpha-thalassemia-intellectual disability syndrome oboInOwl:hasDbXref OMIM:309580 semapv:UnspecifiedMatching +Orphanet:847 X-linked alpha-thalassemia-intellectual disability syndrome oboInOwl:hasDbXref UMLS:C1845055 semapv:UnspecifiedMatching +Orphanet:847 X-linked alpha-thalassemia-intellectual disability syndrome oboInOwl:hasDbXref icd11:3A50.1 semapv:UnspecifiedMatching Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref ICD10:D56.1 semapv:UnspecifiedMatching Orphanet:848 Beta-thalassemia oboInOwl:hasDbXref MESH:D017086 semapv:UnspecifiedMatching @@ -50292,10 +50597,6 @@ Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:615631 s Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref OMIM:619789 semapv:UnspecifiedMatching Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref UMLS:C0002876 semapv:UnspecifiedMatching Orphanet:85 Congenital dyserythropoietic anemia oboInOwl:hasDbXref icd11:3A73 semapv:UnspecifiedMatching -Orphanet:850 May-Hegglin thrombocytopenia oboInOwl:hasDbXref ICD10:D72.0 semapv:UnspecifiedMatching -Orphanet:850 May-Hegglin thrombocytopenia oboInOwl:hasDbXref ICD10:D72.0 semapv:UnspecifiedMatching -Orphanet:850 May-Hegglin thrombocytopenia oboInOwl:hasDbXref OMIM:155100 semapv:UnspecifiedMatching -Orphanet:850 May-Hegglin thrombocytopenia oboInOwl:hasDbXref icd11:3B64.01 semapv:UnspecifiedMatching Orphanet:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching Orphanet:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref ICD10:D69.4 semapv:UnspecifiedMatching Orphanet:851 Paris-Trousseau thrombocytopenia oboInOwl:hasDbXref OMIM:188025 semapv:UnspecifiedMatching @@ -50409,7 +50710,6 @@ Orphanet:85175 Astley-Kendall dysplasia oboInOwl:hasDbXref UMLS:C1300228 semapv: Orphanet:85175 Astley-Kendall dysplasia oboInOwl:hasDbXref icd11:LD24.04 semapv:UnspecifiedMatching Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia oboInOwl:hasDbXref ICD10:Q78.2 semapv:UnspecifiedMatching -Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia oboInOwl:hasDbXref OMIM:259720 semapv:UnspecifiedMatching Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia oboInOwl:hasDbXref OMIM:600329 semapv:UnspecifiedMatching Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia oboInOwl:hasDbXref UMLS:C4510764 semapv:UnspecifiedMatching Orphanet:85179 Infantile osteopetrosis with neuroaxonal dysplasia oboInOwl:hasDbXref icd11:LD24.10 semapv:UnspecifiedMatching @@ -50468,8 +50768,6 @@ Orphanet:85195 Familial expansile osteolysis oboInOwl:hasDbXref MESH:C536335 sem Orphanet:85195 Familial expansile osteolysis oboInOwl:hasDbXref OMIM:174810 semapv:UnspecifiedMatching Orphanet:85195 Familial expansile osteolysis oboInOwl:hasDbXref UMLS:C0432292 semapv:UnspecifiedMatching Orphanet:85195 Familial expansile osteolysis oboInOwl:hasDbXref icd11:FB86.2 semapv:UnspecifiedMatching -Orphanet:85196 Nodulosis-arthropathy-osteolysis syndrome oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching -Orphanet:85196 Nodulosis-arthropathy-osteolysis syndrome oboInOwl:hasDbXref ICD10:M89.5 semapv:UnspecifiedMatching Orphanet:85197 Genochondromatosis type 1 oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching Orphanet:85197 Genochondromatosis type 1 oboInOwl:hasDbXref ICD10:Q78.4 semapv:UnspecifiedMatching Orphanet:85197 Genochondromatosis type 1 oboInOwl:hasDbXref OMIM:137360 semapv:UnspecifiedMatching @@ -50490,10 +50788,7 @@ Orphanet:852 X-linked thrombocytopenia with normal platelets oboInOwl:hasDbXref Orphanet:852 X-linked thrombocytopenia with normal platelets oboInOwl:hasDbXref OMIM:313900 semapv:UnspecifiedMatching Orphanet:852 X-linked thrombocytopenia with normal platelets oboInOwl:hasDbXref UMLS:C5548213 semapv:UnspecifiedMatching Orphanet:852 X-linked thrombocytopenia with normal platelets oboInOwl:hasDbXref icd11:3B62.0Y semapv:UnspecifiedMatching -Orphanet:85200 Ischiovertebral syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -Orphanet:85200 Ischiovertebral syndrome oboInOwl:hasDbXref ICD10:Q77.8 semapv:UnspecifiedMatching -Orphanet:85200 Ischiovertebral syndrome oboInOwl:hasDbXref UMLS:C4274732 semapv:UnspecifiedMatching -Orphanet:85200 Ischiovertebral syndrome oboInOwl:hasDbXref icd11:LD24.H semapv:UnspecifiedMatching +Orphanet:85200 Ischio-vertebral syndrome oboInOwl:hasDbXref UMLS:C4274732 semapv:UnspecifiedMatching Orphanet:85201 Genitopatellar syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:85201 Genitopatellar syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:85201 Genitopatellar syndrome oboInOwl:hasDbXref MESH:C565255 semapv:UnspecifiedMatching @@ -50601,18 +50896,12 @@ Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type oboInOwl Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type oboInOwl:hasDbXref OMIM:300434 semapv:UnspecifiedMatching Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type oboInOwl:hasDbXref UMLS:C4305076 semapv:UnspecifiedMatching Orphanet:85288 X-linked intellectual disability, Stocco Dos Santos type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching -Orphanet:85289 X-linked intellectual disability, Vitale type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:85289 X-linked intellectual disability, Vitale type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:85289 X-linked intellectual disability, Vitale type oboInOwl:hasDbXref OMIM:300354 semapv:UnspecifiedMatching Orphanet:85290 X-linked intellectual disability, Wilson type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:85290 X-linked intellectual disability, Wilson type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:85290 X-linked intellectual disability, Wilson type oboInOwl:hasDbXref OMIM:309545 semapv:UnspecifiedMatching Orphanet:85290 X-linked intellectual disability, Wilson type oboInOwl:hasDbXref UMLS:C4305028 semapv:UnspecifiedMatching Orphanet:85290 X-linked intellectual disability, Wilson type oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching -Orphanet:85291 X-linked intellectual disability, Wittwer type oboInOwl:hasDbXref ICD10:Q93.3 semapv:UnspecifiedMatching -Orphanet:85291 X-linked intellectual disability, Wittwer type oboInOwl:hasDbXref ICD10:Q93.3 semapv:UnspecifiedMatching Orphanet:85291 X-linked intellectual disability, Wittwer type oboInOwl:hasDbXref MESH:C536760 semapv:UnspecifiedMatching -Orphanet:85291 X-linked intellectual disability, Wittwer type oboInOwl:hasDbXref OMIM:194190 semapv:UnspecifiedMatching Orphanet:85292 X-linked spinocerebellar ataxia type 4 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:85292 X-linked spinocerebellar ataxia type 4 oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:85292 X-linked spinocerebellar ataxia type 4 oboInOwl:hasDbXref MESH:C537316 semapv:UnspecifiedMatching @@ -50687,8 +50976,6 @@ Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrom Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome oboInOwl:hasDbXref UMLS:C4304407 semapv:UnspecifiedMatching Orphanet:85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching -Orphanet:85328 X-linked intellectual disability, Turner type oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching -Orphanet:85328 X-linked intellectual disability, Turner type oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching Orphanet:85328 X-linked intellectual disability, Turner type oboInOwl:hasDbXref OMIM:309590 semapv:UnspecifiedMatching Orphanet:85328 X-linked intellectual disability, Turner type oboInOwl:hasDbXref UMLS:C2678046 semapv:UnspecifiedMatching Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching @@ -50696,16 +50983,12 @@ Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-agg Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome oboInOwl:hasDbXref OMIM:304340 semapv:UnspecifiedMatching Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome oboInOwl:hasDbXref UMLS:C4304918 semapv:UnspecifiedMatching Orphanet:85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching -Orphanet:85330 X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -Orphanet:85330 X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome oboInOwl:hasDbXref ICD10:H35.5 semapv:UnspecifiedMatching Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome oboInOwl:hasDbXref MESH:C537046 semapv:UnspecifiedMatching Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome oboInOwl:hasDbXref OMIM:300578 semapv:UnspecifiedMatching Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome oboInOwl:hasDbXref UMLS:C0795873 semapv:UnspecifiedMatching Orphanet:85332 X-linked intellectual disability-retinitis pigmentosa syndrome oboInOwl:hasDbXref icd11:LD90 semapv:UnspecifiedMatching -Orphanet:85333 X-linked intellectual disability-spastic paraplegia with iron deposits syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching -Orphanet:85333 X-linked intellectual disability-spastic paraplegia with iron deposits syndrome oboInOwl:hasDbXref ICD10:G11.4 semapv:UnspecifiedMatching Orphanet:85333 X-linked intellectual disability-spastic paraplegia with iron deposits syndrome oboInOwl:hasDbXref UMLS:C2931491 semapv:UnspecifiedMatching Orphanet:85334 X-linked neurodegenerative syndrome, Bertini type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:85334 X-linked neurodegenerative syndrome, Bertini type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching @@ -50718,9 +51001,7 @@ Orphanet:85335 Fried syndrome oboInOwl:hasDbXref UMLS:C4305134 semapv:Unspecifie Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type oboInOwl:hasDbXref UMLS:C4305135 semapv:UnspecifiedMatching -Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching -Orphanet:85337 X-linked intellectual disability, Zorick type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -Orphanet:85337 X-linked intellectual disability, Zorick type oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching +Orphanet:85336 X-linked neurodegenerative syndrome, Hamel type oboInOwl:hasDbXref icd11:8A2Y semapv:UnspecifiedMatching Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching Orphanet:85338 X-linked intellectual disability-ataxia-apraxia syndrome oboInOwl:hasDbXref UMLS:C4305139 semapv:UnspecifiedMatching @@ -50811,14 +51092,14 @@ Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref MESH:C Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref OMIM:301220 semapv:UnspecifiedMatching Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref UMLS:C1845050 semapv:UnspecifiedMatching Orphanet:85453 X-linked reticulate pigmentary disorder oboInOwl:hasDbXref icd11:5D00.Y semapv:UnspecifiedMatching -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref OMIM:105150 semapv:UnspecifiedMatching -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref UMLS:C1510489 semapv:UnspecifiedMatching -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis oboInOwl:hasDbXref icd11:8B22.3 semapv:UnspecifiedMatching +Orphanet:85458 Cerebral Amyloid Angiopathy oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:85458 Cerebral Amyloid Angiopathy oboInOwl:hasDbXref ICD10:E85.4+ semapv:UnspecifiedMatching +Orphanet:85458 Cerebral Amyloid Angiopathy oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:85458 Cerebral Amyloid Angiopathy oboInOwl:hasDbXref ICD10:I68.0* semapv:UnspecifiedMatching +Orphanet:85458 Cerebral Amyloid Angiopathy oboInOwl:hasDbXref OMIM:105150 semapv:UnspecifiedMatching +Orphanet:85458 Cerebral Amyloid Angiopathy oboInOwl:hasDbXref OMIM:605714 semapv:UnspecifiedMatching +Orphanet:85458 Cerebral Amyloid Angiopathy oboInOwl:hasDbXref UMLS:C1510489 semapv:UnspecifiedMatching +Orphanet:85458 Cerebral Amyloid Angiopathy oboInOwl:hasDbXref icd11:8B22.3 semapv:UnspecifiedMatching Orphanet:855 NON RARE IN EUROPE: Hashimoto thyroiditis oboInOwl:hasDbXref ICD10:E06.3 semapv:UnspecifiedMatching Orphanet:855 NON RARE IN EUROPE: Hashimoto thyroiditis oboInOwl:hasDbXref ICD10:E06.3 semapv:UnspecifiedMatching Orphanet:856 NON RARE IN EUROPE: Tourette syndrome oboInOwl:hasDbXref ICD10:F95.2 semapv:UnspecifiedMatching @@ -50898,12 +51179,12 @@ Orphanet:86788 X-linked severe congenital neutropenia oboInOwl:hasDbXref MESH:C5 Orphanet:86788 X-linked severe congenital neutropenia oboInOwl:hasDbXref OMIM:300299 semapv:UnspecifiedMatching Orphanet:86788 X-linked severe congenital neutropenia oboInOwl:hasDbXref UMLS:C1845987 semapv:UnspecifiedMatching Orphanet:86788 X-linked severe congenital neutropenia oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching -Orphanet:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref ICD10:Q74.1 semapv:UnspecifiedMatching -Orphanet:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref ICD10:Q74.1 semapv:UnspecifiedMatching -Orphanet:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref MESH:C535568 semapv:UnspecifiedMatching -Orphanet:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref OMIM:168860 semapv:UnspecifiedMatching -Orphanet:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref UMLS:C1868577 semapv:UnspecifiedMatching -Orphanet:86789 Patella aplasia/hypoplasia oboInOwl:hasDbXref icd11:LB95 semapv:UnspecifiedMatching +Orphanet:86789 Isolated patella aplasia/hypoplasia oboInOwl:hasDbXref ICD10:Q74.1 semapv:UnspecifiedMatching +Orphanet:86789 Isolated patella aplasia/hypoplasia oboInOwl:hasDbXref ICD10:Q74.1 semapv:UnspecifiedMatching +Orphanet:86789 Isolated patella aplasia/hypoplasia oboInOwl:hasDbXref MESH:C535568 semapv:UnspecifiedMatching +Orphanet:86789 Isolated patella aplasia/hypoplasia oboInOwl:hasDbXref OMIM:168860 semapv:UnspecifiedMatching +Orphanet:86789 Isolated patella aplasia/hypoplasia oboInOwl:hasDbXref UMLS:C1868577 semapv:UnspecifiedMatching +Orphanet:86789 Isolated patella aplasia/hypoplasia oboInOwl:hasDbXref icd11:LB95 semapv:UnspecifiedMatching Orphanet:86795 Localized lichen myxedematosus oboInOwl:hasDbXref icd11:EB90.11 semapv:UnspecifiedMatching Orphanet:86797 Atypical lichen myxedematosus oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching Orphanet:86797 Atypical lichen myxedematosus oboInOwl:hasDbXref ICD10:L98.5 semapv:UnspecifiedMatching @@ -50991,7 +51272,7 @@ Orphanet:86830 Chronic myeloproliferative disease, unclassifiable oboInOwl:hasDb Orphanet:86830 Chronic myeloproliferative disease, unclassifiable oboInOwl:hasDbXref ICD10:D47.1 semapv:UnspecifiedMatching Orphanet:86830 Chronic myeloproliferative disease, unclassifiable oboInOwl:hasDbXref OMIM:131440 semapv:UnspecifiedMatching Orphanet:86830 Chronic myeloproliferative disease, unclassifiable oboInOwl:hasDbXref UMLS:C4757947 semapv:UnspecifiedMatching -Orphanet:86830 Chronic myeloproliferative disease, unclassifiable oboInOwl:hasDbXref icd11:2A44 semapv:UnspecifiedMatching +Orphanet:86830 Chronic myeloproliferative disease, unclassifiable oboInOwl:hasDbXref icd11:2A22 semapv:UnspecifiedMatching Orphanet:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref ICD10:C93.3 semapv:UnspecifiedMatching Orphanet:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref ICD10:C93.3 semapv:UnspecifiedMatching Orphanet:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref MESH:D054429 semapv:UnspecifiedMatching @@ -51002,12 +51283,12 @@ Orphanet:86834 Juvenile myelomonocytic leukemia oboInOwl:hasDbXref icd11:2A42 se Orphanet:86836 Refractory cytopenia with multilineage dysplasia oboInOwl:hasDbXref MedDRA:10067959 semapv:UnspecifiedMatching Orphanet:86836 Refractory cytopenia with multilineage dysplasia oboInOwl:hasDbXref UMLS:C0796466 semapv:UnspecifiedMatching Orphanet:86836 Refractory cytopenia with multilineage dysplasia oboInOwl:hasDbXref icd11:2A34 semapv:UnspecifiedMatching -Orphanet:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching -Orphanet:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching -Orphanet:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref MESH:D000754 semapv:UnspecifiedMatching -Orphanet:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref MedDRA:10038270 semapv:UnspecifiedMatching -Orphanet:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref UMLS:C0002894 semapv:UnspecifiedMatching -Orphanet:86839 Refractory anemia with excess blasts oboInOwl:hasDbXref icd11:2A35 semapv:UnspecifiedMatching +Orphanet:86839 Myelodysplastic neoplasm with increased blasts oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching +Orphanet:86839 Myelodysplastic neoplasm with increased blasts oboInOwl:hasDbXref ICD10:D46.2 semapv:UnspecifiedMatching +Orphanet:86839 Myelodysplastic neoplasm with increased blasts oboInOwl:hasDbXref MESH:D000754 semapv:UnspecifiedMatching +Orphanet:86839 Myelodysplastic neoplasm with increased blasts oboInOwl:hasDbXref MedDRA:10038270 semapv:UnspecifiedMatching +Orphanet:86839 Myelodysplastic neoplasm with increased blasts oboInOwl:hasDbXref UMLS:C0002894 semapv:UnspecifiedMatching +Orphanet:86839 Myelodysplastic neoplasm with increased blasts oboInOwl:hasDbXref icd11:2A35 semapv:UnspecifiedMatching Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality oboInOwl:hasDbXref MedDRA:10067096 semapv:UnspecifiedMatching @@ -51073,9 +51354,7 @@ Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref ICD10:C88.3 semapv:Unspeci Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref MESH:D006362 semapv:UnspecifiedMatching Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref MedDRA:10019350 semapv:UnspecifiedMatching Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref UMLS:C0018852 semapv:UnspecifiedMatching -Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref icd11:2A84.0 semapv:UnspecifiedMatching -Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref icd11:2A84.1 semapv:UnspecifiedMatching -Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref icd11:2A84.2 semapv:UnspecifiedMatching +Orphanet:86864 Heavy chain disease oboInOwl:hasDbXref icd11:2A84 semapv:UnspecifiedMatching Orphanet:86867 Nodal marginal zone B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching Orphanet:86867 Nodal marginal zone B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.0 semapv:UnspecifiedMatching Orphanet:86867 Nodal marginal zone B-cell lymphoma oboInOwl:hasDbXref MedDRA:10029460 semapv:UnspecifiedMatching @@ -51130,6 +51409,8 @@ Orphanet:86882 Hepatosplenic T-cell lymphoma oboInOwl:hasDbXref ICD10:C86.1 sema Orphanet:86882 Hepatosplenic T-cell lymphoma oboInOwl:hasDbXref MedDRA:10066957 semapv:UnspecifiedMatching Orphanet:86882 Hepatosplenic T-cell lymphoma oboInOwl:hasDbXref UMLS:C1333984 semapv:UnspecifiedMatching Orphanet:86882 Hepatosplenic T-cell lymphoma oboInOwl:hasDbXref icd11:2A90.8 semapv:UnspecifiedMatching +Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref ICD10:C86.3 semapv:UnspecifiedMatching +Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref ICD10:C86.3 semapv:UnspecifiedMatching Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref MESH:C537503 semapv:UnspecifiedMatching Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref OMIM:618398 semapv:UnspecifiedMatching Orphanet:86884 Subcutaneous panniculitis-like T-cell lymphoma oboInOwl:hasDbXref UMLS:C0522624 semapv:UnspecifiedMatching @@ -51318,8 +51599,8 @@ Orphanet:879 Tungiasis oboInOwl:hasDbXref ICD10:B88.1 semapv:UnspecifiedMatching Orphanet:879 Tungiasis oboInOwl:hasDbXref MESH:D058285 semapv:UnspecifiedMatching Orphanet:879 Tungiasis oboInOwl:hasDbXref UMLS:C0277356 semapv:UnspecifiedMatching Orphanet:879 Tungiasis oboInOwl:hasDbXref icd11:1G05 semapv:UnspecifiedMatching -Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching -Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref ICD10:D61.0 semapv:UnspecifiedMatching +Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref ICD10:D61.3 semapv:UnspecifiedMatching +Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref ICD10:D61.3 semapv:UnspecifiedMatching Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref MESH:C538494 semapv:UnspecifiedMatching Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref MedDRA:10054580 semapv:UnspecifiedMatching Orphanet:88 Idiopathic aplastic anemia oboInOwl:hasDbXref OMIM:609135 semapv:UnspecifiedMatching @@ -51425,7 +51706,6 @@ Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOw Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:615979 semapv:UnspecifiedMatching Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616116 semapv:UnspecifiedMatching Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616193 semapv:UnspecifiedMatching -Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616459 semapv:UnspecifiedMatching Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616460 semapv:UnspecifiedMatching Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616739 semapv:UnspecifiedMatching Orphanet:88616 Autosomal recessive non-syndromic intellectual disability oboInOwl:hasDbXref OMIM:616887 semapv:UnspecifiedMatching @@ -51491,8 +51771,6 @@ Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates oboInOwl:hasDbXref OMIM:616231 semapv:UnspecifiedMatching Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates oboInOwl:hasDbXref UMLS:C4510368 semapv:UnspecifiedMatching Orphanet:88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates oboInOwl:hasDbXref icd11:8C7Y semapv:UnspecifiedMatching -Orphanet:88636 Aortic dilatation-joint hypermobility-arterial tortuosity syndrome oboInOwl:hasDbXref ICD10:I71.2 semapv:UnspecifiedMatching -Orphanet:88636 Aortic dilatation-joint hypermobility-arterial tortuosity syndrome oboInOwl:hasDbXref ICD10:I71.2 semapv:UnspecifiedMatching Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome oboInOwl:hasDbXref ICD10:G11.1 semapv:UnspecifiedMatching Orphanet:88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome oboInOwl:hasDbXref MESH:C567313 semapv:UnspecifiedMatching @@ -51588,6 +51866,7 @@ Orphanet:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref ICD10:Q87. Orphanet:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref MESH:C536587 semapv:UnspecifiedMatching Orphanet:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref OMIM:203780 semapv:UnspecifiedMatching +Orphanet:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref OMIM:620536 semapv:UnspecifiedMatching Orphanet:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref UMLS:C1567744 semapv:UnspecifiedMatching Orphanet:88919 Autosomal recessive Alport syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching Orphanet:88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis oboInOwl:hasDbXref ICD10:Q61.2 semapv:UnspecifiedMatching @@ -51617,11 +51896,13 @@ Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref MESH:C536137 semapv:UnspecifiedMatching Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:174000 semapv:UnspecifiedMatching +Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref UMLS:C1868139 semapv:UnspecifiedMatching Orphanet:88949 MUC1-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref icd11:GB82 semapv:UnspecifiedMatching Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref ICD10:Q61.5 semapv:UnspecifiedMatching Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref MESH:C548033 semapv:UnspecifiedMatching Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref OMIM:162000 semapv:UnspecifiedMatching +Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref UMLS:C1859040 semapv:UnspecifiedMatching Orphanet:88950 UMOD-related autosomal dominant tubulointerstitial kidney disease oboInOwl:hasDbXref icd11:GB82 semapv:UnspecifiedMatching Orphanet:88991 Rare congenital non-syndromic heart malformation oboInOwl:hasDbXref UMLS:C5681450 semapv:UnspecifiedMatching Orphanet:88993 Esophageal malformation oboInOwl:hasDbXref UMLS:C5681451 semapv:UnspecifiedMatching @@ -51670,7 +51951,6 @@ Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref MESH:C536463 semapv: Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:193510 semapv:UnspecifiedMatching Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:600193 semapv:UnspecifiedMatching Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:606662 semapv:UnspecifiedMatching -Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:608890 semapv:UnspecifiedMatching Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:611584 semapv:UnspecifiedMatching Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref OMIM:619947 semapv:UnspecifiedMatching Orphanet:895 Waardenburg syndrome type 2 oboInOwl:hasDbXref UMLS:C2700265 semapv:UnspecifiedMatching @@ -51695,8 +51975,6 @@ Orphanet:898 Wagner disease oboInOwl:hasDbXref OMIM:143200 semapv:UnspecifiedMat Orphanet:898 Wagner disease oboInOwl:hasDbXref UMLS:C1840452 semapv:UnspecifiedMatching Orphanet:898 Wagner disease oboInOwl:hasDbXref icd11:9B80 semapv:UnspecifiedMatching Orphanet:89826 Rare skin disease oboInOwl:hasDbXref UMLS:C5681445 semapv:UnspecifiedMatching -Orphanet:89833 Palmoplantar keratoderma with tonotubular keratin oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -Orphanet:89833 Palmoplantar keratoderma with tonotubular keratin oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex oboInOwl:hasDbXref ICD10:Q81.0 semapv:UnspecifiedMatching Orphanet:89838 Autosomal recessive generalized epidermolysis bullosa simplex oboInOwl:hasDbXref OMIM:601001 semapv:UnspecifiedMatching @@ -51754,8 +52032,6 @@ Orphanet:89938 Bartter syndrome type 4 oboInOwl:hasDbXref OMIM:602522 semapv:Uns Orphanet:89938 Bartter syndrome type 4 oboInOwl:hasDbXref OMIM:613090 semapv:UnspecifiedMatching Orphanet:89938 Bartter syndrome type 4 oboInOwl:hasDbXref UMLS:C3838860 semapv:UnspecifiedMatching Orphanet:89938 Bartter syndrome type 4 oboInOwl:hasDbXref icd11:GB90.43 semapv:UnspecifiedMatching -Orphanet:89939 NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -Orphanet:89939 NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching Orphanet:9 Tetrasomy X oboInOwl:hasDbXref ICD10:Q97.1 semapv:UnspecifiedMatching Orphanet:9 Tetrasomy X oboInOwl:hasDbXref ICD10:Q97.1 semapv:UnspecifiedMatching Orphanet:9 Tetrasomy X oboInOwl:hasDbXref MESH:C536502 semapv:UnspecifiedMatching @@ -51805,11 +52081,11 @@ Orphanet:90020 Parkinson-dementia complex of Guam oboInOwl:hasDbXref icd11:6D85. Orphanet:90021 Radiation myelitis oboInOwl:hasDbXref ICD10:G97.8 semapv:UnspecifiedMatching Orphanet:90021 Radiation myelitis oboInOwl:hasDbXref ICD10:G97.8 semapv:UnspecifiedMatching Orphanet:90021 Radiation myelitis oboInOwl:hasDbXref UMLS:C4706614 semapv:UnspecifiedMatching -Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching -Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching -Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency oboInOwl:hasDbXref OMIM:610798 semapv:UnspecifiedMatching -Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency oboInOwl:hasDbXref UMLS:C4305256 semapv:UnspecifiedMatching -Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching +Orphanet:90023 Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching +Orphanet:90023 Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching +Orphanet:90023 Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency oboInOwl:hasDbXref OMIM:610798 semapv:UnspecifiedMatching +Orphanet:90023 Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency oboInOwl:hasDbXref UMLS:C4305256 semapv:UnspecifiedMatching +Orphanet:90023 Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency oboInOwl:hasDbXref icd11:4B00.00 semapv:UnspecifiedMatching Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia oboInOwl:hasDbXref ICD10:Q16.5 semapv:UnspecifiedMatching Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia oboInOwl:hasDbXref ICD10:Q16.5 semapv:UnspecifiedMatching Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia oboInOwl:hasDbXref MESH:C565195 semapv:UnspecifiedMatching @@ -51997,8 +52273,9 @@ Orphanet:90080 Scarring in glaucoma filtration surgical procedures oboInOwl:hasD Orphanet:90081 AIDS wasting syndrome oboInOwl:hasDbXref ICD10:B22.2 semapv:UnspecifiedMatching Orphanet:90081 AIDS wasting syndrome oboInOwl:hasDbXref ICD10:B22.2 semapv:UnspecifiedMatching Orphanet:90081 AIDS wasting syndrome oboInOwl:hasDbXref MESH:D019247 semapv:UnspecifiedMatching +Orphanet:90081 AIDS wasting syndrome oboInOwl:hasDbXref MedDRA:10050309 semapv:UnspecifiedMatching Orphanet:90081 AIDS wasting syndrome oboInOwl:hasDbXref UMLS:C0343755 semapv:UnspecifiedMatching -Orphanet:90081 AIDS wasting syndrome oboInOwl:hasDbXref icd11:1C62.3 semapv:UnspecifiedMatching +Orphanet:90081 AIDS wasting syndrome oboInOwl:hasDbXref icd11:1C62.3Y semapv:UnspecifiedMatching Orphanet:901 Wells syndrome oboInOwl:hasDbXref ICD10:L98.3 semapv:UnspecifiedMatching Orphanet:901 Wells syndrome oboInOwl:hasDbXref ICD10:L98.3 semapv:UnspecifiedMatching Orphanet:901 Wells syndrome oboInOwl:hasDbXref MESH:C536693 semapv:UnspecifiedMatching @@ -52063,8 +52340,6 @@ Orphanet:90160 Pressure-induced localized lipoatrophy oboInOwl:hasDbXref ICD10:E Orphanet:90160 Pressure-induced localized lipoatrophy oboInOwl:hasDbXref ICD10:E88.1 semapv:UnspecifiedMatching Orphanet:90160 Pressure-induced localized lipoatrophy oboInOwl:hasDbXref UMLS:C1260961 semapv:UnspecifiedMatching Orphanet:90160 Pressure-induced localized lipoatrophy oboInOwl:hasDbXref icd11:EF01.1 semapv:UnspecifiedMatching -Orphanet:90185 Non-hereditary late-onset primary lymphedema oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching -Orphanet:90185 Non-hereditary late-onset primary lymphedema oboInOwl:hasDbXref ICD10:Q82.8 semapv:UnspecifiedMatching Orphanet:90186 Meige disease oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching Orphanet:90186 Meige disease oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching Orphanet:90186 Meige disease oboInOwl:hasDbXref OMIM:153200 semapv:UnspecifiedMatching @@ -52113,7 +52388,6 @@ Orphanet:90290 CREST syndrome oboInOwl:hasDbXref ICD10:M34.1 semapv:UnspecifiedM Orphanet:90290 CREST syndrome oboInOwl:hasDbXref MESH:D017675 semapv:UnspecifiedMatching Orphanet:90290 CREST syndrome oboInOwl:hasDbXref MedDRA:10011380 semapv:UnspecifiedMatching Orphanet:90290 CREST syndrome oboInOwl:hasDbXref UMLS:C0206138 semapv:UnspecifiedMatching -Orphanet:90290 CREST syndrome oboInOwl:hasDbXref icd11:4A42.2 semapv:UnspecifiedMatching Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.0 semapv:UnspecifiedMatching Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.0 semapv:UnspecifiedMatching Orphanet:90291 Systemic sclerosis oboInOwl:hasDbXref ICD10:M34.1 semapv:UnspecifiedMatching @@ -52172,17 +52446,12 @@ Orphanet:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref OMIM:216400 semapv:Un Orphanet:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref OMIM:216411 semapv:UnspecifiedMatching Orphanet:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref UMLS:C0751037 semapv:UnspecifiedMatching Orphanet:90324 Cockayne syndrome type 3 oboInOwl:hasDbXref icd11:LD2B semapv:UnspecifiedMatching -Orphanet:90338 Margarita island ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -Orphanet:90338 Margarita island ectodermal dysplasia oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:90340 Blau syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:90340 Blau syndrome oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:90340 Blau syndrome oboInOwl:hasDbXref MedDRA:10071755 semapv:UnspecifiedMatching Orphanet:90340 Blau syndrome oboInOwl:hasDbXref OMIM:186580 semapv:UnspecifiedMatching Orphanet:90340 Blau syndrome oboInOwl:hasDbXref UMLS:C5201146 semapv:UnspecifiedMatching Orphanet:90340 Blau syndrome oboInOwl:hasDbXref icd11:4A60.Y semapv:UnspecifiedMatching -Orphanet:90341 Early-onset sarcoidosis oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -Orphanet:90341 Early-onset sarcoidosis oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching -Orphanet:90341 Early-onset sarcoidosis oboInOwl:hasDbXref OMIM:186580 semapv:UnspecifiedMatching Orphanet:90341 Early-onset sarcoidosis oboInOwl:hasDbXref UMLS:C1836122 semapv:UnspecifiedMatching Orphanet:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref ICD10:Q82.1 semapv:UnspecifiedMatching Orphanet:90342 Xeroderma pigmentosum variant oboInOwl:hasDbXref ICD10:Q82.1 semapv:UnspecifiedMatching @@ -52475,6 +52744,7 @@ Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl: Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref OMIM:500008 semapv:UnspecifiedMatching Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref OMIM:580000 semapv:UnspecifiedMatching Orphanet:90641 Rare mitochondrial non-syndromic sensorineural deafness oboInOwl:hasDbXref icd11:8C73.Y semapv:UnspecifiedMatching +Orphanet:90642 Syndromic genetic deafness oboInOwl:hasDbXref UMLS:C0395976 semapv:UnspecifiedMatching Orphanet:90642 Syndromic genetic deafness oboInOwl:hasDbXref icd11:LD2H semapv:UnspecifiedMatching Orphanet:90646 Deafness-hypogonadism syndrome oboInOwl:hasDbXref ICD10:H90.6 semapv:UnspecifiedMatching Orphanet:90646 Deafness-hypogonadism syndrome oboInOwl:hasDbXref ICD10:H90.6 semapv:UnspecifiedMatching @@ -52490,8 +52760,6 @@ Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref OMIM:220400 Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref OMIM:612347 semapv:UnspecifiedMatching Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref UMLS:C0022387 semapv:UnspecifiedMatching Orphanet:90647 Jervell and Lange-Nielsen syndrome oboInOwl:hasDbXref icd11:BC65.0 semapv:UnspecifiedMatching -Orphanet:90649 Orofaciodigital syndrome type 7 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching -Orphanet:90649 Orofaciodigital syndrome type 7 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching Orphanet:90649 Orofaciodigital syndrome type 7 oboInOwl:hasDbXref OMIM:608518 semapv:UnspecifiedMatching Orphanet:90649 Orofaciodigital syndrome type 7 oboInOwl:hasDbXref UMLS:C0796100 semapv:UnspecifiedMatching Orphanet:90650 Otopalatodigital syndrome type 1 oboInOwl:hasDbXref ICD10:Q87.0 semapv:UnspecifiedMatching @@ -52545,8 +52813,6 @@ Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref OMIM:262600 se Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref OMIM:312000 semapv:UnspecifiedMatching Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref UMLS:C5680191 semapv:UnspecifiedMatching Orphanet:90695 Non-acquired panhypopituitarism oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching -Orphanet:907 NON RARE IN EUROPE: Wolff-Parkinson-White syndrome oboInOwl:hasDbXref ICD10:I45.6 semapv:UnspecifiedMatching -Orphanet:907 NON RARE IN EUROPE: Wolff-Parkinson-White syndrome oboInOwl:hasDbXref ICD10:I45.6 semapv:UnspecifiedMatching Orphanet:90771 Difference of sex development oboInOwl:hasDbXref MESH:D012734 semapv:UnspecifiedMatching Orphanet:90771 Difference of sex development oboInOwl:hasDbXref MedDRA:10070597 semapv:UnspecifiedMatching Orphanet:90771 Difference of sex development oboInOwl:hasDbXref UMLS:C0036875 semapv:UnspecifiedMatching @@ -52619,7 +52885,6 @@ Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref ICD10:Q82.1 semapv:Unspeci Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref ICD10:Q82.1 semapv:UnspecifiedMatching Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref MESH:D014983 semapv:UnspecifiedMatching Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref MedDRA:10048220 semapv:UnspecifiedMatching -Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:194400 semapv:UnspecifiedMatching Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278700 semapv:UnspecifiedMatching Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278720 semapv:UnspecifiedMatching Orphanet:910 Xeroderma pigmentosum oboInOwl:hasDbXref OMIM:278730 semapv:UnspecifiedMatching @@ -52640,8 +52905,6 @@ Orphanet:911 Combined immunodeficiency due to ZAP70 deficiency oboInOwl:hasDbXre Orphanet:91127 Adenovirus infection in immunocompromised patients oboInOwl:hasDbXref ICD10:B34.0 semapv:UnspecifiedMatching Orphanet:91127 Adenovirus infection in immunocompromised patients oboInOwl:hasDbXref ICD10:B34.0 semapv:UnspecifiedMatching Orphanet:91127 Adenovirus infection in immunocompromised patients oboInOwl:hasDbXref UMLS:C5681468 semapv:UnspecifiedMatching -Orphanet:91129 Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching -Orphanet:91129 Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome oboInOwl:hasDbXref ICD10:G71.3 semapv:UnspecifiedMatching Orphanet:91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome oboInOwl:hasDbXref OMIM:610773 semapv:UnspecifiedMatching @@ -52727,6 +52990,7 @@ Orphanet:91351 Pituitary dermoid and epidermoid cysts oboInOwl:hasDbXref UMLS:C5 Orphanet:91351 Pituitary dermoid and epidermoid cysts oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching Orphanet:91352 Germinoma of the central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching Orphanet:91352 Germinoma of the central nervous system oboInOwl:hasDbXref ICD10:C72.9 semapv:UnspecifiedMatching +Orphanet:91352 Germinoma of the central nervous system oboInOwl:hasDbXref MedDRA:10065852 semapv:UnspecifiedMatching Orphanet:91352 Germinoma of the central nervous system oboInOwl:hasDbXref UMLS:C1333813 semapv:UnspecifiedMatching Orphanet:91352 Germinoma of the central nervous system oboInOwl:hasDbXref icd11:2A00.1Y semapv:UnspecifiedMatching Orphanet:91354 Pituitary deficiency due to empty sella turcica syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:UnspecifiedMatching @@ -52738,6 +53002,7 @@ Orphanet:91355 Sheehan syndrome oboInOwl:hasDbXref ICD10:E23.0 semapv:Unspecifie Orphanet:91355 Sheehan syndrome oboInOwl:hasDbXref MedDRA:10036297 semapv:UnspecifiedMatching Orphanet:91355 Sheehan syndrome oboInOwl:hasDbXref UMLS:C0242342 semapv:UnspecifiedMatching Orphanet:91355 Sheehan syndrome oboInOwl:hasDbXref icd11:5A61.0 semapv:UnspecifiedMatching +Orphanet:91357 Duplication of the esophagus oboInOwl:hasDbXref UMLS:C0266135 semapv:UnspecifiedMatching Orphanet:91358 Congenital esophageal diverticulum oboInOwl:hasDbXref ICD10:Q39.6 semapv:UnspecifiedMatching Orphanet:91358 Congenital esophageal diverticulum oboInOwl:hasDbXref ICD10:Q39.6 semapv:UnspecifiedMatching Orphanet:91358 Congenital esophageal diverticulum oboInOwl:hasDbXref UMLS:C0266133 semapv:UnspecifiedMatching @@ -52811,6 +53076,7 @@ Orphanet:91412 Marcus-Gunn syndrome oboInOwl:hasDbXref icd11:9A03.00 semapv:Unsp Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref ICD10:G90.2 semapv:UnspecifiedMatching Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref ICD10:G90.2 semapv:UnspecifiedMatching Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref MESH:C564178 semapv:UnspecifiedMatching +Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref MedDRA:10074554 semapv:UnspecifiedMatching Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref OMIM:143000 semapv:UnspecifiedMatching Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref UMLS:C1840475 semapv:UnspecifiedMatching Orphanet:91413 Congenital Horner syndrome oboInOwl:hasDbXref icd11:8D8A.1 semapv:UnspecifiedMatching @@ -52857,53 +53123,53 @@ Orphanet:91491 Congenital ectropion uveae oboInOwl:hasDbXref ICD10:Q13.8 semapv: Orphanet:91491 Congenital ectropion uveae oboInOwl:hasDbXref ICD10:Q13.8 semapv:UnspecifiedMatching Orphanet:91491 Congenital ectropion uveae oboInOwl:hasDbXref UMLS:C1303012 semapv:UnspecifiedMatching Orphanet:91491 Congenital ectropion uveae oboInOwl:hasDbXref icd11:LA14.03 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115650 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115660 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115665 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115700 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115800 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115900 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116100 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116200 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116300 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116400 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116600 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116700 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116800 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:212500 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:302200 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:600881 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:601202 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:601547 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:601885 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:604219 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:604307 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:605387 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:605728 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:605749 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:607304 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:609376 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:609741 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:610019 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:610202 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:610425 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:610623 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:611391 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:611544 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:611597 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:613763 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:614422 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:614691 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:615188 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:615274 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:615277 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:616279 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:616509 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref OMIM:616851 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref UMLS:C0009691 semapv:UnspecifiedMatching -Orphanet:91492 Early-onset non-syndromic cataract oboInOwl:hasDbXref icd11:LA12.1 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref ICD10:Q12.0 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115650 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115660 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115665 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115700 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115800 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:115900 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116100 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116200 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116300 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116400 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116600 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116700 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:116800 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:212500 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:302200 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:600881 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:601202 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:601547 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:601885 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:604219 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:604307 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:605387 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:605728 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:605749 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:607304 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:609376 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:609741 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:610019 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:610202 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:610425 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:610623 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:611391 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:611544 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:611597 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:613763 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:614422 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:614691 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:615188 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:615274 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:615277 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:616279 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:616509 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref OMIM:616851 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref UMLS:C0009691 semapv:UnspecifiedMatching +Orphanet:91492 Early onset non-syndromic cataract oboInOwl:hasDbXref icd11:LA12.1 semapv:UnspecifiedMatching Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome oboInOwl:hasDbXref OMIM:216800 semapv:UnspecifiedMatching @@ -53026,12 +53292,12 @@ Orphanet:930 Idiopathic achalasia oboInOwl:hasDbXref MedDRA:10036669 semapv:Unsp Orphanet:930 Idiopathic achalasia oboInOwl:hasDbXref OMIM:200400 semapv:UnspecifiedMatching Orphanet:930 Idiopathic achalasia oboInOwl:hasDbXref UMLS:C0859976 semapv:UnspecifiedMatching Orphanet:930 Idiopathic achalasia oboInOwl:hasDbXref icd11:DA21.0 semapv:UnspecifiedMatching -Orphanet:931 Acheiropodia oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -Orphanet:931 Acheiropodia oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -Orphanet:931 Acheiropodia oboInOwl:hasDbXref MESH:C536014 semapv:UnspecifiedMatching -Orphanet:931 Acheiropodia oboInOwl:hasDbXref OMIM:200500 semapv:UnspecifiedMatching -Orphanet:931 Acheiropodia oboInOwl:hasDbXref UMLS:C0265559 semapv:UnspecifiedMatching -Orphanet:931 Acheiropodia oboInOwl:hasDbXref icd11:LB9B semapv:UnspecifiedMatching +Orphanet:931 Isolated acheiropodia oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:931 Isolated acheiropodia oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching +Orphanet:931 Isolated acheiropodia oboInOwl:hasDbXref MESH:C536014 semapv:UnspecifiedMatching +Orphanet:931 Isolated acheiropodia oboInOwl:hasDbXref OMIM:200500 semapv:UnspecifiedMatching +Orphanet:931 Isolated acheiropodia oboInOwl:hasDbXref UMLS:C0265559 semapv:UnspecifiedMatching +Orphanet:931 Isolated acheiropodia oboInOwl:hasDbXref icd11:LB9B semapv:UnspecifiedMatching Orphanet:93100 Renal agenesis, unilateral oboInOwl:hasDbXref ICD10:Q60.0 semapv:UnspecifiedMatching Orphanet:93100 Renal agenesis, unilateral oboInOwl:hasDbXref ICD10:Q60.0 semapv:UnspecifiedMatching Orphanet:93100 Renal agenesis, unilateral oboInOwl:hasDbXref MedDRA:10053624 semapv:UnspecifiedMatching @@ -53179,8 +53445,6 @@ Orphanet:93274 Thanatophoric dysplasia type 2 oboInOwl:hasDbXref OMIM:156830 sem Orphanet:93274 Thanatophoric dysplasia type 2 oboInOwl:hasDbXref OMIM:187601 semapv:UnspecifiedMatching Orphanet:93274 Thanatophoric dysplasia type 2 oboInOwl:hasDbXref UMLS:C1300257 semapv:UnspecifiedMatching Orphanet:93274 Thanatophoric dysplasia type 2 oboInOwl:hasDbXref icd11:LD24.02 semapv:UnspecifiedMatching -Orphanet:93275 Thanatophoric dysplasia, Glasgow variant oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -Orphanet:93275 Thanatophoric dysplasia, Glasgow variant oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:93275 Thanatophoric dysplasia, Glasgow variant oboInOwl:hasDbXref MESH:C536506 semapv:UnspecifiedMatching Orphanet:93275 Thanatophoric dysplasia, Glasgow variant oboInOwl:hasDbXref OMIM:273680 semapv:UnspecifiedMatching Orphanet:93275 Thanatophoric dysplasia, Glasgow variant oboInOwl:hasDbXref UMLS:C1848865 semapv:UnspecifiedMatching @@ -53200,8 +53464,6 @@ Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with ear Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis oboInOwl:hasDbXref OMIM:604864 semapv:UnspecifiedMatching Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis oboInOwl:hasDbXref UMLS:C4275063 semapv:UnspecifiedMatching Orphanet:93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching -Orphanet:93280 Spondyloepiphyseal dysplasia, Omani type oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching -Orphanet:93280 Spondyloepiphyseal dysplasia, Omani type oboInOwl:hasDbXref ICD10:Q74.8 semapv:UnspecifiedMatching Orphanet:93280 Spondyloepiphyseal dysplasia, Omani type oboInOwl:hasDbXref MESH:C535789 semapv:UnspecifiedMatching Orphanet:93280 Spondyloepiphyseal dysplasia, Omani type oboInOwl:hasDbXref UMLS:C1837657 semapv:UnspecifiedMatching Orphanet:93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching @@ -53256,8 +53518,6 @@ Orphanet:93299 Achondrogenesis type 1A oboInOwl:hasDbXref MESH:C536015 semapv:Un Orphanet:93299 Achondrogenesis type 1A oboInOwl:hasDbXref OMIM:200600 semapv:UnspecifiedMatching Orphanet:93299 Achondrogenesis type 1A oboInOwl:hasDbXref UMLS:C0265273 semapv:UnspecifiedMatching Orphanet:93299 Achondrogenesis type 1A oboInOwl:hasDbXref icd11:LD24.50 semapv:UnspecifiedMatching -Orphanet:93301 Brachyolmia type 1, Hobaek type oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching -Orphanet:93301 Brachyolmia type 1, Hobaek type oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching Orphanet:93301 Brachyolmia type 1, Hobaek type oboInOwl:hasDbXref OMIM:271530 semapv:UnspecifiedMatching Orphanet:93302 Brachyolmia, Maroteaux type oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching Orphanet:93302 Brachyolmia, Maroteaux type oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching @@ -53265,8 +53525,6 @@ Orphanet:93302 Brachyolmia, Maroteaux type oboInOwl:hasDbXref MESH:C563218 semap Orphanet:93302 Brachyolmia, Maroteaux type oboInOwl:hasDbXref OMIM:613678 semapv:UnspecifiedMatching Orphanet:93302 Brachyolmia, Maroteaux type oboInOwl:hasDbXref UMLS:C5399913 semapv:UnspecifiedMatching Orphanet:93302 Brachyolmia, Maroteaux type oboInOwl:hasDbXref icd11:LD24.5Y semapv:UnspecifiedMatching -Orphanet:93303 Brachyolmia type 1, Toledo type oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching -Orphanet:93303 Brachyolmia type 1, Toledo type oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching Orphanet:93303 Brachyolmia type 1, Toledo type oboInOwl:hasDbXref OMIM:271630 semapv:UnspecifiedMatching Orphanet:93304 Autosomal dominant brachyolmia oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching Orphanet:93304 Autosomal dominant brachyolmia oboInOwl:hasDbXref ICD10:Q76.3 semapv:UnspecifiedMatching @@ -53316,24 +53574,24 @@ Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type oboInOwl:hasDbXre Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type oboInOwl:hasDbXref OMIM:250220 semapv:UnspecifiedMatching Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type oboInOwl:hasDbXref UMLS:C1855229 semapv:UnspecifiedMatching Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type oboInOwl:hasDbXref icd11:LD24.5Y semapv:UnspecifiedMatching -Orphanet:93320 Ulnar hemimelia oboInOwl:hasDbXref ICD10:Q71.5 semapv:UnspecifiedMatching -Orphanet:93320 Ulnar hemimelia oboInOwl:hasDbXref ICD10:Q71.5 semapv:UnspecifiedMatching -Orphanet:93320 Ulnar hemimelia oboInOwl:hasDbXref UMLS:C0265583 semapv:UnspecifiedMatching -Orphanet:93320 Ulnar hemimelia oboInOwl:hasDbXref icd11:LB99.3 semapv:UnspecifiedMatching -Orphanet:93321 Radial hemimelia oboInOwl:hasDbXref ICD10:Q71.4 semapv:UnspecifiedMatching -Orphanet:93321 Radial hemimelia oboInOwl:hasDbXref ICD10:Q71.4 semapv:UnspecifiedMatching -Orphanet:93321 Radial hemimelia oboInOwl:hasDbXref UMLS:C0265581 semapv:UnspecifiedMatching -Orphanet:93321 Radial hemimelia oboInOwl:hasDbXref icd11:LB99.2 semapv:UnspecifiedMatching -Orphanet:93322 Tibial hemimelia oboInOwl:hasDbXref ICD10:Q72.5 semapv:UnspecifiedMatching -Orphanet:93322 Tibial hemimelia oboInOwl:hasDbXref ICD10:Q72.5 semapv:UnspecifiedMatching -Orphanet:93322 Tibial hemimelia oboInOwl:hasDbXref MESH:C535563 semapv:UnspecifiedMatching -Orphanet:93322 Tibial hemimelia oboInOwl:hasDbXref OMIM:275220 semapv:UnspecifiedMatching -Orphanet:93322 Tibial hemimelia oboInOwl:hasDbXref UMLS:C0265633 semapv:UnspecifiedMatching -Orphanet:93322 Tibial hemimelia oboInOwl:hasDbXref icd11:LB9A.1 semapv:UnspecifiedMatching -Orphanet:93323 Fibular hemimelia oboInOwl:hasDbXref ICD10:Q72.6 semapv:UnspecifiedMatching -Orphanet:93323 Fibular hemimelia oboInOwl:hasDbXref ICD10:Q72.6 semapv:UnspecifiedMatching -Orphanet:93323 Fibular hemimelia oboInOwl:hasDbXref UMLS:C0265634 semapv:UnspecifiedMatching -Orphanet:93323 Fibular hemimelia oboInOwl:hasDbXref icd11:LB9A.2 semapv:UnspecifiedMatching +Orphanet:93320 Isolated ulnar hemimelia oboInOwl:hasDbXref ICD10:Q71.5 semapv:UnspecifiedMatching +Orphanet:93320 Isolated ulnar hemimelia oboInOwl:hasDbXref ICD10:Q71.5 semapv:UnspecifiedMatching +Orphanet:93320 Isolated ulnar hemimelia oboInOwl:hasDbXref UMLS:C0265583 semapv:UnspecifiedMatching +Orphanet:93320 Isolated ulnar hemimelia oboInOwl:hasDbXref icd11:LB99.3 semapv:UnspecifiedMatching +Orphanet:93321 Isolated radial hemimelia oboInOwl:hasDbXref ICD10:Q71.4 semapv:UnspecifiedMatching +Orphanet:93321 Isolated radial hemimelia oboInOwl:hasDbXref ICD10:Q71.4 semapv:UnspecifiedMatching +Orphanet:93321 Isolated radial hemimelia oboInOwl:hasDbXref UMLS:C0265581 semapv:UnspecifiedMatching +Orphanet:93321 Isolated radial hemimelia oboInOwl:hasDbXref icd11:LB99.2 semapv:UnspecifiedMatching +Orphanet:93322 Isolated tibial hemimelia oboInOwl:hasDbXref ICD10:Q72.5 semapv:UnspecifiedMatching +Orphanet:93322 Isolated tibial hemimelia oboInOwl:hasDbXref ICD10:Q72.5 semapv:UnspecifiedMatching +Orphanet:93322 Isolated tibial hemimelia oboInOwl:hasDbXref MESH:C535563 semapv:UnspecifiedMatching +Orphanet:93322 Isolated tibial hemimelia oboInOwl:hasDbXref OMIM:275220 semapv:UnspecifiedMatching +Orphanet:93322 Isolated tibial hemimelia oboInOwl:hasDbXref UMLS:C0265633 semapv:UnspecifiedMatching +Orphanet:93322 Isolated tibial hemimelia oboInOwl:hasDbXref icd11:LB9A.1 semapv:UnspecifiedMatching +Orphanet:93323 Isolated fibular hemimelia oboInOwl:hasDbXref ICD10:Q72.6 semapv:UnspecifiedMatching +Orphanet:93323 Isolated fibular hemimelia oboInOwl:hasDbXref ICD10:Q72.6 semapv:UnspecifiedMatching +Orphanet:93323 Isolated fibular hemimelia oboInOwl:hasDbXref UMLS:C0265634 semapv:UnspecifiedMatching +Orphanet:93323 Isolated fibular hemimelia oboInOwl:hasDbXref icd11:LB9A.2 semapv:UnspecifiedMatching Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome oboInOwl:hasDbXref ICD10:Q87.1 semapv:UnspecifiedMatching Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome oboInOwl:hasDbXref MESH:C537021 semapv:UnspecifiedMatching @@ -53355,6 +53613,7 @@ Orphanet:93329 Autosomal recessive omodysplasia oboInOwl:hasDbXref ICD10:Q78.8 s Orphanet:93329 Autosomal recessive omodysplasia oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:93329 Autosomal recessive omodysplasia oboInOwl:hasDbXref MESH:C537746 semapv:UnspecifiedMatching Orphanet:93329 Autosomal recessive omodysplasia oboInOwl:hasDbXref OMIM:258315 semapv:UnspecifiedMatching +Orphanet:93329 Autosomal recessive omodysplasia oboInOwl:hasDbXref UMLS:C1850318 semapv:UnspecifiedMatching Orphanet:93329 Autosomal recessive omodysplasia oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching Orphanet:93333 Pelviscapular dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching Orphanet:93333 Pelviscapular dysplasia oboInOwl:hasDbXref ICD10:Q87.5 semapv:UnspecifiedMatching @@ -53403,6 +53662,7 @@ Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux oboInOwl:hasDbX Orphanet:93339 Polydactyly of a biphalangeal thumb and/or hallux oboInOwl:hasDbXref icd11:LB78.0 semapv:UnspecifiedMatching Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type oboInOwl:hasDbXref ICD10:Q77.7 semapv:UnspecifiedMatching +Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type oboInOwl:hasDbXref MESH:C537501 semapv:UnspecifiedMatching Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type oboInOwl:hasDbXref OMIM:184250 semapv:UnspecifiedMatching Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type oboInOwl:hasDbXref UMLS:C5681459 semapv:UnspecifiedMatching Orphanet:93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching @@ -53480,8 +53740,6 @@ Orphanet:93384 Brachydactyly type C oboInOwl:hasDbXref MESH:C537093 semapv:Unspe Orphanet:93384 Brachydactyly type C oboInOwl:hasDbXref OMIM:113100 semapv:UnspecifiedMatching Orphanet:93384 Brachydactyly type C oboInOwl:hasDbXref UMLS:C1862103 semapv:UnspecifiedMatching Orphanet:93384 Brachydactyly type C oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching -Orphanet:93385 NON RARE IN EUROPE: Brachydactyly type D oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -Orphanet:93385 NON RARE IN EUROPE: Brachydactyly type D oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93387 Brachydactyly type E oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93387 Brachydactyly type E oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93387 Brachydactyly type E oboInOwl:hasDbXref MESH:C566194 semapv:UnspecifiedMatching @@ -53498,19 +53756,13 @@ Orphanet:93388 Brachydactyly type A1 oboInOwl:hasDbXref OMIM:615072 semapv:Unspe Orphanet:93388 Brachydactyly type A1 oboInOwl:hasDbXref OMIM:616849 semapv:UnspecifiedMatching Orphanet:93388 Brachydactyly type A1 oboInOwl:hasDbXref UMLS:C1862151 semapv:UnspecifiedMatching Orphanet:93388 Brachydactyly type A1 oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching -Orphanet:93389 Brachydactyly type A5 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -Orphanet:93389 Brachydactyly type A5 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93389 Brachydactyly type A5 oboInOwl:hasDbXref UMLS:C1862138 semapv:UnspecifiedMatching -Orphanet:93393 NON RARE IN EUROPE: Brachydactyly type A3 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -Orphanet:93393 NON RARE IN EUROPE: Brachydactyly type A3 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93394 Brachydactyly type A4 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93394 Brachydactyly type A4 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93394 Brachydactyly type A4 oboInOwl:hasDbXref MESH:C537097 semapv:UnspecifiedMatching Orphanet:93394 Brachydactyly type A4 oboInOwl:hasDbXref OMIM:112800 semapv:UnspecifiedMatching Orphanet:93394 Brachydactyly type A4 oboInOwl:hasDbXref UMLS:C1862139 semapv:UnspecifiedMatching Orphanet:93394 Brachydactyly type A4 oboInOwl:hasDbXref icd11:LD26.1 semapv:UnspecifiedMatching -Orphanet:93395 Ballard syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching -Orphanet:93395 Ballard syndrome oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching Orphanet:93395 Ballard syndrome oboInOwl:hasDbXref OMIM:112440 semapv:UnspecifiedMatching Orphanet:93395 Ballard syndrome oboInOwl:hasDbXref UMLS:C1862163 semapv:UnspecifiedMatching Orphanet:93396 Brachydactyly type A2 oboInOwl:hasDbXref ICD10:Q73.8 semapv:UnspecifiedMatching @@ -53585,7 +53837,6 @@ Orphanet:93420 FGFR3-related chondrodysplasia oboInOwl:hasDbXref UMLS:C5681604 s Orphanet:93421 Type 2 collagen-related bone disorder oboInOwl:hasDbXref UMLS:C5681603 semapv:UnspecifiedMatching Orphanet:93422 Type 11 collagen-related bone disorder oboInOwl:hasDbXref UMLS:C5681606 semapv:UnspecifiedMatching Orphanet:93423 Sulfation-related bone disorder oboInOwl:hasDbXref UMLS:C5681607 semapv:UnspecifiedMatching -Orphanet:93424 Perlecan-related bone disorder oboInOwl:hasDbXref UMLS:C5681608 semapv:UnspecifiedMatching Orphanet:93425 Filamin-related bone disorder oboInOwl:hasDbXref UMLS:C5680280 semapv:UnspecifiedMatching Orphanet:93426 Ciliopathies with major skeletal involvement oboInOwl:hasDbXref OMIM:617405 semapv:UnspecifiedMatching Orphanet:93426 Ciliopathies with major skeletal involvement oboInOwl:hasDbXref UMLS:C0432195 semapv:UnspecifiedMatching @@ -53593,7 +53844,9 @@ Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia oboInOwl:h Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia oboInOwl:hasDbXref icd11:LD24.6 semapv:UnspecifiedMatching Orphanet:93430 Multiple metaphyseal dysplasia oboInOwl:hasDbXref UMLS:C5681610 semapv:UnspecifiedMatching Orphanet:93430 Multiple metaphyseal dysplasia oboInOwl:hasDbXref icd11:LD24.7 semapv:UnspecifiedMatching +Orphanet:93434 Spondylodysplastic dysplasia oboInOwl:hasDbXref UMLS:C4736216 semapv:UnspecifiedMatching Orphanet:93434 Spondylodysplastic dysplasia oboInOwl:hasDbXref icd11:LD24.5 semapv:UnspecifiedMatching +Orphanet:93436 Acromelic dysplasia oboInOwl:hasDbXref UMLS:C4736195 semapv:UnspecifiedMatching Orphanet:93436 Acromelic dysplasia oboInOwl:hasDbXref icd11:LD24.8 semapv:UnspecifiedMatching Orphanet:93437 Acromesomelic dysplasia oboInOwl:hasDbXref MESH:C535658 semapv:UnspecifiedMatching Orphanet:93437 Acromesomelic dysplasia oboInOwl:hasDbXref MedDRA:10083866 semapv:UnspecifiedMatching @@ -53604,6 +53857,7 @@ Orphanet:93438 Mesomelic and rhizo-mesomelic dysplasia oboInOwl:hasDbXref icd11: Orphanet:93439 Campomelic dysplasia and related disorders oboInOwl:hasDbXref OMIM:614592 semapv:UnspecifiedMatching Orphanet:93439 Campomelic dysplasia and related disorders oboInOwl:hasDbXref OMIM:620076 semapv:UnspecifiedMatching Orphanet:93439 Campomelic dysplasia and related disorders oboInOwl:hasDbXref UMLS:C0432238 semapv:UnspecifiedMatching +Orphanet:93440 Slender bone dysplasia oboInOwl:hasDbXref UMLS:C4736215 semapv:UnspecifiedMatching Orphanet:93440 Slender bone dysplasia oboInOwl:hasDbXref icd11:LD24.D semapv:UnspecifiedMatching Orphanet:93441 Primary bone dysplasia with multiple joint dislocations oboInOwl:hasDbXref UMLS:C5680275 semapv:UnspecifiedMatching Orphanet:93441 Primary bone dysplasia with multiple joint dislocations oboInOwl:hasDbXref icd11:LD24.E semapv:UnspecifiedMatching @@ -53643,6 +53897,7 @@ Orphanet:93473 Hurler syndrome oboInOwl:hasDbXref icd11:5C56.30 semapv:Unspecifi Orphanet:93474 Scheie syndrome oboInOwl:hasDbXref ICD10:E76.0 semapv:UnspecifiedMatching Orphanet:93474 Scheie syndrome oboInOwl:hasDbXref ICD10:E76.0 semapv:UnspecifiedMatching Orphanet:93474 Scheie syndrome oboInOwl:hasDbXref OMIM:607016 semapv:UnspecifiedMatching +Orphanet:93474 Scheie syndrome oboInOwl:hasDbXref UMLS:C0026708 semapv:UnspecifiedMatching Orphanet:93474 Scheie syndrome oboInOwl:hasDbXref icd11:5C56.30 semapv:UnspecifiedMatching Orphanet:93476 Hurler-Scheie syndrome oboInOwl:hasDbXref ICD10:E76.0 semapv:UnspecifiedMatching Orphanet:93476 Hurler-Scheie syndrome oboInOwl:hasDbXref ICD10:E76.0 semapv:UnspecifiedMatching @@ -53691,8 +53946,6 @@ Orphanet:93558 Light chain deposition disease oboInOwl:hasDbXref ICD10:D89.8 sem Orphanet:93558 Light chain deposition disease oboInOwl:hasDbXref ICD10:D89.8 semapv:UnspecifiedMatching Orphanet:93558 Light chain deposition disease oboInOwl:hasDbXref UMLS:C0238239 semapv:UnspecifiedMatching Orphanet:93558 Light chain deposition disease oboInOwl:hasDbXref icd11:2A83.52 semapv:UnspecifiedMatching -Orphanet:93559 C3 deposition glomerulonephritis without proliferation oboInOwl:hasDbXref ICD10:NO3.5 semapv:UnspecifiedMatching -Orphanet:93559 C3 deposition glomerulonephritis without proliferation oboInOwl:hasDbXref ICD10:NO3.5 semapv:UnspecifiedMatching Orphanet:93560 AApoAI amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:93560 AApoAI amyloidosis oboInOwl:hasDbXref ICD10:E85.0 semapv:UnspecifiedMatching Orphanet:93560 AApoAI amyloidosis oboInOwl:hasDbXref OMIM:105200 semapv:UnspecifiedMatching @@ -53713,12 +53966,7 @@ Orphanet:93568 Juvenile polymyositis oboInOwl:hasDbXref ICD10:M33.2 semapv:Unspe Orphanet:93568 Juvenile polymyositis oboInOwl:hasDbXref MedDRA:10076673 semapv:UnspecifiedMatching Orphanet:93568 Juvenile polymyositis oboInOwl:hasDbXref UMLS:C3826988 semapv:UnspecifiedMatching Orphanet:93568 Juvenile polymyositis oboInOwl:hasDbXref icd11:4A41.10 semapv:UnspecifiedMatching -Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref ICD10:M35.3 semapv:UnspecifiedMatching -Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref ICD10:M35.3 semapv:UnspecifiedMatching -Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref MESH:D011111 semapv:UnspecifiedMatching -Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref MedDRA:10036099 semapv:UnspecifiedMatching -Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref UMLS:C0032533 semapv:UnspecifiedMatching -Orphanet:93569 Polymyalgia rheumatica oboInOwl:hasDbXref icd11:FA22 semapv:UnspecifiedMatching +Orphanet:93569 NON RARE IN EUROPE: Polymyalgia rheumatica oboInOwl:hasDbXref icd11:FA22 semapv:UnspecifiedMatching Orphanet:93571 Dense deposit disease oboInOwl:hasDbXref ICD10:N03.6 semapv:UnspecifiedMatching Orphanet:93571 Dense deposit disease oboInOwl:hasDbXref ICD10:N03.6 semapv:UnspecifiedMatching Orphanet:93571 Dense deposit disease oboInOwl:hasDbXref OMIM:609814 semapv:UnspecifiedMatching @@ -53780,6 +54028,7 @@ Orphanet:936 Succinic acidemia oboInOwl:hasDbXref UMLS:C1838243 semapv:Unspecifi Orphanet:93600 Primary hyperoxaluria type 3 oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching Orphanet:93600 Primary hyperoxaluria type 3 oboInOwl:hasDbXref ICD10:E74.8 semapv:UnspecifiedMatching Orphanet:93600 Primary hyperoxaluria type 3 oboInOwl:hasDbXref OMIM:613616 semapv:UnspecifiedMatching +Orphanet:93600 Primary hyperoxaluria type 3 oboInOwl:hasDbXref UMLS:C3150878 semapv:UnspecifiedMatching Orphanet:93600 Primary hyperoxaluria type 3 oboInOwl:hasDbXref icd11:5C51.2Y semapv:UnspecifiedMatching Orphanet:93601 Xanthinuria type I oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching Orphanet:93601 Xanthinuria type I oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching @@ -53816,15 +54065,11 @@ Orphanet:93608 Autosomal dominant distal renal tubular acidosis oboInOwl:hasDbXr Orphanet:93608 Autosomal dominant distal renal tubular acidosis oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching Orphanet:93608 Autosomal dominant distal renal tubular acidosis oboInOwl:hasDbXref OMIM:179800 semapv:UnspecifiedMatching Orphanet:93608 Autosomal dominant distal renal tubular acidosis oboInOwl:hasDbXref icd11:GB90.44 semapv:UnspecifiedMatching -Orphanet:93609 Autosomal recessive distal renal tubular acidosis without deafness oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -Orphanet:93609 Autosomal recessive distal renal tubular acidosis without deafness oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching Orphanet:93610 Distal renal tubular acidosis with anemia oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching Orphanet:93610 Distal renal tubular acidosis with anemia oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching Orphanet:93610 Distal renal tubular acidosis with anemia oboInOwl:hasDbXref OMIM:611590 semapv:UnspecifiedMatching Orphanet:93610 Distal renal tubular acidosis with anemia oboInOwl:hasDbXref UMLS:C5680287 semapv:UnspecifiedMatching Orphanet:93610 Distal renal tubular acidosis with anemia oboInOwl:hasDbXref icd11:GB90.44 semapv:UnspecifiedMatching -Orphanet:93611 Autosomal recessive distal renal tubular acidosis with deafness oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching -Orphanet:93611 Autosomal recessive distal renal tubular acidosis with deafness oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching Orphanet:93611 Autosomal recessive distal renal tubular acidosis with deafness oboInOwl:hasDbXref UMLS:C0403554 semapv:UnspecifiedMatching Orphanet:93612 Cystinuria type A oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching Orphanet:93612 Cystinuria type A oboInOwl:hasDbXref ICD10:E72.0 semapv:UnspecifiedMatching @@ -53907,6 +54152,7 @@ Orphanet:93926 Midline interhemispheric variant of holoprosencephaly oboInOwl:ha Orphanet:93926 Midline interhemispheric variant of holoprosencephaly oboInOwl:hasDbXref OMIM:157170 semapv:UnspecifiedMatching Orphanet:93926 Midline interhemispheric variant of holoprosencephaly oboInOwl:hasDbXref OMIM:609637 semapv:UnspecifiedMatching Orphanet:93926 Midline interhemispheric variant of holoprosencephaly oboInOwl:hasDbXref OMIM:610829 semapv:UnspecifiedMatching +Orphanet:93926 Midline interhemispheric variant of holoprosencephaly oboInOwl:hasDbXref UMLS:C5396362 semapv:UnspecifiedMatching Orphanet:93926 Midline interhemispheric variant of holoprosencephaly oboInOwl:hasDbXref icd11:LA05.2 semapv:UnspecifiedMatching Orphanet:93928 Isolated epispadias oboInOwl:hasDbXref ICD10:Q64.0 semapv:UnspecifiedMatching Orphanet:93928 Isolated epispadias oboInOwl:hasDbXref ICD10:Q64.0 semapv:UnspecifiedMatching @@ -53935,21 +54181,21 @@ Orphanet:93932 FG syndrome type 1 oboInOwl:hasDbXref UMLS:C5399762 semapv:Unspec Orphanet:93932 FG syndrome type 1 oboInOwl:hasDbXref icd11:LD2F.1Y semapv:UnspecifiedMatching Orphanet:93938 Laryngotracheoesophageal cleft type 1 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching Orphanet:93938 Laryngotracheoesophageal cleft type 1 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching +Orphanet:93938 Laryngotracheoesophageal cleft type 1 oboInOwl:hasDbXref UMLS:C0584823 semapv:UnspecifiedMatching Orphanet:93938 Laryngotracheoesophageal cleft type 1 oboInOwl:hasDbXref icd11:LA72 semapv:UnspecifiedMatching Orphanet:93939 Laryngotracheoesophageal cleft type 2 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching Orphanet:93939 Laryngotracheoesophageal cleft type 2 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching +Orphanet:93939 Laryngotracheoesophageal cleft type 2 oboInOwl:hasDbXref UMLS:C0584824 semapv:UnspecifiedMatching Orphanet:93939 Laryngotracheoesophageal cleft type 2 oboInOwl:hasDbXref icd11:LA72 semapv:UnspecifiedMatching Orphanet:93940 Laryngotracheoesophageal cleft type 3 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching Orphanet:93940 Laryngotracheoesophageal cleft type 3 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching Orphanet:93940 Laryngotracheoesophageal cleft type 3 oboInOwl:hasDbXref OMIM:215800 semapv:UnspecifiedMatching +Orphanet:93940 Laryngotracheoesophageal cleft type 3 oboInOwl:hasDbXref UMLS:C0584825 semapv:UnspecifiedMatching Orphanet:93940 Laryngotracheoesophageal cleft type 3 oboInOwl:hasDbXref icd11:LA72 semapv:UnspecifiedMatching Orphanet:93941 Laryngotracheoesophageal cleft type 4 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching Orphanet:93941 Laryngotracheoesophageal cleft type 4 oboInOwl:hasDbXref ICD10:Q32.1 semapv:UnspecifiedMatching +Orphanet:93941 Laryngotracheoesophageal cleft type 4 oboInOwl:hasDbXref UMLS:C0584827 semapv:UnspecifiedMatching Orphanet:93941 Laryngotracheoesophageal cleft type 4 oboInOwl:hasDbXref icd11:LA72 semapv:UnspecifiedMatching -Orphanet:93943 Corpus callosum dysgenesis-hypopituitarism syndrome oboInOwl:hasDbXref ICD10:Q04.4 semapv:UnspecifiedMatching -Orphanet:93943 Corpus callosum dysgenesis-hypopituitarism syndrome oboInOwl:hasDbXref ICD10:Q04.4 semapv:UnspecifiedMatching -Orphanet:93944 X-linked intellectual disability, Fichera type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:93944 X-linked intellectual disability, Fichera type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:93945 X-linked intellectual disability, Porteous type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:93945 X-linked intellectual disability, Porteous type oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:93945 X-linked intellectual disability, Porteous type oboInOwl:hasDbXref OMIM:309500 semapv:UnspecifiedMatching @@ -53970,6 +54216,8 @@ Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type oboInOwl:h Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type oboInOwl:hasDbXref OMIM:309500 semapv:UnspecifiedMatching Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type oboInOwl:hasDbXref UMLS:C5681613 semapv:UnspecifiedMatching Orphanet:93950 X-linked intellectual disability, Sutherland-Haan type oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching +Orphanet:93952 X-linked intellectual disability, Hedera type oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching +Orphanet:93952 X-linked intellectual disability, Hedera type oboInOwl:hasDbXref ICD10:G25.8 semapv:UnspecifiedMatching Orphanet:93952 X-linked intellectual disability, Hedera type oboInOwl:hasDbXref MESH:C564516 semapv:UnspecifiedMatching Orphanet:93952 X-linked intellectual disability, Hedera type oboInOwl:hasDbXref OMIM:300423 semapv:UnspecifiedMatching Orphanet:93952 X-linked intellectual disability, Hedera type oboInOwl:hasDbXref UMLS:C1845543 semapv:UnspecifiedMatching @@ -53991,8 +54239,6 @@ Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome oboInOwl:hasDbXref Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome oboInOwl:hasDbXref MedDRA:10027138 semapv:UnspecifiedMatching Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome oboInOwl:hasDbXref UMLS:C0025183 semapv:UnspecifiedMatching Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome oboInOwl:hasDbXref icd11:8A02.0Y semapv:UnspecifiedMatching -Orphanet:93968 Meningocele oboInOwl:hasDbXref ICD10:Q05 semapv:UnspecifiedMatching -Orphanet:93968 Meningocele oboInOwl:hasDbXref ICD10:Q05 semapv:UnspecifiedMatching Orphanet:93968 Meningocele oboInOwl:hasDbXref MESH:D008588 semapv:UnspecifiedMatching Orphanet:93968 Meningocele oboInOwl:hasDbXref MedDRA:10027266 semapv:UnspecifiedMatching Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.0 semapv:UnspecifiedMatching @@ -54017,18 +54263,7 @@ Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref ICD10:Q05.9 semapv:UnspecifiedMatching Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref UMLS:C0025312 semapv:UnspecifiedMatching Orphanet:93969 Open spinal dysraphism with a myelomeningocele oboInOwl:hasDbXref icd11:LA02.1 semapv:UnspecifiedMatching -Orphanet:93970 Holmes-Gang syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -Orphanet:93970 Holmes-Gang syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -Orphanet:93971 Chudley-Lowry-Hoar syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -Orphanet:93971 Chudley-Lowry-Hoar syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -Orphanet:93972 Juberg-Marsidi syndrome oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching -Orphanet:93972 Juberg-Marsidi syndrome oboInOwl:hasDbXref ICD10:F84.8 semapv:UnspecifiedMatching -Orphanet:93972 Juberg-Marsidi syndrome oboInOwl:hasDbXref MESH:C537457 semapv:UnspecifiedMatching Orphanet:93972 Juberg-Marsidi syndrome oboInOwl:hasDbXref UMLS:C0796003 semapv:UnspecifiedMatching -Orphanet:93973 Carpenter-Waziri syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -Orphanet:93973 Carpenter-Waziri syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -Orphanet:93974 Smith-Fineman-Myers syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching -Orphanet:93974 Smith-Fineman-Myers syndrome oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching Orphanet:93974 Smith-Fineman-Myers syndrome oboInOwl:hasDbXref UMLS:C0796159 semapv:UnspecifiedMatching Orphanet:93976 Anotia oboInOwl:hasDbXref ICD10:Q16.0 semapv:UnspecifiedMatching Orphanet:93976 Anotia oboInOwl:hasDbXref ICD10:Q16.0 semapv:UnspecifiedMatching @@ -54042,10 +54277,10 @@ Orphanet:94 Astrocytoma oboInOwl:hasDbXref MESH:D001254 semapv:UnspecifiedMatchi Orphanet:94 Astrocytoma oboInOwl:hasDbXref MedDRA:10003571 semapv:UnspecifiedMatching Orphanet:94 Astrocytoma oboInOwl:hasDbXref OMIM:137800 semapv:UnspecifiedMatching Orphanet:94 Astrocytoma oboInOwl:hasDbXref UMLS:C0004114 semapv:UnspecifiedMatching -Orphanet:94056 Humero-ulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -Orphanet:94056 Humero-ulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching -Orphanet:94056 Humero-ulnar synostosis oboInOwl:hasDbXref UMLS:C0431799 semapv:UnspecifiedMatching -Orphanet:94056 Humero-ulnar synostosis oboInOwl:hasDbXref icd11:LB90.2 semapv:UnspecifiedMatching +Orphanet:94056 Isolated humero-ulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:94056 Isolated humero-ulnar synostosis oboInOwl:hasDbXref ICD10:Q74.0 semapv:UnspecifiedMatching +Orphanet:94056 Isolated humero-ulnar synostosis oboInOwl:hasDbXref UMLS:C0431799 semapv:UnspecifiedMatching +Orphanet:94056 Isolated humero-ulnar synostosis oboInOwl:hasDbXref icd11:LB90.2 semapv:UnspecifiedMatching Orphanet:94058 Neovascular glaucoma oboInOwl:hasDbXref ICD10:H40.5 semapv:UnspecifiedMatching Orphanet:94058 Neovascular glaucoma oboInOwl:hasDbXref ICD10:H40.5 semapv:UnspecifiedMatching Orphanet:94058 Neovascular glaucoma oboInOwl:hasDbXref MESH:D015355 semapv:UnspecifiedMatching @@ -54057,8 +54292,6 @@ Orphanet:94059 Uremic pruritus oboInOwl:hasDbXref ICD10:L29.8 semapv:Unspecified Orphanet:94059 Uremic pruritus oboInOwl:hasDbXref MedDRA:10060875 semapv:UnspecifiedMatching Orphanet:94059 Uremic pruritus oboInOwl:hasDbXref UMLS:C1262019 semapv:UnspecifiedMatching Orphanet:94059 Uremic pruritus oboInOwl:hasDbXref icd11:EC90.10 semapv:UnspecifiedMatching -Orphanet:94062 NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching -Orphanet:94062 NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome oboInOwl:hasDbXref ICD10:E88.8 semapv:UnspecifiedMatching Orphanet:94063 12q14 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:94063 12q14 microdeletion syndrome oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:94063 12q14 microdeletion syndrome oboInOwl:hasDbXref OMIM:166700 semapv:UnspecifiedMatching @@ -54097,9 +54330,6 @@ Orphanet:94083 Partington syndrome oboInOwl:hasDbXref MESH:C536300 semapv:Unspec Orphanet:94083 Partington syndrome oboInOwl:hasDbXref OMIM:309510 semapv:UnspecifiedMatching Orphanet:94083 Partington syndrome oboInOwl:hasDbXref UMLS:C0796250 semapv:UnspecifiedMatching Orphanet:94083 Partington syndrome oboInOwl:hasDbXref icd11:LD90.Y semapv:UnspecifiedMatching -Orphanet:94084 Cerebro-oculo-facial-lymphatic syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -Orphanet:94084 Cerebro-oculo-facial-lymphatic syndrome oboInOwl:hasDbXref ICD10:Q04.3 semapv:UnspecifiedMatching -Orphanet:94084 Cerebro-oculo-facial-lymphatic syndrome oboInOwl:hasDbXref OMIM:243310 semapv:UnspecifiedMatching Orphanet:94084 Cerebro-oculo-facial-lymphatic syndrome oboInOwl:hasDbXref UMLS:C1853623 semapv:UnspecifiedMatching Orphanet:94086 Blue diaper syndrome oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching Orphanet:94086 Blue diaper syndrome oboInOwl:hasDbXref ICD10:E70.8 semapv:UnspecifiedMatching @@ -54109,6 +54339,7 @@ Orphanet:94086 Blue diaper syndrome oboInOwl:hasDbXref UMLS:C0268478 semapv:Unsp Orphanet:94086 Blue diaper syndrome oboInOwl:hasDbXref icd11:5C60.Y semapv:UnspecifiedMatching Orphanet:94087 Cytophagic histiocytic panniculitis oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching Orphanet:94087 Cytophagic histiocytic panniculitis oboInOwl:hasDbXref ICD10:M35.8 semapv:UnspecifiedMatching +Orphanet:94087 Cytophagic histiocytic panniculitis oboInOwl:hasDbXref MedDRA:10081137 semapv:UnspecifiedMatching Orphanet:94087 Cytophagic histiocytic panniculitis oboInOwl:hasDbXref UMLS:C0406594 semapv:UnspecifiedMatching Orphanet:94087 Cytophagic histiocytic panniculitis oboInOwl:hasDbXref icd11:EE8Y semapv:UnspecifiedMatching Orphanet:94088 Hereditary renal hypouricemia oboInOwl:hasDbXref ICD10:N25.8 semapv:UnspecifiedMatching @@ -54170,6 +54401,7 @@ Orphanet:94149 Autosomal dominant cerebellar ataxia type IV oboInOwl:hasDbXref U Orphanet:94150 Anonychia congenita totalis oboInOwl:hasDbXref ICD10:Q84.3 semapv:UnspecifiedMatching Orphanet:94150 Anonychia congenita totalis oboInOwl:hasDbXref ICD10:Q84.3 semapv:UnspecifiedMatching Orphanet:94150 Anonychia congenita totalis oboInOwl:hasDbXref OMIM:206800 semapv:UnspecifiedMatching +Orphanet:94150 Anonychia congenita totalis oboInOwl:hasDbXref UMLS:C3277900 semapv:UnspecifiedMatching Orphanet:94150 Anonychia congenita totalis oboInOwl:hasDbXref icd11:EC22.0 semapv:UnspecifiedMatching Orphanet:943 Malonic aciduria oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching Orphanet:943 Malonic aciduria oboInOwl:hasDbXref ICD10:E72.8 semapv:UnspecifiedMatching @@ -54211,7 +54443,6 @@ Orphanet:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref MESH:D017121 se Orphanet:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref OMIM:176100 semapv:UnspecifiedMatching Orphanet:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref UMLS:C0162569 semapv:UnspecifiedMatching Orphanet:95159 Hepatoerythropoietic porphyria oboInOwl:hasDbXref icd11:5C58.1Y semapv:UnspecifiedMatching -Orphanet:95161 Chronic hepatic porphyria oboInOwl:hasDbXref UMLS:C5681578 semapv:UnspecifiedMatching Orphanet:952 Acrofacial dysostosis, Weyers type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:952 Acrofacial dysostosis, Weyers type oboInOwl:hasDbXref ICD10:Q75.4 semapv:UnspecifiedMatching Orphanet:952 Acrofacial dysostosis, Weyers type oboInOwl:hasDbXref MESH:C536695 semapv:UnspecifiedMatching @@ -54225,6 +54456,7 @@ Orphanet:95232 Lissencephaly due to LIS1 mutation oboInOwl:hasDbXref UMLS:C47493 Orphanet:95232 Lissencephaly due to LIS1 mutation oboInOwl:hasDbXref icd11:LD20.1 semapv:UnspecifiedMatching Orphanet:95409 Acute adrenal insufficiency oboInOwl:hasDbXref ICD10:E27.2 semapv:UnspecifiedMatching Orphanet:95409 Acute adrenal insufficiency oboInOwl:hasDbXref ICD10:E27.2 semapv:UnspecifiedMatching +Orphanet:95409 Acute adrenal insufficiency oboInOwl:hasDbXref MedDRA:10001389 semapv:UnspecifiedMatching Orphanet:95409 Acute adrenal insufficiency oboInOwl:hasDbXref UMLS:C0151467 semapv:UnspecifiedMatching Orphanet:95409 Acute adrenal insufficiency oboInOwl:hasDbXref icd11:5A74.1 semapv:UnspecifiedMatching Orphanet:95427 Secondary short bowel syndrome oboInOwl:hasDbXref ICD10:K91.2 semapv:UnspecifiedMatching @@ -54238,6 +54470,7 @@ Orphanet:95428 COG8-CDG oboInOwl:hasDbXref UMLS:C1970021 semapv:UnspecifiedMatch Orphanet:95428 COG8-CDG oboInOwl:hasDbXref icd11:5C54.2 semapv:UnspecifiedMatching Orphanet:95429 Angioma serpiginosum oboInOwl:hasDbXref ICD10:L81.7 semapv:UnspecifiedMatching Orphanet:95429 Angioma serpiginosum oboInOwl:hasDbXref ICD10:L81.7 semapv:UnspecifiedMatching +Orphanet:95429 Angioma serpiginosum oboInOwl:hasDbXref MedDRA:10086217 semapv:UnspecifiedMatching Orphanet:95429 Angioma serpiginosum oboInOwl:hasDbXref OMIM:106050 semapv:UnspecifiedMatching Orphanet:95429 Angioma serpiginosum oboInOwl:hasDbXref OMIM:300652 semapv:UnspecifiedMatching Orphanet:95429 Angioma serpiginosum oboInOwl:hasDbXref UMLS:C0263637 semapv:UnspecifiedMatching @@ -54318,8 +54551,6 @@ Orphanet:95485 Arterial duct anomaly oboInOwl:hasDbXref UMLS:C5680258 semapv:Uns Orphanet:95486 Premature closure of the arterial duct oboInOwl:hasDbXref ICD10:Q25.8 semapv:UnspecifiedMatching Orphanet:95486 Premature closure of the arterial duct oboInOwl:hasDbXref ICD10:Q25.8 semapv:UnspecifiedMatching Orphanet:95486 Premature closure of the arterial duct oboInOwl:hasDbXref UMLS:C3532264 semapv:UnspecifiedMatching -Orphanet:95487 NON RARE IN EUROPE: Atypical arterial duct oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching -Orphanet:95487 NON RARE IN EUROPE: Atypical arterial duct oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching Orphanet:95488 Non-acquired pituitary hormone deficiency oboInOwl:hasDbXref UMLS:C5681572 semapv:UnspecifiedMatching Orphanet:95491 Congenital coronary artery aneurysm oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching Orphanet:95491 Congenital coronary artery aneurysm oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching @@ -54368,8 +54599,6 @@ Orphanet:95512 Adenohypophysitis oboInOwl:hasDbXref UMLS:C5190880 semapv:Unspeci Orphanet:95513 Panhypophysitis oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching Orphanet:95513 Panhypophysitis oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching Orphanet:95513 Panhypophysitis oboInOwl:hasDbXref UMLS:C5190786 semapv:UnspecifiedMatching -Orphanet:956 Acropectororenal dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:956 Acropectororenal dysplasia oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:95611 Pituitary hormone deficiency of vascular origin oboInOwl:hasDbXref UMLS:C5681571 semapv:UnspecifiedMatching Orphanet:95613 Pituitary apoplexy oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching Orphanet:95613 Pituitary apoplexy oboInOwl:hasDbXref ICD10:E23.6 semapv:UnspecifiedMatching @@ -54382,12 +54611,10 @@ Orphanet:95618 Pituitary hormone deficiency secondary to storage disease oboInOw Orphanet:95619 Post-traumatic pituitary deficiency oboInOwl:hasDbXref ICD10:E23.1 semapv:UnspecifiedMatching Orphanet:95619 Post-traumatic pituitary deficiency oboInOwl:hasDbXref ICD10:E23.1 semapv:UnspecifiedMatching Orphanet:95619 Post-traumatic pituitary deficiency oboInOwl:hasDbXref UMLS:C0342400 semapv:UnspecifiedMatching -Orphanet:95626 Acquired central diabetes insipidus oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching -Orphanet:95626 Acquired central diabetes insipidus oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching -Orphanet:95626 Acquired central diabetes insipidus oboInOwl:hasDbXref UMLS:C5680256 semapv:UnspecifiedMatching -Orphanet:95626 Acquired central diabetes insipidus oboInOwl:hasDbXref icd11:5A61.5 semapv:UnspecifiedMatching -Orphanet:95698 NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching -Orphanet:95698 NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching +Orphanet:95626 Acquired arginine vasopressin deficiency oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching +Orphanet:95626 Acquired arginine vasopressin deficiency oboInOwl:hasDbXref ICD10:E23.2 semapv:UnspecifiedMatching +Orphanet:95626 Acquired arginine vasopressin deficiency oboInOwl:hasDbXref UMLS:C5680256 semapv:UnspecifiedMatching +Orphanet:95626 Acquired arginine vasopressin deficiency oboInOwl:hasDbXref icd11:5A61.5 semapv:UnspecifiedMatching Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref ICD10:E25.0 semapv:UnspecifiedMatching Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency oboInOwl:hasDbXref OMIM:613571 semapv:UnspecifiedMatching @@ -54426,12 +54653,12 @@ Orphanet:95707 Idiopathic isolated micropenis oboInOwl:hasDbXref ICD10:Q55.6 sem Orphanet:95707 Idiopathic isolated micropenis oboInOwl:hasDbXref UMLS:C5681560 semapv:UnspecifiedMatching Orphanet:95707 Idiopathic isolated micropenis oboInOwl:hasDbXref icd11:LB50 semapv:UnspecifiedMatching Orphanet:95708 Rare precocious puberty oboInOwl:hasDbXref UMLS:C5681561 semapv:UnspecifiedMatching -Orphanet:95709 Acquired premature ovarian failure oboInOwl:hasDbXref ICD10:E28.8 semapv:UnspecifiedMatching -Orphanet:95709 Acquired premature ovarian failure oboInOwl:hasDbXref ICD10:E28.8 semapv:UnspecifiedMatching -Orphanet:95709 Acquired premature ovarian failure oboInOwl:hasDbXref UMLS:C4303540 semapv:UnspecifiedMatching -Orphanet:95710 Non-acquired premature ovarian failure oboInOwl:hasDbXref ICD10:E28.3 semapv:UnspecifiedMatching -Orphanet:95710 Non-acquired premature ovarian failure oboInOwl:hasDbXref ICD10:E28.3 semapv:UnspecifiedMatching -Orphanet:95710 Non-acquired premature ovarian failure oboInOwl:hasDbXref UMLS:C5681564 semapv:UnspecifiedMatching +Orphanet:95709 Rare acquired premature ovarian failure oboInOwl:hasDbXref ICD10:E28.8 semapv:UnspecifiedMatching +Orphanet:95709 Rare acquired premature ovarian failure oboInOwl:hasDbXref ICD10:E28.8 semapv:UnspecifiedMatching +Orphanet:95709 Rare acquired premature ovarian failure oboInOwl:hasDbXref UMLS:C4303540 semapv:UnspecifiedMatching +Orphanet:95710 Rare non-acquired premature ovarian failure oboInOwl:hasDbXref ICD10:E28.3 semapv:UnspecifiedMatching +Orphanet:95710 Rare non-acquired premature ovarian failure oboInOwl:hasDbXref ICD10:E28.3 semapv:UnspecifiedMatching +Orphanet:95710 Rare non-acquired premature ovarian failure oboInOwl:hasDbXref UMLS:C5681564 semapv:UnspecifiedMatching Orphanet:95711 Congenital hypothyroidism due to developmental anomaly oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching Orphanet:95711 Congenital hypothyroidism due to developmental anomaly oboInOwl:hasDbXref ICD10:E03.1 semapv:UnspecifiedMatching Orphanet:95711 Congenital hypothyroidism due to developmental anomaly oboInOwl:hasDbXref UMLS:C5680255 semapv:UnspecifiedMatching @@ -54689,27 +54916,34 @@ Orphanet:96170 Emanuel syndrome oboInOwl:hasDbXref icd11:LD41.Q semapv:Unspecifi Orphanet:96171 Ring chromosome 2 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:96171 Ring chromosome 2 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:96171 Ring chromosome 2 syndrome oboInOwl:hasDbXref UMLS:C4707448 semapv:UnspecifiedMatching +Orphanet:96171 Ring chromosome 2 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:96172 Ring chromosome 3 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:96172 Ring chromosome 3 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:96172 Ring chromosome 3 syndrome oboInOwl:hasDbXref UMLS:C4707449 semapv:UnspecifiedMatching +Orphanet:96172 Ring chromosome 3 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:96173 Ring chromosome 9 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:96173 Ring chromosome 9 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:96173 Ring chromosome 9 syndrome oboInOwl:hasDbXref MESH:C538022 semapv:UnspecifiedMatching Orphanet:96173 Ring chromosome 9 syndrome oboInOwl:hasDbXref UMLS:C0265430 semapv:UnspecifiedMatching +Orphanet:96173 Ring chromosome 9 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:96175 Ring chromosome 11 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:96175 Ring chromosome 11 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:96175 Ring chromosome 11 syndrome oboInOwl:hasDbXref UMLS:C0265444 semapv:UnspecifiedMatching +Orphanet:96175 Ring chromosome 11 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:96176 Ring chromosome 13 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:96176 Ring chromosome 13 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:96176 Ring chromosome 13 syndrome oboInOwl:hasDbXref MESH:C538303 semapv:UnspecifiedMatching Orphanet:96176 Ring chromosome 13 syndrome oboInOwl:hasDbXref UMLS:C0795847 semapv:UnspecifiedMatching +Orphanet:96176 Ring chromosome 13 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:96177 Ring chromosome 15 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:96177 Ring chromosome 15 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:96177 Ring chromosome 15 syndrome oboInOwl:hasDbXref MESH:C538035 semapv:UnspecifiedMatching Orphanet:96177 Ring chromosome 15 syndrome oboInOwl:hasDbXref UMLS:C0795855 semapv:UnspecifiedMatching +Orphanet:96177 Ring chromosome 15 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:96178 Ring chromosome 16 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:96178 Ring chromosome 16 syndrome oboInOwl:hasDbXref ICD10:Q93.2 semapv:UnspecifiedMatching Orphanet:96178 Ring chromosome 16 syndrome oboInOwl:hasDbXref UMLS:C4706449 semapv:UnspecifiedMatching +Orphanet:96178 Ring chromosome 16 syndrome oboInOwl:hasDbXref icd11:LD7Y semapv:UnspecifiedMatching Orphanet:96179 Maternal uniparental disomy of chromosome 2 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:96179 Maternal uniparental disomy of chromosome 2 oboInOwl:hasDbXref ICD10:Q99.8 semapv:UnspecifiedMatching Orphanet:96179 Maternal uniparental disomy of chromosome 2 oboInOwl:hasDbXref UMLS:C4707718 semapv:UnspecifiedMatching @@ -54904,8 +55138,6 @@ Orphanet:97230 Solar urticaria oboInOwl:hasDbXref MESH:D000092130 semapv:Unspeci Orphanet:97230 Solar urticaria oboInOwl:hasDbXref MedDRA:10041307 semapv:UnspecifiedMatching Orphanet:97230 Solar urticaria oboInOwl:hasDbXref UMLS:C0263610 semapv:UnspecifiedMatching Orphanet:97230 Solar urticaria oboInOwl:hasDbXref icd11:EB01.Y semapv:UnspecifiedMatching -Orphanet:97231 Ligneous conjunctivitis oboInOwl:hasDbXref ICD10:L90.5 semapv:UnspecifiedMatching -Orphanet:97231 Ligneous conjunctivitis oboInOwl:hasDbXref ICD10:L90.5 semapv:UnspecifiedMatching Orphanet:97231 Ligneous conjunctivitis oboInOwl:hasDbXref MedDRA:10071570 semapv:UnspecifiedMatching Orphanet:97231 Ligneous conjunctivitis oboInOwl:hasDbXref UMLS:C1274789 semapv:UnspecifiedMatching Orphanet:97232 Fingerprint body myopathy oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching @@ -54958,7 +55190,6 @@ Orphanet:97249 Pontocerebellar hypoplasia type 3 oboInOwl:hasDbXref icd11:LD20.0 Orphanet:97252 Mega-cisterna magna oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:97252 Mega-cisterna magna oboInOwl:hasDbXref ICD10:Q07.8 semapv:UnspecifiedMatching Orphanet:97252 Mega-cisterna magna oboInOwl:hasDbXref UMLS:C3164501 semapv:UnspecifiedMatching -Orphanet:97253 Neuroendocrine tumor of pancreas oboInOwl:hasDbXref UMLS:C4305467 semapv:UnspecifiedMatching Orphanet:97253 Neuroendocrine tumor of pancreas oboInOwl:hasDbXref icd11:2C10.1 semapv:UnspecifiedMatching Orphanet:97261 GRFoma oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching Orphanet:97261 GRFoma oboInOwl:hasDbXref ICD10:C25.9 semapv:UnspecifiedMatching @@ -55032,21 +55263,18 @@ Orphanet:97292 Cardiogenic shock oboInOwl:hasDbXref MedDRA:10007625 semapv:Unspe Orphanet:97292 Cardiogenic shock oboInOwl:hasDbXref UMLS:C0036980 semapv:UnspecifiedMatching Orphanet:97292 Cardiogenic shock oboInOwl:hasDbXref icd11:MG40.0 semapv:UnspecifiedMatching Orphanet:97293 Rare benign ovarian tumor oboInOwl:hasDbXref UMLS:C5681535 semapv:UnspecifiedMatching -Orphanet:97295 Furlong syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching -Orphanet:97295 Furlong syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching Orphanet:97295 Furlong syndrome oboInOwl:hasDbXref MESH:C538192 semapv:UnspecifiedMatching -Orphanet:97295 Furlong syndrome oboInOwl:hasDbXref OMIM:609192 semapv:UnspecifiedMatching Orphanet:97295 Furlong syndrome oboInOwl:hasDbXref UMLS:C2931764 semapv:UnspecifiedMatching Orphanet:97297 Bohring-Opitz syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:97297 Bohring-Opitz syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:97297 Bohring-Opitz syndrome oboInOwl:hasDbXref MESH:C537419 semapv:UnspecifiedMatching Orphanet:97297 Bohring-Opitz syndrome oboInOwl:hasDbXref OMIM:605039 semapv:UnspecifiedMatching Orphanet:97297 Bohring-Opitz syndrome oboInOwl:hasDbXref UMLS:C0796232 semapv:UnspecifiedMatching -Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching -Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching -Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral oboInOwl:hasDbXref MESH:C562417 semapv:UnspecifiedMatching -Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral oboInOwl:hasDbXref OMIM:102650 semapv:UnspecifiedMatching -Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral oboInOwl:hasDbXref icd11:LB99.7 semapv:UnspecifiedMatching +Orphanet:973 Isolated absence/hypoplasia of fingers excluding thumb, unilateral oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching +Orphanet:973 Isolated absence/hypoplasia of fingers excluding thumb, unilateral oboInOwl:hasDbXref ICD10:Q71.3 semapv:UnspecifiedMatching +Orphanet:973 Isolated absence/hypoplasia of fingers excluding thumb, unilateral oboInOwl:hasDbXref MESH:C562417 semapv:UnspecifiedMatching +Orphanet:973 Isolated absence/hypoplasia of fingers excluding thumb, unilateral oboInOwl:hasDbXref OMIM:102650 semapv:UnspecifiedMatching +Orphanet:973 Isolated absence/hypoplasia of fingers excluding thumb, unilateral oboInOwl:hasDbXref icd11:LB99.7 semapv:UnspecifiedMatching Orphanet:97330 Thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching Orphanet:97330 Thoracic outlet syndrome oboInOwl:hasDbXref ICD10:G54.0 semapv:UnspecifiedMatching Orphanet:97330 Thoracic outlet syndrome oboInOwl:hasDbXref MESH:D013901 semapv:UnspecifiedMatching @@ -55142,6 +55370,7 @@ Orphanet:97360 Robinow syndrome oboInOwl:hasDbXref OMIM:268310 semapv:Unspecifie Orphanet:97360 Robinow syndrome oboInOwl:hasDbXref OMIM:616331 semapv:UnspecifiedMatching Orphanet:97360 Robinow syndrome oboInOwl:hasDbXref OMIM:616894 semapv:UnspecifiedMatching Orphanet:97360 Robinow syndrome oboInOwl:hasDbXref UMLS:C0265205 semapv:UnspecifiedMatching +Orphanet:97360 Robinow syndrome oboInOwl:hasDbXref icd11:LD24.A semapv:UnspecifiedMatching Orphanet:97361 Renal hypoplasia, unilateral oboInOwl:hasDbXref ICD10:Q60.3 semapv:UnspecifiedMatching Orphanet:97361 Renal hypoplasia, unilateral oboInOwl:hasDbXref ICD10:Q60.3 semapv:UnspecifiedMatching Orphanet:97361 Renal hypoplasia, unilateral oboInOwl:hasDbXref UMLS:C0431691 semapv:UnspecifiedMatching @@ -55159,16 +55388,16 @@ Orphanet:97364 Bilateral multicystic dysplastic kidney oboInOwl:hasDbXref ICD10: Orphanet:97364 Bilateral multicystic dysplastic kidney oboInOwl:hasDbXref MESH:C537373 semapv:UnspecifiedMatching Orphanet:97364 Bilateral multicystic dysplastic kidney oboInOwl:hasDbXref UMLS:C1840451 semapv:UnspecifiedMatching Orphanet:97364 Bilateral multicystic dysplastic kidney oboInOwl:hasDbXref icd11:LB30.9 semapv:UnspecifiedMatching -Orphanet:97365 NON RARE IN EUROPE: Solitary renal cyst oboInOwl:hasDbXref ICD10:N28.1 semapv:UnspecifiedMatching -Orphanet:97365 NON RARE IN EUROPE: Solitary renal cyst oboInOwl:hasDbXref ICD10:N28.1 semapv:UnspecifiedMatching Orphanet:97366 Multiloculated renal cyst oboInOwl:hasDbXref ICD10:D30.0 semapv:UnspecifiedMatching Orphanet:97366 Multiloculated renal cyst oboInOwl:hasDbXref ICD10:D30.0 semapv:UnspecifiedMatching Orphanet:97366 Multiloculated renal cyst oboInOwl:hasDbXref UMLS:C0431719 semapv:UnspecifiedMatching Orphanet:97367 Renal tubular dysgenesis due to twin-twin transfusion oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching Orphanet:97367 Renal tubular dysgenesis due to twin-twin transfusion oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching +Orphanet:97367 Renal tubular dysgenesis due to twin-twin transfusion oboInOwl:hasDbXref UMLS:C5438872 semapv:UnspecifiedMatching Orphanet:97367 Renal tubular dysgenesis due to twin-twin transfusion oboInOwl:hasDbXref icd11:LB30.3 semapv:UnspecifiedMatching Orphanet:97368 Drug-related renal tubular dysgenesis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching Orphanet:97368 Drug-related renal tubular dysgenesis oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching +Orphanet:97368 Drug-related renal tubular dysgenesis oboInOwl:hasDbXref UMLS:C5438798 semapv:UnspecifiedMatching Orphanet:97368 Drug-related renal tubular dysgenesis oboInOwl:hasDbXref icd11:LB30.3 semapv:UnspecifiedMatching Orphanet:97369 Renal tubular dysgenesis of genetic origin oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching Orphanet:97369 Renal tubular dysgenesis of genetic origin oboInOwl:hasDbXref ICD10:Q63.8 semapv:UnspecifiedMatching @@ -55193,16 +55422,12 @@ Orphanet:97548 Right sided atrial isomerism oboInOwl:hasDbXref MedDRA:10068335 s Orphanet:97548 Right sided atrial isomerism oboInOwl:hasDbXref OMIM:208530 semapv:UnspecifiedMatching Orphanet:97548 Right sided atrial isomerism oboInOwl:hasDbXref UMLS:C3178806 semapv:UnspecifiedMatching Orphanet:97548 Right sided atrial isomerism oboInOwl:hasDbXref icd11:LA8Y semapv:UnspecifiedMatching -Orphanet:97552 Steroid-sensitive nephrotic syndrome without renal biopsy oboInOwl:hasDbXref ICD10:N04.0 semapv:UnspecifiedMatching -Orphanet:97552 Steroid-sensitive nephrotic syndrome without renal biopsy oboInOwl:hasDbXref ICD10:N04.0 semapv:UnspecifiedMatching Orphanet:97557 NON RARE IN EUROPE: Chronic proteinuria with focal and segmental hyalinosis oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching Orphanet:97557 NON RARE IN EUROPE: Chronic proteinuria with focal and segmental hyalinosis oboInOwl:hasDbXref ICD10:N04.1 semapv:UnspecifiedMatching Orphanet:97560 Primary membranous glomerulonephritis oboInOwl:hasDbXref ICD10:N04.2 semapv:UnspecifiedMatching Orphanet:97560 Primary membranous glomerulonephritis oboInOwl:hasDbXref ICD10:N04.2 semapv:UnspecifiedMatching Orphanet:97560 Primary membranous glomerulonephritis oboInOwl:hasDbXref OMIM:614692 semapv:UnspecifiedMatching Orphanet:97560 Primary membranous glomerulonephritis oboInOwl:hasDbXref UMLS:C0086445 semapv:UnspecifiedMatching -Orphanet:97562 NON RARE IN EUROPE: Benign familial hematuria oboInOwl:hasDbXref ICD10:N02 semapv:UnspecifiedMatching -Orphanet:97562 NON RARE IN EUROPE: Benign familial hematuria oboInOwl:hasDbXref ICD10:N02 semapv:UnspecifiedMatching Orphanet:97563 Pauci-immune glomerulonephritis with ANCA oboInOwl:hasDbXref ICD10:N05.7 semapv:UnspecifiedMatching Orphanet:97563 Pauci-immune glomerulonephritis with ANCA oboInOwl:hasDbXref ICD10:N05.7 semapv:UnspecifiedMatching Orphanet:97563 Pauci-immune glomerulonephritis with ANCA oboInOwl:hasDbXref UMLS:C5680254 semapv:UnspecifiedMatching @@ -55232,6 +55457,7 @@ Orphanet:97598 Congenital renal artery stenosis oboInOwl:hasDbXref icd11:LA90.40 Orphanet:976 Adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching Orphanet:976 Adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref ICD10:E79.8 semapv:UnspecifiedMatching Orphanet:976 Adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref MESH:C538228 semapv:UnspecifiedMatching +Orphanet:976 Adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref MedDRA:10072609 semapv:UnspecifiedMatching Orphanet:976 Adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref OMIM:614723 semapv:UnspecifiedMatching Orphanet:976 Adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref UMLS:C0268120 semapv:UnspecifiedMatching Orphanet:976 Adenine phosphoribosyltransferase deficiency oboInOwl:hasDbXref icd11:5C55.0Y semapv:UnspecifiedMatching @@ -55292,6 +55518,7 @@ Orphanet:98038 Cranial malformation oboInOwl:hasDbXref UMLS:C5681508 semapv:Unsp Orphanet:98039 Digestive tract malformation oboInOwl:hasDbXref UMLS:C5681507 semapv:UnspecifiedMatching Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen oboInOwl:hasDbXref UMLS:C5681509 semapv:UnspecifiedMatching Orphanet:98043 Diaphragmatic or abdominal wall malformation oboInOwl:hasDbXref UMLS:C5681505 semapv:UnspecifiedMatching +Orphanet:98044 Central nervous system malformation oboInOwl:hasDbXref UMLS:C1839543 semapv:UnspecifiedMatching Orphanet:98045 Respiratory or mediastinal malformation oboInOwl:hasDbXref UMLS:C5681506 semapv:UnspecifiedMatching Orphanet:98047 Rare infertility oboInOwl:hasDbXref UMLS:C5681511 semapv:UnspecifiedMatching Orphanet:98048 Rare male infertility oboInOwl:hasDbXref UMLS:C5681513 semapv:UnspecifiedMatching @@ -55328,11 +55555,14 @@ Orphanet:981 Internal carotid absence oboInOwl:hasDbXref icd11:LA90.4Y semapv:Un Orphanet:98127 Autosomal anomaly oboInOwl:hasDbXref UMLS:C5681496 semapv:UnspecifiedMatching Orphanet:98130 Autosomal trisomy oboInOwl:hasDbXref UMLS:C0041107 semapv:UnspecifiedMatching Orphanet:98131 Total autosomal trisomy oboInOwl:hasDbXref UMLS:C5681498 semapv:UnspecifiedMatching +Orphanet:98132 Partial autosomal duplication/triplication oboInOwl:hasDbXref UMLS:C5681499 semapv:UnspecifiedMatching Orphanet:98141 Total autosomal monosomy oboInOwl:hasDbXref UMLS:C5681502 semapv:UnspecifiedMatching Orphanet:98141 Total autosomal monosomy oboInOwl:hasDbXref icd11:LD43.0 semapv:UnspecifiedMatching -Orphanet:98142 Partial autosomal deletion oboInOwl:hasDbXref icd11:LD44 semapv:UnspecifiedMatching +Orphanet:98142 Partial autosomal deletion oboInOwl:hasDbXref icd11:LD44.Y semapv:UnspecifiedMatching Orphanet:98152 Autosomal uniparental disomy oboInOwl:hasDbXref UMLS:C5681500 semapv:UnspecifiedMatching +Orphanet:98153 Maternal uniparental disomy oboInOwl:hasDbXref UMLS:C4518512 semapv:UnspecifiedMatching Orphanet:98153 Maternal uniparental disomy oboInOwl:hasDbXref icd11:LD45.0 semapv:UnspecifiedMatching +Orphanet:98154 Paternal uniparental disomy oboInOwl:hasDbXref UMLS:C4518513 semapv:UnspecifiedMatching Orphanet:98154 Paternal uniparental disomy oboInOwl:hasDbXref icd11:LD45.1 semapv:UnspecifiedMatching Orphanet:98155 Sex-chromosome anomaly oboInOwl:hasDbXref MESH:D012729 semapv:UnspecifiedMatching Orphanet:98155 Sex-chromosome anomaly oboInOwl:hasDbXref UMLS:C0036868 semapv:UnspecifiedMatching @@ -55340,9 +55570,11 @@ Orphanet:98156 Sex-chromosome number anomaly oboInOwl:hasDbXref UMLS:C5680212 se Orphanet:98157 Sex-chromosome structural anomaly oboInOwl:hasDbXref UMLS:C5680213 semapv:UnspecifiedMatching Orphanet:98158 Chromosome Y structural anomaly oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching Orphanet:98158 Chromosome Y structural anomaly oboInOwl:hasDbXref ICD10:Q98.6 semapv:UnspecifiedMatching +Orphanet:98158 Chromosome Y structural anomaly oboInOwl:hasDbXref UMLS:C4736190 semapv:UnspecifiedMatching Orphanet:98158 Chromosome Y structural anomaly oboInOwl:hasDbXref icd11:LD53 semapv:UnspecifiedMatching Orphanet:98159 Chromosome X structural anomaly oboInOwl:hasDbXref UMLS:C5681501 semapv:UnspecifiedMatching Orphanet:98196 Malformation syndrome with hamartosis oboInOwl:hasDbXref UMLS:C5680230 semapv:UnspecifiedMatching +Orphanet:982 Pulmonary valve agenesis oboInOwl:hasDbXref UMLS:C0265831 semapv:UnspecifiedMatching Orphanet:98203 Combined dystonia oboInOwl:hasDbXref UMLS:C5680244 semapv:UnspecifiedMatching Orphanet:98249 Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching Orphanet:98249 Ehlers-Danlos syndrome oboInOwl:hasDbXref ICD10:Q79.6 semapv:UnspecifiedMatching @@ -55367,13 +55599,16 @@ Orphanet:98267 Genetic non-syndromic obesity oboInOwl:hasDbXref UMLS:C5680229 se Orphanet:98267 Genetic non-syndromic obesity oboInOwl:hasDbXref icd11:5B81.Y semapv:UnspecifiedMatching Orphanet:98274 Myeloproliferative neoplasm oboInOwl:hasDbXref MESH:D009196 semapv:UnspecifiedMatching Orphanet:98274 Myeloproliferative neoplasm oboInOwl:hasDbXref MedDRA:10028576 semapv:UnspecifiedMatching +Orphanet:98274 Myeloproliferative neoplasm oboInOwl:hasDbXref UMLS:C0027022 semapv:UnspecifiedMatching Orphanet:98275 Myelodysplastic/myeloproliferative disease oboInOwl:hasDbXref MESH:D054437 semapv:UnspecifiedMatching Orphanet:98275 Myelodysplastic/myeloproliferative disease oboInOwl:hasDbXref UMLS:C1301355 semapv:UnspecifiedMatching Orphanet:98277 Acute myeloid leukemia with recurrent genetic anomaly oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching Orphanet:98277 Acute myeloid leukemia with recurrent genetic anomaly oboInOwl:hasDbXref UMLS:C5680228 semapv:UnspecifiedMatching Orphanet:98277 Acute myeloid leukemia with recurrent genetic anomaly oboInOwl:hasDbXref icd11:2A60.0 semapv:UnspecifiedMatching Orphanet:98282 Plasma cell tumor oboInOwl:hasDbXref MESH:D054219 semapv:UnspecifiedMatching +Orphanet:98282 Plasma cell tumor oboInOwl:hasDbXref MedDRA:10035227 semapv:UnspecifiedMatching Orphanet:98282 Plasma cell tumor oboInOwl:hasDbXref UMLS:C1959632 semapv:UnspecifiedMatching +Orphanet:98287 Histiocytic and dendritic cell tumor oboInOwl:hasDbXref UMLS:C1334030 semapv:UnspecifiedMatching Orphanet:98288 Macrophage or histiocytic tumor oboInOwl:hasDbXref UMLS:C5681531 semapv:UnspecifiedMatching Orphanet:98289 Dendritic cell tumor oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching Orphanet:98289 Dendritic cell tumor oboInOwl:hasDbXref ICD10:C96.4 semapv:UnspecifiedMatching @@ -55387,6 +55622,7 @@ Orphanet:98292 Mastocytosis oboInOwl:hasDbXref OMIM:154800 semapv:UnspecifiedMat Orphanet:98292 Mastocytosis oboInOwl:hasDbXref UMLS:C0024899 semapv:UnspecifiedMatching Orphanet:98292 Mastocytosis oboInOwl:hasDbXref icd11:2A21 semapv:UnspecifiedMatching Orphanet:98293 Hodgkin lymphoma oboInOwl:hasDbXref MESH:D006689 semapv:UnspecifiedMatching +Orphanet:98293 Hodgkin lymphoma oboInOwl:hasDbXref MedDRA:10020206 semapv:UnspecifiedMatching Orphanet:98293 Hodgkin lymphoma oboInOwl:hasDbXref UMLS:C0019829 semapv:UnspecifiedMatching Orphanet:98293 Hodgkin lymphoma oboInOwl:hasDbXref icd11:2B30 semapv:UnspecifiedMatching Orphanet:983 Testicular regression syndrome oboInOwl:hasDbXref ICD10:Q55.0 semapv:UnspecifiedMatching @@ -55397,6 +55633,7 @@ Orphanet:983 Testicular regression syndrome oboInOwl:hasDbXref icd11:LD2A.Y sema Orphanet:98300 Idiopathic interstitial pneumonia oboInOwl:hasDbXref MESH:D054988 semapv:UnspecifiedMatching Orphanet:98300 Idiopathic interstitial pneumonia oboInOwl:hasDbXref UMLS:C2350236 semapv:UnspecifiedMatching Orphanet:98301 Laminopathy oboInOwl:hasDbXref MESH:D000083083 semapv:UnspecifiedMatching +Orphanet:98301 Laminopathy oboInOwl:hasDbXref UMLS:C5392094 semapv:UnspecifiedMatching Orphanet:98305 Genetic lipodystrophy oboInOwl:hasDbXref UMLS:C4511302 semapv:UnspecifiedMatching Orphanet:98305 Genetic lipodystrophy oboInOwl:hasDbXref icd11:LD27.6 semapv:UnspecifiedMatching Orphanet:98306 Familial partial lipodystrophy oboInOwl:hasDbXref MESH:D052496 semapv:UnspecifiedMatching @@ -55470,7 +55707,6 @@ Orphanet:98456 Dense granule disease oboInOwl:hasDbXref UMLS:C5680362 semapv:Uns Orphanet:98456 Dense granule disease oboInOwl:hasDbXref icd11:3B62.3 semapv:UnspecifiedMatching Orphanet:98472 Skeletal muscle disease oboInOwl:hasDbXref MESH:D009135 semapv:UnspecifiedMatching Orphanet:98472 Skeletal muscle disease oboInOwl:hasDbXref MedDRA:10028641 semapv:UnspecifiedMatching -Orphanet:98472 Skeletal muscle disease oboInOwl:hasDbXref UMLS:C1533847 semapv:UnspecifiedMatching Orphanet:98473 Muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:98473 Muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:98473 Muscular dystrophy oboInOwl:hasDbXref MESH:D009136 semapv:UnspecifiedMatching @@ -55499,6 +55735,7 @@ Orphanet:98506 Acquired motor neuron disease oboInOwl:hasDbXref UMLS:C5680367 se Orphanet:98514 Malformation of the cerebellar vermis oboInOwl:hasDbXref UMLS:C5681737 semapv:UnspecifiedMatching Orphanet:98516 Malformation of the cerebellar hemispheres oboInOwl:hasDbXref UMLS:C5681736 semapv:UnspecifiedMatching Orphanet:98518 Cranial nerve and nuclear aplasia oboInOwl:hasDbXref UMLS:C5681735 semapv:UnspecifiedMatching +Orphanet:98519 Posterior fossa malformation oboInOwl:hasDbXref UMLS:C1850349 semapv:UnspecifiedMatching Orphanet:98523 Non-syndromic pontocerebellar hypoplasia oboInOwl:hasDbXref icd11:LD20.01 semapv:UnspecifiedMatching Orphanet:98534 Neurodegenerative disease with dementia oboInOwl:hasDbXref UMLS:C5681723 semapv:UnspecifiedMatching Orphanet:98535 Frontotemporal degeneration with dementia oboInOwl:hasDbXref UMLS:C5681727 semapv:UnspecifiedMatching @@ -55515,6 +55752,7 @@ Orphanet:98553 Developmental defect of the eye oboInOwl:hasDbXref UMLS:C5681657 Orphanet:98555 Microphthalmia-anophthalmia-coloboma oboInOwl:hasDbXref UMLS:C5680330 semapv:UnspecifiedMatching Orphanet:98557 Syndromic aniridia oboInOwl:hasDbXref UMLS:C5681658 semapv:UnspecifiedMatching Orphanet:98560 Rare palpebral disorder oboInOwl:hasDbXref UMLS:C5681654 semapv:UnspecifiedMatching +Orphanet:98561 Congenital malformation of the eyelid oboInOwl:hasDbXref UMLS:C0266572 semapv:UnspecifiedMatching Orphanet:98562 Cryptophthalmia oboInOwl:hasDbXref MedDRA:10011497 semapv:UnspecifiedMatching Orphanet:98562 Cryptophthalmia oboInOwl:hasDbXref UMLS:C0311249 semapv:UnspecifiedMatching Orphanet:98562 Cryptophthalmia oboInOwl:hasDbXref icd11:LA14.01 semapv:UnspecifiedMatching @@ -55574,6 +55812,7 @@ Orphanet:98649 Dentocutaneous disease with cataract oboInOwl:hasDbXref UMLS:C568 Orphanet:98650 Craniofacial anomaly with cataract oboInOwl:hasDbXref UMLS:C5681662 semapv:UnspecifiedMatching Orphanet:98652 Lens size anomaly oboInOwl:hasDbXref UMLS:C5681661 semapv:UnspecifiedMatching Orphanet:98653 Lens position anomaly oboInOwl:hasDbXref UMLS:C5681660 semapv:UnspecifiedMatching +Orphanet:98655 Lens shape anomaly oboInOwl:hasDbXref UMLS:C0158553 semapv:UnspecifiedMatching Orphanet:98658 Color-vision disease oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching Orphanet:98658 Color-vision disease oboInOwl:hasDbXref ICD10:H53.5 semapv:UnspecifiedMatching Orphanet:98658 Color-vision disease oboInOwl:hasDbXref UMLS:C5681659 semapv:UnspecifiedMatching @@ -55599,8 +55838,6 @@ Orphanet:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref OMI Orphanet:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref UMLS:C5680331 semapv:UnspecifiedMatching Orphanet:98676 Autosomal recessive isolated optic atrophy oboInOwl:hasDbXref icd11:9C40.8 semapv:UnspecifiedMatching Orphanet:98681 Rare disorder with strabismus oboInOwl:hasDbXref UMLS:C5681695 semapv:UnspecifiedMatching -Orphanet:98682 NON RARE IN EUROPE: Essential strabismus oboInOwl:hasDbXref ICD10:H50.8 semapv:UnspecifiedMatching -Orphanet:98682 NON RARE IN EUROPE: Essential strabismus oboInOwl:hasDbXref ICD10:H50.8 semapv:UnspecifiedMatching Orphanet:98683 Syndromic disorder with strabismus oboInOwl:hasDbXref UMLS:C5680339 semapv:UnspecifiedMatching Orphanet:98684 Craniostenosis with strabismus oboInOwl:hasDbXref UMLS:C5681696 semapv:UnspecifiedMatching Orphanet:98685 Rare oculomotor nerve disorder oboInOwl:hasDbXref UMLS:C5681697 semapv:UnspecifiedMatching @@ -55642,6 +55879,7 @@ Orphanet:98723 Hypoplastic right heart syndrome oboInOwl:hasDbXref UMLS:C0344963 Orphanet:98724 Congenital anomaly of the great arteries oboInOwl:hasDbXref UMLS:C0948632 semapv:UnspecifiedMatching Orphanet:98725 Ascending aorta anomaly oboInOwl:hasDbXref UMLS:C0345043 semapv:UnspecifiedMatching Orphanet:98727 Rare atrial defect and interatrial communication oboInOwl:hasDbXref UMLS:C5680337 semapv:UnspecifiedMatching +Orphanet:98729 Congenital pulmonary veins anomaly oboInOwl:hasDbXref UMLS:C0265914 semapv:UnspecifiedMatching Orphanet:98731 Congenital arteriovenous fistula oboInOwl:hasDbXref MESH:D001164 semapv:UnspecifiedMatching Orphanet:98731 Congenital arteriovenous fistula oboInOwl:hasDbXref MedDRA:10003226 semapv:UnspecifiedMatching Orphanet:98731 Congenital arteriovenous fistula oboInOwl:hasDbXref UMLS:C0332965 semapv:UnspecifiedMatching @@ -55748,9 +55986,6 @@ Orphanet:98769 Spinocerebellar ataxia type 15/16 oboInOwl:hasDbXref ICD10:G11.2 Orphanet:98769 Spinocerebellar ataxia type 15/16 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching Orphanet:98769 Spinocerebellar ataxia type 15/16 oboInOwl:hasDbXref OMIM:606658 semapv:UnspecifiedMatching Orphanet:98769 Spinocerebellar ataxia type 15/16 oboInOwl:hasDbXref icd11:8A03.16 semapv:UnspecifiedMatching -Orphanet:98770 Spinocerebellar ataxia type 16 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -Orphanet:98770 Spinocerebellar ataxia type 16 oboInOwl:hasDbXref ICD10:G11.2 semapv:UnspecifiedMatching -Orphanet:98770 Spinocerebellar ataxia type 16 oboInOwl:hasDbXref OMIM:606658 semapv:UnspecifiedMatching Orphanet:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref ICD10:G11.8 semapv:UnspecifiedMatching Orphanet:98771 Spinocerebellar ataxia type 18 oboInOwl:hasDbXref MESH:C537197 semapv:UnspecifiedMatching @@ -55779,9 +56014,6 @@ Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDb Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref OMIM:615005 semapv:UnspecifiedMatching Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref UMLS:C3696898 semapv:UnspecifiedMatching Orphanet:98784 Autosomal dominant nocturnal frontal lobe epilepsy oboInOwl:hasDbXref icd11:8A61.4Y semapv:UnspecifiedMatching -Orphanet:98788 Pitt-Rogers-Danks syndrome oboInOwl:hasDbXref ICD10:Q93.3 semapv:UnspecifiedMatching -Orphanet:98788 Pitt-Rogers-Danks syndrome oboInOwl:hasDbXref ICD10:Q93.3 semapv:UnspecifiedMatching -Orphanet:98788 Pitt-Rogers-Danks syndrome oboInOwl:hasDbXref OMIM:194190 semapv:UnspecifiedMatching Orphanet:98788 Pitt-Rogers-Danks syndrome oboInOwl:hasDbXref UMLS:C0796117 semapv:UnspecifiedMatching Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching Orphanet:98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 oboInOwl:hasDbXref ICD10:D56.0 semapv:UnspecifiedMatching @@ -55795,6 +56027,7 @@ Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion oboInOwl: Orphanet:98793 Prader-Willi syndrome due to paternal 15q11q13 deletion oboInOwl:hasDbXref icd11:LD90.3 semapv:UnspecifiedMatching Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching +Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion oboInOwl:hasDbXref UMLS:C5566334 semapv:UnspecifiedMatching Orphanet:98794 Angelman syndrome due to maternal 15q11q13 deletion oboInOwl:hasDbXref icd11:LD90.0 semapv:UnspecifiedMatching Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 oboInOwl:hasDbXref ICD10:Q93.5 semapv:UnspecifiedMatching @@ -55853,8 +56086,6 @@ Orphanet:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref MESH:C5 Orphanet:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref OMIM:612126 semapv:UnspecifiedMatching Orphanet:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref UMLS:C1842534 semapv:UnspecifiedMatching Orphanet:98811 Paroxysmal exertion-induced dyskinesia oboInOwl:hasDbXref icd11:8A02.2 semapv:UnspecifiedMatching -Orphanet:98812 Paroxysmal hypnogenic dyskinesia oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching -Orphanet:98812 Paroxysmal hypnogenic dyskinesia oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching Orphanet:98812 Paroxysmal hypnogenic dyskinesia oboInOwl:hasDbXref UMLS:C0393777 semapv:UnspecifiedMatching Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref ICD10:D82.8 semapv:UnspecifiedMatching @@ -55862,11 +56093,14 @@ Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl: Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref OMIM:300291 semapv:UnspecifiedMatching Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref OMIM:612132 semapv:UnspecifiedMatching Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref UMLS:C1846006 semapv:UnspecifiedMatching +Orphanet:98813 Hypohidrotic ectodermal dysplasia with immunodeficiency oboInOwl:hasDbXref icd11:LD27.02 semapv:UnspecifiedMatching Orphanet:98815 Benign childhood occipital epilepsy, Panayiotopoulos type oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching Orphanet:98815 Benign childhood occipital epilepsy, Panayiotopoulos type oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:98815 Benign childhood occipital epilepsy, Panayiotopoulos type oboInOwl:hasDbXref UMLS:C0393676 semapv:UnspecifiedMatching Orphanet:98815 Benign childhood occipital epilepsy, Panayiotopoulos type oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching Orphanet:98816 Benign childhood occipital epilepsy, Gastaut type oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching Orphanet:98816 Benign childhood occipital epilepsy, Gastaut type oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching +Orphanet:98816 Benign childhood occipital epilepsy, Gastaut type oboInOwl:hasDbXref UMLS:C0393677 semapv:UnspecifiedMatching Orphanet:98816 Benign childhood occipital epilepsy, Gastaut type oboInOwl:hasDbXref icd11:8A61.2Y semapv:UnspecifiedMatching Orphanet:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref ICD10:F80.3 semapv:UnspecifiedMatching Orphanet:98818 Landau-Kleffner syndrome oboInOwl:hasDbXref ICD10:F80.3 semapv:UnspecifiedMatching @@ -55905,18 +56139,18 @@ Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease oboInOwl: Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease oboInOwl:hasDbXref ICD10:C94.6 semapv:UnspecifiedMatching Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease oboInOwl:hasDbXref UMLS:C1328061 semapv:UnspecifiedMatching Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease oboInOwl:hasDbXref icd11:2A44 semapv:UnspecifiedMatching -Orphanet:98826 Refractory anemia oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching -Orphanet:98826 Refractory anemia oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching -Orphanet:98826 Refractory anemia oboInOwl:hasDbXref MESH:D000753 semapv:UnspecifiedMatching -Orphanet:98826 Refractory anemia oboInOwl:hasDbXref MedDRA:10038269 semapv:UnspecifiedMatching -Orphanet:98826 Refractory anemia oboInOwl:hasDbXref UMLS:C0002893 semapv:UnspecifiedMatching -Orphanet:98826 Refractory anemia oboInOwl:hasDbXref icd11:2A30 semapv:UnspecifiedMatching +Orphanet:98826 Myelodysplastic neoplasm with low blasts oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching +Orphanet:98826 Myelodysplastic neoplasm with low blasts oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching +Orphanet:98826 Myelodysplastic neoplasm with low blasts oboInOwl:hasDbXref MESH:D000753 semapv:UnspecifiedMatching +Orphanet:98826 Myelodysplastic neoplasm with low blasts oboInOwl:hasDbXref MedDRA:10038269 semapv:UnspecifiedMatching +Orphanet:98826 Myelodysplastic neoplasm with low blasts oboInOwl:hasDbXref UMLS:C0002893 semapv:UnspecifiedMatching +Orphanet:98826 Myelodysplastic neoplasm with low blasts oboInOwl:hasDbXref icd11:2A30 semapv:UnspecifiedMatching Orphanet:98827 Unclassified myelodysplastic syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching Orphanet:98827 Unclassified myelodysplastic syndrome oboInOwl:hasDbXref ICD10:D46.7 semapv:UnspecifiedMatching Orphanet:98827 Unclassified myelodysplastic syndrome oboInOwl:hasDbXref UMLS:C5681636 semapv:UnspecifiedMatching Orphanet:98827 Unclassified myelodysplastic syndrome oboInOwl:hasDbXref icd11:2A37 semapv:UnspecifiedMatching -Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oboInOwl:hasDbXref ICD10:C92.5 semapv:UnspecifiedMatching -Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oboInOwl:hasDbXref ICD10:C92.5 semapv:UnspecifiedMatching +Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oboInOwl:hasDbXref ICD10:C92.7 semapv:UnspecifiedMatching +Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oboInOwl:hasDbXref ICD10:C92.7 semapv:UnspecifiedMatching Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oboInOwl:hasDbXref UMLS:C5395080 semapv:UnspecifiedMatching Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) oboInOwl:hasDbXref icd11:2A60.0 semapv:UnspecifiedMatching Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities oboInOwl:hasDbXref ICD10:C92.6 semapv:UnspecifiedMatching @@ -55943,10 +56177,6 @@ Orphanet:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref MedDRA:1004551 Orphanet:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref OMIM:601626 semapv:UnspecifiedMatching Orphanet:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref UMLS:C0280141 semapv:UnspecifiedMatching Orphanet:98835 Acute undifferentiated leukemia oboInOwl:hasDbXref icd11:2A60.30 semapv:UnspecifiedMatching -Orphanet:98836 Bilineal acute leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching -Orphanet:98836 Bilineal acute leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching -Orphanet:98837 Acute biphenotypic leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching -Orphanet:98837 Acute biphenotypic leukemia oboInOwl:hasDbXref ICD10:C95.0 semapv:UnspecifiedMatching Orphanet:98838 Primary mediastinal large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching Orphanet:98838 Primary mediastinal large B-cell lymphoma oboInOwl:hasDbXref ICD10:C83.3 semapv:UnspecifiedMatching Orphanet:98838 Primary mediastinal large B-cell lymphoma oboInOwl:hasDbXref MedDRA:10036710 semapv:UnspecifiedMatching @@ -56038,9 +56268,6 @@ Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref MESH:C537 Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref OMIM:605588 semapv:UnspecifiedMatching Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref UMLS:C1854154 semapv:UnspecifiedMatching Orphanet:98856 Charcot-Marie-Tooth disease type 2B1 oboInOwl:hasDbXref icd11:8C20.1 semapv:UnspecifiedMatching -Orphanet:98861 Primary ciliary dyskinesia, Kartagener type oboInOwl:hasDbXref ICD10:Q34.8 semapv:UnspecifiedMatching -Orphanet:98861 Primary ciliary dyskinesia, Kartagener type oboInOwl:hasDbXref ICD10:Q34.8 semapv:UnspecifiedMatching -Orphanet:98861 Primary ciliary dyskinesia, Kartagener type oboInOwl:hasDbXref OMIM:244400 semapv:UnspecifiedMatching Orphanet:98861 Primary ciliary dyskinesia, Kartagener type oboInOwl:hasDbXref UMLS:C0022521 semapv:UnspecifiedMatching Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching @@ -56049,12 +56276,6 @@ Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMI Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref OMIM:310300 semapv:UnspecifiedMatching Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref UMLS:C0751337 semapv:UnspecifiedMatching Orphanet:98863 X-linked Emery-Dreifuss muscular dystrophy oboInOwl:hasDbXref icd11:8C70.2 semapv:UnspecifiedMatching -Orphanet:98864 Common hereditary elliptocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching -Orphanet:98864 Common hereditary elliptocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching -Orphanet:98865 Homozygous hereditary elliptocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching -Orphanet:98865 Homozygous hereditary elliptocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching -Orphanet:98867 Hereditary pyropoikilocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching -Orphanet:98867 Hereditary pyropoikilocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching Orphanet:98867 Hereditary pyropoikilocytosis oboInOwl:hasDbXref OMIM:266140 semapv:UnspecifiedMatching Orphanet:98867 Hereditary pyropoikilocytosis oboInOwl:hasDbXref UMLS:C0520739 semapv:UnspecifiedMatching Orphanet:98868 Southeast Asian ovalocytosis oboInOwl:hasDbXref ICD10:D58.1 semapv:UnspecifiedMatching @@ -56116,6 +56337,7 @@ Orphanet:98881 Familial dysfibrinogenemia oboInOwl:hasDbXref icd11:3B14.0 semapv Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency oboInOwl:hasDbXref OMIM:614201 semapv:UnspecifiedMatching +Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency oboInOwl:hasDbXref UMLS:C3280120 semapv:UnspecifiedMatching Orphanet:98885 Bleeding diathesis due to glycoprotein VI deficiency oboInOwl:hasDbXref icd11:3B62.Y semapv:UnspecifiedMatching Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching Orphanet:98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency oboInOwl:hasDbXref ICD10:D69.8 semapv:UnspecifiedMatching @@ -56154,9 +56376,6 @@ Orphanet:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref MESH:C56 Orphanet:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref OMIM:604801 semapv:UnspecifiedMatching Orphanet:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref UMLS:C1858118 semapv:UnspecifiedMatching Orphanet:98893 Congenital muscular dystrophy type 1B oboInOwl:hasDbXref icd11:8C70.6 semapv:UnspecifiedMatching -Orphanet:98894 Congenital muscular dystrophy type 1D oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -Orphanet:98894 Congenital muscular dystrophy type 1D oboInOwl:hasDbXref ICD10:G71.2 semapv:UnspecifiedMatching -Orphanet:98894 Congenital muscular dystrophy type 1D oboInOwl:hasDbXref OMIM:608840 semapv:UnspecifiedMatching Orphanet:98894 Congenital muscular dystrophy type 1D oboInOwl:hasDbXref UMLS:C1837229 semapv:UnspecifiedMatching Orphanet:98895 Becker muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching Orphanet:98895 Becker muscular dystrophy oboInOwl:hasDbXref ICD10:G71.0 semapv:UnspecifiedMatching @@ -56209,12 +56428,12 @@ Orphanet:98907 Neutral lipid storage disease with ichthyosis oboInOwl:hasDbXref Orphanet:98907 Neutral lipid storage disease with ichthyosis oboInOwl:hasDbXref OMIM:275630 semapv:UnspecifiedMatching Orphanet:98907 Neutral lipid storage disease with ichthyosis oboInOwl:hasDbXref UMLS:C0268238 semapv:UnspecifiedMatching Orphanet:98907 Neutral lipid storage disease with ichthyosis oboInOwl:hasDbXref icd11:5C52.2 semapv:UnspecifiedMatching -Orphanet:98908 Neutral lipid storage myopathy oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching -Orphanet:98908 Neutral lipid storage myopathy oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching -Orphanet:98908 Neutral lipid storage myopathy oboInOwl:hasDbXref MESH:C565192 semapv:UnspecifiedMatching -Orphanet:98908 Neutral lipid storage myopathy oboInOwl:hasDbXref OMIM:610717 semapv:UnspecifiedMatching -Orphanet:98908 Neutral lipid storage myopathy oboInOwl:hasDbXref UMLS:C1853136 semapv:UnspecifiedMatching -Orphanet:98908 Neutral lipid storage myopathy oboInOwl:hasDbXref icd11:5C52.2 semapv:UnspecifiedMatching +Orphanet:98908 Neutral lipid storage disease with myopathy oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching +Orphanet:98908 Neutral lipid storage disease with myopathy oboInOwl:hasDbXref ICD10:E75.5 semapv:UnspecifiedMatching +Orphanet:98908 Neutral lipid storage disease with myopathy oboInOwl:hasDbXref MESH:C565192 semapv:UnspecifiedMatching +Orphanet:98908 Neutral lipid storage disease with myopathy oboInOwl:hasDbXref OMIM:610717 semapv:UnspecifiedMatching +Orphanet:98908 Neutral lipid storage disease with myopathy oboInOwl:hasDbXref UMLS:C1853136 semapv:UnspecifiedMatching +Orphanet:98908 Neutral lipid storage disease with myopathy oboInOwl:hasDbXref icd11:5C52.2 semapv:UnspecifiedMatching Orphanet:98909 Desminopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching Orphanet:98909 Desminopathy oboInOwl:hasDbXref ICD10:G71.8 semapv:UnspecifiedMatching Orphanet:98909 Desminopathy oboInOwl:hasDbXref MESH:C563319 semapv:UnspecifiedMatching @@ -56250,6 +56469,7 @@ Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref O Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616325 semapv:UnspecifiedMatching Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616326 semapv:UnspecifiedMatching Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref OMIM:616720 semapv:UnspecifiedMatching +Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref UMLS:C0751883 semapv:UnspecifiedMatching Orphanet:98913 Postsynaptic congenital myasthenic syndromes oboInOwl:hasDbXref icd11:8C61 semapv:UnspecifiedMatching Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching Orphanet:98914 Presynaptic congenital myasthenic syndromes oboInOwl:hasDbXref ICD10:G70.2 semapv:UnspecifiedMatching @@ -56342,7 +56562,6 @@ Orphanet:98944 Coloboma of iris oboInOwl:hasDbXref icd11:LA11.4 semapv:Unspecifi Orphanet:98945 Coloboma of macula oboInOwl:hasDbXref ICD10:Q14.8 semapv:UnspecifiedMatching Orphanet:98945 Coloboma of macula oboInOwl:hasDbXref ICD10:Q14.8 semapv:UnspecifiedMatching Orphanet:98945 Coloboma of macula oboInOwl:hasDbXref MESH:C535968 semapv:UnspecifiedMatching -Orphanet:98945 Coloboma of macula oboInOwl:hasDbXref OMIM:120300 semapv:UnspecifiedMatching Orphanet:98945 Coloboma of macula oboInOwl:hasDbXref UMLS:C1852767 semapv:UnspecifiedMatching Orphanet:98945 Coloboma of macula oboInOwl:hasDbXref icd11:LA13.2 semapv:UnspecifiedMatching Orphanet:98946 Coloboma of eyelid oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching @@ -56359,7 +56578,7 @@ Orphanet:98948 Congenital symblepharon oboInOwl:hasDbXref UMLS:C0152454 semapv:U Orphanet:98948 Congenital symblepharon oboInOwl:hasDbXref icd11:LA14.01 semapv:UnspecifiedMatching Orphanet:98949 Complete cryptophthalmia oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:98949 Complete cryptophthalmia oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching -Orphanet:98949 Complete cryptophthalmia oboInOwl:hasDbXref OMIM:123570 semapv:UnspecifiedMatching +Orphanet:98949 Complete cryptophthalmia oboInOwl:hasDbXref UMLS:C5437887 semapv:UnspecifiedMatching Orphanet:98949 Complete cryptophthalmia oboInOwl:hasDbXref icd11:LA14.01 semapv:UnspecifiedMatching Orphanet:98950 Partial cryptophthalmia oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching Orphanet:98950 Partial cryptophthalmia oboInOwl:hasDbXref ICD10:Q11.2 semapv:UnspecifiedMatching @@ -56379,7 +56598,7 @@ Orphanet:98954 Meesmann corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref MESH:C567588 semapv:UnspecifiedMatching -Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref OMIM:300778 semapv:UnspecifiedMatching +Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref OMIM:620763 semapv:UnspecifiedMatching Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref UMLS:C2749050 semapv:UnspecifiedMatching Orphanet:98955 Lisch epithelial corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching Orphanet:98956 Epithelial basement membrane dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching @@ -56441,8 +56660,6 @@ Orphanet:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref MESH:C535475 semapv Orphanet:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref OMIM:121800 semapv:UnspecifiedMatching Orphanet:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref UMLS:C0271287 semapv:UnspecifiedMatching Orphanet:98967 Schnyder corneal dystrophy oboInOwl:hasDbXref icd11:9A70.Y semapv:UnspecifiedMatching -Orphanet:98968 Central discoid corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching -Orphanet:98968 Central discoid corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98969 Macular corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98969 Macular corneal dystrophy oboInOwl:hasDbXref ICD10:H18.5 semapv:UnspecifiedMatching Orphanet:98969 Macular corneal dystrophy oboInOwl:hasDbXref MedDRA:10025406 semapv:UnspecifiedMatching @@ -56682,8 +56899,6 @@ Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis oboInOwl:hasDbXref ICD10:Q21.3 semapv:UnspecifiedMatching Orphanet:99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis oboInOwl:hasDbXref ICD10:Q21.3 semapv:UnspecifiedMatching -Orphanet:99044 Double outlet right ventricle with subaortic ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching -Orphanet:99044 Double outlet right ventricle with subaortic ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching Orphanet:99044 Double outlet right ventricle with subaortic ventricular septal defect oboInOwl:hasDbXref UMLS:C1956411 semapv:UnspecifiedMatching Orphanet:99045 Double outlet right ventricle with subpulmonary ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching Orphanet:99045 Double outlet right ventricle with subpulmonary ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching @@ -56692,8 +56907,6 @@ Orphanet:99045 Double outlet right ventricle with subpulmonary ventricular septa Orphanet:99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching Orphanet:99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching Orphanet:99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect oboInOwl:hasDbXref icd11:LA85.21 semapv:UnspecifiedMatching -Orphanet:99047 Double outlet right ventricle with doubly committed ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching -Orphanet:99047 Double outlet right ventricle with doubly committed ventricular septal defect oboInOwl:hasDbXref ICD10:Q20.1 semapv:UnspecifiedMatching Orphanet:99047 Double outlet right ventricle with doubly committed ventricular septal defect oboInOwl:hasDbXref UMLS:C0344644 semapv:UnspecifiedMatching Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome oboInOwl:hasDbXref ICD10:Q22.2 semapv:UnspecifiedMatching Orphanet:99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome oboInOwl:hasDbXref ICD10:Q22.2 semapv:UnspecifiedMatching @@ -56767,6 +56980,7 @@ Orphanet:99067 Complete atrioventricular septal defect with ventricular hypoplas Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot oboInOwl:hasDbXref ICD10:Q21.2 semapv:UnspecifiedMatching Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot oboInOwl:hasDbXref OMIM:615779 semapv:UnspecifiedMatching +Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot oboInOwl:hasDbXref UMLS:C3640086 semapv:UnspecifiedMatching Orphanet:99068 Complete atrioventricular septal defect-tetralogy of Fallot oboInOwl:hasDbXref icd11:LA87.45 semapv:UnspecifiedMatching Orphanet:99070 Aorto-right ventricular tunnel oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching Orphanet:99070 Aorto-right ventricular tunnel oboInOwl:hasDbXref ICD10:Q20.8 semapv:UnspecifiedMatching @@ -56790,6 +57004,7 @@ Orphanet:99076 Persistent fifth aortic arch oboInOwl:hasDbXref UMLS:C0345066 sem Orphanet:99076 Persistent fifth aortic arch oboInOwl:hasDbXref icd11:LA8B.2Y semapv:UnspecifiedMatching Orphanet:99077 Kommerell diverticulum oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching Orphanet:99077 Kommerell diverticulum oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching +Orphanet:99077 Kommerell diverticulum oboInOwl:hasDbXref MedDRA:10081282 semapv:UnspecifiedMatching Orphanet:99077 Kommerell diverticulum oboInOwl:hasDbXref UMLS:C0265885 semapv:UnspecifiedMatching Orphanet:99077 Kommerell diverticulum oboInOwl:hasDbXref icd11:LA8B.2Y semapv:UnspecifiedMatching Orphanet:99078 Neuhauser anomaly oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching @@ -56806,6 +57021,7 @@ Orphanet:99081 Right aortic arch oboInOwl:hasDbXref UMLS:C0035615 semapv:Unspeci Orphanet:99081 Right aortic arch oboInOwl:hasDbXref icd11:LA8B.2Y semapv:UnspecifiedMatching Orphanet:99082 Dysphagia lusoria oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching Orphanet:99082 Dysphagia lusoria oboInOwl:hasDbXref ICD10:Q25.4 semapv:UnspecifiedMatching +Orphanet:99082 Dysphagia lusoria oboInOwl:hasDbXref MedDRA:10079869 semapv:UnspecifiedMatching Orphanet:99082 Dysphagia lusoria oboInOwl:hasDbXref UMLS:C0267073 semapv:UnspecifiedMatching Orphanet:99083 Pulmonary artery hypoplasia oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching Orphanet:99083 Pulmonary artery hypoplasia oboInOwl:hasDbXref ICD10:Q25.7 semapv:UnspecifiedMatching @@ -56814,6 +57030,7 @@ Orphanet:99083 Pulmonary artery hypoplasia oboInOwl:hasDbXref icd11:LA8B.1 semap Orphanet:99084 Peripheral pulmonary stenosis oboInOwl:hasDbXref ICD10:Q25.6 semapv:UnspecifiedMatching Orphanet:99084 Peripheral pulmonary stenosis oboInOwl:hasDbXref ICD10:Q25.6 semapv:UnspecifiedMatching Orphanet:99084 Peripheral pulmonary stenosis oboInOwl:hasDbXref UMLS:C3531782 semapv:UnspecifiedMatching +Orphanet:99084 Peripheral pulmonary stenosis oboInOwl:hasDbXref icd11:LA8B.1 semapv:UnspecifiedMatching Orphanet:99087 Coronary ostial stenosis or atresia oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching Orphanet:99087 Coronary ostial stenosis or atresia oboInOwl:hasDbXref ICD10:Q24.5 semapv:UnspecifiedMatching Orphanet:99087 Coronary ostial stenosis or atresia oboInOwl:hasDbXref UMLS:C5575847 semapv:UnspecifiedMatching @@ -56883,8 +57100,6 @@ Orphanet:99107 Atrial septal aneurysm oboInOwl:hasDbXref ICD10:Q21.1 semapv:Unsp Orphanet:99107 Atrial septal aneurysm oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching Orphanet:99107 Atrial septal aneurysm oboInOwl:hasDbXref UMLS:C0521533 semapv:UnspecifiedMatching Orphanet:99107 Atrial septal aneurysm oboInOwl:hasDbXref icd11:LA8E.Y semapv:UnspecifiedMatching -Orphanet:99108 NON RARE IN EUROPE: Patent foramen ovale oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching -Orphanet:99108 NON RARE IN EUROPE: Patent foramen ovale oboInOwl:hasDbXref ICD10:Q21.1 semapv:UnspecifiedMatching Orphanet:99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium oboInOwl:hasDbXref ICD10:Q26.1 semapv:UnspecifiedMatching Orphanet:99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium oboInOwl:hasDbXref ICD10:Q26.1 semapv:UnspecifiedMatching Orphanet:99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium oboInOwl:hasDbXref UMLS:C5680293 semapv:UnspecifiedMatching @@ -56935,9 +57150,12 @@ Orphanet:99124 Congenital partial pulmonary venous return anomaly oboInOwl:hasDb Orphanet:99124 Congenital partial pulmonary venous return anomaly oboInOwl:hasDbXref icd11:LA86.21 semapv:UnspecifiedMatching Orphanet:99125 Congenital total pulmonary venous return anomaly oboInOwl:hasDbXref ICD10:Q26.2 semapv:UnspecifiedMatching Orphanet:99125 Congenital total pulmonary venous return anomaly oboInOwl:hasDbXref ICD10:Q26.2 semapv:UnspecifiedMatching +Orphanet:99125 Congenital total pulmonary venous return anomaly oboInOwl:hasDbXref MESH:D012587 semapv:UnspecifiedMatching Orphanet:99125 Congenital total pulmonary venous return anomaly oboInOwl:hasDbXref OMIM:106700 semapv:UnspecifiedMatching Orphanet:99125 Congenital total pulmonary venous return anomaly oboInOwl:hasDbXref UMLS:C5681626 semapv:UnspecifiedMatching Orphanet:99125 Congenital total pulmonary venous return anomaly oboInOwl:hasDbXref icd11:LA86.20 semapv:UnspecifiedMatching +Orphanet:99126 Congenital pulmonary vein atresia oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching +Orphanet:99126 Congenital pulmonary vein atresia oboInOwl:hasDbXref ICD10:Q26.8 semapv:UnspecifiedMatching Orphanet:99126 Congenital pulmonary vein atresia oboInOwl:hasDbXref icd11:LA86.Y semapv:UnspecifiedMatching Orphanet:99129 Congenital complete agenesis of pericardium oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching Orphanet:99129 Congenital complete agenesis of pericardium oboInOwl:hasDbXref ICD10:Q24.8 semapv:UnspecifiedMatching @@ -56968,17 +57186,11 @@ Orphanet:99141 Lymphedema-posterior choanal atresia syndrome oboInOwl:hasDbXref Orphanet:99141 Lymphedema-posterior choanal atresia syndrome oboInOwl:hasDbXref ICD10:Q82.0 semapv:UnspecifiedMatching Orphanet:99141 Lymphedema-posterior choanal atresia syndrome oboInOwl:hasDbXref OMIM:613611 semapv:UnspecifiedMatching Orphanet:99141 Lymphedema-posterior choanal atresia syndrome oboInOwl:hasDbXref UMLS:C3150875 semapv:UnspecifiedMatching -Orphanet:99142 Microcephaly-cutis verticis gyrata-lymphedema syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching -Orphanet:99142 Microcephaly-cutis verticis gyrata-lymphedema syndrome oboInOwl:hasDbXref ICD10:Q87.8 semapv:UnspecifiedMatching Orphanet:99147 Acquired von Willebrand syndrome oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching Orphanet:99147 Acquired von Willebrand syndrome oboInOwl:hasDbXref ICD10:D68.4 semapv:UnspecifiedMatching Orphanet:99147 Acquired von Willebrand syndrome oboInOwl:hasDbXref MedDRA:10069495 semapv:UnspecifiedMatching Orphanet:99147 Acquired von Willebrand syndrome oboInOwl:hasDbXref UMLS:C0272362 semapv:UnspecifiedMatching Orphanet:99147 Acquired von Willebrand syndrome oboInOwl:hasDbXref icd11:3B2Y semapv:UnspecifiedMatching -Orphanet:99151 NON RARE IN EUROPE: Hippocampal tauopathy in cerebral aging oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -Orphanet:99151 NON RARE IN EUROPE: Hippocampal tauopathy in cerebral aging oboInOwl:hasDbXref ICD10:G31.8 semapv:UnspecifiedMatching -Orphanet:99166 NON RARE IN EUROPE: Familial combined hyperlipoproteinemia oboInOwl:hasDbXref ICD10:E78.5 semapv:UnspecifiedMatching -Orphanet:99166 NON RARE IN EUROPE: Familial combined hyperlipoproteinemia oboInOwl:hasDbXref ICD10:E78.5 semapv:UnspecifiedMatching Orphanet:99169 Epiblepharon oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:99169 Epiblepharon oboInOwl:hasDbXref ICD10:Q10.3 semapv:UnspecifiedMatching Orphanet:99169 Epiblepharon oboInOwl:hasDbXref MedDRA:10056531 semapv:UnspecifiedMatching @@ -57070,40 +57282,19 @@ Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type oboInOwl:hasDbXr Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type oboInOwl:hasDbXref OMIM:613343 semapv:UnspecifiedMatching Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type oboInOwl:hasDbXref UMLS:C3150545 semapv:UnspecifiedMatching Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type oboInOwl:hasDbXref icd11:LD24.3 semapv:UnspecifiedMatching -Orphanet:99645 Dappled diaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching -Orphanet:99645 Dappled diaphyseal dysplasia oboInOwl:hasDbXref ICD10:Q77.3 semapv:UnspecifiedMatching Orphanet:99645 Dappled diaphyseal dysplasia oboInOwl:hasDbXref UMLS:C1300227 semapv:UnspecifiedMatching Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref OMIM:614875 semapv:UnspecifiedMatching Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref UMLS:C3553958 semapv:UnspecifiedMatching Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching -Orphanet:99647 Cheirospondyloenchondromatosis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching -Orphanet:99647 Cheirospondyloenchondromatosis oboInOwl:hasDbXref ICD10:Q78.8 semapv:UnspecifiedMatching Orphanet:99647 Cheirospondyloenchondromatosis oboInOwl:hasDbXref UMLS:C4510810 semapv:UnspecifiedMatching -Orphanet:99647 Cheirospondyloenchondromatosis oboInOwl:hasDbXref icd11:LD24.2Y semapv:UnspecifiedMatching Orphanet:99657 Primary dystonia, DYT2 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching Orphanet:99657 Primary dystonia, DYT2 type oboInOwl:hasDbXref ICD10:G24.1 semapv:UnspecifiedMatching Orphanet:99657 Primary dystonia, DYT2 type oboInOwl:hasDbXref MESH:C538006 semapv:UnspecifiedMatching Orphanet:99657 Primary dystonia, DYT2 type oboInOwl:hasDbXref OMIM:224500 semapv:UnspecifiedMatching Orphanet:99657 Primary dystonia, DYT2 type oboInOwl:hasDbXref UMLS:C1857093 semapv:UnspecifiedMatching Orphanet:99657 Primary dystonia, DYT2 type oboInOwl:hasDbXref icd11:8A02.0Y semapv:UnspecifiedMatching -Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.0 semapv:UnspecifiedMatching -Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.0 semapv:UnspecifiedMatching -Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.1 semapv:UnspecifiedMatching -Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.1 semapv:UnspecifiedMatching -Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.2 semapv:UnspecifiedMatching -Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.2 semapv:UnspecifiedMatching -Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.3 semapv:UnspecifiedMatching -Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.3 semapv:UnspecifiedMatching -Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.4 semapv:UnspecifiedMatching -Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.4 semapv:UnspecifiedMatching -Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.5 semapv:UnspecifiedMatching -Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.5 semapv:UnspecifiedMatching -Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.6 semapv:UnspecifiedMatching -Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.6 semapv:UnspecifiedMatching -Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.7 semapv:UnspecifiedMatching -Orphanet:99665 NON RARE IN EUROPE: Ventral hernia oboInOwl:hasDbXref ICD10:K43.7 semapv:UnspecifiedMatching Orphanet:99672 Fried's tooth and nail syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:99672 Fried's tooth and nail syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:99672 Fried's tooth and nail syndrome oboInOwl:hasDbXref OMIM:602401 semapv:UnspecifiedMatching @@ -57111,8 +57302,6 @@ Orphanet:99672 Fried's tooth and nail syndrome oboInOwl:hasDbXref UMLS:C0406715 Orphanet:99688 Dermotrichic syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:99688 Dermotrichic syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:99688 Dermotrichic syndrome oboInOwl:hasDbXref UMLS:C0795919 semapv:UnspecifiedMatching -Orphanet:99694 Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching -Orphanet:99694 Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome oboInOwl:hasDbXref ICD10:Q82.4 semapv:UnspecifiedMatching Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis oboInOwl:hasDbXref ICD10:G40.0 semapv:UnspecifiedMatching Orphanet:99701 Mesial temporal lobe epilepsy with hippocampal sclerosis oboInOwl:hasDbXref UMLS:C4749367 semapv:UnspecifiedMatching @@ -57122,8 +57311,6 @@ Orphanet:99704 Early-onset obesity-hyperphagia-severe developmental delay syndro Orphanet:99710 Punctate acrokeratoderma freckle-like pigmentation oboInOwl:hasDbXref ICD10:L85.8 semapv:UnspecifiedMatching Orphanet:99710 Punctate acrokeratoderma freckle-like pigmentation oboInOwl:hasDbXref ICD10:L85.8 semapv:UnspecifiedMatching Orphanet:99710 Punctate acrokeratoderma freckle-like pigmentation oboInOwl:hasDbXref UMLS:C5681635 semapv:UnspecifiedMatching -Orphanet:99715 MASS syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching -Orphanet:99715 MASS syndrome oboInOwl:hasDbXref ICD10:Q87.4 semapv:UnspecifiedMatching Orphanet:99715 MASS syndrome oboInOwl:hasDbXref MESH:C536030 semapv:UnspecifiedMatching Orphanet:99715 MASS syndrome oboInOwl:hasDbXref OMIM:604308 semapv:UnspecifiedMatching Orphanet:99718 Leber plus disease oboInOwl:hasDbXref ICD10:H47.2 semapv:UnspecifiedMatching @@ -57229,10 +57416,8 @@ Orphanet:99776 Mosaic trisomy 9 oboInOwl:hasDbXref ICD10:Q92.1 semapv:Unspecifie Orphanet:99776 Mosaic trisomy 9 oboInOwl:hasDbXref ICD10:Q92.1 semapv:UnspecifiedMatching Orphanet:99776 Mosaic trisomy 9 oboInOwl:hasDbXref MESH:C535454 semapv:UnspecifiedMatching Orphanet:99776 Mosaic trisomy 9 oboInOwl:hasDbXref UMLS:C2930908 semapv:UnspecifiedMatching -Orphanet:99777 Achalasia-alacrimia syndrome oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching -Orphanet:99777 Achalasia-alacrimia syndrome oboInOwl:hasDbXref ICD10:E27.4 semapv:UnspecifiedMatching +Orphanet:99776 Mosaic trisomy 9 oboInOwl:hasDbXref icd11:LD40.Y semapv:UnspecifiedMatching Orphanet:99777 Achalasia-alacrimia syndrome oboInOwl:hasDbXref MESH:C536009 semapv:UnspecifiedMatching -Orphanet:99777 Achalasia-alacrimia syndrome oboInOwl:hasDbXref OMIM:231550 semapv:UnspecifiedMatching Orphanet:99789 Dentin dysplasia type I oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching Orphanet:99789 Dentin dysplasia type I oboInOwl:hasDbXref ICD10:K00.5 semapv:UnspecifiedMatching Orphanet:99789 Dentin dysplasia type I oboInOwl:hasDbXref MESH:C538215 semapv:UnspecifiedMatching @@ -57284,6 +57469,7 @@ Orphanet:998 Albinism-deafness syndrome oboInOwl:hasDbXref icd11:LD2H.Y semapv:U Orphanet:99802 Hemimegalencephaly oboInOwl:hasDbXref ICD10:Q04.5 semapv:UnspecifiedMatching Orphanet:99802 Hemimegalencephaly oboInOwl:hasDbXref ICD10:Q04.5 semapv:UnspecifiedMatching Orphanet:99802 Hemimegalencephaly oboInOwl:hasDbXref MESH:D065705 semapv:UnspecifiedMatching +Orphanet:99802 Hemimegalencephaly oboInOwl:hasDbXref MedDRA:10078100 semapv:UnspecifiedMatching Orphanet:99802 Hemimegalencephaly oboInOwl:hasDbXref UMLS:C0431391 semapv:UnspecifiedMatching Orphanet:99802 Hemimegalencephaly oboInOwl:hasDbXref icd11:LA05.1 semapv:UnspecifiedMatching Orphanet:99803 Haddad syndrome oboInOwl:hasDbXref ICD10:G47.3 semapv:UnspecifiedMatching @@ -57297,7 +57483,6 @@ Orphanet:99806 Oculootodental syndrome oboInOwl:hasDbXref OMIM:166750 semapv:Uns Orphanet:99806 Oculootodental syndrome oboInOwl:hasDbXref UMLS:C2750325 semapv:UnspecifiedMatching Orphanet:99807 PEHO-like syndrome oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching Orphanet:99807 PEHO-like syndrome oboInOwl:hasDbXref ICD10:G93.4 semapv:UnspecifiedMatching -Orphanet:99807 PEHO-like syndrome oboInOwl:hasDbXref OMIM:260565 semapv:UnspecifiedMatching Orphanet:99807 PEHO-like syndrome oboInOwl:hasDbXref OMIM:617507 semapv:UnspecifiedMatching Orphanet:99807 PEHO-like syndrome oboInOwl:hasDbXref UMLS:C1850056 semapv:UnspecifiedMatching Orphanet:99810 Familial porencephaly oboInOwl:hasDbXref ICD10:Q04.6 semapv:UnspecifiedMatching @@ -57305,6 +57490,7 @@ Orphanet:99810 Familial porencephaly oboInOwl:hasDbXref ICD10:Q04.6 semapv:Unspe Orphanet:99810 Familial porencephaly oboInOwl:hasDbXref MESH:C536850 semapv:UnspecifiedMatching Orphanet:99810 Familial porencephaly oboInOwl:hasDbXref OMIM:175780 semapv:UnspecifiedMatching Orphanet:99810 Familial porencephaly oboInOwl:hasDbXref OMIM:614483 semapv:UnspecifiedMatching +Orphanet:99810 Familial porencephaly oboInOwl:hasDbXref OMIM:618360 semapv:UnspecifiedMatching Orphanet:99810 Familial porencephaly oboInOwl:hasDbXref UMLS:C1867983 semapv:UnspecifiedMatching Orphanet:99810 Familial porencephaly oboInOwl:hasDbXref icd11:LA05.60 semapv:UnspecifiedMatching Orphanet:99811 Neuronal intestinal pseudoobstruction oboInOwl:hasDbXref ICD10:K59.8 semapv:UnspecifiedMatching @@ -57319,8 +57505,6 @@ Orphanet:99812 LIG4 syndrome oboInOwl:hasDbXref MESH:C564694 semapv:UnspecifiedM Orphanet:99812 LIG4 syndrome oboInOwl:hasDbXref OMIM:606593 semapv:UnspecifiedMatching Orphanet:99812 LIG4 syndrome oboInOwl:hasDbXref UMLS:C1847827 semapv:UnspecifiedMatching Orphanet:99812 LIG4 syndrome oboInOwl:hasDbXref icd11:4A01.1Y semapv:UnspecifiedMatching -Orphanet:99817 Non-polyposis Turcot syndrome oboInOwl:hasDbXref ICD10:D48.9 semapv:UnspecifiedMatching -Orphanet:99817 Non-polyposis Turcot syndrome oboInOwl:hasDbXref ICD10:D48.9 semapv:UnspecifiedMatching Orphanet:99818 Turcot syndrome with polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:99818 Turcot syndrome with polyposis oboInOwl:hasDbXref ICD10:D12.6 semapv:UnspecifiedMatching Orphanet:99818 Turcot syndrome with polyposis oboInOwl:hasDbXref OMIM:175100 semapv:UnspecifiedMatching @@ -57501,6 +57685,7 @@ Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome oboInOwl:hasDbXref UMLS:C1 Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome oboInOwl:hasDbXref icd11:5A51.0 semapv:UnspecifiedMatching Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref ICD10:P70.2 semapv:UnspecifiedMatching +Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref MESH:C563425 semapv:UnspecifiedMatching Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:606176 semapv:UnspecifiedMatching Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:618856 semapv:UnspecifiedMatching Orphanet:99885 Isolated permanent neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:618857 semapv:UnspecifiedMatching @@ -57514,11 +57699,9 @@ Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:6103 Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref OMIM:610582 semapv:UnspecifiedMatching Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref UMLS:C0342273 semapv:UnspecifiedMatching Orphanet:99886 Transient neonatal diabetes mellitus oboInOwl:hasDbXref icd11:KB60.20 semapv:UnspecifiedMatching -Orphanet:99887 Acute megakaryoblastic leukemia in Down syndrome oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching -Orphanet:99887 Acute megakaryoblastic leukemia in Down syndrome oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching -Orphanet:99887 Acute megakaryoblastic leukemia in Down syndrome oboInOwl:hasDbXref icd11:2A60.41 semapv:UnspecifiedMatching -Orphanet:99888 NON RARE IN EUROPE: Adrenocortical adenoma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching -Orphanet:99888 NON RARE IN EUROPE: Adrenocortical adenoma oboInOwl:hasDbXref ICD10:D35.0 semapv:UnspecifiedMatching +Orphanet:99887 Acute megakaryoblastic leukemia in children with Down syndrome oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching +Orphanet:99887 Acute megakaryoblastic leukemia in children with Down syndrome oboInOwl:hasDbXref ICD10:C94.2 semapv:UnspecifiedMatching +Orphanet:99887 Acute megakaryoblastic leukemia in children with Down syndrome oboInOwl:hasDbXref icd11:2A60.41 semapv:UnspecifiedMatching Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion oboInOwl:hasDbXref ICD10:E24.3 semapv:UnspecifiedMatching Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion oboInOwl:hasDbXref ICD10:E24.3 semapv:UnspecifiedMatching Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion oboInOwl:hasDbXref UMLS:C0001231 semapv:UnspecifiedMatching @@ -57538,8 +57721,6 @@ Orphanet:999 Ermine phenotype oboInOwl:hasDbXref MESH:C535508 semapv:Unspecified Orphanet:999 Ermine phenotype oboInOwl:hasDbXref OMIM:227010 semapv:UnspecifiedMatching Orphanet:999 Ermine phenotype oboInOwl:hasDbXref UMLS:C1856899 semapv:UnspecifiedMatching Orphanet:999 Ermine phenotype oboInOwl:hasDbXref icd11:LD2H.Y semapv:UnspecifiedMatching -Orphanet:99900 Long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching -Orphanet:99900 Long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching Orphanet:99900 Long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref MESH:C535690 semapv:UnspecifiedMatching Orphanet:99900 Long chain acyl-CoA dehydrogenase deficiency oboInOwl:hasDbXref UMLS:C0220711 semapv:UnspecifiedMatching Orphanet:99901 Acyl-CoA dehydrogenase 9 deficiency oboInOwl:hasDbXref ICD10:E71.3 semapv:UnspecifiedMatching @@ -57674,6 +57855,7 @@ Orphanet:99932 Heiner syndrome oboInOwl:hasDbXref ICD10:E83.1+ semapv:Unspecifie Orphanet:99932 Heiner syndrome oboInOwl:hasDbXref ICD10:E83.1+ semapv:UnspecifiedMatching Orphanet:99932 Heiner syndrome oboInOwl:hasDbXref ICD10:J99.8* semapv:UnspecifiedMatching Orphanet:99932 Heiner syndrome oboInOwl:hasDbXref ICD10:J99.8* semapv:UnspecifiedMatching +Orphanet:99932 Heiner syndrome oboInOwl:hasDbXref UMLS:C3873343 semapv:UnspecifiedMatching Orphanet:99932 Heiner syndrome oboInOwl:hasDbXref icd11:CB05.5 semapv:UnspecifiedMatching Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching Orphanet:99933 Pleuropulmonary blastoma type 1 oboInOwl:hasDbXref ICD10:C34.1 semapv:UnspecifiedMatching @@ -57836,6 +58018,7 @@ Orphanet:99956 Charcot-Marie-Tooth disease type 4B2 oboInOwl:hasDbXref icd11:8C2 Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 oboInOwl:hasDbXref ICD10:K83.1 semapv:UnspecifiedMatching Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 oboInOwl:hasDbXref ICD10:K83.1 semapv:UnspecifiedMatching Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 oboInOwl:hasDbXref OMIM:243300 semapv:UnspecifiedMatching +Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 oboInOwl:hasDbXref UMLS:C4551899 semapv:UnspecifiedMatching Orphanet:99960 Benign recurrent intrahepatic cholestasis type 1 oboInOwl:hasDbXref icd11:5C58.04 semapv:UnspecifiedMatching Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 oboInOwl:hasDbXref ICD10:K83.1 semapv:UnspecifiedMatching Orphanet:99961 Benign recurrent intrahepatic cholestasis type 2 oboInOwl:hasDbXref ICD10:K83.1 semapv:UnspecifiedMatching @@ -57906,12 +58089,13 @@ Orphanet:99989 Intermediate DEND syndrome oboInOwl:hasDbXref ICD10:P70.2 semapv: Orphanet:99989 Intermediate DEND syndrome oboInOwl:hasDbXref UMLS:C5680423 semapv:UnspecifiedMatching Orphanet:99990 Brill-Zinsser disease oboInOwl:hasDbXref ICD10:A75.1 semapv:UnspecifiedMatching Orphanet:99990 Brill-Zinsser disease oboInOwl:hasDbXref ICD10:A75.1 semapv:UnspecifiedMatching +Orphanet:99990 Brill-Zinsser disease oboInOwl:hasDbXref MedDRA:10038017 semapv:UnspecifiedMatching Orphanet:99990 Brill-Zinsser disease oboInOwl:hasDbXref UMLS:C0006181 semapv:UnspecifiedMatching Orphanet:99990 Brill-Zinsser disease oboInOwl:hasDbXref icd11:1C30.1 semapv:UnspecifiedMatching Orphanet:99991 Relapsing epidemic typhus oboInOwl:hasDbXref ICD10:A75.0 semapv:UnspecifiedMatching Orphanet:99991 Relapsing epidemic typhus oboInOwl:hasDbXref ICD10:A75.0 semapv:UnspecifiedMatching Orphanet:99991 Relapsing epidemic typhus oboInOwl:hasDbXref UMLS:C5681812 semapv:UnspecifiedMatching -Orphanet:99991 Relapsing epidemic typhus oboInOwl:hasDbXref icd11:1C30.1 semapv:UnspecifiedMatching +Orphanet:99991 Relapsing epidemic typhus oboInOwl:hasDbXref icd11:1C30.Y semapv:UnspecifiedMatching Orphanet:99994 Complex regional pain syndrome type 2 oboInOwl:hasDbXref ICD10:G90.6 semapv:UnspecifiedMatching Orphanet:99994 Complex regional pain syndrome type 2 oboInOwl:hasDbXref ICD10:G90.6 semapv:UnspecifiedMatching Orphanet:99994 Complex regional pain syndrome type 2 oboInOwl:hasDbXref MedDRA:10064335 semapv:UnspecifiedMatching diff --git a/src/ontology/external/nando-mappings.robot.owl b/src/ontology/external/nando-mappings.robot.owl index 3af6ffd5..863b24bf 100644 --- a/src/ontology/external/nando-mappings.robot.owl +++ b/src/ontology/external/nando-mappings.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/nord.robot.owl b/src/ontology/external/nord.robot.owl index 86cdc66d..e049788d 100644 --- a/src/ontology/external/nord.robot.owl +++ b/src/ontology/external/nord.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + @@ -7234,6 +7234,20 @@ + + + + + + + + + + MONDO:NORD + + + + @@ -13011,6 +13025,12 @@ Keratosis Follicularis + + + + NORD:1329 + MONDO:NORD + @@ -13025,12 +13045,6 @@ MONDO:NORD NORD:1329 - - - - NORD:1329 - MONDO:NORD - @@ -21396,6 +21410,27 @@ + + + + Small cell lung cancer + + + + + + Small cell lung cancer + http://purl.obolibrary.org/obo/mondo#NORD_LABEL + + + + + + MONDO:NORD + + + + @@ -54032,20 +54067,6 @@ - - - - - - - - - - MONDO:NORD - - - - @@ -123112,13 +123133,21 @@ + NORD:854 Bile Acid Synthesis Disorders + + + + NORD:854 + MONDO:NORD + Bile Acid Synthesis Disorders + NORD:854 http://purl.obolibrary.org/obo/mondo#NORD_LABEL @@ -123126,6 +123155,7 @@ MONDO:NORD + NORD:854 @@ -153321,6 +153351,20 @@ + + + + + + + + + + MONDO:NORD + + + + diff --git a/src/ontology/external/nord.robot.tsv b/src/ontology/external/nord.robot.tsv index a28c2796..525f0149 100644 --- a/src/ontology/external/nord.robot.tsv +++ b/src/ontology/external/nord.robot.tsv @@ -1,83 +1,77 @@ mondo_id report_ref report_ref_source preferred_name preferred_name_source synonym_type subset subset_source subset_source2 ID A oboInOwl:hasDbXref >A oboInOwl:source A oboInOwl:hasExactSynonym >A oboInOwl:hasDbXref >A oboInOwl:hasSynonymType AI oboInOwl:inSubset >A oboInOwl:source >A oboInOwl:source -MONDO:0958329 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0957248 DNM1-Encephalopathy and Neurodevelopmental Disorder http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0859190 ZMYM2-related neurodevelopmental disorder with multiple anomalies http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0800459 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014017 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0032908 MN1 C-Terminal Truncation Syndrome http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0032922 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:8000024 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:8000015 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:8000012 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:8000015 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:8000011 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:8000008 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:8000006 NORD:1849 MONDO:NORD WHIM Syndrome NORD:1849 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1849 MONDO:NORD +MONDO:8000008 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0859573 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0859154 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0850109 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850115 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850108 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0850109 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0850106 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850104 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850105 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0850106 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850102 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850103 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0850100 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850097 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0850090 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0850100 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850095 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850089 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0850090 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850087 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850070 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850071 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0850068 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850067 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0850068 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850058 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850059 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0850049 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850050 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850046 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850048 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0850014 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0850049 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850015 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850013 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0850014 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0800453 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0800383 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0800375 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0800376 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0800370 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0800372 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0800367 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0800368 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0800370 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0800365 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0800359 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0800365 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0800352 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0800356 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0800314 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0800302 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0800291 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0800204 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0800198 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0800201 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0800204 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0800196 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0800198 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0800175 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0800166 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0800167 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0800148 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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NORD:1131 MONDO:NORD NORD:1131 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1131 MONDO:NORD +MONDO:0020099 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020082 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0020081 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020074 NORD:1617 MONDO:NORD NORD:1617 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1617 MONDO:NORD MONDO:0020072 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020066 NORD:1080 MONDO:NORD Ehlers Danlos Syndrome NORD:1080 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1080 MONDO:NORD @@ -1604,140 +1589,139 @@ MONDO:0020064 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0020048 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020043 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020007 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019994 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019992 NORD:1627 MONDO:NORD NORD:1627 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1627 MONDO:NORD +MONDO:0019994 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019993 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019991 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019990 NORD:2024 MONDO:NORD Fibrillary Glomerulonephritis  NORD:2024 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2024 MONDO:NORD +MONDO:0019991 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019985 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019988 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019989 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019985 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019983 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019984 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019982 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019980 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019981 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019979 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019982 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019978 NORD:1673 MONDO:NORD NORD:1673 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1673 MONDO:NORD -MONDO:0019977 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019979 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019975 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019976 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019977 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019971 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019972 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019973 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019971 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019969 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019970 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019967 NORD:1332 MONDO:NORD Kienböck Disease NORD:1332 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1332 MONDO:NORD MONDO:0019964 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019963 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019967 NORD:1332 MONDO:NORD Kienböck Disease NORD:1332 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1332 MONDO:NORD MONDO:0019962 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019963 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019960 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019959 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019957 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019955 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019953 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019951 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019949 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019948 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019949 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019944 NORD:1081 MONDO:NORD NORD:1081 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1081 MONDO:NORD MONDO:0019945 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019942 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019943 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019944 NORD:1081 MONDO:NORD NORD:1081 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1081 MONDO:NORD MONDO:0019941 NORD:1235 MONDO:NORD Hereditary Sensory and Autonomic Neuropathy Type II NORD:1235 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1235 MONDO:NORD -MONDO:0019935 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019933 NORD:723 MONDO:NORD NORD:723 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:723 MONDO:NORD MONDO:0019934 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019935 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019932 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019931 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019929 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019933 NORD:723 MONDO:NORD NORD:723 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:723 MONDO:NORD MONDO:0019930 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019931 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019928 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019929 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019926 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019923 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019924 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019925 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019922 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019923 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019920 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019921 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019919 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019917 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019922 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019918 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019915 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019919 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019920 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019916 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019917 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019913 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019914 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019915 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019910 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019911 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019912 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019909 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019910 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019908 NORD:941 MONDO:NORD Chromosome 15 Ring NORD:941 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:941 MONDO:NORD +MONDO:0019909 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019906 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019907 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019905 NORD:962 MONDO:NORD Chromosome 9 Ring NORD:962 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:962 MONDO:NORD -MONDO:0019903 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019904 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019905 NORD:962 MONDO:NORD Chromosome 9 Ring NORD:962 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:962 MONDO:NORD MONDO:0019902 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019903 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019900 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019897 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019898 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019893 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019895 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019896 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019893 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019891 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019892 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019889 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019890 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019886 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019887 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019888 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019885 NORD:937 MONDO:NORD Chromosome 11, Partial Trisomy 11q NORD:937 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:937 MONDO:NORD -MONDO:0019886 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019884 NORD:934 MONDO:NORD Chromosome 10, Distal Trisomy 10q NORD:934 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:934 MONDO:NORD +MONDO:0019885 NORD:937 MONDO:NORD Chromosome 11, Partial Trisomy 11q NORD:937 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:937 MONDO:NORD MONDO:0019882 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019883 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019788 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019789 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019784 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019786 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019787 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019782 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019783 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019780 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019773 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019780 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019771 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019772 NORD:1425 MONDO:NORD Meige Syndrome NORD:1425 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1425 MONDO:NORD MONDO:0019763 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019764 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019761 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare 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Disorders NORD:854 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:854 MONDO:NORD MONDO:0019212 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019211 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019209 NORD:1088 MONDO:NORD Encephalitis, Japanese NORD:1088 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1088 MONDO:NORD MONDO:0019210 NORD:1947 MONDO:NORD Merkel Cell Carcinoma NORD:1947 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1947 MONDO:NORD -MONDO:0019208 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019207 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019208 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019205 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019204 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019203 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019204 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019201 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019202 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019200 NORD:1661 MONDO:NORD NORD:1661 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1661 MONDO:NORD MONDO:0019199 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019198 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019200 NORD:1661 MONDO:NORD NORD:1661 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1661 MONDO:NORD MONDO:0019196 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019195 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019198 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019194 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019193 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019195 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019192 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019193 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019190 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019191 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019188 NORD:1682 MONDO:NORD NORD:1682 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1682 MONDO:NORD -MONDO:0019187 NORD:1670 MONDO:NORD NORD:1670 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1670 MONDO:NORD MONDO:0019186 NORD:1643 MONDO:NORD NORD:1643 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1643 MONDO:NORD +MONDO:0019187 NORD:1670 MONDO:NORD NORD:1670 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1670 MONDO:NORD MONDO:0019181 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019179 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019180 NORD:1229 MONDO:NORD NORD:1229 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1229 MONDO:NORD MONDO:0019177 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019173 NORD:1644 MONDO:NORD NORD:1644 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1644 MONDO:NORD -MONDO:0019171 NORD:1675 MONDO:NORD Long QT Syndrome NORD:1675 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1675 MONDO:NORD MONDO:0019170 NORD:1588 MONDO:NORD NORD:1588 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1588 MONDO:NORD +MONDO:0019171 NORD:1675 MONDO:NORD Long QT Syndrome NORD:1675 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1675 MONDO:NORD MONDO:0019168 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019169 NORD:1641 MONDO:NORD Pyruvate Dehydrogenase Complex Deficiency NORD:1641 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1641 MONDO:NORD MONDO:0019167 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019164 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019161 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019162 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019164 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019159 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019161 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019160 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019158 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019156 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019157 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019155 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019154 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019153 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019151 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019155 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019152 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019153 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019149 NORD:929 MONDO:NORD NORD:929 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:929 MONDO:NORD +MONDO:0019151 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019148 NORD:1862 MONDO:NORD NORD:1862 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1862 MONDO:NORD MONDO:0019145 NORD:1899 MONDO:NORD Protein C Deficiency NORD:1899 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1899 MONDO:NORD -MONDO:0019144 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019142 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019143 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019141 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019144 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019140 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019141 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019142 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019137 NORD:1511 MONDO:NORD Non-24-Hour Sleep-Wake Disorder NORD:1511 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1511 MONDO:NORD -MONDO:0019136 NORD:1946 MONDO:NORD Mucormycosis NORD:1946 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1946 MONDO:NORD MONDO:0019134 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019136 NORD:1946 MONDO:NORD Mucormycosis NORD:1946 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1946 MONDO:NORD MONDO:0019131 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019130 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019127 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019124 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019125 NORD:1655 MONDO:NORD NORD:1655 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1655 MONDO:NORD -MONDO:0019122 NORD:728 MONDO:NORD Acute Eosinophilic Pneumonia NORD:728 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:728 MONDO:NORD +MONDO:0019127 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019123 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019124 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019121 NORD:1923 MONDO:NORD Pneumocystis Pneumonia NORD:1923 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1923 MONDO:NORD +MONDO:0019122 NORD:728 MONDO:NORD Acute Eosinophilic Pneumonia NORD:728 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:728 MONDO:NORD MONDO:0019120 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019113 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019114 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019115 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019112 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019113 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019111 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019112 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019108 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019109 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019107 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019104 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019105 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019102 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019100 NORD:1505 MONDO:NORD Neuromyelitis Optica Spectrum Disorder NORD:1505 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1505 MONDO:NORD +MONDO:0019107 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019101 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019095 NORD:1583 MONDO:NORD NORD:1583 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1583 MONDO:NORD +MONDO:0019102 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019104 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019098 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019100 NORD:1505 MONDO:NORD Neuromyelitis Optica Spectrum Disorder NORD:1505 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1505 MONDO:NORD MONDO:0019094 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019092 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019095 NORD:1583 MONDO:NORD NORD:1583 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1583 MONDO:NORD MONDO:0019093 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019088 NORD:1950 MONDO:NORD NORD:1950 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1950 MONDO:NORD MONDO:0019091 NORD:874 MONDO:NORD NORD:874 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:874 MONDO:NORD +MONDO:0019092 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019087 NORD:926 MONDO:NORD NORD:926 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:926 MONDO:NORD +MONDO:0019088 NORD:1950 MONDO:NORD NORD:1950 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1950 MONDO:NORD MONDO:0019085 NORD:1826 MONDO:NORD Vernal Keratonconjunctivitis NORD:1826 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1826 MONDO:NORD MONDO:0019083 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019084 NORD:1615 MONDO:NORD Proctitis NORD:1615 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1615 MONDO:NORD +MONDO:0019080 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019082 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019079 NORD:1729 MONDO:NORD Spinal Muscular Atrophy NORD:1729 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019032 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019033 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019028 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019031 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019029 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019025 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019026 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -2217,85 +2200,84 @@ MONDO:0019023 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0019020 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019019 NORD:1535 MONDO:NORD NORD:1535 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1535 MONDO:NORD MONDO:0019018 NORD:2006 MONDO:NORD Takotsubo Cardiomyopathy NORD:2006 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2006 MONDO:NORD -MONDO:0019016 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019017 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019015 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019012 NORD:897 MONDO:NORD NORD:897 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:897 MONDO:NORD MONDO:0019013 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019015 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019016 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019011 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019012 NORD:897 MONDO:NORD NORD:897 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:897 MONDO:NORD MONDO:0019009 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019010 NORD:999 MONDO:NORD Congenital Hyperinsulinism NORD:999 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:999 MONDO:NORD -MONDO:0019008 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019007 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019008 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019005 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019004 NORD:1855 MONDO:NORD Wilms' Tumor NORD:1855 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1855 MONDO:NORD MONDO:0019003 NORD:1467 MONDO:NORD NORD:1467 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1467 MONDO:NORD +MONDO:0019004 NORD:1855 MONDO:NORD Wilms' Tumor NORD:1855 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1855 MONDO:NORD MONDO:0019002 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018999 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018998 NORD:1351 MONDO:NORD NORD:1351 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1351 MONDO:NORD -MONDO:0018997 NORD:1513 MONDO:NORD NORD:1513 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1513 MONDO:NORD -MONDO:0018995 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018999 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018996 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018993 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018997 NORD:1513 MONDO:NORD NORD:1513 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1513 MONDO:NORD MONDO:0018994 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018995 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018992 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018991 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018993 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018988 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018987 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018983 NORD:1774 MONDO:NORD Tolosa Hunt Syndrome NORD:1774 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1774 MONDO:NORD +MONDO:0018991 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018984 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018982 NORD:1509 MONDO:NORD Niemann Pick Disease Type C NORD:1509 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1509 MONDO:NORD -MONDO:0018980 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018987 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018981 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018982 NORD:1509 MONDO:NORD Niemann Pick Disease Type C NORD:1509 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1509 MONDO:NORD +MONDO:0018983 NORD:1774 MONDO:NORD Tolosa Hunt Syndrome NORD:1774 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1774 MONDO:NORD MONDO:0018979 NORD:1952 MONDO:NORD NORD:1952 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1952 MONDO:NORD +MONDO:0018980 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018976 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018977 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018978 NORD:1146 MONDO:NORD Fibrosing Mediastinitis NORD:1146 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1146 MONDO:NORD -MONDO:0018976 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018975 NORD:1502 MONDO:NORD Neurofibromatosis 1 NORD:1502 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1502 MONDO:NORD MONDO:0018974 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018967 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018968 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018969 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018965 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018950 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018951 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018948 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018950 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018946 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018947 NORD:909 MONDO:NORD NORD:909 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:909 MONDO:NORD +MONDO:0018948 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018945 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018946 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018944 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018940 NORD:1893 MONDO:NORD Congenital Myasthenic Syndromes NORD:1893 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1893 MONDO:NORD MONDO:0018941 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018942 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018940 NORD:1893 MONDO:NORD Congenital Myasthenic Syndromes NORD:1893 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1893 MONDO:NORD MONDO:0018939 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018938 NORD:1455 MONDO:NORD Mucopolysaccharidosis IV NORD:1455 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1455 MONDO:NORD MONDO:0018937 NORD:1463 MONDO:NORD Mucopolysaccharidosis Type III NORD:1463 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1463 MONDO:NORD MONDO:0018935 NORD:1213 MONDO:NORD NORD:1213 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1213 MONDO:NORD MONDO:0018936 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018933 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018932 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018933 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018931 NORD:1624 MONDO:NORD Pseudo Hurler Polydystrophy NORD:1624 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1624 MONDO:NORD -MONDO:0018929 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018930 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018927 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018926 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018924 NORD:1359 MONDO:NORD Lenz Microphthalmia Syndrome NORD:1359 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1359 MONDO:NORD +MONDO:0018929 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018925 NORD:1979 MONDO:NORD Hemiplegic Migraine NORD:1979 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1979 MONDO:NORD +MONDO:0018926 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018923 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018924 NORD:1359 MONDO:NORD Lenz Microphthalmia Syndrome NORD:1359 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1359 MONDO:NORD MONDO:0018922 NORD:775 MONDO:NORD NORD:775 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:775 MONDO:NORD -MONDO:0018920 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018919 NORD:1413 MONDO:NORD McCune Albright Syndrome NORD:1413 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1413 MONDO:NORD -MONDO:0018916 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018920 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018913 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018914 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018911 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -2306,116 +2288,116 @@ MONDO:0018905 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0018906 NORD:1983 MONDO:NORD NORD:1983 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1983 MONDO:NORD MONDO:0018903 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018904 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018902 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018901 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018902 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018898 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018899 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018900 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018898 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018896 NORD:1769 MONDO:NORD NORD:1769 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1769 MONDO:NORD MONDO:0018897 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018895 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018893 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018891 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018892 NORD:1863 MONDO:NORD NORD:1863 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1863 MONDO:NORD +MONDO:0018893 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018890 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018891 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018889 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018885 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018884 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018885 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018883 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018881 NORD:1480 MONDO:NORD Myelodysplastic Syndromes NORD:1480 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1480 MONDO:NORD MONDO:0018878 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018879 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018877 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018876 NORD:1399 MONDO:NORD NORD:1399 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1399 MONDO:NORD +MONDO:0018877 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018875 NORD:1913 MONDO:NORD NORD:1913 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1913 MONDO:NORD -MONDO:0018874 NORD:1905 MONDO:NORD NORD:1905 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1905 MONDO:NORD MONDO:0018873 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018874 NORD:1905 MONDO:NORD NORD:1905 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1905 MONDO:NORD MONDO:0018872 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018871 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018870 NORD:2001 MONDO:NORD Generalized Arterial Calcification of Infancy NORD:2001 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2001 MONDO:NORD MONDO:0018869 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018870 NORD:2001 MONDO:NORD Generalized Arterial Calcification of Infancy NORD:2001 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2001 MONDO:NORD +MONDO:0018871 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018868 NORD:1369 MONDO:NORD NORD:1369 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1369 MONDO:NORD MONDO:0018865 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018866 NORD:111728 MONDO:NORD Aicardi-Goutières Syndrome NORD:111728 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:111728 MONDO:NORD +MONDO:0018860 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018861 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018864 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018860 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018857 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018858 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018856 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018855 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018853 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018854 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018852 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018851 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018850 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018848 NORD:1665 MONDO:NORD Retroperitoneal Fibrosis NORD:1665 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1665 MONDO:NORD +MONDO:0018852 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018849 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018850 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018847 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018848 NORD:1665 MONDO:NORD Retroperitoneal Fibrosis NORD:1665 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1665 MONDO:NORD +MONDO:0018844 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018846 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018845 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018844 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018842 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018843 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018839 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018840 NORD:1225 MONDO:NORD Congenital Hepatic Fibrosis NORD:1225 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1225 MONDO:NORD -MONDO:0018837 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018838 NORD:1374 MONDO:NORD Lissencephaly NORD:1374 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1374 MONDO:NORD +MONDO:0018839 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018835 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018837 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018830 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018828 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018829 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018825 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018826 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018827 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018825 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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MONDO:NORD MONDO:0018818 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018815 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018813 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018815 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018811 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018809 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018810 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018807 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018808 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018143 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018146 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018141 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018142 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018135 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018136 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018137 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018135 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018128 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018124 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018125 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018126 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018123 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018124 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018116 NORD:1170 MONDO:NORD NORD:1170 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1170 MONDO:NORD MONDO:0018115 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018109 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018116 NORD:1170 MONDO:NORD NORD:1170 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1170 MONDO:NORD MONDO:0018108 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018106 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018109 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018103 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018106 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018102 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018097 NORD:1848 MONDO:NORD NORD:1848 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1848 MONDO:NORD MONDO:0018095 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018096 NORD:1842 MONDO:NORD Weill Marchesani Syndrome NORD:1842 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1842 MONDO:NORD -MONDO:0018093 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018094 NORD:1832 MONDO:NORD NORD:1832 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1832 MONDO:NORD MONDO:0018092 NORD:1829 MONDO:NORD NORD:1829 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1829 MONDO:NORD +MONDO:0018093 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018090 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018088 NORD:1130 MONDO:NORD Fiebre mediterránea familiar NORD:1130 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1130 MONDO:NORD MONDO:0018089 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018087 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018085 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018086 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018084 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018087 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018082 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018084 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018083 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018081 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018079 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018078 NORD:1953 MONDO:NORD NORD:1953 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1953 MONDO:NORD 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http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018067 NORD:1794 MONDO:NORD NORD:1794 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1794 MONDO:NORD MONDO:0018068 NORD:1796 MONDO:NORD Trisomy 13 Syndrome NORD:1796 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1796 MONDO:NORD +MONDO:0018069 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018065 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018066 NORD:1798 MONDO:NORD NORD:1798 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1798 MONDO:NORD MONDO:0018064 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018065 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018063 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018061 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018062 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018058 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018059 NORD:1438 MONDO:NORD NORD:1438 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1438 MONDO:NORD MONDO:0018060 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018058 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018056 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018055 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018056 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018053 NORD:1292 MONDO:NORD NORD:1292 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1292 MONDO:NORD MONDO:0018054 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018051 NORD:1384 MONDO:NORD Lymphocytic Infiltrate of Jessner NORD:1384 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1384 MONDO:NORD -MONDO:0018053 NORD:1292 MONDO:NORD NORD:1292 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1292 MONDO:NORD +MONDO:0018047 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018050 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018048 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018047 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018044 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018045 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018039 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018034 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018030 NORD:964 MONDO:NORD Chromosome 9, Tetrasomy 9p NORD:964 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:964 MONDO:NORD MONDO:0018031 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018034 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018029 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018028 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018026 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018030 NORD:964 MONDO:NORD Chromosome 9, Tetrasomy 9p NORD:964 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:964 MONDO:NORD MONDO:0018027 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018028 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018024 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018026 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018025 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018022 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018023 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -2876,47 +2856,47 @@ MONDO:0018020 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0018021 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018018 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018019 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018016 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018017 NORD:1931 MONDO:NORD Goblet Cell Adenocarcinoma NORD:1931 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1931 MONDO:NORD MONDO:0018015 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018016 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018014 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018013 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017829 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017826 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017830 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017827 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017824 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017825 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017826 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017823 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017818 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017817 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017818 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017815 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017816 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017814 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017812 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017813 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017814 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017811 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017810 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017807 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017808 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017809 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017806 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017807 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017804 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017805 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017806 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017802 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017803 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017804 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017800 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017801 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017795 NORD:764 MONDO:NORD NORD:764 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:764 MONDO:NORD MONDO:0017798 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017799 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017795 NORD:764 MONDO:NORD NORD:764 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:764 MONDO:NORD MONDO:0017794 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017793 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017792 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017790 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017791 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017789 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017787 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017792 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017791 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017788 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017789 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017785 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017786 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017787 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017783 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017784 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017780 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017781 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017782 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017780 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017778 NORD:1289 MONDO:NORD NORD:1289 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1289 MONDO:NORD MONDO:0017779 NORD:1693 MONDO:NORD Schindler disease NORD:1693 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1693 MONDO:NORD +MONDO:0017775 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017776 NORD:1510 MONDO:NORD NORD:1510 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1510 MONDO:NORD MONDO:0017774 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017775 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017771 NORD:1412 MONDO:NORD Mayer-Rokitansky-Küster-Hauser Syndrome NORD:1412 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1412 MONDO:NORD MONDO:0017767 NORD:1668 MONDO:NORD NORD:1668 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1668 MONDO:NORD MONDO:0017746 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017737 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017735 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017737 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017732 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017733 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017730 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017728 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017729 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017726 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017727 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017724 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017725 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017726 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017722 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017723 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017721 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017722 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017720 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017712 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017711 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017708 NORD:1260 MONDO:NORD NORD:1260 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1260 MONDO:NORD +MONDO:0017711 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017712 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017705 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017701 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017700 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017701 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017698 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017699 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017697 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017696 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017694 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017697 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017695 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017692 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017694 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017691 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017685 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017683 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017685 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017677 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017675 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017659 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017649 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017648 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017638 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017639 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017640 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017638 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017636 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017630 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017636 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017627 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017628 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017625 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017624 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017623 NORD:1631 MONDO:NORD NORD:1631 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1631 MONDO:NORD +MONDO:0017624 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017617 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017616 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017615 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017616 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017612 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017611 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017609 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017610 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017611 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017607 NORD:902 MONDO:NORD Caudal Regression Syndrome NORD:902 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:902 MONDO:NORD -MONDO:0017604 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017602 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017609 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017603 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017601 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017599 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017604 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017600 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017601 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017602 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017598 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017599 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017596 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017597 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017595 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -3120,47 +3100,47 @@ MONDO:0017591 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0017589 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017590 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017587 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017584 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017585 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017586 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017584 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017583 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017582 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017580 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017583 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017579 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017580 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017577 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017574 NORD:970 MONDO:NORD Chronic Intestinal Pseudo-Obstruction NORD:970 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:970 MONDO:NORD MONDO:0017575 NORD:1449 MONDO:NORD Mitochondrial Neurogastrointestinal Encephalopathy NORD:1449 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1449 MONDO:NORD MONDO:0017573 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017574 NORD:970 MONDO:NORD Chronic Intestinal Pseudo-Obstruction NORD:970 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:970 MONDO:NORD MONDO:0017571 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017572 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017570 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017569 NORD:1034 MONDO:NORD NORD:1034 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1034 MONDO:NORD +MONDO:0017570 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017565 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017566 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017567 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017564 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017565 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017561 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017559 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017560 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017561 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017558 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017559 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017554 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017555 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017552 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017553 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017554 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017546 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017547 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017543 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017544 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017545 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017543 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017535 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017527 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017526 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017525 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017522 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017527 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017523 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017525 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017520 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017519 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017522 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017515 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017519 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017512 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017503 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017498 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -3170,75 +3150,74 @@ MONDO:0017477 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0017478 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017475 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017476 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017474 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017471 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017472 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017474 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017469 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017470 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017471 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017467 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017468 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017464 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017465 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017466 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017463 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017464 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017461 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017462 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017463 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017460 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017461 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017455 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017453 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017446 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017444 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017445 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017446 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017442 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017443 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017444 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017440 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017441 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017437 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017438 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017439 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017437 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017435 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017436 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017426 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017423 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017419 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017418 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017419 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017417 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017416 NORD:1600 MONDO:NORD Post Polio Syndrome NORD:1600 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1600 MONDO:NORD MONDO:0017415 NORD:1632 MONDO:NORD Pterygium Syndrome, Multiple NORD:1632 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1632 MONDO:NORD +MONDO:0017416 NORD:1600 MONDO:NORD Post Polio Syndrome NORD:1600 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1600 MONDO:NORD MONDO:0017410 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017411 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017409 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017407 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017408 NORD:1648 MONDO:NORD Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation NORD:1648 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1648 MONDO:NORD -MONDO:0017405 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017403 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017404 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017405 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017401 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017402 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017400 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017399 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017396 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017398 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017399 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017400 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017395 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017396 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017394 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017393 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017391 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017392 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017393 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017388 NORD:1957 MONDO:NORD Median Arcuate Ligament Syndrome NORD:1957 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1957 MONDO:NORD +MONDO:0017391 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017389 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017387 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017385 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017386 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017387 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017384 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017385 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017382 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017381 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017380 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017381 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017377 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017376 NORD:1650 MONDO:NORD NORD:1650 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1650 MONDO:NORD MONDO:0017375 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017376 NORD:1650 MONDO:NORD NORD:1650 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1650 MONDO:NORD MONDO:0017373 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017372 NORD:1003 MONDO:NORD NORD:1003 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1003 MONDO:NORD MONDO:0017366 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017372 NORD:1003 MONDO:NORD NORD:1003 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1003 MONDO:NORD MONDO:0017364 NORD:1586 MONDO:NORD NORD:1586 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1586 MONDO:NORD MONDO:0017362 NORD:1560 MONDO:NORD Parsonage Turner Syndrome NORD:1560 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1560 MONDO:NORD MONDO:0017363 NORD:967 MONDO:NORD Chronic Eosinophilic Pneumonia NORD:967 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:967 MONDO:NORD @@ -3246,204 +3225,203 @@ MONDO:0017361 NORD:1681 MONDO:NORD Rubella, Congenital NORD:1681 http://purl.obo MONDO:0017360 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017357 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017354 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017349 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017348 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017349 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017346 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017347 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017339 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017340 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017337 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017335 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017337 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017330 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017332 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017334 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017330 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017328 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017329 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017327 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017324 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017325 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017326 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017324 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017321 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017317 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017318 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017319 NORD:1935 MONDO:NORD Hashimoto Encephalopathy NORD:1935 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1935 MONDO:NORD -MONDO:0017317 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017315 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017314 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017312 NORD:2031 MONDO:NORD NORD:2031 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2031 MONDO:NORD MONDO:0017309 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017304 NORD:1516 MONDO:NORD NORD:1516 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1516 MONDO:NORD -MONDO:0017301 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017299 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017300 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017301 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017298 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017296 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017299 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017297 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017295 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017296 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017291 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017292 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017289 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017285 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017286 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017284 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017283 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017285 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017282 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017283 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017280 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017279 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017278 NORD:790 MONDO:NORD Antiphospholipid Syndrome NORD:790 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0016061 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0016063 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0016062 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0016061 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0016060 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0016058 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0016056 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0016057 NORD:1089 MONDO:NORD Encephalocele 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http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0016017 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0016015 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0016013 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0016014 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0016012 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0016010 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0016009 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0016008 NORD:1139 MONDO:NORD NORD:1139 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0016001 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015999 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0016001 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015998 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015993 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015995 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015990 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015988 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015380 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015381 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015379 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015380 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015378 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015377 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015375 NORD:1529 MONDO:NORD Oral-Facial-Digital Syndrome NORD:1529 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1529 MONDO:NORD MONDO:0015376 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015374 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015377 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015372 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015371 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015369 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015374 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015375 NORD:1529 MONDO:NORD Oral-Facial-Digital Syndrome NORD:1529 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1529 MONDO:NORD MONDO:0015367 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015369 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015371 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015363 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015357 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015354 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015355 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015351 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015352 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015353 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015351 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015349 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015350 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015347 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015348 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015346 NORD:152960 MONDO:NORD Epilepsy with Eyelid Myoclonia NORD:152960 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:152960 MONDO:NORD MONDO:0015344 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015345 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015346 NORD:152960 MONDO:NORD Epilepsy with Eyelid Myoclonia NORD:152960 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:152960 MONDO:NORD +MONDO:0015340 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015341 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015342 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015339 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015340 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015317 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015315 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015316 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015317 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015313 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015314 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015311 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015312 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015307 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015306 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015304 NORD:800 MONDO:NORD NORD:800 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:800 MONDO:NORD +MONDO:0015306 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015302 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015303 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015301 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015299 NORD:811 MONDO:NORD Asherman's Syndrome NORD:811 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:811 MONDO:NORD MONDO:0015300 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015301 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015298 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015299 NORD:811 MONDO:NORD Asherman's Syndrome NORD:811 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:811 MONDO:NORD +MONDO:0015293 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015294 NORD:1498 MONDO:NORD NORD:1498 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1498 MONDO:NORD MONDO:0015295 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015293 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015292 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015291 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015292 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015289 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015290 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015284 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015285 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015283 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015281 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015279 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015280 NORD:891 MONDO:NORD NORD:891 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:891 MONDO:NORD MONDO:0015278 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015279 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015275 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015273 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015272 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015269 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015268 NORD:1421 MONDO:NORD NORD:1421 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1421 MONDO:NORD +MONDO:0015269 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015267 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015265 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015264 NORD:873 MONDO:NORD Organizing Pneumonia NORD:873 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:873 MONDO:NORD MONDO:0015263 NORD:878 MONDO:NORD NORD:878 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:878 MONDO:NORD +MONDO:0015264 NORD:873 MONDO:NORD Organizing Pneumonia NORD:873 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:873 MONDO:NORD MONDO:0015261 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015262 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015260 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015257 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015259 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015260 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015254 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015252 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015257 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015253 NORD:773 MONDO:NORD Diamond Blackfan Anemia NORD:773 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:773 MONDO:NORD +MONDO:0015252 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015249 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015248 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015247 NORD:1527 MONDO:NORD Opsoclonus-Myoclonus-Ataxia Syndrome NORD:1527 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1527 MONDO:NORD -MONDO:0015244 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015243 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015241 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015244 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015247 NORD:1527 MONDO:NORD Opsoclonus-Myoclonus-Ataxia Syndrome NORD:1527 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1527 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014638 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014636 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014634 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014635 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014636 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014632 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014633 NORD:2035 MONDO:NORD Myoclonic Atonic Epilepsy NORD:2035 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2035 MONDO:NORD -MONDO:0014629 NORD:1973 MONDO:NORD COPA Syndrome NORD:1973 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1973 MONDO:NORD MONDO:0014630 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014627 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014625 NORD:111336 MONDO:NORD EEF1A2-Related Neurodevelopmental Disorder NORD:111336 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:111336 MONDO:NORD +MONDO:0014629 NORD:1973 MONDO:NORD COPA Syndrome NORD:1973 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1973 MONDO:NORD MONDO:0014626 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014627 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MONDO:NORD MONDO:0014566 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014563 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014562 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014563 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014561 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014559 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014558 NORD:1954 MONDO:NORD KAT6A Syndrome NORD:1954 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1954 MONDO:NORD +MONDO:0014559 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014557 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014556 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014552 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014555 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014549 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014552 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014547 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014546 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014547 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014544 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014545 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014542 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014543 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014541 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014538 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014539 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014541 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014537 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014538 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014534 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014536 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014533 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014531 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014532 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014530 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014531 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014528 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014529 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014527 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014528 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014526 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014524 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014525 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014522 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014523 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014520 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014521 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014518 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014520 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014514 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014515 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014516 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014514 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014512 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014510 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014511 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014508 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014509 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014506 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014510 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014507 NORD:901 MONDO:NORD Catel Manzke Syndrome NORD:901 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:901 MONDO:NORD +MONDO:0014508 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014505 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014504 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014506 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014503 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014504 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014501 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014502 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014500 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014498 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014499 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014497 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014495 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014493 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014490 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014497 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014492 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014489 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014490 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014487 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014485 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014486 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014484 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014483 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014482 NORD:1958 MONDO:NORD SETBP1 Haploinsufficiency Disorder NORD:1958 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1958 MONDO:NORD -MONDO:0014480 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014484 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014481 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014474 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014476 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014473 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014474 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014471 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014472 NORD:1939 MONDO:NORD Autoinflammation with Infantile Enterocolitis NORD:1939 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1939 MONDO:NORD -MONDO:0014470 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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MONDO:NORD CARASIL NORD:888 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:888 MONDO:NORD MONDO:0010826 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010827 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010824 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010823 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010822 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010819 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010823 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010821 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010818 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010817 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010819 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010816 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010817 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010814 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010808 NORD:1920 MONDO:NORD NORD:1920 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1920 MONDO:NORD MONDO:0010809 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010810 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010808 NORD:1920 MONDO:NORD NORD:1920 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1920 MONDO:NORD MONDO:0010806 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010807 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010805 NORD:860 MONDO:NORD Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex NORD:860 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:860 MONDO:NORD +MONDO:0010802 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010803 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010801 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010802 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010797 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010799 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010794 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010797 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010792 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010790 NORD:1441 MONDO:NORD NORD:1441 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1441 MONDO:NORD MONDO:0010788 NORD:1352 MONDO:NORD NORD:1352 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1352 MONDO:NORD -MONDO:0010786 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010787 NORD:1323 MONDO:NORD Kearns Sayre Syndrome NORD:1323 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1323 MONDO:NORD -MONDO:0010782 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010785 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010786 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010782 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010780 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010775 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010779 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010774 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010775 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010772 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010773 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010772 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010771 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010767 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010764 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010765 NORD:1750 MONDO:NORD Swyer syndrome NORD:1750 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1750 MONDO:NORD +MONDO:0010767 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010763 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010764 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010761 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010759 NORD:1853 MONDO:NORD NORD:1853 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1853 MONDO:NORD -MONDO:0010758 NORD:91159 MONDO:NORD ZC4H2-Associated Rare Disorders (ZARD) NORD:91159 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:91159 MONDO:NORD MONDO:0010756 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010753 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010758 NORD:91159 MONDO:NORD ZC4H2-Associated Rare Disorders (ZARD) NORD:91159 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:91159 MONDO:NORD MONDO:0010752 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010753 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010748 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010747 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010745 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010747 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010743 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010738 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010742 NORD:1566 MONDO:NORD NORD:1566 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1566 MONDO:NORD MONDO:0010737 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010736 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010735 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010733 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010731 NORD:1717 MONDO:NORD NORD:1717 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1717 MONDO:NORD +MONDO:0010735 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010730 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010731 NORD:1717 MONDO:NORD NORD:1717 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1717 MONDO:NORD MONDO:0010729 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010726 NORD:1666 MONDO:NORD NORD:1666 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1666 MONDO:NORD +MONDO:0010723 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010725 NORD:1864 MONDO:NORD NORD:1864 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1864 MONDO:NORD MONDO:0010722 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010723 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010720 NORD:771 MONDO:NORD NORD:771 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:771 MONDO:NORD MONDO:0010717 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010716 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010713 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010714 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010712 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010713 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010711 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010712 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010710 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010706 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010704 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -7407,24 +7370,23 @@ MONDO:0010698 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0010691 NORD:1514 MONDO:NORD NORD:1514 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1514 MONDO:NORD MONDO:0010690 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010689 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010686 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010684 NORD:1866 MONDO:NORD NORD:1866 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1866 MONDO:NORD -MONDO:0010682 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010686 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010683 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010680 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010679 NORD:1065 MONDO:NORD NORD:1065 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1065 MONDO:NORD +MONDO:0010680 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010674 NORD:1255 MONDO:NORD Mucopolysaccharidosis Type II NORD:1255 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1255 MONDO:NORD MONDO:0010672 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010671 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010669 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010671 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010668 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010665 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010664 NORD:1890 MONDO:NORD Snyder-Robinson Syndrome NORD:1890 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1890 MONDO:NORD MONDO:0010662 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010660 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010658 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010659 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010657 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010658 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010656 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010655 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010652 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -7432,25 +7394,25 @@ MONDO:0010651 NORD:1440 MONDO:NORD NORD:1440 http://purl.obolibrary.org/obo/mon MONDO:0010650 NORD:1430 MONDO:NORD Melnick Needles Syndrome NORD:1430 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1430 MONDO:NORD MONDO:0010649 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010646 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010645 NORD:1379 MONDO:NORD Lowe syndrome NORD:1379 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1379 MONDO:NORD MONDO:0010643 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010639 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010645 NORD:1379 MONDO:NORD Lowe syndrome NORD:1379 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1379 MONDO:NORD MONDO:0010641 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010639 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010637 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010632 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010631 NORD:1300 MONDO:NORD NORD:1300 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1300 MONDO:NORD +MONDO:0010632 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010627 NORD:1865 MONDO:NORD X linked Lymphoproliferative Syndrome NORD:1865 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1865 MONDO:NORD MONDO:0010626 NORD:1261 MONDO:NORD Hyper IgM Syndromes NORD:1261 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1261 MONDO:NORD MONDO:0010622 NORD:1293 MONDO:NORD Ichthyosis, X Linked NORD:1293 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1293 MONDO:NORD -MONDO:0010620 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010621 NORD:1284 MONDO:NORD Ichthyosis, CHILD Syndrome NORD:1284 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1284 MONDO:NORD +MONDO:0010620 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010619 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010618 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010615 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010614 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010615 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010612 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010611 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010610 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010611 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010607 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010604 NORD:1222 MONDO:NORD NORD:1222 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1222 MONDO:NORD MONDO:0010603 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -7458,41 +7420,41 @@ MONDO:0010602 NORD:1221 MONDO:NORD NORD:1221 http://purl.obolibrary.org/obo/mon MONDO:0010600 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010596 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010598 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010595 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010592 NORD:1152 MONDO:NORD NORD:1152 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1152 MONDO:NORD +MONDO:0010595 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010591 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010590 NORD:1142 MONDO:NORD FG Syndrome Type 1 NORD:1142 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1142 MONDO:NORD -MONDO:0010589 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010588 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010589 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010585 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010584 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010581 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010579 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010584 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010580 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010579 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010578 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010577 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010575 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010576 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010574 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010572 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010571 NORD:1539 MONDO:NORD Otopalatodigital Syndrome Type I and II NORD:1539 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1539 MONDO:NORD MONDO:0010570 NORD:1012 MONDO:NORD Craniofrontonasal Dysplasia NORD:1012 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1012 MONDO:NORD +MONDO:0010571 NORD:1539 MONDO:NORD Otopalatodigital Syndrome Type I and II NORD:1539 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1539 MONDO:NORD MONDO:0010568 NORD:745 MONDO:NORD NORD:745 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:745 MONDO:NORD MONDO:0010569 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010567 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010566 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010567 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010562 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010563 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010561 NORD:983 MONDO:NORD Coffin Lowry Syndrome NORD:983 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:983 MONDO:NORD MONDO:0010560 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010559 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010558 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010559 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010556 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010557 NORD:932 MONDO:NORD NORD:932 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:932 MONDO:NORD MONDO:0010555 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010554 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010551 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010550 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010551 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010549 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010547 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010548 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -7500,193 +7462,193 @@ MONDO:0010545 NORD:1489 MONDO:NORD NORD:1489 http://purl.obolibrary.org/obo/mon MONDO:0010544 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010542 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010543 NORD:840 MONDO:NORD NORD:840 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:840 MONDO:NORD +MONDO:0010540 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010541 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010539 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010540 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010538 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010537 NORD:866 MONDO:NORD Börjeson-Forssman-Lehman Syndrome NORD:866 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:866 MONDO:NORD -MONDO:0010534 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010535 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010534 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010533 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010532 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010529 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010526 NORD:1115 MONDO:NORD NORD:1115 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1115 MONDO:NORD -MONDO:0010524 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010523 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010524 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010520 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010519 NORD:753 MONDO:NORD Alpha Thalassemia 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MONDO:NORD +MONDO:0010514 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010510 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010511 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010508 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010509 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010506 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010507 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010505 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010506 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MONDO:NORD MONDO:0010373 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010371 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010367 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010370 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010364 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010363 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010362 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010361 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010359 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010356 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010362 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010358 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010359 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010355 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010356 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010354 NORD:1415 MONDO:NORD MCT8-Specific Thyroid Hormone Cell Transporter Deficiency NORD:1415 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1415 MONDO:NORD MONDO:0010353 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010351 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010352 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010350 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010347 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010349 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010350 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010344 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010347 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010338 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010337 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010336 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010335 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010332 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010329 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010328 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010329 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010327 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010326 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010325 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010324 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010322 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010325 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010320 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010322 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010319 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010317 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010314 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010315 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010313 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010314 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010311 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010302 NORD:1274 MONDO:NORD Hypomelanosis of Ito NORD:1274 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1274 MONDO:NORD MONDO:0010299 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010295 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010296 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010298 NORD:1365 MONDO:NORD Lesch Nyhan Syndrome NORD:1365 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1365 MONDO:NORD -MONDO:0010295 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010293 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010271 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010269 NORD:981 MONDO:NORD NORD:981 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:981 MONDO:NORD +MONDO:0010266 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010268 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010265 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010266 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010263 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010264 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http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010213 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010212 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010211 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010210 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010208 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010211 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010209 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010206 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010208 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010201 NORD:1857 MONDO:NORD NORD:1857 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1857 MONDO:NORD -MONDO:0010200 NORD:1856 MONDO:NORD NORD:1856 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1856 MONDO:NORD -MONDO:0010196 NORD:1845 MONDO:NORD NORD:1845 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1845 MONDO:NORD MONDO:0010197 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010200 NORD:1856 MONDO:NORD NORD:1856 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1856 MONDO:NORD MONDO:0010194 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010196 NORD:1845 MONDO:NORD NORD:1845 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1845 MONDO:NORD MONDO:0010193 NORD:1839 MONDO:NORD NORD:1839 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1839 MONDO:NORD MONDO:0010192 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010190 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010191 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010188 NORD:817 MONDO:NORD Ataxia with Vitamin E Deficiency NORD:817 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:817 MONDO:NORD -MONDO:0010187 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010186 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010187 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010185 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010184 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010183 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010181 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010179 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010180 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010181 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010178 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010179 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010176 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010173 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010171 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -7778,61 +7740,61 @@ MONDO:0010162 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0010161 NORD:1811 MONDO:NORD Tyrosinemia Type 1 NORD:1811 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1811 MONDO:NORD MONDO:0010160 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010159 NORD:1805 MONDO:NORD Turcot Syndrome NORD:1805 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1805 MONDO:NORD -MONDO:0010156 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010155 NORD:1283 MONDO:NORD Chanarin-Dorfman Syndrome NORD:1283 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1283 MONDO:NORD +MONDO:0010156 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010152 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010150 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010148 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010149 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010150 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010146 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010142 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010148 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010144 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010142 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010140 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010139 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010137 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010139 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010135 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010136 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010134 NORD:2030 MONDO:NORD NORD:2030 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2030 MONDO:NORD MONDO:0010132 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010133 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010131 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010130 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010131 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010127 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010122 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010121 NORD:1768 MONDO:NORD Thrombocytopenia Absent Radius Syndrome NORD:1768 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1768 MONDO:NORD +MONDO:0010122 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010120 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010117 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010111 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010112 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010114 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010111 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010110 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010105 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010108 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010102 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010105 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010101 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010102 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010100 NORD:1761 MONDO:NORD Tay Sachs Disease NORD:1761 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1761 MONDO:NORD -MONDO:0010099 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010097 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010099 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010094 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010092 NORD:1149 MONDO:NORD NORD:1149 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1149 MONDO:NORD -MONDO:0010091 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010090 NORD:1746 MONDO:NORD NORD:1746 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1746 MONDO:NORD -MONDO:0010089 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010091 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010088 NORD:1471 MONDO:NORD Multiple Sulfatase Deficiency NORD:1471 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1471 MONDO:NORD -MONDO:0010083 NORD:1904 MONDO:NORD NORD:1904 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1904 MONDO:NORD -MONDO:0010081 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010089 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010082 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010083 NORD:1904 MONDO:NORD NORD:1904 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1904 MONDO:NORD MONDO:0010080 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010081 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010079 NORD:886 MONDO:NORD NORD:886 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:886 MONDO:NORD -MONDO:0010078 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010077 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010078 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010075 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010076 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010074 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010072 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010073 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010070 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010074 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010069 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010070 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010066 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010068 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010061 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -7842,52 +7804,52 @@ MONDO:0010056 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0010049 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010047 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010046 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010044 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010043 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010044 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010039 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010041 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010038 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010036 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010035 NORD:1724 MONDO:NORD NORD:1724 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1724 MONDO:NORD +MONDO:0010036 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010033 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010031 NORD:1377 MONDO:NORD Senior-Løken Syndrome NORD:1377 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1377 MONDO:NORD MONDO:0010029 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010027 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010028 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010026 NORD:1710 MONDO:NORD NORD:1710 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1710 MONDO:NORD +MONDO:0010027 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010024 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010021 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010023 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010020 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010017 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010019 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010020 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010016 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010017 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010015 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010014 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010013 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010011 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010014 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010012 NORD:824 MONDO:NORD Autoimmune Polyendocrine Syndrome Type II NORD:824 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:824 MONDO:NORD MONDO:0010010 NORD:1694 MONDO:NORD Schinzel Giedion Syndrome NORD:1694 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1694 MONDO:NORD -MONDO:0010007 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010011 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010008 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010007 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010006 NORD:1688 MONDO:NORD NORD:1688 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1688 MONDO:NORD MONDO:0010002 NORD:1678 MONDO:NORD NORD:1678 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1678 MONDO:NORD MONDO:0010004 NORD:1079 MONDO:NORD Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate NORD:1079 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1079 MONDO:NORD -MONDO:0009998 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009999 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009996 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009998 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009994 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009996 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009993 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009987 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009988 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009990 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009987 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009984 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009985 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009979 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009983 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009975 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009978 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009974 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009975 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009973 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009971 NORD:1659 MONDO:NORD Respiratory Distress Syndrome, Infant NORD:1659 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1659 MONDO:NORD MONDO:0009968 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -7900,97 +7862,96 @@ MONDO:0009962 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0009955 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009958 NORD:1654 MONDO:NORD Refsum Disease NORD:1654 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1654 MONDO:NORD MONDO:0009954 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009953 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009952 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009953 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009950 NORD:1642 MONDO:NORD Pyruvate Kinase Deficiency NORD:1642 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1642 MONDO:NORD -MONDO:0009949 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009948 NORD:1276 MONDO:NORD Hypophosphatasia NORD:1276 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1276 MONDO:NORD -MONDO:0009947 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009949 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009946 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009947 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009945 NORD:1639 MONDO:NORD NORD:1639 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1639 MONDO:NORD MONDO:0009942 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009943 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009938 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009940 NORD:1637 MONDO:NORD NORD:1637 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1637 MONDO:NORD +MONDO:0009935 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009936 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009937 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009935 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009934 NORD:759 MONDO:NORD NORD:759 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:759 MONDO:NORD MONDO:0009931 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009933 NORD:1054 MONDO:NORD Diffuse Pulmonary Lymphangiomatosis NORD:1054 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1054 MONDO:NORD -MONDO:0009929 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009928 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009927 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009925 NORD:1629 MONDO:NORD Pseudoxanthoma Elasticum NORD:1629 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1629 MONDO:NORD MONDO:0009926 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009924 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009923 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009921 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009923 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009920 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009918 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009917 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009916 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009914 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009910 NORD:1852 MONDO:NORD Wiedemann Rautenstrauch Syndrome NORD:1852 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1852 MONDO:NORD -MONDO:0009905 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009914 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009906 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009904 NORD:1884 MONDO:NORD NORD:1884 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1884 MONDO:NORD +MONDO:0009905 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009903 NORD:1448 MONDO:NORD Miller Syndrome NORD:1448 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1448 MONDO:NORD MONDO:0009902 NORD:1599 MONDO:NORD Congenital Erythropoietic Porphyria NORD:1599 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1599 MONDO:NORD MONDO:0009900 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009901 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009895 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009897 NORD:1591 MONDO:NORD NORD:1591 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1591 MONDO:NORD -MONDO:0009894 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009893 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009894 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009892 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009890 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009891 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009889 NORD:831 MONDO:NORD NORD:831 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:831 MONDO:NORD MONDO:0009887 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009883 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009885 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009879 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009880 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009883 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009878 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009879 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009877 NORD:1209 MONDO:NORD Growth Hormone Insensitivity NORD:1209 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1209 MONDO:NORD -MONDO:0009874 NORD:1645 MONDO:NORD NORD:1645 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1645 MONDO:NORD MONDO:0009876 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009874 NORD:1645 MONDO:NORD NORD:1645 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1645 MONDO:NORD MONDO:0009872 NORD:859 MONDO:NORD Björnstad Syndrome NORD:859 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:859 MONDO:NORD -MONDO:0009871 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009870 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009871 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009869 NORD:1579 MONDO:NORD Pierre Robin Sequence NORD:1579 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1579 MONDO:NORD MONDO:0009868 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009867 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009866 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009865 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009863 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009862 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009861 NORD:1574 MONDO:NORD NORD:1574 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1574 MONDO:NORD -MONDO:0009857 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009862 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009856 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009857 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009855 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009852 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009853 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009849 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009846 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009848 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009849 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009845 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009846 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009843 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009844 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009842 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009841 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009842 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009839 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009837 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009835 NORD:1743 MONDO:NORD NORD:1743 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1743 MONDO:NORD -MONDO:0009832 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009837 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009833 NORD:1711 MONDO:NORD Shwachman Diamond Syndrome NORD:1711 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1711 MONDO:NORD -MONDO:0009824 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009832 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009825 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009823 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009824 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009822 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009820 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009823 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009821 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009820 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009817 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009818 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009816 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -7999,45 +7960,45 @@ MONDO:0009813 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0009809 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009806 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009805 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009804 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009800 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009801 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009804 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009798 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009800 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009797 NORD:1942 MONDO:NORD Hereditary Orotic Aciduria NORD:1942 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1942 MONDO:NORD -MONDO:0009796 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009795 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009796 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009794 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009793 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009787 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009786 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009785 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009786 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009781 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009779 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009777 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009779 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009775 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009773 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009774 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009772 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009773 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009770 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009768 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009769 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009770 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009767 NORD:1520 MONDO:NORD Oculocerebral Syndrome with Hypopigmentation NORD:1520 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1520 MONDO:NORD +MONDO:0009768 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009764 NORD:1517 MONDO:NORD NORD:1517 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1517 MONDO:NORD MONDO:0009760 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009759 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009756 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009755 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009749 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009751 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009748 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009749 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009747 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009746 NORD:1236 MONDO:NORD Hereditary Sensory and Autonomic Neuropathy Type IV NORD:1236 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1236 MONDO:NORD MONDO:0009745 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009742 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009744 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009740 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009738 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009742 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009737 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009738 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009736 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009734 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009735 NORD:1290 MONDO:NORD Ichthyosis, Netherton Syndrome NORD:1290 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1290 MONDO:NORD @@ -8047,28 +8008,28 @@ MONDO:0009728 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0009727 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009726 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009723 NORD:1355 MONDO:NORD NORD:1355 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1355 MONDO:NORD -MONDO:0009720 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009719 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009720 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009717 NORD:1697 MONDO:NORD Schwartz Jampel Syndrome NORD:1697 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1697 MONDO:NORD -MONDO:0009712 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009714 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009711 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009706 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009712 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009710 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009706 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009705 NORD:894 MONDO:NORD Carnitine Palmitoyltransferase 1A Deficiency NORD:894 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:894 MONDO:NORD MONDO:0009704 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009699 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009698 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009697 NORD:143373 MONDO:NORD NORD:143373 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:143373 MONDO:NORD MONDO:0009696 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009697 NORD:143373 MONDO:NORD NORD:143373 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:143373 MONDO:NORD MONDO:0009694 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009693 NORD:1469 MONDO:NORD Multiple Myeloma NORD:1469 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1469 MONDO:NORD MONDO:0009692 NORD:1611 MONDO:NORD NORD:1611 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1611 MONDO:NORD MONDO:0009691 NORD:1479 MONDO:NORD NORD:1479 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1479 MONDO:NORD MONDO:0009690 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009688 NORD:1478 MONDO:NORD NORD:1478 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1478 MONDO:NORD MONDO:0009689 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009685 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009688 NORD:1478 MONDO:NORD NORD:1478 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1478 MONDO:NORD MONDO:0009683 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009680 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009678 NORD:1169 MONDO:NORD Fukuyama Type Congenital Muscular Dystrophy NORD:1169 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1169 MONDO:NORD @@ -8078,174 +8039,174 @@ MONDO:0009675 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0009673 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009672 NORD:1342 MONDO:NORD Kugelberg Welander Syndrome NORD:1342 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1342 MONDO:NORD MONDO:0009670 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009669 NORD:1844 MONDO:NORD Werdnig-Hoffmann Disease NORD:1844 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1844 MONDO:NORD MONDO:0009668 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009669 NORD:1844 MONDO:NORD Werdnig-Hoffmann Disease NORD:1844 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1844 MONDO:NORD +MONDO:0009666 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009667 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009665 NORD:857 MONDO:NORD NORD:857 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:857 MONDO:NORD -MONDO:0009666 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009664 NORD:1465 MONDO:NORD NORD:1465 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1465 MONDO:NORD MONDO:0009662 NORD:1722 MONDO:NORD Mucopolysaccharidosis Type VII NORD:1722 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1722 MONDO:NORD MONDO:0009661 NORD:1405 MONDO:NORD Maroteaux Lamy Syndrome NORD:1405 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1405 MONDO:NORD MONDO:0009660 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009659 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009658 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009656 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009657 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009655 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009653 NORD:1460 MONDO:NORD Mucolipidosis IV NORD:1460 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1460 MONDO:NORD +MONDO:0009652 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009649 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009650 NORD:1279 MONDO:NORD I Cell Disease NORD:1279 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1279 MONDO:NORD -MONDO:0009648 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009647 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009648 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009646 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009644 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009643 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009642 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009636 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009635 NORD:1446 MONDO:NORD NORD:1446 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1446 MONDO:NORD -MONDO:0009629 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009630 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009627 NORD:1171 MONDO:NORD NORD:1171 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1171 MONDO:NORD +MONDO:0009629 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009626 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009624 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009623 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009622 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009620 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009619 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009618 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009617 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009618 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009615 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009614 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009613 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009612 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009611 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009612 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009610 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009609 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009607 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009605 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009606 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009604 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009605 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009603 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009599 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009601 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009598 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009597 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009595 NORD:1414 MONDO:NORD McKusick Type Metaphyseal Chondrodysplasia NORD:1414 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1414 MONDO:NORD -MONDO:0009593 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009598 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009594 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009595 NORD:1414 MONDO:NORD McKusick Type Metaphyseal Chondrodysplasia NORD:1414 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1414 MONDO:NORD MONDO:0009592 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009590 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009593 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009591 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009588 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009584 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009590 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009585 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009588 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009583 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009584 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009582 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009580 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009579 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009578 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009579 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009577 NORD:1424 MONDO:NORD Megalocornea Intellectual Disability Syndrome NORD:1424 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1424 MONDO:NORD MONDO:0009575 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009572 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009571 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009570 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009572 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009569 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009570 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009568 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009567 NORD:1406 MONDO:NORD Marshall Smith Syndrome NORD:1406 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1406 MONDO:NORD MONDO:0009564 NORD:1402 MONDO:NORD Marden Walker Syndrome NORD:1402 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1402 MONDO:NORD -MONDO:0009659 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009563 NORD:1400 MONDO:NORD NORD:1400 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1400 MONDO:NORD -MONDO:0009658 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009562 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009563 NORD:1400 MONDO:NORD NORD:1400 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1400 MONDO:NORD MONDO:0009561 NORD:755 MONDO:NORD NORD:755 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:755 MONDO:NORD -MONDO:0009657 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009558 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009560 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009656 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009557 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009558 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009655 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009556 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009554 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009653 NORD:1460 MONDO:NORD Mucolipidosis IV NORD:1460 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1460 MONDO:NORD MONDO:0009552 NORD:1428 MONDO:NORD Meleda Disease NORD:1428 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1428 MONDO:NORD -MONDO:0009652 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009554 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009550 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009549 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009548 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009549 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009544 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009539 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009540 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009539 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009537 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009533 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009532 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009530 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009532 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009529 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009528 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009526 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009527 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009524 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009528 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009525 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009524 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009522 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009520 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009517 NORD:1361 MONDO:NORD Leprechaunism NORD:1361 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1361 MONDO:NORD MONDO:0009515 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009514 NORD:1932 MONDO:NORD NORD:1932 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1932 MONDO:NORD MONDO:0009513 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009511 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009509 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009511 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009506 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009504 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009503 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009502 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009503 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009501 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009499 NORD:1368 MONDO:NORD Leukodystrophy, Krabbe's NORD:1368 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1368 MONDO:NORD MONDO:0009495 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009493 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009492 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009491 NORD:1212 MONDO:NORD NORD:1212 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1212 MONDO:NORD -MONDO:0009490 NORD:1552 MONDO:NORD Papillon Lefèvre Syndrome NORD:1552 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1552 MONDO:NORD +MONDO:0009492 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009489 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009490 NORD:1552 MONDO:NORD Papillon Lefèvre Syndrome NORD:1552 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1552 MONDO:NORD MONDO:0009486 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009484 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009485 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009483 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009484 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009479 NORD:1311 MONDO:NORD NORD:1311 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1311 MONDO:NORD MONDO:0009480 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009478 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009479 NORD:1311 MONDO:NORD NORD:1311 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1311 MONDO:NORD MONDO:0009477 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009476 NORD:1309 MONDO:NORD Jejunal Atresia NORD:1309 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1309 MONDO:NORD -MONDO:0009475 NORD:712 MONDO:NORD NORD:712 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:712 MONDO:NORD -MONDO:0009473 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009471 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009473 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009475 NORD:712 MONDO:NORD NORD:712 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:712 MONDO:NORD MONDO:0009470 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009469 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009468 NORD:1294 MONDO:NORD Idiopathic Intracranial Hypertension NORD:1294 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1294 MONDO:NORD MONDO:0009465 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009468 NORD:1294 MONDO:NORD Idiopathic Intracranial Hypertension NORD:1294 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1294 MONDO:NORD MONDO:0009461 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009459 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009458 NORD:1691 MONDO:NORD NORD:1691 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1691 MONDO:NORD +MONDO:0009459 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009454 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009452 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009451 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009448 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009443 NORD:1287 MONDO:NORD Harlequin Ichthyosis NORD:1287 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1287 MONDO:NORD MONDO:0009441 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009440 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009439 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009440 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009437 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009433 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009431 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009433 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009430 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009426 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009425 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009424 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009426 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009420 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009424 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009419 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009416 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009413 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009406 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009411 NORD:798 MONDO:NORD Autoimmune Polyglandular Syndrome Type 1 NORD:798 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:798 MONDO:NORD -MONDO:0009405 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009404 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009405 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009402 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009401 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009398 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009397 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009395 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009397 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009394 NORD:1230 MONDO:NORD Hereditary Hyperphosphatasia NORD:1230 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1230 MONDO:NORD MONDO:0009393 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009388 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8255,53 +8216,53 @@ MONDO:0009380 NORD:1063 MONDO:NORD Dubin Johnson Syndrome NORD:1063 http://purl. MONDO:0009378 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009379 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009377 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009376 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009372 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009373 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009376 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009370 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009371 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009372 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009369 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009370 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009367 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009365 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009364 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009360 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009365 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009361 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009359 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009360 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009356 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009353 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009354 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009352 NORD:1249 MONDO:NORD Homocystinuria due to Cystathionine Beta-Synthase Deficiency NORD:1249 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1249 MONDO:NORD -MONDO:0009353 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009349 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009348 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009346 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009345 NORD:1245 MONDO:NORD NORD:1245 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1245 MONDO:NORD -MONDO:0009341 NORD:1456 MONDO:NORD NORD:1456 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1456 MONDO:NORD MONDO:0009340 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009341 NORD:1456 MONDO:NORD NORD:1456 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1456 MONDO:NORD +MONDO:0009338 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009339 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009337 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009338 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009333 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009331 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009327 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009329 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009326 NORD:1218 MONDO:NORD NORD:1218 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1218 MONDO:NORD MONDO:0009324 NORD:1217 MONDO:NORD NORD:1217 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1217 MONDO:NORD +MONDO:0009326 NORD:1218 MONDO:NORD NORD:1218 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1218 MONDO:NORD MONDO:0009320 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009319 NORD:1550 MONDO:NORD NORD:1550 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1550 MONDO:NORD MONDO:0009318 NORD:1888 MONDO:NORD NORD:1888 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1888 MONDO:NORD -MONDO:0009315 NORD:1119 MONDO:NORD Factor XII Deficiency NORD:1119 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1119 MONDO:NORD MONDO:0009313 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009315 NORD:1119 MONDO:NORD Factor XII Deficiency NORD:1119 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1119 MONDO:NORD MONDO:0009312 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009310 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009308 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009309 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009310 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009306 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009302 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009308 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009303 NORD:1198 MONDO:NORD Goodpasture Syndrome NORD:1198 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1198 MONDO:NORD MONDO:0009301 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009302 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009299 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009300 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009297 NORD:1658 MONDO:NORD Renal Glycosuria NORD:1658 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1658 MONDO:NORD -MONDO:0009299 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009295 NORD:1196 MONDO:NORD Glycogen Storage Disease Type 7 NORD:1196 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1196 MONDO:NORD MONDO:0009294 NORD:1241 MONDO:NORD Glycogen Storage Disease Type VI NORD:1241 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1241 MONDO:NORD MONDO:0009293 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8315,209 +8276,209 @@ MONDO:0009283 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0009282 NORD:1192 MONDO:NORD Glutaric Aciduria Type II NORD:1192 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1192 MONDO:NORD MONDO:0009281 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009279 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009276 NORD:851 MONDO:NORD NORD:851 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:851 MONDO:NORD MONDO:0009275 NORD:1494 MONDO:NORD NORD:1494 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1494 MONDO:NORD +MONDO:0009276 NORD:851 MONDO:NORD NORD:851 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:851 MONDO:NORD MONDO:0009274 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009271 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009269 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009270 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009268 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009267 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009266 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009264 NORD:1176 MONDO:NORD NORD:1176 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1176 MONDO:NORD MONDO:0009265 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009266 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009263 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009264 NORD:1176 MONDO:NORD NORD:1176 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1176 MONDO:NORD MONDO:0009262 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009261 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009260 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009259 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009258 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009257 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009255 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009254 NORD:1168 MONDO:NORD NORD:1168 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1168 MONDO:NORD +MONDO:0009255 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009253 NORD:1167 MONDO:NORD NORD:1167 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1167 MONDO:NORD MONDO:0009252 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009249 NORD:1166 MONDO:NORD Fructose Intolerance, Hereditary NORD:1166 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1166 MONDO:NORD MONDO:0009247 NORD:1164 MONDO:NORD NORD:1164 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1164 MONDO:NORD -MONDO:0009242 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009241 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009242 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009240 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009238 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009239 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009236 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009235 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009236 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009234 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009232 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009231 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009232 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009230 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009229 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009227 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009226 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009227 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009224 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009223 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009222 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009221 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009222 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009218 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009216 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009215 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009214 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009215 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009213 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009212 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009211 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009210 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009212 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009209 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009210 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009205 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009206 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009204 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009205 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009203 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009197 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009198 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009196 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009197 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009192 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009194 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009191 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009192 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009189 NORD:1881 MONDO:NORD Recessive Multiple Epiphyseal Dysplasia NORD:1881 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1881 MONDO:NORD MONDO:0009185 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009183 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009182 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009181 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009180 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009181 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009179 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009177 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009178 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009176 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009177 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009175 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009173 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009174 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009169 NORD:1090 MONDO:NORD NORD:1090 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1090 MONDO:NORD MONDO:0009168 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009169 NORD:1090 MONDO:NORD NORD:1090 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1090 MONDO:NORD MONDO:0009166 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009167 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009165 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009162 NORD:1083 MONDO:NORD Ellis Van Creveld Syndrome NORD:1083 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1083 MONDO:NORD +MONDO:0009165 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009161 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009159 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009157 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009154 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009155 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009150 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009151 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009148 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009149 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009150 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009147 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009148 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009145 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009144 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009145 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009143 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009141 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009139 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009140 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009141 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009136 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009138 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009139 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009135 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009136 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009134 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009133 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009130 NORD:1068 MONDO:NORD Dyggve Melchior Clausen syndrome NORD:1068 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1068 MONDO:NORD +MONDO:0009134 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009131 NORD:1069 MONDO:NORD Dysautonomia, Familial NORD:1069 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1069 MONDO:NORD +MONDO:0009130 NORD:1068 MONDO:NORD Dyggve Melchior Clausen syndrome NORD:1068 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1068 MONDO:NORD MONDO:0009124 NORD:1064 MONDO:NORD NORD:1064 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1064 MONDO:NORD MONDO:0009126 NORD:1066 MONDO:NORD Duodenal Atresia or Stenosis NORD:1066 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1066 MONDO:NORD -MONDO:0009123 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009121 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009123 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009115 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009120 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009114 NORD:1056 MONDO:NORD NORD:1056 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1056 MONDO:NORD MONDO:0009113 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009112 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009111 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009110 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009109 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009110 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009107 NORD:1051 MONDO:NORD NORD:1051 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1051 MONDO:NORD MONDO:0009108 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009106 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009105 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009104 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009099 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009097 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009093 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009099 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009094 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009092 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009093 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009091 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009092 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009090 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009086 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009082 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009083 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009080 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009079 NORD:1058 MONDO:NORD NORD:1058 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1058 MONDO:NORD +MONDO:0009080 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009076 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009075 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009072 NORD:1032 MONDO:NORD Dandy Walker Malformation NORD:1032 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1032 MONDO:NORD MONDO:0009073 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009071 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009072 NORD:1032 MONDO:NORD Dandy Walker Malformation NORD:1032 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1032 MONDO:NORD MONDO:0009069 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009068 NORD:1030 MONDO:NORD Cytochrome C Oxidase Deficiency NORD:1030 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1030 MONDO:NORD -MONDO:0009067 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009066 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009067 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009064 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009063 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009061 NORD:1026 MONDO:NORD NORD:1026 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1026 MONDO:NORD -MONDO:0009055 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009054 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009052 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009055 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009053 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009050 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009052 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009049 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009050 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009046 NORD:1160 MONDO:NORD NORD:1160 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1160 MONDO:NORD MONDO:0009044 NORD:1016 MONDO:NORD Crigler Najjar Syndrome NORD:1016 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1016 MONDO:NORD +MONDO:0009042 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009043 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009039 NORD:834 MONDO:NORD NORD:834 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:834 MONDO:NORD -MONDO:0009042 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009034 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009035 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009036 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009034 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009033 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009028 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009031 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009032 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009028 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009026 NORD:1011 MONDO:NORD NORD:1011 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1011 MONDO:NORD MONDO:0009025 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009021 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009020 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009019 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009016 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009015 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009016 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009010 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009012 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009009 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009008 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009009 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009007 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009003 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008999 NORD:986 MONDO:NORD NORD:986 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:986 MONDO:NORD MONDO:0009000 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008998 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008999 NORD:986 MONDO:NORD NORD:986 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:986 MONDO:NORD MONDO:0008995 NORD:1875 MONDO:NORD Yunis Varon Syndrome NORD:1875 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1875 MONDO:NORD MONDO:0008992 NORD:1531 MONDO:NORD Orocraniodigital Syndrome NORD:1531 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1531 MONDO:NORD MONDO:0008990 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008988 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008981 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008982 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008980 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008979 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008980 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008977 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008978 NORD:931 MONDO:NORD NORD:931 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:931 MONDO:NORD MONDO:0008975 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008973 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008974 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008972 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008971 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008972 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008970 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008967 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008966 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008967 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008965 NORD:920 MONDO:NORD NORD:920 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:920 MONDO:NORD MONDO:0008964 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008963 NORD:921 MONDO:NORD Chediak Higashi Syndrome NORD:921 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:921 MONDO:NORD MONDO:0008962 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008963 NORD:921 MONDO:NORD Chediak Higashi Syndrome NORD:921 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:921 MONDO:NORD MONDO:0008961 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008960 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008958 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008960 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008954 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008955 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008948 NORD:915 MONDO:NORD NORD:915 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:915 MONDO:NORD @@ -8525,10 +8486,10 @@ MONDO:0008953 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0008947 NORD:1127 MONDO:NORD Primary Familial Brain Calcification NORD:1127 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1127 MONDO:NORD MONDO:0008944 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008943 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008939 NORD:910 MONDO:NORD Cerebellar Agenesis NORD:910 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:910 MONDO:NORD MONDO:0008938 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008935 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008939 NORD:910 MONDO:NORD Cerebellar Agenesis NORD:910 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:910 MONDO:NORD MONDO:0008934 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008935 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008931 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008926 NORD:913 MONDO:NORD Cerebro Oculo Facio Skeletal Syndrome NORD:913 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:913 MONDO:NORD MONDO:0008927 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8536,76 +8497,76 @@ MONDO:0008925 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0008922 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008923 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008921 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008919 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008918 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008915 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008919 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008911 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008915 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008908 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008907 NORD:1585 MONDO:NORD PMM2-CDG NORD:1585 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1585 MONDO:NORD MONDO:0008905 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008901 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008899 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008900 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008898 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008896 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008898 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008894 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008895 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008892 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008893 NORD:882 MONDO:NORD NORD:882 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:882 MONDO:NORD MONDO:0008891 NORD:1960 MONDO:NORD NORD:1960 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1960 MONDO:NORD -MONDO:0008892 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008890 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008888 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008889 NORD:880 MONDO:NORD Buerger's Disease NORD:880 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:880 MONDO:NORD -MONDO:0008887 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008885 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008887 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008881 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008878 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008879 NORD:869 MONDO:NORD Bowen Hutterite Syndrome NORD:869 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:869 MONDO:NORD MONDO:0008877 NORD:864 MONDO:NORD NORD:864 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:864 MONDO:NORD -MONDO:0008876 NORD:863 MONDO:NORD NORD:863 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:863 MONDO:NORD MONDO:0008875 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008876 NORD:863 MONDO:NORD NORD:863 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:863 MONDO:NORD MONDO:0008873 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008872 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008871 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008872 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008869 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008867 NORD:1114 MONDO:NORD NORD:1114 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1114 MONDO:NORD MONDO:0008866 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008867 NORD:1114 MONDO:NORD NORD:1114 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1114 MONDO:NORD MONDO:0008864 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008865 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008863 NORD:1911 MONDO:NORD NORD:1911 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1911 MONDO:NORD MONDO:0008858 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008855 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008854 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008855 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008853 NORD:875 MONDO:NORD Brown Séquard Syndrome NORD:875 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:875 MONDO:NORD -MONDO:0008849 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008847 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008849 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008846 NORD:819 MONDO:NORD NORD:819 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:819 MONDO:NORD MONDO:0008842 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008840 NORD:816 MONDO:NORD NORD:816 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:816 MONDO:NORD MONDO:0008838 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008832 NORD:1305 MONDO:NORD Ivemark Syndrome NORD:1305 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1305 MONDO:NORD -MONDO:0008831 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008830 NORD:813 MONDO:NORD Aspartylglycosaminuria NORD:813 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:813 MONDO:NORD +MONDO:0008831 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008829 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008828 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008827 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008828 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008825 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008823 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008824 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008822 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008818 NORD:803 MONDO:NORD NORD:803 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:803 MONDO:NORD -MONDO:0008817 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008822 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008816 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008817 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008815 NORD:802 MONDO:NORD NORD:802 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:802 MONDO:NORD -MONDO:0008814 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008812 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008810 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008814 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008811 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008810 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008803 NORD:792 MONDO:NORD NORD:792 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:792 MONDO:NORD MONDO:0008800 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008799 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008798 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008797 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008798 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008792 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008795 NORD:786 MONDO:NORD Aniridia Cerebellar Ataxia Mental Deficiency NORD:786 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:786 MONDO:NORD MONDO:0008791 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8613,88 +8574,88 @@ MONDO:0008788 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0008786 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008787 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008785 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008783 NORD:1757 MONDO:NORD NORD:1757 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1757 MONDO:NORD MONDO:0008781 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008782 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008783 NORD:1757 MONDO:NORD NORD:1757 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1757 MONDO:NORD MONDO:0008780 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008777 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008774 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008771 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008769 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008768 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008767 NORD:843 MONDO:NORD Juvenile CLN3 Disease NORD:843 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:843 MONDO:NORD +MONDO:0008768 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008765 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008763 NORD:757 MONDO:NORD Alström Syndrome NORD:757 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:757 MONDO:NORD MONDO:0008764 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008762 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008760 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008763 NORD:757 MONDO:NORD Alström Syndrome NORD:757 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:757 MONDO:NORD MONDO:0008759 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008758 NORD:752 MONDO:NORD Alpers Disease NORD:752 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:752 MONDO:NORD +MONDO:0008760 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008757 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008758 NORD:752 MONDO:NORD Alpers Disease NORD:752 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:752 MONDO:NORD MONDO:0008755 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008756 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008754 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008753 NORD:750 MONDO:NORD NORD:750 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:750 MONDO:NORD +MONDO:0008754 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008752 NORD:749 MONDO:NORD NORD:749 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:749 MONDO:NORD MONDO:0008751 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008749 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008748 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008749 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008747 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008746 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008745 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008746 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008744 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008742 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008741 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008740 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008736 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008742 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008737 NORD:739 MONDO:NORD NORD:739 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:739 MONDO:NORD +MONDO:0008740 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008734 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008735 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008736 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008732 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008733 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008730 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008729 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008728 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008727 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008726 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008724 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008728 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008725 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008726 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008723 NORD:1827 MONDO:NORD Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD) NORD:1827 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1827 MONDO:NORD +MONDO:0008724 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008722 NORD:1709 MONDO:NORD Short Chain Acyl CoA Dehydrogenase Deficiency NORD:1709 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1709 MONDO:NORD MONDO:0008720 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008717 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008718 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008716 NORD:1202 MONDO:NORD Gottron Syndrome NORD:1202 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1202 MONDO:NORD +MONDO:0008717 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008714 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008715 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008713 NORD:721 MONDO:NORD NORD:721 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:721 MONDO:NORD -MONDO:0008714 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008710 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008709 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008708 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008706 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008709 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008707 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008706 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008704 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008703 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008702 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008703 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008701 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008699 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008700 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008696 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008695 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008696 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008693 NORD:704 MONDO:NORD Ablepharon-Macrostomia Syndrome NORD:704 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:704 MONDO:NORD MONDO:0008692 NORD:703 MONDO:NORD NORD:703 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:703 MONDO:NORD MONDO:0008690 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008689 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008688 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008689 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008686 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008683 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008684 NORD:1859 MONDO:NORD NORD:1859 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1859 MONDO:NORD +MONDO:0008683 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008682 NORD:1044 MONDO:NORD NORD:1044 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1044 MONDO:NORD MONDO:0008681 NORD:1833 MONDO:NORD WAGR Syndrome/11p Deletion Syndrome NORD:1833 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1833 MONDO:NORD -MONDO:0008680 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008679 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008678 NORD:1854 MONDO:NORD NORD:1854 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1854 MONDO:NORD +MONDO:0008680 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008676 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008678 NORD:1854 MONDO:NORD NORD:1854 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1854 MONDO:NORD MONDO:0008675 NORD:1161 MONDO:NORD Freeman Sheldon Syndrome NORD:1161 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1161 MONDO:NORD MONDO:0008673 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008670 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8702,99 +8663,99 @@ MONDO:0008668 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0008667 NORD:1830 MONDO:NORD NORD:1830 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1830 MONDO:NORD MONDO:0008662 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008663 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008659 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008660 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008653 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008659 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008652 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008653 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008648 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008647 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008644 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008642 NORD:1818 MONDO:NORD VACTERL Association NORD:1818 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1818 MONDO:NORD +MONDO:0008644 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008641 NORD:1910 MONDO:NORD NORD:1910 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1910 MONDO:NORD MONDO:0008633 NORD:1459 MONDO:NORD NORD:1459 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1459 MONDO:NORD MONDO:0008622 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008621 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008619 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008620 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008621 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008618 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008619 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008612 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008610 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008607 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008599 NORD:1791 MONDO:NORD NORD:1791 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1791 MONDO:NORD MONDO:0008603 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008596 NORD:1787 MONDO:NORD NORD:1787 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1787 MONDO:NORD +MONDO:0008599 NORD:1791 MONDO:NORD NORD:1791 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1791 MONDO:NORD MONDO:0008597 NORD:1789 MONDO:NORD Trichorhinophalangeal Syndrome Type III NORD:1789 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1789 MONDO:NORD MONDO:0008594 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008596 NORD:1787 MONDO:NORD NORD:1787 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1787 MONDO:NORD MONDO:0008592 NORD:1786 MONDO:NORD Tricho Dento Osseous Syndrome NORD:1786 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1786 MONDO:NORD MONDO:0008588 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008586 NORD:1108 MONDO:NORD Esophageal Atresia and/or Tracheoesophageal Fistula NORD:1108 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1108 MONDO:NORD MONDO:0008583 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008585 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008582 NORD:1777 MONDO:NORD NORD:1777 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1777 MONDO:NORD -MONDO:0008571 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008572 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008567 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008571 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008565 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008566 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008564 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008562 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008563 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008564 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008560 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008562 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008559 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008558 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008557 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008556 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008555 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008553 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008557 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008554 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008555 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008552 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008551 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008553 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008547 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008551 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008545 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008546 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008544 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008542 NORD:1764 MONDO:NORD NORD:1764 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1764 MONDO:NORD +MONDO:0008544 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008538 NORD:805 MONDO:NORD Giant Cell Arteritis NORD:805 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:805 MONDO:NORD MONDO:0008535 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008534 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008521 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008523 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008520 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008521 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008519 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008518 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008516 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008515 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008516 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008514 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008513 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008512 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008513 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008511 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008509 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008503 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008504 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008509 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008502 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008503 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008501 NORD:1741 MONDO:NORD Sturge Weber Syndrome NORD:1741 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1741 MONDO:NORD MONDO:0008497 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008499 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008495 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008494 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008495 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008492 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008493 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008491 NORD:1740 MONDO:NORD Stiff Person Syndrome NORD:1740 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1740 MONDO:NORD -MONDO:0008490 NORD:1533 MONDO:NORD OSMED, Heterozygous NORD:1533 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1533 MONDO:NORD -MONDO:0008488 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008486 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008488 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008490 NORD:1533 MONDO:NORD OSMED, Heterozygous NORD:1533 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1533 MONDO:NORD MONDO:0008485 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008484 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008479 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008482 NORD:1736 MONDO:NORD NORD:1736 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1736 MONDO:NORD MONDO:0008478 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008479 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008477 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008476 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008474 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008477 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008473 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008474 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008471 NORD:1733 MONDO:NORD Spondyloepiphyseal Dysplasia, Congenital NORD:1733 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1733 MONDO:NORD -MONDO:0008469 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008467 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008469 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008466 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008464 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008465 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8807,67 +8768,68 @@ MONDO:0008447 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0008445 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008438 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008437 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008436 NORD:1726 MONDO:NORD NORD:1726 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1726 MONDO:NORD MONDO:0008434 NORD:1725 MONDO:NORD Smith Magenis Syndrome NORD:1725 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1725 MONDO:NORD -MONDO:0008429 NORD:1718 MONDO:NORD Singleton Merten syndrome NORD:1718 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1718 MONDO:NORD +MONDO:0008436 NORD:1726 MONDO:NORD NORD:1726 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1726 MONDO:NORD +MONDO:0008433 Small cell lung cancer http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008428 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008429 NORD:1718 MONDO:NORD Singleton Merten syndrome NORD:1718 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1718 MONDO:NORD MONDO:0008426 NORD:1908 MONDO:NORD Shprintzen Goldberg Syndrome NORD:1908 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1908 MONDO:NORD -MONDO:0008422 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008425 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008422 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008416 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008411 NORD:1695 MONDO:NORD Schinzel Syndrome NORD:1695 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1695 MONDO:NORD MONDO:0008410 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008409 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008408 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008407 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008408 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008403 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008404 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008402 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008403 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008401 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008397 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008396 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008395 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008396 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008394 NORD:1683 MONDO:NORD Russell-Silver Syndrome NORD:1683 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1683 MONDO:NORD MONDO:0008393 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008392 NORD:1679 MONDO:NORD Roussy Lévy Syndrome NORD:1679 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1679 MONDO:NORD +MONDO:0008388 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008389 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008390 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008388 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008386 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008387 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008381 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008378 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008386 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008379 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008381 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008377 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008378 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008374 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008371 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008372 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008373 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008371 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008369 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008368 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008365 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008359 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008357 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008358 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008359 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008353 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008348 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008357 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008346 NORD:91174 MONDO:NORD Idiopathic Pulmonary Hemosiderosis NORD:91174 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:91174 MONDO:NORD +MONDO:0008348 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008343 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008340 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008339 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008337 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008338 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008335 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008332 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008329 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008322 NORD:1625 MONDO:NORD NORD:1625 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1625 MONDO:NORD +MONDO:0008332 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008323 NORD:2034 MONDO:NORD NORD:2034 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2034 MONDO:NORD MONDO:0008319 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008322 NORD:1625 MONDO:NORD NORD:1625 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1625 MONDO:NORD MONDO:0008318 NORD:1622 MONDO:NORD NORD:1622 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1622 MONDO:NORD MONDO:0008316 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008311 NORD:1473 MONDO:NORD Mulvihill-Smith Syndrome NORD:1473 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1528 MONDO:NORD @@ -8968,25 +8930,25 @@ MONDO:0008137 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0008134 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008131 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008133 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008124 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008123 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008124 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008119 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008116 NORD:1523 MONDO:NORD NORD:1523 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1523 MONDO:NORD MONDO:0008118 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008115 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008113 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008108 NORD:1521 MONDO:NORD NORD:1521 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1521 MONDO:NORD MONDO:0008111 NORD:1519 MONDO:NORD Oculo-Dento-Digital Dysplasia NORD:1519 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1519 MONDO:NORD MONDO:0008104 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008098 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008108 NORD:1521 MONDO:NORD NORD:1521 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1521 MONDO:NORD MONDO:0008101 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008098 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008097 NORD:1692 MONDO:NORD Nevus Sebaceus Syndrome NORD:1692 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1692 MONDO:NORD MONDO:0008094 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008093 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008092 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008093 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008090 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008087 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008086 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008087 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008083 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008082 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008080 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8998,210 +8960,209 @@ MONDO:0008069 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0008071 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008062 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008061 NORD:1488 MONDO:NORD Nail Patella Syndrome NORD:1488 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1488 MONDO:NORD -MONDO:0008060 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008059 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008060 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008056 NORD:1075 MONDO:NORD Myotonic Dystrophy NORD:1075 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1075 MONDO:NORD -MONDO:0008054 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008051 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008054 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008050 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008048 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008047 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008045 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008044 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008045 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008041 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008043 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008040 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008038 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008039 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008031 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008030 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008026 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008031 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008025 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008026 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008023 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008024 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008019 NORD:1858 MONDO:NORD WNT4 Deficiency NORD:1858 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1858 MONDO:NORD -MONDO:0008023 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008018 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008017 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008018 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008016 NORD:1795 MONDO:NORD NORD:1795 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1795 MONDO:NORD MONDO:0008013 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008009 NORD:1454 MONDO:NORD NORD:1454 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1454 MONDO:NORD MONDO:0008008 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008009 NORD:1454 MONDO:NORD NORD:1454 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1454 MONDO:NORD MONDO:0008006 NORD:1453 MONDO:NORD Moebius Syndrome NORD:1453 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1453 MONDO:NORD MONDO:0008005 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008002 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008004 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008003 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008002 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007999 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007993 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007994 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007995 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007993 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007990 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007989 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007988 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007986 NORD:1445 MONDO:NORD Metatropic Dysplasia I NORD:1445 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1445 MONDO:NORD +MONDO:0007990 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007987 NORD:1339 MONDO:NORD NORD:1339 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1339 MONDO:NORD +MONDO:0007988 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007984 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007983 NORD:1444 MONDO:NORD Metaphyseal Chondrodysplasia, Schmid Type NORD:1444 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1444 MONDO:NORD -MONDO:0007979 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007986 NORD:1445 MONDO:NORD Metatropic Dysplasia I NORD:1445 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1445 MONDO:NORD MONDO:0007982 NORD:1307 MONDO:NORD Jansen Type Metaphyseal Chondrodysplasia NORD:1307 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1307 MONDO:NORD +MONDO:0007983 NORD:1444 MONDO:NORD Metaphyseal Chondrodysplasia, Schmid Type NORD:1444 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1444 MONDO:NORD MONDO:0007977 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007972 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007979 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007975 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007970 NORD:1431 MONDO:NORD NORD:1431 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1431 MONDO:NORD MONDO:0007971 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007972 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007969 NORD:1429 MONDO:NORD NORD:1429 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1429 MONDO:NORD MONDO:0007965 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007967 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007964 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007962 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007964 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007961 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007959 NORD:1422 MONDO:NORD NORD:1422 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1422 MONDO:NORD MONDO:0007958 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007959 NORD:1422 MONDO:NORD NORD:1422 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1422 MONDO:NORD MONDO:0007956 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007950 NORD:1408 MONDO:NORD NORD:1408 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1408 MONDO:NORD MONDO:0007953 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007949 NORD:1407 MONDO:NORD NORD:1407 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1407 MONDO:NORD +MONDO:0007950 NORD:1408 MONDO:NORD NORD:1408 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1408 MONDO:NORD MONDO:0007947 NORD:1403 MONDO:NORD NORD:1403 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1403 MONDO:NORD -MONDO:0007946 NORD:1401 MONDO:NORD Marcus Gunn Phenomenon NORD:1401 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1401 MONDO:NORD MONDO:0007944 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007946 NORD:1401 MONDO:NORD Marcus Gunn Phenomenon NORD:1401 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1401 MONDO:NORD MONDO:0007943 NORD:1487 MONDO:NORD Nager Syndrome NORD:1487 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1487 MONDO:NORD -MONDO:0007938 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007937 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007934 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007938 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007935 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007933 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007934 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007932 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007930 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007931 NORD:853 MONDO:NORD Best Vitelliform Macular Dystrophy NORD:853 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:853 MONDO:NORD MONDO:0007927 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007930 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007925 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007924 NORD:1684 MONDO:NORD NORD:1684 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1684 MONDO:NORD MONDO:0007921 NORD:1874 MONDO:NORD NORD:1874 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1874 MONDO:NORD MONDO:0007922 NORD:1383 MONDO:NORD NORD:1383 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1383 MONDO:NORD MONDO:0007920 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007919 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007918 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007916 NORD:1609 MONDO:NORD NORD:1609 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1609 MONDO:NORD +MONDO:0007918 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007915 NORD:1380 MONDO:NORD Lupus NORD:1380 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1380 MONDO:NORD MONDO:0007909 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007907 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007908 NORD:1392 MONDO:NORD Madelung's Disease NORD:1392 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1392 MONDO:NORD -MONDO:0007906 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007904 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007896 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007906 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007895 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007896 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007894 NORD:1364 MONDO:NORD NORD:1364 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1364 MONDO:NORD -MONDO:0007893 NORD:1360 MONDO:NORD NORD:1360 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1360 MONDO:NORD MONDO:0007892 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007893 NORD:1360 MONDO:NORD NORD:1360 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1360 MONDO:NORD MONDO:0007891 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007887 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007888 NORD:1231 MONDO:NORD Hereditary Leiomyomatosis and Renal Cell Carcinoma NORD:1231 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1231 MONDO:NORD MONDO:0007886 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007885 NORD:1353 MONDO:NORD Legg Calvé Perthes Disease NORD:1353 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1353 MONDO:NORD -MONDO:0007881 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007879 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007880 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007881 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007878 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007879 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007875 NORD:1349 MONDO:NORD NORD:1349 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1349 MONDO:NORD MONDO:0007876 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007874 NORD:1788 MONDO:NORD NORD:1788 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1788 MONDO:NORD MONDO:0007872 NORD:1345 MONDO:NORD NORD:1345 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1345 MONDO:NORD -MONDO:0007871 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007874 NORD:1788 MONDO:NORD NORD:1788 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1788 MONDO:NORD MONDO:0007868 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007871 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007866 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007864 NORD:1337 MONDO:NORD Klippel-Trenaunay Syndrome NORD:1337 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1337 MONDO:NORD MONDO:0007862 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007863 NORD:1334 MONDO:NORD NORD:1334 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1334 MONDO:NORD -MONDO:0007861 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007859 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007860 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007861 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007858 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007859 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007857 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007854 NORD:1286 MONDO:NORD NORD:1286 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1286 MONDO:NORD MONDO:0007856 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007853 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007854 NORD:1286 MONDO:NORD NORD:1286 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1286 MONDO:NORD -MONDO:0007852 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007850 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007851 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007852 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007846 NORD:1322 MONDO:NORD NORD:1322 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1322 MONDO:NORD MONDO:0007848 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007843 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007846 NORD:1322 MONDO:NORD NORD:1322 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1322 MONDO:NORD MONDO:0007841 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007838 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007839 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007837 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007838 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007836 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007827 NORD:1734 MONDO:NORD Sporadic Inclusion Body Myositis NORD:1734 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1734 MONDO:NORD MONDO:0007829 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007820 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007819 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007813 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007820 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007814 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007812 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007813 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007808 NORD:1281 MONDO:NORD Ichthyosis Hystrix, Curth Macklin Type NORD:1281 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1281 MONDO:NORD -MONDO:0007805 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007804 NORD:1545 MONDO:NORD NORD:1545 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1545 MONDO:NORD +MONDO:0007805 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007802 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007803 NORD:1472 MONDO:NORD NORD:1472 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1472 MONDO:NORD MONDO:0007800 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007797 NORD:837 MONDO:NORD Barakat Syndrome NORD:837 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:837 MONDO:NORD -MONDO:0007795 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007796 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007794 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007795 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007793 NORD:1271 MONDO:NORD NORD:1271 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1271 MONDO:NORD MONDO:0007792 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007791 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007788 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007790 NORD:1037 MONDO:NORD Dejerine-Sottas Syndrome NORD:1037 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1037 MONDO:NORD MONDO:0007787 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007784 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007788 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007776 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007784 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007772 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007771 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007767 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007768 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007766 NORD:1268 MONDO:NORD Hyperostosis Frontalis Interna NORD:1268 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1268 MONDO:NORD MONDO:0007765 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007764 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007763 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007764 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007762 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007758 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007756 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007757 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007756 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007747 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007748 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007744 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007739 NORD:1256 MONDO:NORD Huntington's Disease NORD:1256 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1256 MONDO:NORD MONDO:0007740 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007739 NORD:1256 MONDO:NORD Huntington's Disease NORD:1256 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1256 MONDO:NORD +MONDO:0007735 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007737 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007738 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007735 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007733 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007734 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007732 NORD:1248 MONDO:NORD Holt Oram Syndrome NORD:1248 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1248 MONDO:NORD +MONDO:0007733 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007727 NORD:1804 MONDO:NORD Tumor Necrosis Factor Receptor-Associated Periodic Syndrome NORD:1804 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1804 MONDO:NORD MONDO:0007726 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007725 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007718 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007716 NORD:1879 MONDO:NORD ATR-16 Syndrome NORD:1879 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1879 MONDO:NORD MONDO:0007713 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007712 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007711 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007710 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007712 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007708 NORD:1320 MONDO:NORD Kasabach-Merritt Phenomenon NORD:1320 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1320 MONDO:NORD +MONDO:0007710 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007702 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007705 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007701 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007700 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007701 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007698 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007693 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007691 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007690 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007693 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007688 NORD:1481 MONDO:NORD NORD:1481 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1481 MONDO:NORD +MONDO:0007690 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007686 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007681 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007680 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007679 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007680 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007672 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007670 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007671 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9209,78 +9170,77 @@ MONDO:0007669 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0007667 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007662 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007660 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007656 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007653 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007652 NORD:1432 MONDO:NORD Menetrier Disease NORD:1432 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1432 MONDO:NORD +MONDO:0007656 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007651 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007652 NORD:1432 MONDO:NORD Menetrier Disease NORD:1432 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1432 MONDO:NORD MONDO:0007650 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007648 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007646 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007642 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007644 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007640 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007642 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007639 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007637 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007639 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007635 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007636 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007631 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007630 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007631 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007627 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007626 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007621 NORD:1151 MONDO:NORD Floating Harbor Syndrome NORD:1151 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1151 MONDO:NORD MONDO:0007620 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007618 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007619 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007617 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007618 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007615 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007617 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007614 NORD:997 MONDO:NORD Congenital Fibrosis of the Extraocular Muscles NORD:997 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:997 MONDO:NORD MONDO:0007612 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007610 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007609 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007610 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007608 NORD:1049 MONDO:NORD NORD:1049 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1049 MONDO:NORD -MONDO:0007606 NORD:1143 MONDO:NORD NORD:1143 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1143 MONDO:NORD MONDO:0007604 NORD:1136 MONDO:NORD Femoral Facial Syndrome NORD:1136 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1136 MONDO:NORD +MONDO:0007606 NORD:1143 MONDO:NORD NORD:1143 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1143 MONDO:NORD MONDO:0007601 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007603 NORD:1135 MONDO:NORD NORD:1135 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1135 MONDO:NORD -MONDO:0007595 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007590 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007592 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007595 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007589 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007587 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007590 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007586 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007587 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007585 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007574 NORD:1105 MONDO:NORD Erythrokeratodermia with Ataxia NORD:1105 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1105 MONDO:NORD -MONDO:0007572 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007571 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007572 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007570 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007568 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007566 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007565 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007564 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007565 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007562 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007561 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007560 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007558 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007556 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007558 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007555 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007554 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007552 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007554 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007551 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007550 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007549 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007546 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007548 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007546 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007542 NORD:885 MONDO:NORD NORD:885 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:885 MONDO:NORD -MONDO:0007540 NORD:1466 MONDO:NORD NORD:1466 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1466 MONDO:NORD MONDO:0007539 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007537 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007540 NORD:1466 MONDO:NORD NORD:1466 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1466 MONDO:NORD MONDO:0007536 NORD:1085 MONDO:NORD Emphysema, Congenital Lobar NORD:1085 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1085 MONDO:NORD -MONDO:0007533 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007537 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007534 NORD:845 MONDO:NORD NORD:845 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:845 MONDO:NORD +MONDO:0007533 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007529 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007527 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007526 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007525 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007522 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007519 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007520 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9300,63 +9260,63 @@ MONDO:0007486 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0007485 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007481 NORD:1070 MONDO:NORD NORD:1070 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1070 MONDO:NORD MONDO:0007478 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007477 NORD:1767 MONDO:NORD Three M Syndrome NORD:1767 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1767 MONDO:NORD MONDO:0007473 NORD:1062 MONDO:NORD Duane syndrome NORD:1062 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1062 MONDO:NORD +MONDO:0007477 NORD:1767 MONDO:NORD Three M Syndrome NORD:1767 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1767 MONDO:NORD MONDO:0007471 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007470 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007458 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007470 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007453 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007451 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007452 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007450 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007449 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007447 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007450 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007445 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007447 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007442 NORD:1043 MONDO:NORD Dentinogenesis Imperfecta Type III NORD:1043 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1043 MONDO:NORD MONDO:0007443 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007441 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007437 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007436 NORD:1041 MONDO:NORD NORD:1041 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1041 MONDO:NORD MONDO:0007435 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007436 NORD:1041 MONDO:NORD NORD:1041 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1041 MONDO:NORD +MONDO:0007432 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007434 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007429 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007432 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007424 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007422 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007424 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007420 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007417 NORD:1329 MONDO:NORD Keratosis Follicularis NORD:1329 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1329 MONDO:NORD MONDO:0007415 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007414 NORD:1200 MONDO:NORD NORD:1200 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1200 MONDO:NORD -MONDO:0007412 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007411 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007410 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007411 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007412 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007407 NORD:1452 MONDO:NORD Mixed Cryoglobulinemia NORD:1452 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1452 MONDO:NORD MONDO:0007405 NORD:1018 MONDO:NORD NORD:1018 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1018 MONDO:NORD MONDO:0007404 NORD:1015 MONDO:NORD Cri du Chat Syndrome NORD:1015 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1015 MONDO:NORD -MONDO:0007403 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007401 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007400 NORD:1306 MONDO:NORD NORD:1306 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1306 MONDO:NORD +MONDO:0007403 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007399 NORD:1606 MONDO:NORD Primary Craniosynostosis NORD:1606 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1606 MONDO:NORD +MONDO:0007400 NORD:1306 MONDO:NORD NORD:1306 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1306 MONDO:NORD MONDO:0007397 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007395 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007387 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007388 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007389 NORD:1915 MONDO:NORD Spondylothoracic Dysplasia NORD:1915 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1915 MONDO:NORD -MONDO:0007387 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007384 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007385 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007382 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007381 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007380 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007379 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007380 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007378 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007377 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007376 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007377 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007375 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007374 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007369 NORD:1228 MONDO:NORD NORD:1228 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1228 MONDO:NORD -MONDO:0007366 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007368 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007369 NORD:1228 MONDO:NORD NORD:1228 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1228 MONDO:NORD MONDO:0007364 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007366 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007363 NORD:844 MONDO:NORD NORD:844 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:844 MONDO:NORD MONDO:0007362 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007356 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9365,32 +9325,32 @@ MONDO:0007355 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0007353 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007351 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007352 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007346 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007349 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007346 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007344 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007345 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007343 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007340 NORD:978 MONDO:NORD Cleidocranial Dysplasia NORD:978 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:978 MONDO:NORD MONDO:0007339 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007338 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007337 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007338 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007334 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007332 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007329 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007330 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007332 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007325 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007322 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007329 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007321 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007322 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007319 NORD:930 MONDO:NORD Familial Calcium Pyrophosphate Deposition Disease NORD:930 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:930 MONDO:NORD MONDO:0007318 NORD:748 MONDO:NORD NORD:748 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:748 MONDO:NORD -MONDO:0007316 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007313 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007315 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007316 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007311 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007309 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007308 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007307 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007306 NORD:1336 MONDO:NORD Klippel-Feil Syndrome NORD:1336 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1336 MONDO:NORD +MONDO:0007307 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007300 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007301 NORD:914 MONDO:NORD NORD:914 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:914 MONDO:NORD MONDO:0007298 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9398,94 +9358,94 @@ MONDO:0007296 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0007297 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007295 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007294 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007293 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007289 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007290 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007293 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007288 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007289 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007286 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007287 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007284 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007286 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007282 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007283 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007280 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007278 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007279 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007276 NORD:899 MONDO:NORD Cat Eye Syndrome NORD:899 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:899 MONDO:NORD -MONDO:0007273 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007271 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007273 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007272 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007270 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007269 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007268 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007269 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007266 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007267 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007265 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007266 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007259 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007257 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007259 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007256 NORD:1907 MONDO:NORD NORD:1907 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1907 MONDO:NORD -MONDO:0007252 NORD:1199 MONDO:NORD NORD:1199 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1199 MONDO:NORD MONDO:0007251 NORD:884 MONDO:NORD Campomelic Syndrome NORD:884 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:884 MONDO:NORD +MONDO:0007252 NORD:1199 MONDO:NORD NORD:1199 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1199 MONDO:NORD MONDO:0007250 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007248 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007249 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007247 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007248 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007245 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007244 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007245 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007243 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007239 NORD:1100 MONDO:NORD NORD:1100 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1100 MONDO:NORD MONDO:0007238 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007239 NORD:1100 MONDO:NORD NORD:1100 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1100 MONDO:NORD MONDO:0007237 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007235 NORD:871 MONDO:NORD Branchio Oculo Facial Syndrome NORD:871 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:871 MONDO:NORD -MONDO:0007233 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007232 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007233 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007230 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007227 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007225 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007223 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007221 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007222 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007223 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007220 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007221 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007219 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007217 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007218 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007216 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007215 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007211 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007208 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007209 NORD:1843 MONDO:NORD Weismann Netter Stuhl Syndrome NORD:1843 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1843 MONDO:NORD +MONDO:0007208 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007207 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007205 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007204 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007203 NORD:865 MONDO:NORD Blue Rubber Bleb Nevus syndrome NORD:865 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:865 MONDO:NORD -MONDO:0007200 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007201 NORD:862 MONDO:NORD Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome NORD:862 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:862 MONDO:NORD MONDO:0007198 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007200 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007194 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007195 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007193 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007188 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007187 NORD:1507 MONDO:NORD NORD:1507 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1507 MONDO:NORD MONDO:0007184 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007177 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007182 NORD:1389 MONDO:NORD NORD:1389 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1389 MONDO:NORD MONDO:0007176 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007177 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007174 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007173 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007174 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007171 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007172 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007170 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007167 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007168 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007164 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007165 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007160 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007164 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007163 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007159 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007160 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007158 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007157 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007152 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007154 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007145 NORD:794 MONDO:NORD NORD:794 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:794 MONDO:NORD -MONDO:0007152 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007142 NORD:1780 MONDO:NORD NORD:1780 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1780 MONDO:NORD MONDO:0007138 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007137 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9494,15 +9454,15 @@ MONDO:0007134 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0007130 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007127 NORD:1053 MONDO:NORD NORD:1053 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1053 MONDO:NORD MONDO:0007124 NORD:738 MONDO:NORD AEC Syndrome NORD:738 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:738 MONDO:NORD -MONDO:0007119 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007118 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007114 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007119 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007115 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007113 NORD:782 MONDO:NORD NORD:782 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:782 MONDO:NORD +MONDO:0007114 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007111 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007112 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007110 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007109 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007110 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007108 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007105 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007104 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9517,15 +9477,15 @@ MONDO:0007085 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0007086 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007083 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007082 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007080 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007078 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007080 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007075 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007077 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007073 NORD:1215 MONDO:NORD Hanhart Syndrome NORD:1215 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1215 MONDO:NORD -MONDO:0007072 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007070 NORD:1046 MONDO:NORD Dercum's Disease NORD:1046 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1046 MONDO:NORD -MONDO:0007066 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007072 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007068 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007066 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007064 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007062 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007058 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9534,22 +9494,22 @@ MONDO:0007057 NORD:1214 MONDO:NORD Hajdu Cheney Syndrome NORD:1214 http://purl.o MONDO:0007055 NORD:725 MONDO:NORD NORD:725 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:725 MONDO:NORD MONDO:0007048 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007047 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007045 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007044 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007045 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007043 NORD:1572 MONDO:NORD NORD:1572 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1572 MONDO:NORD -MONDO:0007042 NORD:1686 MONDO:NORD Saethre Chotzen Syndrome NORD:1686 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1686 MONDO:NORD MONDO:0007041 NORD:793 MONDO:NORD NORD:793 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:793 MONDO:NORD -MONDO:0007039 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007042 NORD:1686 MONDO:NORD Saethre Chotzen Syndrome NORD:1686 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1686 MONDO:NORD MONDO:0007037 NORD:711 MONDO:NORD NORD:711 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:711 MONDO:NORD +MONDO:0007039 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007034 NORD:731 MONDO:NORD NORD:731 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:731 MONDO:NORD MONDO:0007032 NORD:1623 MONDO:NORD NORD:1623 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1623 MONDO:NORD MONDO:0007031 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007030 NORD:702 MONDO:NORD Aarskog Syndrome NORD:702 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:702 MONDO:NORD MONDO:0007029 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007012 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0006987 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006988 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006984 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0006987 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006978 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006980 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006976 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9565,41 +9525,41 @@ MONDO:0006835 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0006825 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006806 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006794 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0006792 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006789 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0006792 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006760 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006746 NORD:1092 MONDO:NORD NORD:1092 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1092 MONDO:NORD MONDO:0006745 NORD:1086 MONDO:NORD Empty Sella Syndrome NORD:1086 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1086 MONDO:NORD MONDO:0006664 NORD:820 MONDO:NORD Atrial Septal Defects NORD:820 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:820 MONDO:NORD -MONDO:0006643 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006649 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0006643 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006639 NORD:733 MONDO:NORD Adenoid Cystic Carcinoma NORD:733 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:733 MONDO:NORD MONDO:0006622 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006614 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0006606 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006602 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0006606 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006594 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006583 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006558 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0006536 NORD:998 MONDO:NORD NORD:998 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:998 MONDO:NORD MONDO:0006543 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006541 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0006536 NORD:998 MONDO:NORD NORD:998 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:998 MONDO:NORD MONDO:0006518 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006486 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006474 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006468 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006456 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006451 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0006447 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006444 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006446 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0006447 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006420 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006412 NORD:1676 MONDO:NORD Rosai-Dorfman Disease NORD:1676 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1676 MONDO:NORD MONDO:0006397 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006383 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006374 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0006363 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006372 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0006363 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006359 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006360 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006346 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9612,13 +9572,13 @@ MONDO:0006276 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0006260 NORD:1999 MONDO:NORD Renal Medullary Carcinoma NORD:1999 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1999 MONDO:NORD MONDO:0006257 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006247 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0006237 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006238 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0006237 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006235 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006230 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006210 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0006188 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006183 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0006188 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006172 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006158 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006143 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9627,13 +9587,13 @@ MONDO:0006131 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0006115 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006103 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006094 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0006087 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006082 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0006087 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006079 NORD:763 MONDO:NORD NORD:763 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:763 MONDO:NORD MONDO:0006081 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006068 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0006045 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006043 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0006045 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006042 NORD:1437 MONDO:NORD Meningitis, Tuberculous NORD:1437 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1437 MONDO:NORD MONDO:0006037 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006033 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9644,10 +9604,10 @@ MONDO:0006009 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0006005 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005991 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005988 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0005981 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005979 NORD:1766 MONDO:NORD NORD:1766 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1766 MONDO:NORD -MONDO:0005977 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005981 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005974 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005977 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005968 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005969 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005960 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9662,21 +9622,21 @@ MONDO:0005865 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0005854 NORD:1451 MONDO:NORD NORD:1451 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1451 MONDO:NORD MONDO:0005851 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005846 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0005841 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005838 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005841 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005837 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005835 NORD:1386 MONDO:NORD NORD:1386 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1386 MONDO:NORD MONDO:0005828 NORD:1375 MONDO:NORD NORD:1375 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1375 MONDO:NORD MONDO:0005825 NORD:1363 MONDO:NORD NORD:1363 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1363 MONDO:NORD -MONDO:0005824 NORD:1354 MONDO:NORD Legionnaires' Disease NORD:1354 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1354 MONDO:NORD MONDO:0005823 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005824 NORD:1354 MONDO:NORD Legionnaires' Disease NORD:1354 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1354 MONDO:NORD MONDO:0005820 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005817 NORD:1338 MONDO:NORD NORD:1338 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1338 MONDO:NORD -MONDO:0005803 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005802 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005803 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005798 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0005801 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005797 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005801 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005789 NORD:2020 MONDO:NORD Hepatitis D NORD:2020 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2020 MONDO:NORD MONDO:0005773 NORD:1180 MONDO:NORD NORD:1180 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1180 MONDO:NORD MONDO:0005769 NORD:1647 MONDO:NORD Ramsay Hunt Syndrome NORD:1647 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1647 MONDO:NORD @@ -9684,14 +9644,15 @@ MONDO:0005767 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0005764 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005754 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005761 NORD:1082 MONDO:NORD Elephantiasis NORD:1082 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1082 MONDO:NORD +MONDO:0005749 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005743 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005744 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005742 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0005743 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005736 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005737 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005731 NORD:705 MONDO:NORD Acanthocheilonemiasis NORD:705 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:705 MONDO:NORD -MONDO:0005725 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005724 NORD:1019 MONDO:NORD NORD:1019 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1019 MONDO:NORD +MONDO:0005725 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005714 NORD:1753 MONDO:NORD NORD:1753 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1753 MONDO:NORD MONDO:0005715 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005710 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9699,15 +9660,14 @@ MONDO:0005711 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0005708 NORD:989 MONDO:NORD NORD:989 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:989 MONDO:NORD MONDO:0005706 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005692 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0005683 NORD:877 MONDO:NORD NORD:877 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:877 MONDO:NORD -MONDO:0005676 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005680 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0005674 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005683 NORD:877 MONDO:NORD NORD:877 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:877 MONDO:NORD MONDO:0005670 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005674 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005668 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0005661 NORD:832 MONDO:NORD NORD:832 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:832 MONDO:NORD MONDO:0005662 NORD:833 MONDO:NORD NORD:833 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:833 MONDO:NORD MONDO:0005657 NORD:814 MONDO:NORD NORD:814 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:814 MONDO:NORD +MONDO:0005661 NORD:832 MONDO:NORD NORD:832 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:832 MONDO:NORD MONDO:0005645 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005631 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005629 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9750,8 +9710,8 @@ MONDO:0005223 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0005220 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005215 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005212 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0005207 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005210 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005207 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005201 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005198 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005197 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http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1288 MONDO:NORD MONDO:0000133 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0000136 NORD:1288 MONDO:NORD NORD:1288 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1288 MONDO:NORD MONDO:0000127 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0000128 NORD:1182 MONDO:NORD NORD:1182 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1182 MONDO:NORD -MONDO:0000110 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0000105 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0000107 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0000023 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0000015 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0958329 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0957248 DNM1-Encephalopathy and Neurodevelopmental Disorder http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0859190 ZMYM2-related neurodevelopmental disorder with multiple anomalies http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0800459 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0032908 MN1 C-Terminal Truncation Syndrome http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0032922 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0044655 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0035685 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0035160 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0023820 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0023129 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020327 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020288 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020286 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020081 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019837 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019482 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018916 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018384 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018344 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017423 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017129 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0016815 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0016816 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0016518 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015872 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014973 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014605 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014602 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014493 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0013800 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0013757 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0013400 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0012360 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0012297 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0012206 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0011399 NORD:1902 MONDO:NORD NORD:1902 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1902 MONDO:NORD +MONDO:0010682 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009929 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007758 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007525 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005676 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0100189 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0043230 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0035162 NORD:2036 MONDO:NORD PIK3CA-Related Overgrowth Spectrum NORD:2036 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2036 MONDO:NORD diff --git a/src/ontology/external/ordo-subsets.robot.owl b/src/ontology/external/ordo-subsets.robot.owl index c8d3f2f7..0876035c 100644 --- a/src/ontology/external/ordo-subsets.robot.owl +++ b/src/ontology/external/ordo-subsets.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + @@ -5209,12 +5209,12 @@ - http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders + http://purl.obolibrary.org/obo/mondo#ordo_disorder - http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders + http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:271861 @@ -7586,20 +7586,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:1765 - - - - @@ -8104,20 +8090,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:166011 - - - - @@ -11191,6 +11163,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:228343 + + + + @@ -11485,20 +11471,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:2756 - - - - @@ -11681,20 +11653,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:1562 - - - - @@ -11877,20 +11835,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:2646 - - - - @@ -12115,20 +12059,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:2878 - - - - @@ -15209,20 +15139,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:65798 - - - - @@ -15825,6 +15741,34 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:228346 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:228349 + + + + @@ -22341,20 +22285,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:1240 - - - - @@ -23699,6 +23629,34 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:228329 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:228360 + + + + @@ -23979,20 +23937,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:2752 - - - - @@ -26415,20 +26359,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:3210 - - - - @@ -30962,20 +30892,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:225 - - - - @@ -31270,6 +31186,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:228354 + + + + @@ -33174,6 +33104,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:228363 + + + + @@ -39447,6 +39391,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:228337 + + + + @@ -40119,6 +40077,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:228366 + + + + @@ -40668,12 +40640,12 @@ - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + http://purl.obolibrary.org/obo/mondo#ordo_disorder - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:263516 @@ -44065,20 +44037,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:3226 - - - - @@ -45477,6 +45435,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:314629 + + + + @@ -46849,6 +46821,20 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:352709 + + + + @@ -49638,15 +49624,8 @@ - http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:2729 - @@ -52078,20 +52057,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:101096 - - - - @@ -55595,12 +55560,12 @@ - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + http://purl.obolibrary.org/obo/mondo#ordo_disorder - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:141115 @@ -55970,34 +55935,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:141327 - - - - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:141330 - - - - @@ -56236,29 +56173,15 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder - Orphanet:1455 - - - - - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + http://purl.obolibrary.org/obo/mondo#ordo_disorder - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1456 @@ -57695,12 +57618,12 @@ - http://purl.obolibrary.org/obo/mondo#ordo_disorder + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder - http://purl.obolibrary.org/obo/mondo#ordo_disorder + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:1617 @@ -59008,20 +58931,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:168491 - - - - @@ -60681,20 +60590,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:178493 - - - - @@ -68629,12 +68524,12 @@ - http://purl.obolibrary.org/obo/mondo#ordo_disorder + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder - http://purl.obolibrary.org/obo/mondo#ordo_disorder + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:228384 @@ -69633,20 +69528,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:238 - - - - @@ -69717,20 +69598,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders - - - - - http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders - Orphanet:238510 - - - - @@ -75954,20 +75821,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:2653 - - - - @@ -81253,62 +81106,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder - Orphanet:295213 - - - - - - - - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder - Orphanet:295215 - - - - - - - - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder - Orphanet:295217 - - - - - - - - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder - Orphanet:295219 - - - - @@ -88068,20 +87865,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders - - - - - http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders - Orphanet:344 - - - - @@ -89804,20 +89587,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders - - - - - http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders - Orphanet:364817 - - - - @@ -95747,20 +95516,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders - - - - - http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders - Orphanet:458827 - - - - @@ -99240,20 +98995,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:65250 - - - - @@ -102439,48 +102180,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:79262 - - - - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:79263 - - - - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:79264 - - - - @@ -104273,20 +103972,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:85200 - - - - @@ -104626,12 +104311,12 @@ - http://purl.obolibrary.org/obo/mondo#ordo_disorder + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder - http://purl.obolibrary.org/obo/mondo#ordo_disorder + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:85451 @@ -107521,20 +107206,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders - - - - - http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders - Orphanet:93424 - - - - @@ -108053,20 +107724,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:93569 - - - - @@ -108753,20 +108410,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders - - - - - http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders - Orphanet:95161 - - - - @@ -114787,20 +114430,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:98975 - - - - @@ -116159,20 +115788,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:99647 - - - - @@ -116988,12 +116603,12 @@ - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + http://purl.obolibrary.org/obo/mondo#ordo_disorder - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99932 @@ -120141,20 +119756,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:656273 - - - - @@ -123697,34 +123298,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder - Orphanet:592885 - - - - - - - - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder - Orphanet:592888 - - - - @@ -125688,12 +125261,12 @@ - http://purl.obolibrary.org/obo/mondo#ordo_disorder + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder - http://purl.obolibrary.org/obo/mondo#ordo_disorder + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:499085 @@ -127172,12 +126745,12 @@ - http://purl.obolibrary.org/obo/mondo#ordo_disorder + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder - http://purl.obolibrary.org/obo/mondo#ordo_disorder + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:85447 @@ -127379,20 +126952,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:476102 - - - - @@ -127715,20 +127274,6 @@ - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - - - - - http://purl.obolibrary.org/obo/mondo#ordo_disorder - Orphanet:168486 - - - - diff --git a/src/ontology/external/ordo-subsets.robot.tsv b/src/ontology/external/ordo-subsets.robot.tsv index febafd9f..4582cdcc 100644 --- a/src/ontology/external/ordo-subsets.robot.tsv +++ b/src/ontology/external/ordo-subsets.robot.tsv @@ -28,7 +28,7 @@ MONDO:0000447 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2924 a MONDO:0000453 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:51083 short QT syndrome Familial short QT syndrome MONDO:0000455 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1871 cone dystrophy Progressive cone dystrophy MONDO:0000456 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:79172 cerebral creatine deficiency syndrome Creatine deficiency syndrome -MONDO:0000463 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2704 Ochoa syndrome Ochoa syndrome +MONDO:0000463 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2704 Ochoa syndrome Urofacial syndrome MONDO:0000476 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:376724 generalized dystonia Generalized isolated dystonia MONDO:0000507 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:52430 inclusion body myopathy with Paget disease of bone and frontotemporal dementia Inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000565 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:570762 infective endocarditis Infective endocarditis @@ -191,7 +191,7 @@ MONDO:0005215 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:494418 MONDO:0005220 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:247203 collecting duct carcinoma Collecting duct carcinoma MONDO:0005223 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98832 acute myeloid leukemia with minimal differentiation Acute myeloid leukemia with minimal differentiation MONDO:0005224 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98833 acute myeloblastic leukemia without maturation Acute myeloblastic leukemia without maturation -MONDO:0005272 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98826 myelodysplastic syndrome with single lineage dysplasia Refractory anemia +MONDO:0005272 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98826 myelodysplastic syndrome with single lineage dysplasia Myelodysplastic neoplasm with low blasts MONDO:0005308 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:363250 ciliopathy Ciliopathy MONDO:0005312 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:217067 pouchitis Pouchitis MONDO:0005313 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:391673 necrotizing enterocolitis Necrotizing enterocolitis @@ -219,7 +219,7 @@ MONDO:0005595 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:494550 MONDO:0005601 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:398961 ovarian mucinous adenocarcinoma Mucinous adenocarcinoma of ovary MONDO:0005615 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:86855 plasmacytoma Plasmacytoma MONDO:0005619 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99745 typhoid fever Typhoid -MONDO:0005620 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85458 cerebral amyloid angiopathy Hereditary cerebral hemorrhage with amyloidosis +MONDO:0005620 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85458 cerebral amyloid angiopathy Cerebral Amyloid Angiopathy MONDO:0005629 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:67043 Acanthamoeba keratitis Amoebic keratitis MONDO:0005631 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:457095 actinomycosis Actinomycosis MONDO:0005645 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:78 ancylostomiasis Ankylostomiasis @@ -300,7 +300,7 @@ MONDO:0006335 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:454723 MONDO:0006339 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:569248 ovarian microcystic stromal tumor Microcystic stromal tumor MONDO:0006346 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:424046 pancreatic acinar cell carcinoma Acinar cell carcinoma of pancreas MONDO:0006359 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:595133 neoplasm with perivascular epithelioid cell differentiation Perivascular epithelioid cell neoplasm -MONDO:0006363 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:168816 peritoneal multicystic mesothelioma Peritoneal cystic mesothelioma +MONDO:0006363 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:168816 peritoneal multicystic mesothelioma Peritoneal inclusion cyst MONDO:0006369 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:251919 pineal parenchymal tumor of intermediate differentiation Pineal parenchymal tumor of intermediate differentiation MONDO:0006372 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:251623 pituicytoma Pituicytoma MONDO:0006373 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:99408 pituitary gland adenoma Pituitary adenoma @@ -352,7 +352,7 @@ MONDO:0007055 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:969 Ac MONDO:0007057 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:955 Acroosteolysis dominant type Hajdu-Cheney syndrome MONDO:0007058 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:957 Acropectorovertebral dysplasia Acropectorovertebral dysplasia MONDO:0007059 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:971 acrorenal syndrome Acrorenal syndrome -MONDO:0007062 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:973 adactylia, unilateral Congenital absence/hypoplasia of fingers excluding thumb, unilateral +MONDO:0007062 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:973 adactylia, unilateral Isolated absence/hypoplasia of fingers excluding thumb, unilateral MONDO:0007064 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:277 severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency Severe combined immunodeficiency due to adenosine deaminase deficiency MONDO:0007068 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:46 adenylosuccinate lyase deficiency Adenylosuccinate lyase deficiency MONDO:0007070 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:36397 adiposis dolorosa Adiposis dolorosa @@ -369,7 +369,7 @@ MONDO:0007095 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1028 a MONDO:0007097 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85448 Finnish type amyloidosis AGel amyloidosis MONDO:0007098 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:100008 ACys amyloidosis ACys amyloidosis MONDO:0007099 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85450 familial visceral amyloidosis Hereditary amyloidosis with primary renal involvement -MONDO:0007100 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:271861 familial amyloid neuropathy Hereditary ATTR amyloidosis +MONDO:0007100 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:271861 familial amyloid neuropathy Hereditary ATTR amyloidosis MONDO:0007101 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:353220 familial primary localized cutaneous amyloidosis Familial primary localized cutaneous amyloidosis MONDO:0007104 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:90020 amyotrophic lateral sclerosis-parkinsonism-dementia complex Parkinson-dementia complex of Guam MONDO:0007108 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:424013 anal canal carcinoma Carcinoma of the anal canal @@ -476,7 +476,7 @@ MONDO:0007338 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99772 MONDO:0007339 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1997 blepharocheilodontic syndrome Blepharo-cheilo-odontic syndrome MONDO:0007340 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1452 cleidocranial dysplasia 1 Cleidocranial dysplasia MONDO:0007341 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1453 cleidorhizomelic syndrome Cleidorhizomelic syndrome -MONDO:0007343 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:217059 isolated congenital digital clubbing Isolated congenital digital clubbing +MONDO:0007343 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:217059 isolated congenital digital clubbing Isolated nail clubbing MONDO:0007345 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1457 aorta coarctation Aorta coarctation MONDO:0007346 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3233 cochleosaccular degeneration-cataract syndrome Cochleosaccular degeneration-cataract syndrome MONDO:0007351 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98945 coloboma of macula Coloboma of macula @@ -501,7 +501,7 @@ MONDO:0007385 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:458718 MONDO:0007388 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2391 congenitally short costocoracoid ligament Congenitally short costocoracoid ligament MONDO:0007392 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1508 coxoauricular syndrome Coxoauricular syndrome MONDO:0007395 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1529 craniofacial-deafness-hand syndrome Craniofacial-deafness-hand syndrome -MONDO:0007396 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1798 dysostosis, Stanescu type Dysostosis, Stanescu type +MONDO:0007396 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1798 dysostosis, Stanescu type Craniofacial dysostosis-diaphyseal hyperplasia syndrome MONDO:0007398 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:157832 craniorhiny Craniorhiny MONDO:0007400 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1540 Jackson-Weiss syndrome Jackson-Weiss syndrome MONDO:0007401 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1538 craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome @@ -530,7 +530,7 @@ MONDO:0007443 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1166 c MONDO:0007445 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:86920 dermatopathia pigmentosa reticularis Dermatopathia pigmentosa reticularis MONDO:0007447 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:493342 autosomal dominant vibratory urticaria Vibratory urticaria MONDO:0007449 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1660 dermo-odonto dysplasia Dermoodontodysplasia -MONDO:0007450 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:30925 neurohypophyseal diabetes insipidus Hereditary central diabetes insipidus +MONDO:0007450 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:30925 neurohypophyseal diabetes insipidus Hereditary arginine vasopressin deficiency MONDO:0007461 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2868 short stature-valvular heart disease-characteristic facies syndrome Short stature-valvular heart disease-characteristic facies syndrome MONDO:0007464 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99177 obsolete isolated distichiasis Isolated distichiasis MONDO:0007470 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85192 calvarial doughnut lesions-bone fragility syndrome Calvarial doughnut lesions-bone fragility syndrome @@ -539,7 +539,6 @@ MONDO:0007473 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:233 Du MONDO:0007477 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2616 3-M syndrome 3M syndrome MONDO:0007478 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:93325 autosomal dominant Kenny-Caffey syndrome Autosomal dominant Kenny-Caffey syndrome MONDO:0007481 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:240 Leri-Weill dyschondrosteosis Léri-Weill dyschondrosteosis -MONDO:0007482 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1765 dyschondrosteosis-nephritis syndrome Dyschondrosteosis-nephritis syndrome MONDO:0007483 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:41 dyschromatosis symmetrica hereditaria Dyschromatosis symmetrica hereditaria MONDO:0007486 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:352657 hereditary benign intraepithelial dyskeratosis Hereditary benign intraepithelial dyskeratosis MONDO:0007489 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1822 dysplasia epiphysealis hemimelica Dysplasia epiphysealis hemimelica @@ -576,7 +575,6 @@ MONDO:0007556 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79397 MONDO:0007558 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:25968 benign occipital epilepsy Benign occipital epilepsy MONDO:0007560 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:166433 reading seizures Reading seizures MONDO:0007561 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93308 multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 1 -MONDO:0007562 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:166011 multiple epiphyseal dysplasia, Beighton type Multiple epiphyseal dysplasia, Beighton type MONDO:0007564 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:91414 pilomatrixoma Pilomatrixoma MONDO:0007565 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:211 familial cylindromatosis Familial cylindromatosis MONDO:0007566 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:65748 multiple self-healing squamous epithelioma Multiple self-healing squamous epithelioma @@ -647,7 +645,7 @@ MONDO:0007726 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2114 h MONDO:0007727 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:32960 autosomal dominant familial periodic fever Tumor necrosis factor receptor 1 associated periodic syndrome MONDO:0007732 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:392 Holt-Oram syndrome Holt-Oram syndrome MONDO:0007735 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:91413 congenital Horner syndrome Congenital Horner syndrome -MONDO:0007737 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3265 humeroradial synostosis Humero-radial synostosis +MONDO:0007737 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3265 humeroradial synostosis Isolated humero-radial synostosis MONDO:0007738 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:263463 spondyloepiphyseal dysplasia with congenital joint dislocations CHST3-related skeletal dysplasia MONDO:0007739 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:399 Huntington disease Huntington disease MONDO:0007740 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:898 Wagner disease Wagner disease @@ -687,7 +685,7 @@ MONDO:0007841 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1509 c MONDO:0007842 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2295 joint laxity, familial Familial articular hypermobility syndrome MONDO:0007846 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2332 KBG syndrome KBG syndrome MONDO:0007848 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2334 autosomal dominant keratitis Autosomal dominant keratitis -MONDO:0007849 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:647815 keratitis fugax hereditaria Keratoendotheliitis fugax hereditaria +MONDO:0007849 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:647815 keratitis fugax hereditaria Keratitis fugax hereditaria MONDO:0007852 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2202 palmoplantar keratoderma-deafness syndrome Palmoplantar keratoderma-deafness syndrome MONDO:0007853 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:538574 palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome MONDO:0007854 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:50943 keratolytic winter erythema Keratolytic winter erythema @@ -706,7 +704,7 @@ MONDO:0007875 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:503 La MONDO:0007876 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2808 laryngeal abductor paralysis Laryngeal abductor paralysis MONDO:0007878 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2373 congenital laryngomalacia Congenital laryngomalacia MONDO:0007879 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1202 larynx atresia Larynx atresia -MONDO:0007880 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2374 congenital laryngeal web Congenital laryngeal web +MONDO:0007880 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2374 congenital laryngeal web Isolated congenital laryngeal web MONDO:0007883 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:652522 periodic fever, immunodeficiency, and thrombocytopenia syndrome Periodic fever-immunodeficiency-thrombocytopenia syndrome MONDO:0007885 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2380 Legg-Calve-Perthes disease Legg-Calvé-Perthes disease MONDO:0007888 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:523 hereditary leiomyomatosis and renal cell cancer Hereditary leiomyomatosis and renal cell cancer @@ -798,6 +796,7 @@ MONDO:0008071 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:88659 MONDO:0008073 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:88950 familial juvenile hyperuricemic nephropathy type 1 UMOD-related autosomal dominant tubulointerstitial kidney disease MONDO:0008075 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93921 schwannomatosis Full schwannomatosis MONDO:0008082 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:247709 multiple endocrine neoplasia type 2B Multiple endocrine neoplasia type 2B +MONDO:0008083 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228343 ceroid lipofuscinosis, neuronal, 4 (Kufs type) CLN4 disease MONDO:0008087 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:640 hereditary neuropathy with liability to pressure palsies Hereditary neuropathy with liability to pressure palsies MONDO:0008090 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2686 cyclic hematopoiesis Cyclic neutropenia MONDO:0008092 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:279943 hereditary neutrophilia Hereditary neutrophilia @@ -819,7 +818,6 @@ MONDO:0008130 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2743 o MONDO:0008133 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:67036 optic atrophy 3 Autosomal dominant optic atrophy and cataract MONDO:0008134 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98673 autosomal dominant optic atrophy, classic form Autosomal dominant optic atrophy, classic form MONDO:0008136 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:637061 isolated optic nerve hypoplasia Isolated optic nerve hypoplasia -MONDO:0008137 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2756 orofaciodigital syndrome X Orofaciodigital syndrome type 10 MONDO:0008138 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98606 syndromic orbital border hypoplasia Syndromic orbital border hypoplasia MONDO:0008139 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2760 OSLAM syndrome OSLAM syndrome MONDO:0008142 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3314 Thiemann disease, familial form Thiemann disease, familial form @@ -833,7 +831,6 @@ MONDO:0008152 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2774 m MONDO:0008153 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2762 progressive osseous heteroplasia Progressive osseous heteroplasia MONDO:0008155 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2777 osteomesopyknosis Osteomesopyknosis MONDO:0008156 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:53 autosomal dominant osteopetrosis 2 Albers-Schönberg osteopetrosis -MONDO:0008158 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1562 dacryocystitis-osteopoikilosis syndrome Dacryocystitis-osteopoikilosis syndrome MONDO:0008161 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2791 otodental syndrome Otodental syndrome MONDO:0008163 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2792 otofaciocervical syndrome Otofaciocervical syndrome MONDO:0008165 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98868 southeast Asian ovalocytosis Southeast Asian ovalocytosis @@ -847,24 +844,22 @@ MONDO:0008182 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2399 n MONDO:0008183 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:675 annular pancreas Annular pancreas MONDO:0008185 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:676 hereditary chronic pancreatitis Hereditary chronic pancreatitis MONDO:0008195 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:684 paramyotonia congenita of Von Eulenburg Paramyotonia congenita of Von Eulenburg -MONDO:0008196 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2646 parastremmatic dwarfism Parastremmatic dwarfism MONDO:0008198 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:251290 parietal foramina with cleidocranial dysplasia Parietal foramina with clavicular hypoplasia MONDO:0008199 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:411602 late-onset Parkinson disease Hereditary late-onset Parkinson disease MONDO:0008201 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:178509 Perry syndrome Perry syndrome -MONDO:0008205 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:86789 patella aplasia/hypoplasia Patella aplasia/hypoplasia +MONDO:0008205 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:86789 patella aplasia/hypoplasia Isolated patella aplasia/hypoplasia MONDO:0008206 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1179 benign paroxysmal tonic upgaze of childhood with ataxia Benign paroxysmal tonic upgaze of childhood with ataxia MONDO:0008209 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:46627 Char syndrome Char syndrome MONDO:0008211 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2976 pseudoleprechaunism syndrome, Patterson type Pseudoleprechaunism syndrome, Patterson type MONDO:0008215 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99027 adult-onset autosomal dominant demyelinating leukodystrophy Adult-onset autosomal dominant leukodystrophy MONDO:0008217 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2839 pelvis-shoulder dysplasia Pelvis-shoulder dysplasia -MONDO:0008218 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2841 Hailey-Hailey disease Familial benign chronic pemphigus +MONDO:0008218 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2841 Hailey-Hailey disease Hailey-Hailey disease MONDO:0008219 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:704 pemphigus vulgaris Pemphigus vulgaris MONDO:0008221 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:742 prolidase deficiency Prolidase deficiency MONDO:0008222 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:37553 Andersen-Tawil syndrome Andersen-Tawil syndrome MONDO:0008223 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:681 hypokalemic periodic paralysis Hypokalemic periodic paralysis MONDO:0008224 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:682 hyperkalemic periodic paralysis Hyperkalemic periodic paralysis MONDO:0008234 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:247698 multiple endocrine neoplasia type 2A Multiple endocrine neoplasia type 2A -MONDO:0008237 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2878 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome MONDO:0008244 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2884 piebaldism Piebaldism MONDO:0008245 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2885 piebald trait-neurologic defects syndrome Piebald trait-neurologic defects syndrome MONDO:0008246 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:251295 pigmented paravenous retinochoroidal atrophy Pigmented paravenous retinochoroidal atrophy @@ -890,13 +885,13 @@ MONDO:0008280 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2869 P MONDO:0008283 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2930 Cronkhite-Canada syndrome Cronkhite-Canada syndrome MONDO:0008286 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2935 crossed polysyndactyly Crossed polysyndactyly MONDO:0008287 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:380 Greig cephalopolysyndactyly syndrome Greig cephalopolysyndactyly syndrome -MONDO:0008289 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:36383 brain small vessel disease 1 with or without ocular anomalies COL4A1-related familial vascular leukoencephalopathy +MONDO:0008289 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:36383 brain small vessel disease 1 with or without ocular anomalies COL4A1/2-related familial vascular leukoencephalopathy MONDO:0008291 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:737 porokeratosis plantaris palmaris et disseminata Porokeratosis plantaris palmaris et disseminata MONDO:0008292 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79502 punctate palmoplantar keratoderma type 2 Punctate palmoplantar keratoderma type 2 MONDO:0008294 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79276 acute intermittent porphyria Acute intermittent porphyria MONDO:0008295 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:443057 sporadic porphyria cutanea tarda Sporadic porphyria cutanea tarda MONDO:0008296 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:443062 familial porphyria cutanea tarda Familial porphyria cutanea tarda -MONDO:0008297 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79473 variegate porphyria Porphyria variegata +MONDO:0008297 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79473 variegate porphyria Variegate porphyria MONDO:0008298 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2730 postaxial tetramelic oligodactyly Postaxial tetramelic oligodactyly MONDO:0008300 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:739 Prader-Willi syndrome Prader-Willi syndrome MONDO:0008301 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2957 Guttmacher syndrome Guttmacher syndrome @@ -930,7 +925,7 @@ MONDO:0008365 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:96167 MONDO:0008368 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:93608 autosomal dominant distal renal tubular acidosis Autosomal dominant distal renal tubular acidosis MONDO:0008369 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:47159 proximal renal tubular acidosis Proximal renal tubular acidosis MONDO:0008371 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79145 Dowling-Degos disease Dowling-Degos disease -MONDO:0008373 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:75326 retinal arterial tortuosity Retinal arterial tortuosity +MONDO:0008373 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:75326 retinal arterial tortuosity Familial isolated retinal arteriolar tortuosity MONDO:0008380 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:790 retinoblastoma Retinoblastoma MONDO:0008387 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:91481 ring dermoid of cornea Ring dermoid of cornea MONDO:0008388 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:169 ringed hair disease Ringed hair disease @@ -977,7 +972,7 @@ MONDO:0008467 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2437 C MONDO:0008469 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:168443 spondyloepimetaphyseal dysplasia-hypotrichosis syndrome Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome MONDO:0008471 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:94068 spondyloepiphyseal dysplasia congenita Spondyloepiphyseal dysplasia congenita MONDO:0008472 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:163668 spondyloepiphyseal dysplasia, MacDermot type Spondyloepiphyseal dysplasia, MacDermot type -MONDO:0008473 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:263482 spondyloepimetaphyseal dysplasia, Maroteaux type Spondyloepiphyseal dysplasia, Maroteaux type +MONDO:0008473 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:263482 spondyloepimetaphyseal dysplasia, Maroteaux type Spondyloepimetaphyseal dysplasia, Maroteaux type MONDO:0008476 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93346 spondyloepimetaphyseal dysplasia, Strudwick type Spondyloepimetaphyseal dysplasia congenita, Strudwick type MONDO:0008477 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93314 spondylometaphyseal dysplasia, Kozlowski type Spondylometaphyseal dysplasia, Kozlowski type MONDO:0008478 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93316 spondylometaphyseal dysplasia, Schmidt type Spondylometaphyseal dysplasia, Schmidt type @@ -998,7 +993,7 @@ MONDO:0008499 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2863 s MONDO:0008501 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3205 Sturge-Weber syndrome Sturge-Weber syndrome MONDO:0008503 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3465 Worster-Drought syndrome Worster-Drought syndrome MONDO:0008504 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3193 supravalvular aortic stenosis Supravalvular aortic stenosis -MONDO:0008509 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3248 distal symphalangism Distal symphalangism +MONDO:0008509 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3248 distal symphalangism Isolated distal symphalangism MONDO:0008510 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3246 symphalangism with multiple anomalies of hands and feet Symphalangism with multiple anomalies of hands and feet MONDO:0008511 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3250 proximal symphalangism Proximal symphalangism MONDO:0008512 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93402 syndactyly type 1 Syndactyly type 1 @@ -1040,8 +1035,8 @@ MONDO:0008608 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:870 Do MONDO:0008610 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:88629 blue color blindness Tritanopia MONDO:0008611 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3383 humerus trochlea aplasia Humerus trochlea aplasia MONDO:0008618 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2634 mesomelic dwarfism, Reinhardt-Pfeiffer type Mesomelic dwarfism, Reinhardt-Pfeiffer type -MONDO:0008619 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1837 ulna metaphyseal dysplasia syndrome Ulna metaphyseal dysplasia syndrome -MONDO:0008620 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2497 upper limb mesomelic dysplasia Upper limb mesomelic dysplasia +MONDO:0008619 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1837 ulna metaphyseal dysplasia syndrome Metaphyseal chondrodysplasia, Rosenberg type +MONDO:0008620 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2497 upper limb mesomelic dysplasia Upper limb mesomelic dysplasia, type Fryns MONDO:0008621 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1410 uncombable hair syndrome Uncombable hair syndrome MONDO:0008622 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1264 tricho-retino-dento-digital syndrome Tricho-retino-dento-digital syndrome MONDO:0008624 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3408 Upington disease Upington disease @@ -1075,7 +1070,7 @@ MONDO:0008694 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2985 p MONDO:0008695 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2388 chorea-acanthocytosis Choreoacanthocytosis MONDO:0008696 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:90301 acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome MONDO:0008699 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:929 achalasia microcephaly syndrome Achalasia-microcephaly syndrome -MONDO:0008700 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:931 acheiropody Acheiropodia +MONDO:0008700 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:931 acheiropody Isolated acheiropodia MONDO:0008701 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:93299 achondrogenesis type IA Achondrogenesis type 1A MONDO:0008702 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:93296 achondrogenesis type II Achondrogenesis type 2 MONDO:0008703 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2098 acromesomelic dysplasia 2A Acromesomelic dysplasia, Grebe type @@ -1085,7 +1080,6 @@ MONDO:0008706 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2561 A MONDO:0008707 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:958 acro-renal-mandibular syndrome Acro-renal-mandibular syndrome MONDO:0008708 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:36 acrocallosal syndrome Acrocallosal syndrome MONDO:0008709 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:221054 acrocephalopolydactyly Acrocephalopolydactyly -MONDO:0008711 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:65798 Goodman syndrome Goodman syndrome MONDO:0008712 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:949 acrocraniofacial dysostosis Acrocraniofacial dysostosis MONDO:0008713 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:37 acrodermatitis enteropathica Acrodermatitis enteropathica MONDO:0008714 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1788 acrofacial dysostosis Rodriguez type Acrofacial dysostosis, Rodríguez type @@ -1129,6 +1123,8 @@ MONDO:0008760 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:134 be MONDO:0008762 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:88919 autosomal recessive Alport syndrome Autosomal recessive Alport syndrome MONDO:0008763 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:64 Alstrom syndrome Alström syndrome MONDO:0008766 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1021 amaurosis-hypertrichosis syndrome Amaurosis-hypertrichosis syndrome +MONDO:0008767 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228346 neuronal ceroid lipofuscinosis 3 CLN3 disease +MONDO:0008769 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228349 neuronal ceroid lipofuscinosis 2 CLN2 disease MONDO:0008771 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1031 amelogenesis imperfecta type 1G Enamel-renal syndrome MONDO:0008774 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79154 2-aminoadipic 2-oxoadipic aciduria 2-aminoadipic 2-oxoadipic aciduria MONDO:0008777 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98957 gelatinous drop-like corneal dystrophy Gelatinous drop-like corneal dystrophy @@ -1307,7 +1303,7 @@ MONDO:0009092 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2770 p MONDO:0009093 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1659 dermatoleukodystrophy Dermatoleukodystrophy MONDO:0009094 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79149 dermochondrocorneal dystrophy Dermochondrocorneal dystrophy MONDO:0009095 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1657 dermatoosteolysis, Kirghizian type Dermatoosteolysis, Kirghizian type -MONDO:0009099 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3145 nephrogenic diabetes insipidus-intracranial calcification syndrome Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome +MONDO:0009099 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3145 nephrogenic diabetes insipidus-intracranial calcification syndrome Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome MONDO:0009104 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2143 Donnai-Barrow syndrome Donnai-Barrow syndrome MONDO:0009105 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:84064 trichohepatoenteric syndrome Syndromic diarrhea MONDO:0009106 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1671 diastematomyelia Split cord malformation type I @@ -1350,7 +1346,7 @@ MONDO:0009169 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2022 e MONDO:0009173 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:168601 congenital enteropathy due to enteropeptidase deficiency Congenital enteropathy due to enteropeptidase deficiency MONDO:0009174 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:566175 protein-losing enteropathy Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome MONDO:0009175 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3165 eosinophilic fasciitis Eosinophilic fasciitis -MONDO:0009176 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:302 epidermodysplasia verruciformis Epidermodysplasia verruciformis +MONDO:0009176 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:302 epidermodysplasia verruciformis Inherited epidermodysplasia verruciformis MONDO:0009177 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:231556 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome MONDO:0009179 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79408 recessive dystrophic epidermolysis bullosa Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form MONDO:0009181 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:257 epidermolysis bullosa simplex 5B, with muscular dystrophy Epidermolysis bullosa simplex with muscular dystrophy @@ -1542,7 +1538,7 @@ MONDO:0009501 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:171690 MONDO:0009502 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:79244 pyruvate dehydrogenase E2 deficiency Pyruvate dehydrogenase E2 deficiency MONDO:0009503 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:255182 pyruvate dehydrogenase E3-binding protein deficiency Pyruvate dehydrogenase E3-binding protein deficiency MONDO:0009504 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:17 mitochondrial DNA depletion syndrome 9 Fatal infantile lactic acidosis with methylmalonic aciduria -MONDO:0009506 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:169142 specific granule deficiency Recurrent infection due to specific granule deficiency +MONDO:0009506 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:169142 specific granule deficiency Recurrent infections due to specific granule deficiency MONDO:0009507 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1296 Lambert syndrome Lambert syndrome MONDO:0009509 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98818 Landau-Kleffner syndrome Landau-Kleffner syndrome MONDO:0009511 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:284139 Larsen-like syndrome, B3GAT3 type Larsen-like syndrome, B3GAT3 type @@ -1595,7 +1591,6 @@ MONDO:0009585 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1035 e MONDO:0009588 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2632 Langer mesomelic dysplasia Langer mesomelic dysplasia MONDO:0009589 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2631 mesomelic dwarfism-cleft palate-camptodactyly syndrome Mesomelic dwarfism-cleft palate-camptodactyly syndrome MONDO:0009591 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:309263 metachromatic leukodystrophy, juvenile form Metachromatic leukodystrophy, juvenile form -MONDO:0009592 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1240 metaphyseal acroscyphodysplasia Metaphyseal acroscyphodysplasia MONDO:0009593 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93317 spondylometaphyseal dysplasia, Sedaghatian type Spondylometaphyseal dysplasia, Sedaghatian type MONDO:0009594 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:166038 metaphyseal chondrodysplasia, Kaitila type Metaphyseal chondrodysplasia, Kaitila type MONDO:0009595 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:175 cartilage-hair hypoplasia Cartilage-hair hypoplasia @@ -1692,6 +1687,8 @@ MONDO:0009737 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:351 ga MONDO:0009738 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:87876 sialidosis type 2 Sialidosis type 2 MONDO:0009740 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2673 neurofaciodigitorenal syndrome Neurofaciodigitorenal syndrome MONDO:0009742 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:33445 neuroectodermal melanolysosomal disease Neuroectodermal melanolysosomal disease +MONDO:0009744 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228329 neuronal ceroid lipofuscinosis 1 CLN1 disease +MONDO:0009745 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228360 neuronal ceroid lipofuscinosis 5 CLN5 disease MONDO:0009746 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:642 hereditary sensory and autonomic neuropathy type 4 Hereditary sensory and autonomic neuropathy type 4 MONDO:0009747 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:255229 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Navajo neurohepatopathy MONDO:0009748 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:139578 hereditary sensory and autonomic neuropathy with spastic paraplegia Mutilating hereditary sensory neuropathy with spastic paraplegia @@ -1712,7 +1709,6 @@ MONDO:0009780 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2736 l MONDO:0009785 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2746 opsismodysplasia Opsismodysplasia MONDO:0009787 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:67047 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type 3 MONDO:0009792 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2272 ichthyosis-oral and digital anomalies syndrome Ichthyosis-oral and digital anomalies syndrome -MONDO:0009793 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2752 orofaciodigital syndrome III Orofaciodigital syndrome type 3 MONDO:0009794 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2753 orofaciodigital syndrome IV Orofaciodigital syndrome type 4 MONDO:0009795 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:141007 orofaciodigital syndrome IX Orofaciodigital syndrome type 9 MONDO:0009796 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:414 ornithine aminotransferase deficiency Gyrate atrophy of choroid and retina @@ -1726,7 +1722,7 @@ MONDO:0009813 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:324964 MONDO:0009814 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2324 osteopenia-intellectual disability-sparse hair syndrome Osteopenia-intellectual disability-sparse hair syndrome MONDO:0009818 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2785 autosomal recessive osteopetrosis 3 Osteopetrosis with renal tubular acidosis MONDO:0009820 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2788 osteoporosis-pseudoglioma syndrome Osteoporosis-pseudoglioma syndrome -MONDO:0009821 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1832 lethal osteosclerotic bone dysplasia Lethal osteosclerotic bone dysplasia +MONDO:0009821 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1832 lethal osteosclerotic bone dysplasia Osteosclerotic bone dysplasia MONDO:0009822 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2793 otoonychoperoneal syndrome Otoonychoperoneal syndrome MONDO:0009823 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:93598 primary hyperoxaluria type 1 Primary hyperoxaluria type 1 MONDO:0009824 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:93599 primary hyperoxaluria type 2 Primary hyperoxaluria type 2 @@ -1737,7 +1733,7 @@ MONDO:0009833 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:811 Sh MONDO:0009835 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2806 subacute sclerosing panencephalitis Subacute sclerosing leukoencephalitis MONDO:0009837 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2807 choroid plexus papilloma Papilloma of choroid plexus MONDO:0009838 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2812 Parana hard-skin syndrome Parana hard skin syndrome -MONDO:0009839 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:240085 progressive supranuclear palsy-parkinsonism syndrome Progressive supranuclear palsy-parkinsonism syndrome +MONDO:0009839 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:240085 progressive supranuclear palsy-parkinsonism syndrome Progressive supranuclear palsy-predominant parkinsonism syndrome MONDO:0009841 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2836 PEHO syndrome PEHO syndrome MONDO:0009843 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:280293 hypomyelinating leukodystrophy 3 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation MONDO:0009845 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93333 pelviscapular dysplasia Pelviscapular dysplasia @@ -1886,7 +1882,6 @@ MONDO:0010085 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:59298 MONDO:0010087 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:498602 Sugarman brachydactyly Sugarman brachydactyly MONDO:0010088 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:585 mucosulfatidosis Multiple sulfatase deficiency MONDO:0010089 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:99731 isolated sulfite oxidase deficiency Isolated sulfite oxidase deficiency -MONDO:0010090 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3210 Summitt syndrome Summitt syndrome MONDO:0010091 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1545 Cold-induced sweating syndrome 1 Crisponi syndrome MONDO:0010092 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3255 Filippi syndrome Filippi syndrome MONDO:0010094 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3275 spondylocarpotarsal synostosis syndrome Spondylocarpotarsal synostosis @@ -1912,7 +1907,7 @@ MONDO:0010134 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:705 Pe MONDO:0010139 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:90674 isolated thyroid-stimulating hormone deficiency Isolated thyroid-stimulating hormone deficiency MONDO:0010140 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:238670 isolated thyrotropin-releasing hormone deficiency Isolated thyrotropin-releasing hormone deficiency MONDO:0010142 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:90673 hypothyroidism due to TSH receptor mutations Hypothyroidism due to TSH receptor mutations -MONDO:0010144 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93322 tibial hemimelia Tibial hemimelia +MONDO:0010144 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93322 tibial hemimelia Isolated tibial hemimelia MONDO:0010146 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:499 Kerion celsi Kerion celsi MONDO:0010148 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3347 Mounier-Kuhn syndrome Mounier-Kühn syndrome MONDO:0010149 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:859 transcobalamin II deficiency Transcobalamin deficiency @@ -1972,7 +1967,7 @@ MONDO:0010275 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:83629 MONDO:0010277 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85286 syndromic X-linked intellectual disability Shashi type X-linked intellectual disability, Shashi type MONDO:0010278 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85278 Christianson syndrome Christianson syndrome MONDO:0010279 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:88630 terminal osseous dysplasia-pigmentary defects syndrome Terminal osseous dysplasia-pigmentary defects syndrome -MONDO:0010281 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:34587 Danon disease Glycogen storage disease due to LAMP-2 deficiency +MONDO:0010281 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:34587 Danon disease Danon disease MONDO:0010283 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1762 syndromic X-linked intellectual disability Lubs type Proximal Xq28 duplication syndrome MONDO:0010284 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85276 Armfield syndrome X-linked intellectual disability, Armfield type MONDO:0010285 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85273 syndromic X-linked intellectual disability Abidi type X-linked intellectual disability, Abidi type @@ -2045,7 +2040,7 @@ MONDO:0010441 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:251383 MONDO:0010444 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:363727 X-linked dyserythropoetic anemia with abnormal platelets and neutropenia X-linked dyserythropoietic anemia with abnormal platelets and neutropenia MONDO:0010446 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:90001 X-linked cone dysfunction syndrome with myopia X-linked cone dysfunction syndrome with myopia MONDO:0010448 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:280679 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome -MONDO:0010455 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia +MONDO:0010455 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia XMEN MONDO:0010457 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:276432 Ogden syndrome Ogden syndrome MONDO:0010460 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:289483 syndromic X-linked intellectual disability 17 Intellectual disability-alacrima-achalasia syndrome MONDO:0010461 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:163956 syndromic X-linked intellectual disability Nascimento type X-linked intellectual disability, Nascimento type @@ -2073,7 +2068,7 @@ MONDO:0010505 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3041 i MONDO:0010507 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:521258 Xq25 microduplication syndrome Xq25 microduplication syndrome MONDO:0010514 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:504530 combined immunodeficiency due to moesin deficiency Combined immunodeficiency due to Moesin deficiency MONDO:0010518 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:906 Wiskott-Aldrich syndrome Wiskott-Aldrich syndrome -MONDO:0010519 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:847 alpha thalassemia-X-linked intellectual disability syndrome Alpha-thalassemia-X-linked intellectual disability syndrome +MONDO:0010519 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:847 alpha thalassemia-X-linked intellectual disability syndrome X-linked alpha-thalassemia-intellectual disability syndrome MONDO:0010520 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:88917 X-linked Alport syndrome X-linked Alport syndrome MONDO:0010523 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85453 X-linked reticulate pigmentary disorder X-linked reticulate pigmentary disorder MONDO:0010524 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2802 X-linked sideroblastic anemia with ataxia X-linked sideroblastic anemia and spinocerebellar ataxia @@ -2213,7 +2208,6 @@ MONDO:0010771 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:137675 MONDO:0010773 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2596 mitochondrial myopathy with diabetes Myopathy and diabetes mellitus MONDO:0010779 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:90641 mitochondrial non-syndromic sensorineural hearing loss Rare mitochondrial non-syndromic sensorineural deafness MONDO:0010780 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:254864 mitochondrial myopathy with reversible cytochrome C oxidase deficiency Mitochondrial myopathy with reversible cytochrome C oxidase deficiency -MONDO:0010785 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:225 maternally-inherited diabetes and deafness Maternally-inherited diabetes and deafness MONDO:0010786 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1670 chronic diarrhea with villous atrophy Chronic diarrhea with villous atrophy MONDO:0010787 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:480 Kearns-Sayre syndrome Kearns-Sayre syndrome MONDO:0010788 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:104 Leber hereditary optic neuropathy Leber hereditary optic neuropathy @@ -2235,6 +2229,7 @@ MONDO:0010824 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2983 d MONDO:0010825 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1352 atrioventricular defect-blepharophimosis-radial and anal defect syndrome Atrioventricular defect-blepharophimosis-radial and anal defect syndrome MONDO:0010826 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:64280 childhood absence epilepsy Childhood absence epilepsy MONDO:0010829 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:199354 CARASIL syndrome Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy +MONDO:0010830 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228354 neuronal ceroid lipofuscinosis 8 CLN8 disease MONDO:0010831 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1768 familial caudal dysgenesis Familial caudal dysgenesis MONDO:0010835 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2988 pterygium colli-intellectual disability-digital anomalies syndrome Pterygium colli-intellectual disability-digital anomalies syndrome MONDO:0010839 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1216 neuronopathy, distal hereditary motor, autosomal dominant 8 Autosomal dominant congenital benign spinal muscular atrophy @@ -2245,7 +2240,7 @@ MONDO:0010848 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98766 MONDO:0010849 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2337 palmoplantar keratoderma, Bothnian type Diffuse palmoplantar keratoderma, Bothnian type MONDO:0010850 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:141258 Tessier number 4 facial cleft Tessier number 4 facial cleft MONDO:0010851 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2409 Lowry-MacLean syndrome Lowry-MacLean syndrome -MONDO:0010854 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3339 Toriello-Lacassie-Droste syndrome Toriello-Lacassie-Droste syndrome +MONDO:0010854 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3339 Toriello-Lacassie-Droste syndrome Oculoectodermal syndrome MONDO:0010855 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2832 short tarsus-absence of lower eyelashes syndrome Short tarsus-absence of lower eyelashes syndrome MONDO:0010856 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:88924 autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis MONDO:0010857 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:100069 semantic dementia Semantic dementia @@ -2336,7 +2331,7 @@ MONDO:0011053 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3051 i MONDO:0011054 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1027 autosomal recessive amelia Autosomal recessive amelia MONDO:0011055 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1580 distal monosomy 10p Distal deletion 10p MONDO:0011059 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2163 holoprosencephaly-craniosynostosis syndrome Holoprosencephaly-craniosynostosis syndrome -MONDO:0011060 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:91492 early-onset non-syndromic cataract Early-onset non-syndromic cataract +MONDO:0011060 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:91492 early-onset non-syndromic cataract Early onset non-syndromic cataract MONDO:0011062 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1126 aprosencephaly cerebellar dysgenesis Aprosencephaly cerebellar dysgenesis MONDO:0011063 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1808 hidrotic ectodermal dysplasia, Christianson-Fourie type Hidrotic ectodermal dysplasia, Christianson-Fourie type MONDO:0011065 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:97340 Hunter-McAlpine craniosynostosis Hunter-McAlpine syndrome @@ -2371,6 +2366,7 @@ MONDO:0011133 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3214 d MONDO:0011134 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1553 Curry-Jones syndrome Curry-Jones syndrome MONDO:0011136 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:220436 Quebec platelet disorder Quebec platelet disorder MONDO:0011142 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2953 Ehlers-Danlos syndrome, musculocontractural type Musculocontractural Ehlers-Danlos syndrome +MONDO:0011144 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228363 ceroid lipofuscinosis, neuronal, 6A CLN6 disease MONDO:0011145 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:363741 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome MONDO:0011146 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:884 tetrasomy 12p Tetrasomy 12p MONDO:0011147 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1600 chromosome 18q deletion syndrome Monosomy 18q @@ -2546,7 +2542,7 @@ MONDO:0011631 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:648562 MONDO:0011633 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99937 Charcot-Marie-Tooth disease axonal type 2C Autosomal dominant Charcot-Marie-Tooth disease type 2C MONDO:0011638 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:157846 neuroferritinopathy Neuroferritinopathy MONDO:0011640 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85201 genitopatellar syndrome Genitopatellar syndrome -MONDO:0011652 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:48652 Phelan-McDermid syndrome Monosomy 22q13.3 +MONDO:0011652 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:48652 Phelan-McDermid syndrome Phelan-McDermid syndrome MONDO:0011655 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:163699 alveolar soft part sarcoma Alveolar soft tissue sarcoma MONDO:0011663 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:247604 juvenile primary lateral sclerosis Juvenile primary lateral sclerosis MONDO:0011664 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:169100 immunodeficiency due to CD25 deficiency Immunodeficiency due to CD25 deficiency @@ -2590,7 +2586,7 @@ MONDO:0011771 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:139547 MONDO:0011772 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79332 B4GALT1-congenital disorder of glycosylation B4GALT1-CDG MONDO:0011773 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93347 anauxetic dysplasia Anauxetic dysplasia MONDO:0011776 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1451 CINCA syndrome CINCA syndrome -MONDO:0011778 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:166024 multiple epiphyseal dysplasia, Al-Gazali type Multiple epiphyseal dysplasia, Al-Gazali type +MONDO:0011778 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:166024 multiple epiphyseal dysplasia, Al-Gazali type Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome MONDO:0011781 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98759 spinocerebellar ataxia type 17 Spinocerebellar ataxia type 17 MONDO:0011783 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79324 ALG12-congenital disorder of glycosylation ALG12-CDG MONDO:0011785 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:100999 hereditary spastic paraplegia 19 Autosomal dominant spastic paraplegia type 19 @@ -2602,7 +2598,7 @@ MONDO:0011795 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1094 a MONDO:0011797 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:293168 infantile-onset ascending hereditary spastic paralysis Infantile-onset ascending hereditary spastic paralysis MONDO:0011801 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:94124 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 Spinocerebellar ataxia with axonal neuropathy type 1 MONDO:0011803 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99013 hereditary spastic paraplegia 7 Spastic paraplegia type 7 -MONDO:0011804 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:275517 autoimmune lymphoproliferative syndrome type 2B Autoimmune lymphoproliferative syndrome with recurrent viral infections +MONDO:0011804 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:275517 autoimmune lymphoproliferative syndrome type 2B Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency MONDO:0011806 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:488265 osteofibrous dysplasia Osteofibrous dysplasia MONDO:0011810 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2744 horizontal gaze palsy with progressive scoliosis Horizontal gaze palsy with progressive scoliosis MONDO:0011811 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:95434 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome Autosomal recessive cerebellar ataxia-movement disorder syndrome @@ -2682,7 +2678,7 @@ MONDO:0011979 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99000 MONDO:0011984 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:295197 synpolydactyly type 2 Synpolydactyly type 2 MONDO:0011985 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:101091 hyper-IgM syndrome type 4 Hyper-IgM syndrome type 4 MONDO:0011986 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:103918 tropical pancreatitis Tropical pancreatitis -MONDO:0011988 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:183707 neutrophil immunodeficiency syndrome Neutrophil immunodeficiency syndrome +MONDO:0011988 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:183707 neutrophil immunodeficiency syndrome Infantile LAD-like disease due to RAC2 deficiency MONDO:0011989 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:507 leishmaniasis Leishmaniasis MONDO:0011992 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:101005 hereditary spastic paraplegia 25 Autosomal recessive spastic paraplegia type 25 MONDO:0011995 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:314993 cataract - congenital heart disease - neural tube defect syndrome Cataract-congenital heart disease-neural tube defect syndrome @@ -2779,8 +2775,8 @@ MONDO:0012247 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98764 MONDO:0012248 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:86812 autosomal recessive limb-girdle muscular dystrophy type 2K POMT1-related limb-girdle muscular dystrophy R11 MONDO:0012250 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99954 Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease type 4H MONDO:0012251 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:171851 MEDNIK syndrome MEDNIK syndrome -MONDO:0012253 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:166029 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia -MONDO:0012254 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:166032 multiple epiphyseal dysplasia, with miniepiphyses Multiple epiphyseal dysplasia, with miniepiphyses +MONDO:0012253 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:166029 multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome +MONDO:0012254 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:166032 multiple epiphyseal dysplasia, with miniepiphyses Multiple epiphyseal dysplasia-miniepiphyses syndrome MONDO:0012256 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:101008 hereditary spastic paraplegia 28 Autosomal recessive spastic paraplegia type 28 MONDO:0012258 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:158681 epidermolysis bullosa simplex 2E, with migratory circinate erythema Epidermolysis bullosa simplex with circinate migratory erythema MONDO:0012269 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:65286 chromosome 3q29 microdeletion syndrome 3q29 microdeletion syndrome @@ -2807,7 +2803,7 @@ MONDO:0012345 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:263534 MONDO:0012351 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:295187 zygodactyly type 1 Zygodactyly type 1 MONDO:0012354 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:36355 platelet-type bleeding disorder 8 Bleeding disorder due to P2Y12 defect MONDO:0012359 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:231154 combined immunodeficiency due to partial RAG1 deficiency Combined immunodeficiency due to partial RAG1 deficiency -MONDO:0012368 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:137754 aminoacylase 1 deficiency Neurological conditions associated with aminoacylase 1 deficiency +MONDO:0012368 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:137754 aminoacylase 1 deficiency Aminoacylase 1 deficiency MONDO:0012381 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:263458 hyperinsulinism due to INSR deficiency Hyperinsulinism due to INSR deficiency MONDO:0012382 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:71212 hyperinsulinemic hypoglycemia, familial, 4 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency MONDO:0012383 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:75391 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency @@ -2824,6 +2820,7 @@ MONDO:0012407 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79096 MONDO:0012410 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:399086 Finnish upper limb-onset distal myopathy Finnish upper limb-onset distal myopathy MONDO:0012411 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:401964 giant axonal neuropathy 2 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons MONDO:0012413 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:178364 syndromic microphthalmia type 5 Syndromic microphthalmia type 5 +MONDO:0012414 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228337 neuronal ceroid lipofuscinosis 10 CLN10 disease MONDO:0012417 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:168796 heart-hand syndrome, Slovenian type Heart-hand syndrome, Slovenian type MONDO:0012423 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:75858 MORM syndrome MORM syndrome MONDO:0012435 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:66634 3-methylglutaconic aciduria type 5 Dilated cardiomyopathy with ataxia @@ -2860,18 +2857,19 @@ MONDO:0012530 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85112 MONDO:0012534 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:254925 combined oxidative phosphorylation defect type 4 Combined oxidative phosphorylation defect type 4 MONDO:0012541 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:90024 deafness with labyrinthine aplasia, microtia, and microdontia Deafness with labyrinthine aplasia, microtia, and microdontia MONDO:0012544 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93409 brachydactyly-syndactyly syndrome Brachydactyly-syndactyly, Zhao type -MONDO:0012545 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98908 neutral lipid storage myopathy Neutral lipid storage myopathy +MONDO:0012545 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98908 neutral lipid storage myopathy Neutral lipid storage disease with myopathy MONDO:0012548 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99749 Kostmann syndrome Kostmann syndrome MONDO:0012549 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:88644 autosomal recessive ataxia, Beauce type Autosomal recessive ataxia, Beauce type MONDO:0012552 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:276152 multiple endocrine neoplasia type 4 Multiple endocrine neoplasia type 4 MONDO:0012556 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:91131 DK1-congenital disorder of glycosylation DK1-CDG MONDO:0012557 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:91130 cardiomyopathy-hypotonia-lactic acidosis syndrome Cardiomyopathy-hypotonia-lactic acidosis syndrome -MONDO:0012559 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:90023 primary immunodeficiency syndrome due to p14 deficiency Primary immunodeficiency syndrome due to LAMTOR2 deficiency +MONDO:0012559 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:90023 primary immunodeficiency syndrome due to p14 deficiency Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency MONDO:0012570 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:91135 body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency MONDO:0012574 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1713 Potocki-Lupski syndrome 17p11.2 microduplication syndrome MONDO:0012579 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:747 autoimmune pulmonary alveolar proteinosis Autoimmune pulmonary alveolar proteinosis MONDO:0012580 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:264675 hereditary pulmonary alveolar proteinosis Hereditary pulmonary alveolar proteinosis MONDO:0012582 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:440402 interstitial lung disease due to ABCA3 deficiency Interstitial lung disease due to ABCA3 deficiency +MONDO:0012588 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228366 neuronal ceroid lipofuscinosis 7 CLN7 disease MONDO:0012589 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2896 Pitt-Hopkins syndrome Pitt-Hopkins syndrome MONDO:0012591 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:216828 osteogenesis imperfecta type 5 Osteogenesis imperfecta type 5 MONDO:0012593 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:209905 brain-lung-thyroid syndrome Brain-lung-thyroid syndrome @@ -2911,7 +2909,7 @@ MONDO:0012714 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:289377 MONDO:0012716 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:163654 spondyloepiphyseal dysplasia, Cantu type Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome MONDO:0012718 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:137908 hypotonia with lactic acidemia and hyperammonemia Hypotonia with lactic acidemia and hyperammonemia MONDO:0012719 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:139406 combined PSAP deficiency Encephalopathy due to prosaposin deficiency -MONDO:0012721 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:263516 progressive myoclonic epilepsy type 3 Progressive myoclonic epilepsy type 3 +MONDO:0012721 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:263516 progressive myoclonic epilepsy type 3 Progressive myoclonic epilepsy type 3 MONDO:0012724 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:247868 familial cold autoinflammatory syndrome 2 NLRP12-associated hereditary periodic fever syndrome MONDO:0012725 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:329481 lipoprotein glomerulopathy Lipoprotein glomerulopathy MONDO:0012726 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:73229 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome HANAC syndrome @@ -2980,7 +2978,7 @@ MONDO:0012916 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:261349 MONDO:0012927 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:250999 chromosome 1q41-q42 deletion syndrome 1q41q42 microdeletion syndrome MONDO:0012928 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:171863 hereditary spastic paraplegia 42 Autosomal dominant spastic paraplegia type 42 MONDO:0012929 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:210163 Compton-North congenital myopathy Congenital lethal myopathy, Compton-North type -MONDO:0012930 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:331176 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency +MONDO:0012930 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:331176 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency Severe congenital neutropenia due to G6PC3 deficiency MONDO:0012948 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:96125 chromosome 6pter-p24 deletion syndrome Distal deletion 6p MONDO:0012964 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1596 chromosome 15q26-qter deletion syndrome Distal deletion 15q MONDO:0012967 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:86817 hemolytic anemia due to adenylate kinase deficiency Hemolytic anemia due to adenylate kinase deficiency @@ -2991,7 +2989,7 @@ MONDO:0012986 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0012992 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:199337 pancreatic insufficiency-anemia-hyperostosis syndrome Pancreatic insufficiency-anemia-hyperostosis syndrome MONDO:0012994 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:70594 dopa-responsive dystonia due to sepiapterin reductase deficiency Dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012996 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:35704 AGAT deficiency L-Arginine:glycine amidinotransferase deficiency -MONDO:0012997 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1415 cholestasis-pigmentary retinopathy-cleft palate syndrome Cholestasis-pigmentary retinopathy-cleft palate syndrome +MONDO:0012997 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1415 cholestasis-pigmentary retinopathy-cleft palate syndrome Hardikar syndrome MONDO:0012999 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:382 guanidinoacetate methyltransferase deficiency Guanidinoacetate methyltransferase deficiency MONDO:0013000 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:100924 porphyria due to ALA dehydratase deficiency Porphyria due to ALA dehydratase deficiency MONDO:0013003 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:141152 isolated congenital hypoglossia/aglossia Isolated congenital hypoglossia/aglossia @@ -3003,7 +3001,7 @@ MONDO:0013014 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:171866 MONDO:0013016 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:99844 leukocyte adhesion deficiency 3 Leukocyte adhesion deficiency type III MONDO:0013021 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:210115 sterile multifocal osteomyelitis with periostitis and pustulosis Sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0013024 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:70591 chronic thromboembolic pulmonary hypertension Chronic thromboembolic pulmonary hypertension -MONDO:0013025 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:251056 chromosome 6q24-q25 deletion syndrome 6q25 microdeletion syndrome +MONDO:0013025 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:251056 chromosome 6q24-q25 deletion syndrome 6q25.2q25.3 microdeletion syndrome MONDO:0013026 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98959 subepithelial mucinous corneal dystrophy Subepithelial mucinous corneal dystrophy MONDO:0013027 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98971 posterior amorphous corneal dystrophy Posterior amorphous corneal dystrophy MONDO:0013028 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:45 adenosine monophosphate deaminase deficiency Adenosine monophosphate deaminase deficiency @@ -3156,7 +3154,6 @@ MONDO:0013531 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0013533 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:140905 hyperlipidemia due to hepatic triglyceride lipase deficiency Hyperlipidemia due to hepatic triacylglycerol lipase deficiency MONDO:0013536 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:562509 heme oxygenase 1 deficiency Heme oxygenase-1 deficiency MONDO:0013539 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79507 hypotonia-failure to thrive-microcephaly syndrome Hypotonia-failure to thrive-microcephaly syndrome -MONDO:0013540 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3226 deafness-lymphedema-leukemia syndrome Deafness-lymphedema-leukemia syndrome MONDO:0013541 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:300570 complex cortical dysplasia with other brain malformations 1 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation MONDO:0013546 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1194 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 TMEM70-related mitochondrial encephalo-cardio-myopathy MONDO:0013550 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:63273 distal myopathy with posterior leg and anterior hand involvement Distal myopathy with posterior leg and anterior hand involvement @@ -3177,8 +3174,8 @@ MONDO:0013584 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:456318 MONDO:0013587 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:284435 glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency MONDO:0013594 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:276198 spinocerebellar ataxia type 36 Spinocerebellar ataxia type 36 MONDO:0013595 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:276405 hyperbiliverdinemia Hyperbiliverdinemia -MONDO:0013599 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:391487 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome -MONDO:0013607 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228423 monocytopenia with susceptibility to infections Monocytopenia with susceptibility to infections +MONDO:0013599 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:391487 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome +MONDO:0013607 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228423 monocytopenia with susceptibility to infections GATA2 deficiency spectrum MONDO:0013614 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:293958 hypertelorism-preauricular sinus-punctual pits-deafness syndrome Hypertelorism-preauricular sinus-punctual pits-deafness syndrome MONDO:0013615 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:284149 craniosynostosis and dental anomalies Craniosynostosis-dental anomalies MONDO:0013622 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:98886 platelet-type bleeding disorder 9 Bleeding diathesis due to integrin alpha2-beta1 deficiency @@ -3258,6 +3255,7 @@ MONDO:0013858 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:269229 MONDO:0013860 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:97560 idiopathic membranous glomerulonephritis Primary membranous glomerulonephritis MONDO:0013863 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:445018 combined immunodeficiency due to LRBA deficiency Combined immunodeficiency due to LRBA deficiency MONDO:0013865 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:314637 mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency +MONDO:0013866 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:314629 neuronal ceroid lipofuscinosis 11 CLN11 disease MONDO:0013867 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:572550 Brown-Vialetto-van Laere syndrome 2 RFVT3-related riboflavin transporter deficiency MONDO:0013869 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:976 adenine phosphoribosyltransferase deficiency Adenine phosphoribosyltransferase deficiency MONDO:0013870 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:314667 TMEM165-congenital disorder of glycosylation TMEM165-CDG @@ -3306,7 +3304,7 @@ MONDO:0013996 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0013997 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:398189 focal facial dermal dysplasia type IV Focal facial dermal dysplasia type IV MONDO:0013999 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:313800 retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome MONDO:0014005 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:329903 immunoglobulin-mediated membranoproliferative glomerulonephritis Immunoglobulin-mediated membranoproliferative glomerulonephritis -MONDO:0014006 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:329224 Schuurs-Hoeijmakers syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome +MONDO:0014006 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:329224 Schuurs-Hoeijmakers syndrome Schuurs-Hoeijmakers syndrome MONDO:0014012 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:329258 Charcot-Marie-Tooth disease axonal type 2Q Autosomal dominant Charcot-Marie-Tooth disease type 2Q MONDO:0014013 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:411712 maternal riboflavin deficiency Maternal riboflavin deficiency MONDO:0014014 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:412189 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive Epidermolysis bullosa simplex due to exophilin 5 deficiency @@ -3356,6 +3354,7 @@ MONDO:0014132 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:363424 MONDO:0014139 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:536467 Ehlers-Danlos syndrome, spondylodysplastic type, 2 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome MONDO:0014142 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:363623 autosomal recessive limb-girdle muscular dystrophy type 2T GMPPB-related limb-girdle muscular dystrophy R19 MONDO:0014144 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:369840 autosomal recessive limb-girdle muscular dystrophy type R18 TRAPPC11-related limb-girdle muscular dystrophy R18 +MONDO:0014147 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:352709 neuronal ceroid lipofuscinosis 13 CLN13 disease MONDO:0014148 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:785 estrogen resistance syndrome Estrogen resistance syndrome MONDO:0014149 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:363409 fetal akinesia-cerebral and retinal hemorrhage syndrome Fetal akinesia-cerebral and retinal hemorrhage syndrome MONDO:0014154 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:369867 Charcot-Marie-Tooth disease recessive intermediate C Autosomal recessive intermediate Charcot-Marie-Tooth disease type C @@ -3417,7 +3416,7 @@ MONDO:0014302 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:401785 MONDO:0014303 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:401810 hereditary spastic paraplegia 64 Autosomal recessive spastic paraplegia type 64 MONDO:0014304 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:401780 hereditary spastic paraplegia 61 Autosomal recessive spastic paraplegia type 61 MONDO:0014305 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:401805 hereditary spastic paraplegia 63 Autosomal recessive spastic paraplegia type 63 -MONDO:0014306 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:404553 vasculitis due to ADA2 deficiency Vasculitis due to ADA2 deficiency +MONDO:0014306 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:404553 vasculitis due to ADA2 deficiency Adenosine deaminase 2 deficiency MONDO:0014309 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:397615 obesity due to CEP19 deficiency Obesity due to CEP19 deficiency MONDO:0014310 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:221043 hereditary sclerosing poikiloderma with tendon and pulmonary involvement Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome MONDO:0014311 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:404499 autosomal recessive spinocerebellar ataxia 15 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency @@ -3473,7 +3472,7 @@ MONDO:0014431 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:435660 MONDO:0014449 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:86816 congenital analbuminemia Congenital analbuminemia MONDO:0014452 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:98881 familial dysfibrinogenemia Familial dysfibrinogenemia MONDO:0014455 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:436174 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome -MONDO:0014456 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:423384 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency +MONDO:0014456 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:423384 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency Severe congenital neutropenia due to JAGN1 deficiency MONDO:0014460 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:423454 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome MONDO:0014464 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:431361 progressive encephalopathy with leukodystrophy due to DECR deficiency Progressive encephalopathy with leukodystrophy due to DECR deficiency MONDO:0014466 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:583602 Neu-Laxova syndrome 2 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency @@ -3521,7 +3520,7 @@ MONDO:0014556 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:562528 MONDO:0014557 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:459033 ataxia - oculomotor apraxia type 4 Ataxia-oculomotor apraxia type 4 MONDO:0014558 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:457193 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome MONDO:0014559 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:457212 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome -MONDO:0014561 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:445038 3-methylglutaconic aciduria, type VIIB 3-methylglutaconic aciduria type 7 +MONDO:0014561 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:445038 3-methylglutaconic aciduria, type VIIB 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome MONDO:0014562 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:457185 neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome MONDO:0014563 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:653880 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MONDO:0014566 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:397735 Charcot-Marie-Tooth disease axonal type 2U Autosomal dominant Charcot-Marie-Tooth disease type 2U @@ -3555,7 +3554,6 @@ MONDO:0014684 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:477684 MONDO:0014685 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:457265 progressive myoclonic epilepsy type 9 Progressive myoclonic epilepsy type 9 MONDO:0014689 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO:0014698 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:457351 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome -MONDO:0014700 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2729 Au-Kline syndrome Okamoto syndrome MONDO:0014700 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:453504 Au-Kline syndrome Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation MONDO:0014701 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:459051 spondyloepiphyseal dysplasia, Stanescu type Spondyloepiphyseal dysplasia, Stanescu type MONDO:0014702 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:447760 autosomal recessive complex spastic paraplegia type 9B Autosomal recessive spastic paraplegia type 9B @@ -3589,7 +3587,7 @@ MONDO:0014747 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:488197 MONDO:0014748 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:457395 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome MONDO:0014751 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:477993 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome MONDO:0014753 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98676 obsolete autosomal recessive optic atrophy Autosomal recessive isolated optic atrophy -MONDO:0014757 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:487796 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome +MONDO:0014757 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:487796 macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Takenouchi-Kosaki syndrome MONDO:0014760 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:476113 TFRC-related combined immunodeficiency Combined immunodeficiency due to TFRC deficiency MONDO:0014764 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:464282 spastic paraplegia-severe developmental delay-epilepsy syndrome Spastic paraplegia-severe developmental delay-epilepsy syndrome MONDO:0014773 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:369891 cardiac anomalies - developmental delay - facial dysmorphism syndrome Developmental delay-facial dysmorphism syndrome due to MED13L deficiency @@ -3681,8 +3679,8 @@ MONDO:0015036 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:100013 MONDO:0015037 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:100014 lissencephaly with cerebellar hypoplasia type D Lissencephaly with cerebellar hypoplasia type D MONDO:0015038 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:100015 lissencephaly with cerebellar hypoplasia type E Lissencephaly with cerebellar hypoplasia type E MONDO:0015039 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:100016 lissencephaly with cerebellar hypoplasia type F Lissencephaly with cerebellar hypoplasia type F -MONDO:0015040 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:100019 myelodysplastic syndrome with excess blasts-1 Refractory anemia with excess blasts type 1 -MONDO:0015041 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:100020 myelodysplastic syndrome with excess blasts-2 Refractory anemia with excess blasts type 2 +MONDO:0015040 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:100019 myelodysplastic syndrome with excess blasts-1 Myelodysplastic neoplasm with increased blasts type 1 +MONDO:0015041 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:100020 myelodysplastic syndrome with excess blasts-2 Myelodysplastic neoplasm with increased blasts type 2 MONDO:0015042 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:100021 primary plasmacytoma of the bone Primary plasmacytoma of the bone MONDO:0015043 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:100022 extramedullary soft tissue plasmacytoma Extramedullary soft tissue plasmacytoma MONDO:0015044 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:100024 mu-heavy chain disease Mu-heavy chain disease @@ -3730,7 +3728,6 @@ MONDO:0015094 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0015096 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:101041 familial hypofibrinogenemia Familial hypofibrinogenemia MONDO:0015097 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:101043 aortic valve dysplasia Congenital aortic valve dysplasia MONDO:0015099 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:101071 unilateral hemispheric polymicrogyria Unilateral hemispheric polymicrogyria -MONDO:0015100 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:101096 aregenerative anemia Aregenerative anemia MONDO:0015101 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:101104 Marin-Amat syndrome Marin-Amat syndrome MONDO:0015103 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:101206 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome MONDO:0015104 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:101330 porphyria cutanea tarda Porphyria cutanea tarda @@ -3747,7 +3744,7 @@ MONDO:0015115 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0015116 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:101941 obsolete rare biliary tract disease Rare biliary tract disease MONDO:0015117 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:101943 obsolete rare hepatic and biliary tract tumor Rare hepatic and biliary tract tumor MONDO:0015118 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:101944 obsolete rare pulmonary disease Rare pulmonary disease -MONDO:0015119 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:101945 obsolete bronchopulmonary tumor Rare bronchopulmonary tumor +MONDO:0015119 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:101945 obsolete bronchopulmonary tumor Rare bronchopulmonary and pleural cavity tumors MONDO:0015121 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:101950 obsolete rare eye tumor Rare eye tumor MONDO:0015122 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:101952 obsolete rare diabetes mellitus Rare diabetes mellitus MONDO:0015123 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:101953 obsolete rare inherited dyslipidemia Rare dyslipidemia @@ -3761,7 +3758,7 @@ MONDO:0015130 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0015131 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:101972 combined immunodeficiency Combined T and B cell immunodeficiency MONDO:0015132 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:101977 obsolete immunodeficiency predominantly affecting antibody production Immunodeficiency predominantly affecting antibody production MONDO:0015133 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:101985 obsolete quantitative and/or qualitative congenital phagocyte defect Quantitative and/or qualitative congenital phagocyte defect -MONDO:0015134 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:101987 constitutional neutropenia Constitutional neutropenia +MONDO:0015134 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:101987 constitutional neutropenia Congenital neutropenia MONDO:0015135 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:101988 obsolete primary immunodeficiency due to a genetic defect in innate immunity Primary immunodeficiency due to a defect in innate immunity MONDO:0015136 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:101992 obsolete immunodeficiency due to a genetic complement cascade protein anomaly Immunodeficiency due to a complement cascade protein anomaly MONDO:0015137 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:101995 periodic fever syndrome Periodic fever syndrome @@ -3787,7 +3784,7 @@ MONDO:0015162 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0015164 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:102379 acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent MONDO:0015165 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:102381 acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor MONDO:0015166 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:102724 acute myeloid leukemia with t(8;21)(q22;q22) translocation Acute myeloid leukemia with t(8;21)(q22;q22) translocation -MONDO:0015167 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:295000 amniotic band syndrome Constriction rings syndrome +MONDO:0015167 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:295000 amniotic band syndrome Amniotic band syndrome MONDO:0015168 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:1037 arthrogryposis multiplex congenita Arthrogryposis multiplex congenita MONDO:0015169 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:103907 chronic diarrhea due to glucoamylase deficiency Chronic diarrhea due to glucoamylase deficiency MONDO:0015170 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:103908 congenital sodium diarrhea Congenital sodium diarrhea @@ -3914,7 +3911,7 @@ MONDO:0015313 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0015314 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:137926 primary laryngeal lymphangioma Primary laryngeal lymphangioma MONDO:0015315 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:137929 neonatal brainstem dysfunction Neonatal brainstem dysfunction MONDO:0015316 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:137932 congenital laryngeal palsy Congenital laryngeal palsy -MONDO:0015317 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:137935 laryngotracheal angioma Laryngotracheal angioma +MONDO:0015317 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:137935 laryngotracheal angioma Airway infantile hemangioma MONDO:0015319 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:138044 obsolete rare disease with Pierre Robin syndrome Rare disease with Pierre Robin syndrome MONDO:0015323 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:138059 obsolete teratogenic Pierre Robin syndrome Teratogenic Pierre Robin syndrome MONDO:0015324 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1381 cataract-intellectual disability-anal atresia-urinary defects syndrome Cataract-intellectual disability-anal atresia-urinary defects syndrome @@ -3981,7 +3978,7 @@ MONDO:0015389 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:141096 MONDO:0015390 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:141099 proboscis lateralis Proboscis lateralis MONDO:0015391 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:141107 nasopharyngeal teratoma Nasopharyngeal teratoma MONDO:0015392 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:141112 nasal glial heterotopia Nasal glial heterotopia -MONDO:0015393 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:141115 nasal ganglioglioma Nasal ganglioglioma +MONDO:0015393 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:141115 nasal ganglioglioma Nasal ganglioglioma MONDO:0015394 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:141118 nasal encephalocele Nasal encephalocele MONDO:0015395 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:141121 congenital subglottic stenosis Congenital subglottic stenosis MONDO:0015396 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:141124 congenital laryngeal cyst Congenital laryngeal cyst @@ -4008,8 +4005,6 @@ MONDO:0015417 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:141265 MONDO:0015418 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:141269 obsolete lateral facial cleft Lateral facial cleft MONDO:0015419 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:141288 midline cervical cleft Midline cervical cleft MONDO:0015420 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:141291 cleft lip and alveolus Cleft lip and alveolus -MONDO:0015421 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:141327 orofaciodigital syndrome type 12 Orofaciodigital syndrome type 12 -MONDO:0015422 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:141330 orofaciodigital syndrome type 13 Orofaciodigital syndrome type 13 MONDO:0015425 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1423 lethal recessive chondrodysplasia Lethal recessive chondrodysplasia MONDO:0015426 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1425 Desbuquois dysplasia Desbuquois syndrome MONDO:0015427 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:1431 paroxysmal dyskinesia Paroxysmal dyskinesia @@ -4027,8 +4022,7 @@ MONDO:0015439 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1447 r MONDO:0015440 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1448 ring chromosome 6 Ring chromosome 6 syndrome MONDO:0015441 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1449 ring chromosome 7 Ring chromosome 7 syndrome MONDO:0015443 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1450 chromosome 8-derived supernumerary ring/marker Ring chromosome 8 syndrome -MONDO:0015445 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:1455 autosomal dominant coarctation of aorta Autosomal dominant coarctation of aorta -MONDO:0015446 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:1456 atypical coarctation of aorta Atypical coarctation of aorta +MONDO:0015446 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1456 atypical coarctation of aorta Middle aortic syndrome MONDO:0015447 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:146 differentiated thyroid carcinoma Differentiated thyroid carcinoma MONDO:0015448 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1460 mitochondrial complex III deficiency Isolated complex III deficiency MONDO:0015449 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1461 criss-cross heart Criss-cross heart @@ -4098,7 +4092,7 @@ MONDO:0015520 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0015521 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:157719 juvenile or adult CACH syndrome Juvenile or adult CACH syndrome MONDO:0015523 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:157791 epithelioid hemangioendothelioma Epithelioid hemangioendothelioma MONDO:0015524 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:157798 hyperplastic polyposis syndrome Serrated polyposis syndrome -MONDO:0015525 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:157808 congenital pseudoarthrosis of the limbs Congenital pseudoarthrosis of the limbs +MONDO:0015525 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:157808 congenital pseudoarthrosis of the limbs Isolated pseudoarthrosis of the limbs MONDO:0015526 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:157820 cold-induced sweating syndrome Cold-induced sweating syndrome MONDO:0015528 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:157826 congenital epulis Congenital epulis MONDO:0015529 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:157835 paroxysmal Hemicrania Paroxysmal hemicrania @@ -4131,8 +4125,8 @@ MONDO:0015558 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:158778 MONDO:0015562 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1597 distal monosomy 17q Distal deletion 17q MONDO:0015564 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:160 Castleman disease Castleman disease MONDO:0015565 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:160148 cap polyposis Cap polyposis -MONDO:0015566 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1617 2q24 microdeletion syndrome 2q24 microdeletion syndrome -MONDO:0015567 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:162 cataract-glaucoma syndrome Cataract-glaucoma syndrome +MONDO:0015566 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:1617 2q24 microdeletion syndrome Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion +MONDO:0015567 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:162 cataract-glaucoma syndrome Congenital cataract-anterior segment dysgenesis syndrome MONDO:0015568 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:162516 isolated congenital nasal pyriform aperture stenosis Isolated congenital nasal pyriform aperture stenosis MONDO:0015570 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:162526 isolated congenital auditory ossicle malformation Isolated congenital auditory ossicle malformation MONDO:0015571 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1627 deletion 5q35 Deletion 5q35 @@ -4161,7 +4155,7 @@ MONDO:0015603 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0015604 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:164004 middle ear anomaly Middle and/or inner ear anomaly MONDO:0015605 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1642 distal monosomy 9p Distal deletion 9p MONDO:0015606 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1643 Xp22.3 microdeletion syndrome Xp22.3 microdeletion syndrome -MONDO:0015607 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1646 partial chromosome Y deletion Partial chromosome Y deletion +MONDO:0015607 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1646 partial chromosome Y deletion Chromosome Y microdeletion MONDO:0015608 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:164726 acute myeloid leukemia and myelodysplastic syndromes related to radiation Acute myeloid leukemia and myelodysplastic syndromes related to radiation MONDO:0015609 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:164736 advanced sleep phase syndrome Familial advanced sleep-phase syndrome MONDO:0015610 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:164823 acquired aplastic anemia Rare acquired aplastic anemia @@ -4225,7 +4219,6 @@ MONDO:0015668 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0015669 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:167762 obsolete rare disease with dentinogenesis imperfecta Rare disease with dentinogenesis imperfecta MONDO:0015672 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1681 diprosopus Diprosopus MONDO:0015673 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:168194 obsolete rare cardiac tumor Rare cardiac tumor -MONDO:0015674 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:168491 late infantile neuronal ceroid lipofuscinosis Late infantile neuronal ceroid lipofuscinosis MONDO:0015675 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:1685 distomatosis Distomatosis MONDO:0015677 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1686 cardiac diverticulum Cardiac diverticulum MONDO:0015678 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:168621 dysplasia of head of femur, Meyer type Dysplasia of head of femur, Meyer type @@ -4328,7 +4321,7 @@ MONDO:0015786 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0015787 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:177926 symptomatic form of hemophilia A in female carriers Bleeding disorder in hemophilia A carriers MONDO:0015788 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:177929 symptomatic form of hemophilia B in female carriers Bleeding disorder in hemophilia B carriers MONDO:0015789 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:178025 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations -MONDO:0015790 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:178029 central diabetes insipidus Central diabetes insipidus +MONDO:0015790 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:178029 central diabetes insipidus Arginine vasopressin deficiency MONDO:0015791 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:178040 peripheral precocious puberty Rare peripheral precocious puberty MONDO:0015792 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:178045 transient congenital hypothyroidism Transient congenital hypothyroidism MONDO:0015793 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:178145 moderate multiminicore disease with hand involvement Moderate multiminicore disease with hand involvement @@ -4345,7 +4338,6 @@ MONDO:0015803 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0015804 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:178478 infant botulism Infant botulism MONDO:0015805 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:178481 intestinal botulism Intestinal botulism MONDO:0015806 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:178487 adult intestinal botulism Adult intestinal botulism -MONDO:0015807 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:178493 myopic macular degeneration Myopic macular degeneration MONDO:0015808 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:178512 folliculotropic mycosis fungoides Folliculotropic mycosis fungoides MONDO:0015809 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:178517 localized pagetoid reticulosis Localized pagetoid reticulosis MONDO:0015810 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:178522 primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma @@ -4497,7 +4489,7 @@ MONDO:0015974 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0015975 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:183663 obsolete hyper-IgM syndrome with susceptibility to opportunistic infections Hyper-IgM syndrome with susceptibility to opportunistic infections MONDO:0015976 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:183666 obsolete hyper-IgM syndrome without susceptibility to opportunistic infections Hyper-IgM syndrome without susceptibility to opportunistic infections MONDO:0015977 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:183669 agammaglobulinemia Agammaglobulinemia -MONDO:0015978 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:183681 functional neutrophil defect Functional neutrophil defect +MONDO:0015978 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:183681 functional neutrophil defect Congenital functional phagocyte defect MONDO:0015979 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:183710 obsolete hereditary predisposition to infections Genetic susceptibility to infections due to particular pathogens MONDO:0015980 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:183731 obsolete rare genetic gynecological and obstetrical diseases Rare genetic gynecological and obstetrical diseases MONDO:0015981 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:183734 obsolete inherited gynecological tumor Genetic gynecological tumor @@ -4541,7 +4533,7 @@ MONDO:0016027 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1949 b MONDO:0016029 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1957 esthesioneuroblastoma Esthesioneuroblastoma MONDO:0016030 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1959 Evans syndrome Evans syndrome MONDO:0016031 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1969 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome -MONDO:0016032 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1987 femoral agenesis/hypoplasia Femoral agenesis/hypoplasia +MONDO:0016032 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1987 femoral agenesis/hypoplasia Isolated femoral agenesis/hypoplasia MONDO:0016033 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:199 Cornelia de Lange syndrome Cornelia de Lange syndrome MONDO:0016034 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:1991 obsolete cleft lip with or without cleft palate Cleft lip with or without cleft palate MONDO:0016035 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:199244 Nelson syndrome Nelson syndrome @@ -4718,7 +4710,7 @@ MONDO:0016219 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2104 d MONDO:0016220 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:210576 congenital temporomandibular joint ankylosis Congenital temporomandibular joint ankylosis MONDO:0016221 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:210581 obsolete temporomandibular joint anomaly Temporomandibular joint anomaly MONDO:0016222 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:210584 spindle cell hemangioma Spindle cell hemangioma -MONDO:0016223 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:210589 infantile hemangioma of rare localization Infantile hemangioma of rare localization +MONDO:0016223 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:210589 infantile hemangioma of rare localization Rare infantile hemangioma MONDO:0016224 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:211037 obsolete autosomal dominant proximal spinal muscular atrophy Autosomal dominant proximal spinal muscular atrophy MONDO:0016225 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:211047 specific learning disability Specific learning disability MONDO:0016226 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:211053 specific language disorder Specific language disorder @@ -4732,10 +4724,10 @@ MONDO:0016233 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0016234 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:211266 obsolete rare arteriovenous malformation Rare arteriovenous malformation MONDO:0016235 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:211277 obsolete complex vascular malformation with associated anomalies Complex vascular malformation with associated anomalies MONDO:0016236 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2122 kaposiform hemangioendothelioma Kaposiform hemangioendothelioma -MONDO:0016237 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2123 diffuse neonatal hemangiomatosis Diffuse neonatal hemangiomatosis +MONDO:0016237 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2123 diffuse neonatal hemangiomatosis Multifocal infantile hemangioma with extracutenous involvement MONDO:0016238 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2126 solitary fibrous tumor Solitary fibrous tumor MONDO:0016239 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:213 cystinosis Cystinosis -MONDO:0016240 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:2130 hemimelia Hemimelia +MONDO:0016240 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:2130 hemimelia Non-syndromic hemimelia MONDO:0016241 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2131 alternating hemiplegia of childhood Alternating hemiplegia of childhood MONDO:0016242 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2132 hemoglobin C disease Hemoglobin C disease MONDO:0016243 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2133 hemoglobin E disease Hemoglobin E disease @@ -4848,7 +4840,7 @@ MONDO:0016379 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:222 er MONDO:0016380 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2221 acquired hypertrichosis lanuginosa Acquired hypertrichosis lanuginosa MONDO:0016381 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2222 hypertrichosis lanuginosa congenita Hypertrichosis lanuginosa congenita MONDO:0016382 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:222628 hereditary poikiloderma Hereditary poikiloderma -MONDO:0016383 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:223 nephrogenic diabetes insipidus Nephrogenic diabetes insipidus +MONDO:0016383 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:223 nephrogenic diabetes insipidus Arginine vasopressin resistance MONDO:0016384 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2230 hypogonadotropic hypogonadism-frontoparietal alopecia syndrome Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome MONDO:0016385 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2233 hypogonadism-mitral valve prolapse-intellectual disability syndrome Hypogonadism-mitral valve prolapse-intellectual disability syndrome MONDO:0016386 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2235 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome @@ -4913,11 +4905,11 @@ MONDO:0016450 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0016453 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:228371 foodborne botulism Foodborne botulism MONDO:0016454 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 Charcot-Marie-Tooth disease type 2B5 MONDO:0016455 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228379 virus-associated trichodysplasia spinulosa Virus-associated trichodysplasia spinulosa -MONDO:0016456 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228384 5q14.3 microdeletion syndrome 5q14.3 microdeletion syndrome +MONDO:0016456 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:228384 5q14.3 microdeletion syndrome 5q14.3 microdeletion syndrome MONDO:0016457 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228396 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome MONDO:0016458 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228399 8q12 microduplication syndrome 8q12 microduplication syndrome MONDO:0016459 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228402 2q23.1 microdeletion syndrome 2q23.1 microdeletion syndrome -MONDO:0016460 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228410 polyvalvular heart disease syndrome Polyvalvular heart disease syndrome +MONDO:0016460 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228410 polyvalvular heart disease syndrome Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome MONDO:0016461 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:228415 5q35 microduplication syndrome 5q35 microduplication syndrome MONDO:0016462 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:229717 isolated agammaglobulinemia Isolated agammaglobulinemia MONDO:0016463 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:229720 syndromic agammaglobulinemia Syndromic agammaglobulinemia @@ -4986,13 +4978,11 @@ MONDO:0016527 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2364 g MONDO:0016528 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2369 limb body wall complex Limb body wall complex MONDO:0016529 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:237 duplication of urethra Duplication of urethra MONDO:0016530 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2372 laryngocele Laryngocele -MONDO:0016531 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:238 digestive duplication Digestive duplication MONDO:0016532 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2382 Lennox-Gastaut syndrome Lennox-Gastaut syndrome MONDO:0016533 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:238269 apolipoprotein A-II amyloidosis AApoAII amyloidosis MONDO:0016534 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:238305 infundibulo-neurohypophysitis Infundibulo-neurohypophysitis MONDO:0016535 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:238468 hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia MONDO:0016536 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:238505 obsolete autosomal recessive lymphoproliferative disease Combined immunodeficiency due to CD27 deficiency -MONDO:0016537 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:238510 lymphoproliferative syndrome Lymphoproliferative syndrome MONDO:0016539 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:238523 atypical hypotonia-cystinuria syndrome Atypical hypotonia-cystinuria syndrome MONDO:0016540 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:238536 congenital secondary polycythemia Congenital secondary polycythemia MONDO:0016541 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:238547 acquired secondary polycythemia Acquired secondary polycythemia @@ -5438,7 +5428,6 @@ MONDO:0017037 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0017038 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:264973 obsolete secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis MONDO:0017039 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:264978 drug or radiation exposure-related interstitial lung disease Drug or radiation exposure-related interstitial lung disease MONDO:0017040 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:264984 obsolete exposure-related interstitial lung disease Exposure-related interstitial lung disease -MONDO:0017041 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2653 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome MONDO:0017042 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2655 thanatophoric dysplasia Thanatophoric dysplasia MONDO:0017043 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2665 congenital mesoblastic nephroma Congenital mesoblastic nephroma MONDO:0017044 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2666 adult familial nephronophthisis-spastic quadriparesia syndrome Adult familial nephronophthisis-spastic quadriparesia syndrome @@ -5704,7 +5693,7 @@ MONDO:0017342 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0017343 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder Epstein-Barr virus-associated malignant lymphoproliferative disorder MONDO:0017344 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:289651 Epstein-Barr virus-associated carcinoma Epstein-Barr Virus-associated carcinoma MONDO:0017345 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:289656 Epstein-Barr virus-associated mesenchymal tumor Epstein-Barr Virus-associated mesenchymal tumor -MONDO:0017346 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly +MONDO:0017346 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly Epstein-Barr virus-positive diffuse large B-cell lymphoma MONDO:0017347 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:289666 plasmablastic lymphoma Plasmablastic lymphoma MONDO:0017348 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:289682 lymphoepithelial-like carcinoma Lymphoepithelial-like carcinoma MONDO:0017349 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:289685 myopericytoma Myopericytoma @@ -5770,31 +5759,31 @@ MONDO:0017415 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0017416 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2942 postpoliomyelitis syndrome Postpoliomyelitis syndrome MONDO:0017417 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294415 renal-hepatic-pancreatic dysplasia Renal-hepatic-pancreatic dysplasia MONDO:0017418 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294422 chronic intestinal failure Chronic intestinal failure -MONDO:0017419 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:294925 non-syndromic amelia Amelia -MONDO:0017420 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:294927 obsolete intercalary limb defects Intercalary limb defects +MONDO:0017419 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:294925 non-syndromic amelia Non-syndromic amelia +MONDO:0017420 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:294927 obsolete intercalary limb defects Non-syndromic intercalary limb defects MONDO:0017427 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:294944 congenital deformities of limbs Congenital deformities of limbs MONDO:0017428 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:294947 obsolete congenital deformities of fingers Congenital deformities of fingers -MONDO:0017429 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:294949 obsolete joint formation defects Joint formation defects +MONDO:0017429 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:294949 obsolete joint formation defects Non-syndromic joint formation defects MONDO:0017430 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:294951 obsolete non-syndromic congenital joint dislocations Congenital joint dislocations -MONDO:0017431 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:294953 obsolete non-syndromic limb overgrowth Non syndromic limb overgrowth +MONDO:0017431 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:294953 obsolete non-syndromic limb overgrowth Non-syndromic limb overgrowth MONDO:0017432 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:294955 obsolete syndrome with limb reduction defects Syndrome with limb reduction defects MONDO:0017433 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:294957 obsolete dysostosis with combined reduction defects of upper and lower limbs Dysostosis with combined reduction defects of upper and lower limbs MONDO:0017434 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy MONDO:0017435 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:294963 popliteal pterygium syndrome Popliteal pterygium syndrome MONDO:0017436 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:294965 lethal congenital contracture syndrome Lethal congenital contracture syndrome -MONDO:0017437 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294967 amelia of upper limb Amelia of upper limb -MONDO:0017438 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294969 amelia of lower limb Amelia of lower limb -MONDO:0017439 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294971 tetra-amelia Tetra-amelia -MONDO:0017440 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294973 humeral agenesis/hypoplasia Humeral agenesis/hypoplasia -MONDO:0017441 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294975 congenital absence of upper arm and forearm with hand present Congenital absence of upper arm and forearm with hand present -MONDO:0017442 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294977 congenital absence of thigh and lower leg with foot present Congenital absence of thigh and lower leg with foot present -MONDO:0017443 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294979 congenital absence of both forearm and hand Congenital absence of both forearm and hand -MONDO:0017444 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294981 congenital absence of both lower leg and foot Congenital absence of both lower leg and foot -MONDO:0017445 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294983 acheiria Acheiria -MONDO:0017446 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294986 apodia Apodia -MONDO:0017447 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294988 obsolete congenital absence/hypoplasia of thumb Congenital hypoplasia of thumb +MONDO:0017437 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294967 amelia of upper limb Isolated amelia of upper limb +MONDO:0017438 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294969 amelia of lower limb Isolated amelia of lower limb +MONDO:0017439 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294971 tetra-amelia Isolated tetra-amelia +MONDO:0017440 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294973 humeral agenesis/hypoplasia Isolated humeral agenesis/hypoplasia +MONDO:0017441 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294975 congenital absence of upper arm and forearm with hand present Isolated absence of upper arm and forearm with hand present +MONDO:0017442 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294977 congenital absence of thigh and lower leg with foot present Isolated absence of thigh and lower leg with foot present +MONDO:0017443 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294979 congenital absence of both forearm and hand Isolated absence of both forearm and hand +MONDO:0017444 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294981 congenital absence of both lower leg and foot Isolated absence of both lower leg and foot +MONDO:0017445 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294983 acheiria Isolated acheiria +MONDO:0017446 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294986 apodia Isolated apodia +MONDO:0017447 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:294988 obsolete congenital absence/hypoplasia of thumb Isolated hypoplasia of thumb MONDO:0017453 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:295 fetal parvovirus syndrome Fetal parvovirus syndrome -MONDO:0017455 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:295002 hyperphalangy Hyperphalangy +MONDO:0017455 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:295002 hyperphalangy Isolated hyperphalangy MONDO:0017456 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:295004 central polydactyly of fingers Central polydactyly MONDO:0017460 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:295012 syndactyly type 6 Syndactyly type 6 MONDO:0017461 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:295014 familial isolated clinodactyly of fingers Familial isolated clinodactyly of fingers @@ -5803,7 +5792,7 @@ MONDO:0017463 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0017464 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:295022 congenital pseudoarthrosis of the fibula Congenital pseudoarthrosis of the fibula MONDO:0017465 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:295024 congenital pseudoarthrosis of the radius Congenital pseudoarthrosis of the radius MONDO:0017466 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:295026 congenital pseudoarthrosis of the ulna Congenital pseudoarthrosis of the ulna -MONDO:0017467 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:295028 tibio-fibular synostosis Tibio-fibular synostosis +MONDO:0017467 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:295028 tibio-fibular synostosis Isolated tibio-fibular synostosis MONDO:0017468 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:295030 congenital shoulder dislocation True congenital shoulder dislocation MONDO:0017469 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:295032 congenital elbow dislocation Isolated congenital radial head dislocation MONDO:0017470 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:295034 congenital knee dislocation Congenital knee dislocation @@ -5817,10 +5806,6 @@ MONDO:0017544 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0017545 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:295193 zygodactyly type 4 Zygodactyly type 4 MONDO:0017546 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:295201 congenital vertical talus, unilateral Congenital vertical talus, unilateral MONDO:0017547 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:295203 congenital vertical talus, bilateral Congenital vertical talus, bilateral -MONDO:0017552 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:295213 humero-ulnar synostosis, unilateral Humero-ulnar synostosis, unilateral -MONDO:0017553 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:295215 humero-ulnar synostosis, bilateral Humero-ulnar synostosis, bilateral -MONDO:0017554 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:295217 radio-ulnar synostosis, unilateral Radio-ulnar synostosis, unilateral -MONDO:0017555 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:295219 radio-ulnar synostosis, bilateral Radio-ulnar synostosis, bilateral MONDO:0017558 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:295225 congenital elbow dislocation, unilateral Congenital elbow dislocation, unilateral MONDO:0017559 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:295227 congenital elbow dislocation, bilateral Congenital elbow dislocation, bilateral MONDO:0017560 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:295229 congenital genu recurvatum Congenital genu recurvatum @@ -6047,7 +6032,7 @@ MONDO:0017805 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:314575 MONDO:0017806 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:314585 15q overgrowth syndrome 15q overgrowth syndrome MONDO:0017807 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:314613 growing teratoma syndrome Growing teratoma syndrome MONDO:0017808 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:314621 duplication of the pituitary gland Duplication of the pituitary gland -MONDO:0017809 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:314632 parkinsonism due to ATP13A2 deficiency ATP13A2-related juvenile neuronal ceroid lipofuscinosis +MONDO:0017809 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:314632 parkinsonism due to ATP13A2 deficiency CLN12 disease MONDO:0017810 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:314652 variant ABeta2M amyloidosis Variant ABeta2M amyloidosis MONDO:0017811 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:314655 severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion MONDO:0017812 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:314662 segmental progressive overgrowth syndrome with fibroadipose hyperplasia Segmental progressive overgrowth syndrome with fibroadipose hyperplasia @@ -6208,8 +6193,8 @@ MONDO:0017978 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0017979 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3261 autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome MONDO:0017980 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3262 syngnathia multiple anomalies Dobrow syndrome MONDO:0017981 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3263 syngnathia-cleft palate syndrome Syngnathia-cleft palate syndrome -MONDO:0017983 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3266 humero-radio-ulnar synostosis Humero-radio-ulnar synostosis -MONDO:0017985 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3269 congenital radioulnar synostosis Congenital radioulnar synostosis +MONDO:0017983 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3266 humero-radio-ulnar synostosis Isolated humero-radio-ulnar synostosis +MONDO:0017985 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3269 congenital radioulnar synostosis Isolated radio-ulnar synostosis MONDO:0017986 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:3276 disorder of plasmalogens biosynthesis Disorder of plasmalogens biosynthesis MONDO:0017987 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:3280 syringomyelia Syringomyelia MONDO:0017988 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3282 multifocal atrial tachycardia Multifocal atrial tachycardia @@ -6226,7 +6211,7 @@ MONDO:0017999 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:329308 MONDO:0018000 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:329319 hereditary thrombocytosis with transverse limb defect Thrombocythemia with distal limb defects MONDO:0018001 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:329324 inverse Klippel-Trenaunay syndrome Inverse Klippel-Trénaunay syndrome MONDO:0018002 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:329336 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy -MONDO:0018004 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:329469 acute megakaryoblastic leukemia without down syndrome Acute megakaryoblastic leukemia without Down syndrome +MONDO:0018004 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:329469 acute megakaryoblastic leukemia without down syndrome Acute megakaryoblastic leukemia in children without Down syndrome MONDO:0018005 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:329475 spastic paraplegia-Paget disease of bone syndrome Spastic paraplegia-Paget disease of bone syndrome MONDO:0018006 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:329478 adult-onset distal myopathy due to VCP mutation Adult-onset distal myopathy due to VCP mutation MONDO:0018007 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:329813 mosaic genome-wide paternal uniparental disomy Mosaic genome-wide paternal uniparental disomy @@ -6253,17 +6238,17 @@ MONDO:0018028 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3309 t MONDO:0018029 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:331 congenital factor XIII deficiency Congenital factor XIII deficiency MONDO:0018030 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3310 tetrasomy 9p Tetrasomy 9p MONDO:0018031 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:33111 granulomatous slack skin disease Granulomatous slack skin -MONDO:0018032 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations Constitutional neutropenia with extra-hematopoietic manifestations +MONDO:0018032 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations Syndrome with congenital neutropenia as a major feature MONDO:0018033 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:331193 obsolete other immunodeficiency syndromes due to defects in innate immunity Other immunodeficiency syndromes due to defects in innate immunity MONDO:0018034 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3312 thalidomide embryopathy Thalidomide embryopathy MONDO:0018035 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:331217 obsolete syndrome with combined immunodeficiency Syndrome with combined immunodeficiency -MONDO:0018036 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:331220 obsolete immunodeficiency due to absence of thymus Immunodeficiency due to absence of thymus +MONDO:0018036 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:331220 obsolete immunodeficiency due to absence of thymus Syndome with combined immunodeficiency due to thymic defect MONDO:0018037 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:331223 hyper-IgE syndrome Hyper-IgE syndrome MONDO:0018038 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:331232 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells MONDO:0018039 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:331235 selective IgM deficiency Selective IgM deficiency MONDO:0018040 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:331240 obsolete immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells MONDO:0018041 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:331244 obsolete other immunodeficiency syndrome with predominantly antibody defects Other immunodeficiency syndrome with predominantly antibody defects -MONDO:0018042 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:331249 obsolete immunodeficiency syndrome with abnormal pigmentation Immunodeficiency syndrome with hypopigmentation +MONDO:0018042 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:331249 obsolete immunodeficiency syndrome with abnormal pigmentation Primary hemophagocytic lymphohistiocytosis with hypopigmentation MONDO:0018043 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3316 Thomas syndrome Thomas syndrome MONDO:0018044 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:33208 idiopathic hypersomnia Idiopathic hypersomnia MONDO:0018045 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3322 Hoyeraal-Hreidarsson syndrome Hoyeraal-Hreidarsson syndrome @@ -6287,7 +6272,7 @@ MONDO:0018067 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3376 t MONDO:0018068 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3378 trisomy 13 Trisomy 13 MONDO:0018069 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3379 distal trisomy 17q Distal duplication 17q MONDO:0018071 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3380 trisomy 18 Trisomy 18 -MONDO:0018072 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3384 persistent truncus arteriosus Truncus arteriosus +MONDO:0018072 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3384 persistent truncus arteriosus Common arterial trunk MONDO:0018075 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:3388 neural tube defect Neural tube defect MONDO:0018076 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:3389 tuberculosis Tuberculosis MONDO:0018077 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3392 tularemia Tularemia @@ -6306,7 +6291,6 @@ MONDO:0018089 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3426 d MONDO:0018090 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3427 double outlet left ventricle Double outlet left ventricle MONDO:0018091 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3433 microcephaly-brachydactyly-kyphoscoliosis syndrome Microcephaly-brachydactyly-kyphoscoliosis syndrome MONDO:0018092 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3437 Vogt-Koyanagi-Harada disease Vogt-Koyanagi-Harada disease -MONDO:0018093 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:344 arbovirus fever Arbovirus fever MONDO:0018094 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3440 Waardenburg syndrome Waardenburg syndrome MONDO:0018095 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3448 Weaver-Williams syndrome Weaver-Williams syndrome MONDO:0018096 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3449 Weill-Marchesani syndrome Weill-Marchesani syndrome @@ -6430,7 +6414,6 @@ MONDO:0018234 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0018235 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature Dysostosis with limb anomaly as a major feature MONDO:0018236 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:364571 obsolete dysostosis with limb and face anomalies as a major feature Dysostosis with limb and face anomalies as a major feature MONDO:0018237 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:364574 acrofacial dysostosis Acrofacial dysostosis -MONDO:0018239 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:364817 obsolete aggrecan-related bone disorder Aggrecan-related bone disorder MONDO:0018240 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:364820 TRPV4-related bone disorder TRPV4-related bone disorder MONDO:0018241 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:365563 obsolete primary short bowel syndrome Primary short bowel syndrome MONDO:0018242 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:36913 autoimmune hypoparathyroidism Autoimmune hypoparathyroidism @@ -6655,7 +6638,7 @@ MONDO:0018490 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:420794 MONDO:0018492 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:422526 hereditary clear cell renal cell carcinoma Hereditary clear cell renal cell carcinoma MONDO:0018493 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:423 malignant hyperthermia of anesthesia Malignant hyperthermia of anesthesia MONDO:0018494 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:423306 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome -MONDO:0018495 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome +MONDO:0018495 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency MONDO:0018496 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:423655 obsolete ARX-related encephalopathy-brain malformation spectrum ARX-related encephalopathy-brain malformation spectrum MONDO:0018497 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:423662 obsolete rare autonomic nervous system disorder Rare autonomic nervous system disorder MONDO:0018498 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:423693 double outlet right ventricle with subaortic or doubly committed ventricular septal defect Double outlet right ventricle with subaortic or doubly committed ventricular septal defect @@ -6722,7 +6705,7 @@ MONDO:0018567 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:435819 MONDO:0018569 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome MONDO:0018570 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:436 hypophosphatasia Hypophosphatasia MONDO:0018571 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:436003 contractures-developmental delay-Pierre Robin syndrome Contractures-developmental delay-Pierre Robin syndrome -MONDO:0018572 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:436141 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome +MONDO:0018572 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:436141 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome HIDEA syndrome MONDO:0018573 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:436144 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome MONDO:0018574 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:436151 obsolete intellectual disability-expressive aphasia-facial dysmorphism syndrome Intellectual disability-expressive aphasia-facial dysmorphism syndrome MONDO:0018575 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:436182 obsolete microcephalic primordial dwarfism-insulin resistance syndrome Microcephalic primordial dwarfism-insulin resistance syndrome @@ -6781,7 +6764,7 @@ MONDO:0018632 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:444002 MONDO:0018633 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:444051 20q11.2 microdeletion syndrome 20q11.2 microdeletion syndrome MONDO:0018634 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:444116 hereditary amyloidosis Hereditary amyloidosis MONDO:0018635 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:444316 idiopathic phalangeal acro-osteolysis Idiopathic phalangeal acro-osteolysis -MONDO:0018636 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:444463 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome +MONDO:0018636 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:444463 autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency MONDO:0018637 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:444490 familial chylomicronemia syndrome Familial chylomicronemia syndrome MONDO:0018638 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:444916 pseudohypoaldosteronism Pseudohypoaldosteronism MONDO:0018639 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:444941 caudal regression-sirenomelia spectrum Caudal regression-sirenomelia spectrum @@ -6851,11 +6834,10 @@ MONDO:0018710 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:457359 MONDO:0018711 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:457365 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome MONDO:0018712 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:458758 composite hemangioendothelioma Composite hemangioendothelioma MONDO:0018713 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:458763 retiform hemangioendothelioma Retiform hemangioendothelioma -MONDO:0018714 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:458768 primary intralymphatic angioendothelioma Primary intralymphatic angioendothelioma +MONDO:0018714 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:458768 primary intralymphatic angioendothelioma Papillary intralymphatic angioendothelioma MONDO:0018715 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:458775 congenital hemangioma Congenital hemangioma MONDO:0018716 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:458785 partially involuting congenital hemangioma Partially involuting congenital hemangioma MONDO:0018717 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:458792 mixed cystic lymphatic malformation Mixed cystic lymphatic malformation -MONDO:0018718 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:458827 obsolete vascular tumor with associated anomalies Vascular tumor with associated anomalies MONDO:0018719 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:458830 obsolete obsolete rare capillary malformation with associated anomalies Rare capillary malformation with associated anomalies MONDO:0018720 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:458833 obsolete common cystic lymphatic malformation Common cystic lymphatic malformation MONDO:0018721 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:458837 obsolete rare combined vascular malformation Rare combined vascular malformation @@ -6919,8 +6901,8 @@ MONDO:0018783 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:477650 MONDO:0018784 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:477738 pediatric multiple sclerosis Pediatric multiple sclerosis MONDO:0018787 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:477754 obsolete genetic cerebral small vessel disease Genetic cerebral small vessel disease MONDO:0018788 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:477759 obsolete COL4A1 or COL4A2-related cerebral small vessel disease COL4A1 or COL4A2-related cerebral small vessel disease -MONDO:0018789 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:477762 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy -MONDO:0018790 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:477765 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy +MONDO:0018789 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:477762 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency +MONDO:0018790 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:477765 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency MONDO:0018791 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:477768 obsolete Moyomoya angiopathy Moyamoya angiopathy MONDO:0018792 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:477771 obsolete Moyamoya syndrome Rare disorder with a moyamoya angiopathy MONDO:0018793 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:477781 primary condylar hyperplasia Primary condylar hyperplasia @@ -7017,7 +6999,7 @@ MONDO:0018896 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:54057 MONDO:0018897 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:541 primary cutaneous CD30+ T-cell lymphoproliferative disease Primary cutaneous CD30+ T-cell lymphoproliferative disease MONDO:0018898 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:542 primary cutaneous lymphoma Primary cutaneous lymphoma MONDO:0018899 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:54247 posterior cortical atrophy Posterior cortical atrophy -MONDO:0018900 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:54251 corticosteroid-sensitive aseptic abscess syndrome Corticosteroid-sensitive aseptic abscess syndrome +MONDO:0018900 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:54251 corticosteroid-sensitive aseptic abscess syndrome Aseptic abscess syndrome MONDO:0018901 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:54260 left ventricular noncompaction Left ventricular noncompaction MONDO:0018902 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:54272 hepatocellular adenoma Hepatocellular adenoma MONDO:0018903 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:54368 sarcocystosis Sarcocystosis @@ -7070,7 +7052,7 @@ MONDO:0018953 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:60015 MONDO:0018954 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:60030 Loeys-Dietz syndrome Loeys-Dietz syndrome MONDO:0018955 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:60032 recurrent respiratory papillomatosis Recurrent respiratory papillomatosis MONDO:0018956 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:60033 idiopathic bronchiectasis Idiopathic bronchiectasis -MONDO:0018957 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:60039 pudendal neuralgia Pudendal neuralgia +MONDO:0018957 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:60039 pudendal neuralgia Pudendal nerve entrapment syndrome MONDO:0018958 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:607 nemaline myopathy Nemaline myopathy MONDO:0018959 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:612 potassium-aggravated myotonia Potassium-aggravated myotonia MONDO:0018960 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:617 congenital primary megaureter Congenital primary megaureter @@ -7093,7 +7075,7 @@ MONDO:0018980 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:64542 MONDO:0018981 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:64545 benign idiopathic neonatal seizures Benign idiopathic neonatal seizures MONDO:0018982 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:646 Niemann-Pick disease type C Niemann-Pick disease type C MONDO:0018983 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:64686 Tolosa-Hunt syndrome Tolosa-Hunt syndrome -MONDO:0018984 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:64692 Oroya fever Oroya fever +MONDO:0018984 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:64692 Oroya fever Bartonella bacilliformis infection MONDO:0018987 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:64722 granulomatous mastitis Granulomatous mastitis MONDO:0018988 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:64734 iridocorneal endothelial syndrome Iridocorneal endothelial syndrome MONDO:0018991 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:64743 hepatoportal sclerosis Hepatoportal sclerosis @@ -7105,7 +7087,6 @@ MONDO:0018996 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:64753 MONDO:0018997 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:648 Noonan syndrome Noonan syndrome MONDO:0018998 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:65 Leber congenital amaurosis Leber congenital amaurosis MONDO:0018999 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:650 LCAT deficiency LCAT deficiency -MONDO:0019000 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:65250 perineural cyst Perineural cyst MONDO:0019002 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:65285 Lhermitte-Duclos disease Lhermitte-Duclos disease MONDO:0019003 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:653 multiple endocrine neoplasia type 2 Multiple endocrine neoplasia type 2 MONDO:0019004 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:654 kidney Wilms tumor Nephroblastoma @@ -7160,7 +7141,7 @@ MONDO:0019059 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0019060 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:68411 bone neoplasm Rare bone tumor MONDO:0019061 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:68415 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly Rare parathyroid disease and phosphocalcic metabolism anomaly MONDO:0019062 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:68416 obsolete rare infectious disease Rare infectious disease -MONDO:0019063 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:68419 obsolete vascular anomaly Vascular anomaly or angioma +MONDO:0019063 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:68419 obsolete vascular anomaly Rare vascular anomaly MONDO:0019064 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:685 hereditary spastic paraplegia Hereditary spastic paraplegia MONDO:0019065 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:69 amyloidosis Amyloidosis MONDO:0019066 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:69028 obsolete syndrome with brachydactyly Dysostosis with brachydactyly @@ -7334,9 +7315,6 @@ MONDO:0019256 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0019257 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79230 hemochromatosis type 2 HJV or HAMP-related hemochromatosis MONDO:0019258 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:79253 mild phenylketonuria Mild phenylketonuria MONDO:0019259 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:79254 classic phenylketonuria Classic phenylketonuria -MONDO:0019260 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79262 adult neuronal ceroid lipofuscinosis Adult neuronal ceroid lipofuscinosis -MONDO:0019261 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79263 infantile neuronal ceroid lipofuscinosis Infantile neuronal ceroid lipofuscinosis -MONDO:0019262 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79264 juvenile neuronal ceroid lipofuscinosis Juvenile neuronal ceroid lipofuscinosis MONDO:0019263 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79278 autosomal erythropoietic protoporphyria Autosomal erythropoietic protoporphyria MONDO:0019264 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:79281 alpha-N-acetylgalactosaminidase deficiency type 3 Alpha-N-acetylgalactosaminidase deficiency type 3 MONDO:0019265 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:79298 diazoxide-resistant focal hyperinsulinism Diazoxide-resistant focal hyperinsulinism @@ -7465,7 +7443,6 @@ MONDO:0019408 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85175 MONDO:0019409 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85193 idiopathic juvenile osteoporosis Idiopathic juvenile osteoporosis MONDO:0019411 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85197 genochondromatosis type 1 Genochondromatosis type 1 MONDO:0019412 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85198 dysspondyloenchondromatosis Dysspondyloenchondromatosis -MONDO:0019413 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85200 ischio-vertebral syndrome Ischiovertebral syndrome MONDO:0019414 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85284 BRESEK syndrome BRESEK syndrome MONDO:0019415 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:853 fetal and neonatal alloimmune thrombocytopenia Fetal and neonatal alloimmune thrombocytopenia MONDO:0019416 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome @@ -7490,7 +7467,7 @@ MONDO:0019437 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85438 MONDO:0019438 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85443 AL amyloidosis AL amyloidosis MONDO:0019439 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85445 AA amyloidosis AA amyloidosis MONDO:0019440 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85446 wild type ABeta2M amyloidosis Wild type ABeta2M amyloidosis -MONDO:0019441 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85451 ATTRV122I amyloidosis ATTRV122I amyloidosis +MONDO:0019441 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:85451 ATTRV122I amyloidosis ATTRV122I amyloidosis MONDO:0019443 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:860 dextro-looped transposition of the great arteries Congenitally uncorrected transposition of the great arteries MONDO:0019444 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:863 trichinellosis Trichinellosis MONDO:0019445 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:864 trichofolliculoma Trichofolliculoma @@ -7502,7 +7479,7 @@ MONDO:0019450 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0019451 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:86829 chronic neutrophilic leukemia Chronic neutrophilic leukemia MONDO:0019452 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:86830 myeloproliferative neoplasm, unclassifiable Chronic myeloproliferative disease, unclassifiable MONDO:0019453 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:86836 myelodysplastic syndrome with multilineage dysplasia Refractory cytopenia with multilineage dysplasia -MONDO:0019454 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:86839 myelodysplastic syndrome with excess blasts Refractory anemia with excess blasts +MONDO:0019454 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:86839 myelodysplastic syndrome with excess blasts Myelodysplastic neoplasm with increased blasts MONDO:0019455 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:86843 acute panmyelosis with myelofibrosis Acute panmyelosis with myelofibrosis MONDO:0019456 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:86845 acute myeloid leukemia with multilineage dysplasia Acute myeloid leukaemia with myelodysplasia-related features MONDO:0019457 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:86846 therapy related acute myeloid leukemia and myelodysplastic syndrome Therapy related acute myeloid leukemia and myelodysplastic syndrome @@ -7683,9 +7660,9 @@ MONDO:0019666 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93282 MONDO:0019667 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93284 spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda MONDO:0019668 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93292 adenoma of pancreas Adenoma of pancreas MONDO:0019669 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:93297 hypochondrogenesis Hypochondrogenesis -MONDO:0019670 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93320 ulnar hemimelia Ulnar hemimelia -MONDO:0019671 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93321 radial hemimelia Radial hemimelia -MONDO:0019672 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93323 fibular hemimelia Fibular hemimelia +MONDO:0019670 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93320 ulnar hemimelia Isolated ulnar hemimelia +MONDO:0019671 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93321 radial hemimelia Isolated radial hemimelia +MONDO:0019672 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93323 fibular hemimelia Isolated fibular hemimelia MONDO:0019673 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93334 postaxial polydactyly type A Postaxial polydactyly type A MONDO:0019674 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93335 postaxial polydactyly type B Postaxial polydactyly type B MONDO:0019676 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93383 brachydactyly type B Brachydactyly type B @@ -7697,7 +7674,6 @@ MONDO:0019682 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0019684 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:93419 obsolete rare bone disease Rare bone disease MONDO:0019685 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:93420 FGFR3-related chondrodysplasia FGFR3-related chondrodysplasia MONDO:0019688 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:93423 obsolete sulfation-related bone disorder Sulfation-related bone disorder -MONDO:0019689 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:93424 obsolete perlecan-related bone disorder Perlecan-related bone disorder MONDO:0019690 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:93425 filamin-related bone disorder Filamin-related bone disorder MONDO:0019691 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:93426 short rib dysplasia Ciliopathies with major skeletal involvement MONDO:0019692 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:93429 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia Multiple epiphyseal dysplasia and pseudoachondroplasia @@ -7735,7 +7711,6 @@ MONDO:0019731 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0019732 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:93561 ALys amyloidosis ALys amyloidosis MONDO:0019733 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:93562 AFib amyloidosis AFib amyloidosis MONDO:0019734 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93568 juvenile polymyositis Juvenile polymyositis -MONDO:0019735 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93569 polymyalgia rheumatica Polymyalgia rheumatica MONDO:0019736 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:93571 dense deposit disease Dense deposit disease MONDO:0019737 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:93573 thrombotic microangiopathy Thrombotic microangiopathy MONDO:0019739 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:93581 atypical hemolytic-uremic syndrome with anti-factor H antibodies Atypical hemolytic uremic syndrome with anti-factor H antibodies @@ -7770,7 +7745,7 @@ MONDO:0019771 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93958 MONDO:0019772 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93964 blepharospasm-oromandibular dystonia syndrome Blepharospasm-oromandibular dystonia syndrome MONDO:0019773 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93969 myelomeningocele Open spinal dysraphism with a myelomeningocele MONDO:0019780 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93976 anotia Anotia -MONDO:0019782 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:94056 humero-ulnar synostosis Humero-ulnar synostosis +MONDO:0019782 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:94056 humero-ulnar synostosis Isolated humero-ulnar synostosis MONDO:0019783 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:94058 neovascular glaucoma Neovascular glaucoma MONDO:0019784 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:94063 12q14 microdeletion syndrome 12q14 microdeletion syndrome MONDO:0019786 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:94066 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia @@ -7785,7 +7760,6 @@ MONDO:0019794 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0019795 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:945 acalvaria Acalvaria MONDO:0019797 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:950 acrodysostosis Acrodysostosis MONDO:0019799 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:95159 hepatoerythropoietic porphyria Hepatoerythropoietic porphyria -MONDO:0019800 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:95161 obsolete chronic hepatic porphyria Chronic hepatic porphyria MONDO:0019801 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:95409 acute adrenal insufficiency Acute adrenal insufficiency MONDO:0019802 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:95427 secondary short bowel syndrome Secondary short bowel syndrome MONDO:0019803 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:95429 angioma serpiginosum Angioma serpiginosum @@ -7825,11 +7799,11 @@ MONDO:0019841 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0019843 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:95617 obsolete pituitary hormone deficiency secondary to a granulomatous disease Pituitary hormone deficiency secondary to a granulomatous disease MONDO:0019844 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:95618 obsolete pituitary hormone deficiency secondary to storage disease Pituitary hormone deficiency secondary to storage disease MONDO:0019845 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:95619 iatrogenic or traumatic pituitary deficiency Post-traumatic pituitary deficiency -MONDO:0019846 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:95626 acquired central diabetes insipidus Acquired central diabetes insipidus +MONDO:0019846 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:95626 acquired central diabetes insipidus Acquired arginine vasopressin deficiency MONDO:0019848 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:95706 posterior hypospadias Non-syndromic posterior hypospadias MONDO:0019849 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:95707 isolated micropenis Idiopathic isolated micropenis -MONDO:0019851 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:95709 acquired primary ovarian failure Acquired premature ovarian failure -MONDO:0019852 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:95710 inherited primary ovarian failure Non-acquired premature ovarian failure +MONDO:0019851 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:95709 acquired primary ovarian failure Rare acquired premature ovarian failure +MONDO:0019852 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:95710 inherited primary ovarian failure Rare non-acquired premature ovarian failure MONDO:0019853 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:95711 obsolete congenital hypothyroidism due to developmental anomaly Congenital hypothyroidism due to developmental anomaly MONDO:0019854 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:95712 thyroid ectopia Thyroid ectopia MONDO:0019855 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:95713 athyreosis Athyreosis @@ -8216,7 +8190,6 @@ MONDO:0020361 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0020362 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:98951 inverse Marcus-Gunn phenomenon Inverse Marcus-Gunn phenomenon MONDO:0020363 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98958 honey-droplet corneal dystrophy Climatic droplet keratopathy MONDO:0020364 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98973 posterior polymorphous corneal dystrophy Posterior polymorphous corneal dystrophy -MONDO:0020365 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98975 congenital hereditary endothelial dystrophy type I Congenital hereditary endothelial dystrophy type I MONDO:0020367 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98977 juvenile open angle glaucoma Juvenile glaucoma MONDO:0020368 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98978 Axenfeld anomaly Axenfeld anomaly MONDO:0020369 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:98979 Chandler syndrome Chandler syndrome @@ -8314,7 +8287,6 @@ MONDO:0020468 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99324 MONDO:0020469 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99329 48,XYYY syndrome 48,XYYY syndrome MONDO:0020470 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99330 49,XYYYY syndrome 49,XYYYY syndrome MONDO:0020472 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:99413 Turner syndrome due to structural X chromosome anomalies Turner syndrome due to structural X chromosome anomalies -MONDO:0020474 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99647 cheirospondyloenchondromatosis Cheirospondyloenchondromatosis MONDO:0020475 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99688 dermotrichic syndrome Dermotrichic syndrome MONDO:0020476 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99701 mesial temporal lobe epilepsy with hippocampal sclerosis Mesial temporal lobe epilepsy with hippocampal sclerosis MONDO:0020478 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99718 Leber plus disease Leber plus disease @@ -8350,7 +8322,7 @@ MONDO:0020511 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99860 MONDO:0020512 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99861 precursor T-cell acute lymphoblastic leukemia Precursor T-cell acute lymphoblastic leukemia MONDO:0020513 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99865 spermatocytic seminoma Spermatocytic seminoma MONDO:0020516 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99869 thymic neuroendocrine carcinoma Thymic neuroendocrine carcinoma -MONDO:0020526 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:99887 acute megakaryoblastic leukemia in down syndrome Acute megakaryoblastic leukemia in Down syndrome +MONDO:0020526 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:99887 acute megakaryoblastic leukemia in down syndrome Acute megakaryoblastic leukemia in children with Down syndrome MONDO:0020527 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99889 ectopic Cushing syndrome Cushing syndrome due to ectopic ACTH secretion MONDO:0020528 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:99892 ACTH-dependent Cushing syndrome ACTH-dependent Cushing syndrome MONDO:0020529 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:647758 ACTH-independent Cushing syndrome Adrenal Cushing syndrome @@ -8373,7 +8345,7 @@ MONDO:0020549 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99925 MONDO:0020550 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99926 gestational choriocarcinoma Gestational choriocarcinoma MONDO:0020552 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99928 placental site trophoblastic tumor Placental site trophoblastic tumor MONDO:0020553 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99930 secondary pulmonary hemosiderosis Secondary pulmonary hemosiderosis -MONDO:0020554 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:99932 Heiner syndrome Heiner syndrome +MONDO:0020554 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99932 Heiner syndrome Heiner syndrome MONDO:0020555 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:99933 pleuropulmonary blastoma type 1 Pleuropulmonary blastoma type 1 MONDO:0020556 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:99934 pleuropulmonary blastoma type 2 Pleuropulmonary blastoma type 2 MONDO:0020557 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:99935 pleuropulmonary blastoma type 3 Pleuropulmonary blastoma type 3 @@ -8481,7 +8453,7 @@ MONDO:0024503 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0024504 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:506090 enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor Serotonin-producing neuroendocrine tumor of pancreas MONDO:0024537 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:572543 Brown-Vialetto-van Laere syndrome 1 RFVT2-related riboflavin transporter deficiency MONDO:0024548 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:263553 peeling skin syndrome 1 Peeling skin syndrome type B -MONDO:0024551 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency X-linked lymphoproliferative disease due to SH2D1A deficiency +MONDO:0024551 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency X-linked lymphoproliferative disease due to SAP deficiency MONDO:0024557 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:251347 ataxia-telangiectasia-like disorder 1 Ataxia-telangiectasia-like disorder MONDO:0024559 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:229 aortic aneurysm, familial thoracic 1 Familial aortic dissection MONDO:0024568 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:370088 infantile liver failure syndrome 1 Acute infantile liver failure-multisystemic involvement syndrome @@ -8596,10 +8568,9 @@ MONDO:0032688 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:636941 MONDO:0032705 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:597874 neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome MONDO:0032714 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:598603 facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome MONDO:0032716 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:615964 leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate -MONDO:0032724 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:642085 spondyloepimetaphyseal dysplasia with joint laxity, type 3 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type +MONDO:0032724 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:642085 spondyloepimetaphyseal dysplasia with joint laxity, type 3 EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity MONDO:0032726 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:565624 combined oxidative phosphorylation deficiency 39 Combined oxidative phosphorylation defect type 39 MONDO:0032737 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:631068 spastic paraplegia 80, autosomal dominant Autosomal dominant spastic paraplegia type 80 -MONDO:0032780 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:656273 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome MONDO:0032814 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:477749 microangiopathy and leukoencephalopathy, pontine, autosomal dominant Pontine autosomal dominant microangiopathy with leukoencephalopathy MONDO:0032819 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:99832 hypothyroidism, congenital, nongoitrous, 7 Resistance to thyrotropin-releasing hormone syndrome MONDO:0032830 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:656135 snijders blok-fisher syndrome Intellectual disability-cupped ears syndrome @@ -8678,11 +8649,11 @@ MONDO:0034204 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:563708 MONDO:0034212 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:565782 methotrexate toxicity Methotrexate toxicity MONDO:0034216 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:566231 resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha MONDO:0034217 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:566243 obsolete resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta -MONDO:0034443 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:485382 obsolete genetic non-acquired premature ovarian failure Genetic premature ovarian failure +MONDO:0034443 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:485382 obsolete genetic non-acquired premature ovarian failure Rare genetic premature ovarian failure MONDO:0034641 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:496916 obsolete rare genetic hyperkinetic movement disorder Rare genetic hyperkinetic movement disorder MONDO:0034661 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:498350 obsolete syndromic biliary atresia Syndromic biliary atresia -MONDO:0034667 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:498457 obsolete longitudinal limb defect Longitudinal limb defect -MONDO:0034668 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:498461 obsolete terminal transverse limb defect Terminal transverse limb defect +MONDO:0034667 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:498457 obsolete longitudinal limb defect Non-syndromic longitudinal limb defect +MONDO:0034668 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:498461 obsolete terminal transverse limb defect Non-syndromic terminal transverse limb defect MONDO:0034669 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:498464 obsolete non-syndromic preaxial polydactyly Non-syndromic preaxial polydactyly MONDO:0034670 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:498467 obsolete non-syndromic postaxial polydactyly Non-syndromic postaxial polydactyly MONDO:0034671 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:498470 obsolete non-syndromic complex polydactyly Non-syndromic complex polydactyly @@ -8853,8 +8824,6 @@ MONDO:0035663 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0035664 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:592856 neuromyelitis optica spectrum disorder with anti-MOG antibodies Neuromyelitis optica spectrum disorder with anti-MOG antibodies MONDO:0035665 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:592869 neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies MONDO:0035666 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:592873 acute transverse myelitis with anti-MOG antibodies Acute transverse myelitis with anti-MOG antibodies -MONDO:0035667 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:592885 isolated optic neuritis without anti-MOG antibodies Isolated optic neuritis without anti-MOG antibodies -MONDO:0035668 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:592888 isolated optic neuritis with anti-MOG antibodies Isolated optic neuritis with anti-MOG antibodies MONDO:0035669 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:592894 acute disseminated encephalomyelitis with anti-MOG antibodies Acute disseminated encephalomyelitis with anti-MOG antibodies MONDO:0035670 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:592900 acute disseminated encephalomyelitis without anti-MOG antibodies Acute disseminated encephalomyelitis without anti-MOG antibodies MONDO:0035678 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:595098 Timothy syndrome type 1 Timothy syndrome type 1 @@ -8944,12 +8913,12 @@ MONDO:0043330 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:521219 MONDO:0043373 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:90059 sudden sensorineural hearing loss Sudden sensorineural hearing loss MONDO:0043459 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:521132 radiation-induced disorder Radiation-induced disorder MONDO:0043797 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:90058 spinal cord injury Spinal cord injury -MONDO:0044067 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:636945 candidiasis, invasive Invasive Candidiasis +MONDO:0044067 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:636945 candidiasis, invasive Invasive candidiasis MONDO:0044200 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:317416 T-B+ severe combined immunodeficiency T-B+ severe combined immunodeficiency MONDO:0044201 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:397802 T+ B+ severe combined immunodeficiency T+ B+ severe combined immunodeficiency MONDO:0044202 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98809 episodic kinesigenic dyskinesia Paroxysmal kinesigenic dyskinesia MONDO:0044300 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:480536 familial adenomatous polyposis 4 MSH3-related attenuated familial adenomatous polyposis -MONDO:0044302 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:646278 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome +MONDO:0044302 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:646278 congenital heart defects, dysmorphic facial features, and intellectual developmental disorder CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome MONDO:0044304 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:508523 hyperphenylalaninemia due to DNAJC12 deficiency Hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0044306 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:500545 neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract MONDO:0044318 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:653767 intellectual developmental disorder with gastrointestinal difficulties and high pain threshold Jansen-de Vries syndrome @@ -8995,13 +8964,13 @@ MONDO:0044663 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:498359 MONDO:0044675 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:498481 LRP5-related primary osteoporosis LRP5-related primary osteoporosis MONDO:0044682 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome MONDO:0044685 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:499047 autoimmune/inflammatory optic neuropathy Autoimmune/inflammatory optic neuropathy -MONDO:0044687 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:499085 chronic relapsing inflammatory optic neuropathy Chronic relapsing inflammatory optic neuropathy +MONDO:0044687 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:499085 chronic relapsing inflammatory optic neuropathy Chronic relapsing inflammatory optic neuritis MONDO:0044688 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:499096 isolated optic neuritis Isolated optic neuritis MONDO:0044689 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:499103 recurrent idiopathic neuroretinitis Recurrent idiopathic neuroretinitis MONDO:0044690 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:499107 optic perineuritis Idiopathic optic perineuritis MONDO:0044696 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:500144 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome MONDO:0044699 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:500163 SIN3A-related intellectual disability syndrome Witteveen-Kolk syndrome -MONDO:0044700 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation SIN3A-related intellectual disability syndrome due to a point mutation +MONDO:0044700 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation SIN3-related intellectual disability syndrome due to a point mutation MONDO:0044701 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:500180 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO:0044702 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome MONDO:0044704 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:500478 oropharynx squamous cell carcinoma Squamous cell carcinoma of the oropharynx @@ -9050,7 +9019,7 @@ MONDO:0060564 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:528105 MONDO:0060568 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:529965 Pilarowski-Bjornsson syndrome Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome MONDO:0060578 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:572798 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures WARS2-related combined oxidative phosphorylation defect MONDO:0060582 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:542585 auditory neuropathy-optic atrophy syndrome Auditory neuropathy-optic atrophy syndrome -MONDO:0060611 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:658813 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia Methylenetetrahydrofolate dehydrogenase 1 deficiency +MONDO:0060611 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:658813 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency MONDO:0060622 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:647788 neurodevelopmental disorder with severe motor impairment and absent language Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome MONDO:0060627 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:529665 glycosylphosphatidylinositol biosynthesis defect 15 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome MONDO:0060631 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:610569 Alkuraya-Kucinskas syndrome KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome @@ -9101,7 +9070,7 @@ MONDO:0100508 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:213557 MONDO:0100512 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:254871 mitochondrial DNA depletion syndrome, hepatocerebral form Mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:0100527 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:2204 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type MONDO:0100528 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:500055 Hao-Fountain syndrome due to 16p13.2 microdeletion Hao-Fountain syndrome due to 16p13.2 microdeletion -MONDO:0100552 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:85447 ATTRV30M amyloidosis ATTRV30M amyloidosis +MONDO:0100552 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:85447 ATTRV30M amyloidosis ATTRV30M amyloidosis MONDO:0100566 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:86909 myoclonic epilepsy in infancy Myoclonic epilepsy of infancy MONDO:0100567 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:528647 hereditary angioedema with normal C1Inh Hereditary angioedema with normal C1Inh MONDO:0600030 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:585956 B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) @@ -9110,13 +9079,12 @@ MONDO:0700220 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:306644 MONDO:0700264 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:477647 type 1 interferonopathy Type 1 interferonopathy MONDO:0800025 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1519 Teebi hypertelorism syndrome 1 SPECC1L-related hypertelorism syndrome MONDO:0800026 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:661 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease Congenital central hypoventilation syndrome -MONDO:0800027 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:313808 leukoencephalopathy, diffuse hereditary, with spheroids 1 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia +MONDO:0800027 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:313808 leukoencephalopathy, diffuse hereditary, with spheroids 1 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia MONDO:0800028 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:324588 dyskinesia with orofacial involvement, autosomal dominant Familial dyskinesia and facial myokymia MONDO:0800029 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2032 interstitial lung disease 2 Idiopathic pulmonary fibrosis MONDO:0800030 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:436252 gastrointestinal defects and immunodeficiency syndrome 1 Combined immunodeficiency-enteropathy spectrum MONDO:0800043 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3206 Stüve-Wiedemann syndrome 1 Stüve-Wiedemann syndrome MONDO:0800044 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:404454 congenital disorder of deglycosylation 1 Alacrimia-choreoathetosis-liver dysfunction syndrome -MONDO:0800045 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:476102 autoinflammatory syndrome, familial, Behcet-like 1 Hereditary pediatric Behçet-like disease MONDO:0800046 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:171706 thyroid hormone metabolism, abnormal 1 Short stature-delayed bone age due to thyroid hormone metabolism deficiency MONDO:0800084 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:93444 obsolete primary bone dysplasia with increased bone density Primary bone dysplasia with increased bone density MONDO:0800085 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:93453 obsolete dysostosis with predominant craniofacial involvement Dysostosis with predominant craniofacial involvement @@ -9140,7 +9108,6 @@ MONDO:0800448 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:135 le MONDO:0800449 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:275761 lysosomal acid lipase deficiency Lysosomal acid lipase deficiency MONDO:0800452 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:3319 congenital amegakaryocytic thrombocytopenia 1 Congenital amegakaryocytic thrombocytopenia MONDO:0800453 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:1941 juvenile absence epilepsy Juvenile absence epilepsy -MONDO:0850001 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:168486 congenital neuronal ceroid lipofuscinosis Congenital neuronal ceroid lipofuscinosis MONDO:0850007 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:519274 syndromic lacrimal system disorder Syndromic lacrimal system disorder MONDO:0850008 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations Anterior segment developmental abnormality with extraocular manifestations MONDO:0850009 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:519294 syndromic microspherophakia Syndromic microspherophakia @@ -9148,7 +9115,7 @@ MONDO:0850010 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orpha MONDO:0850013 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:617294 twin anemia-polycythemia sequence Twin anemia-polycythemia sequence MONDO:0850014 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:617297 twin-reversed arterial perfusion sequence Twin-reversed arterial perfusion sequence MONDO:0850015 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:617301 selective intrauterine growth restriction Selective intrauterine growth restriction -MONDO:0850030 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:498491 complete hemimelia Complete hemimelia +MONDO:0850030 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:498491 complete hemimelia Non-syndromic complete hemimelia MONDO:0850046 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:617304 amniotic fluid embolism Amniotic fluid embolism MONDO:0850048 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:617408 classic eosinophilic pustular folliculitis Classic eosinophilic pustular folliculitis MONDO:0850049 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:617440 painful legs and moving toes syndrome Painful legs and moving toes syndrome @@ -9158,10 +9125,10 @@ MONDO:0850054 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0850058 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:618891 chronic neurovisceral acid sphingomyelinase deficiency Chronic neurovisceral acid sphingomyelinase deficiency MONDO:0850059 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:619233 hereditary persistence of fetal hemoglobin-intellectual disability syndrome Hereditary persistence of fetal hemoglobin-intellectual disability syndrome MONDO:0850064 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:619340 inherited hematologic cancer-predisposing syndrome Inherited hematologic cancer-predisposing syndrome -MONDO:0850065 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:619363 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 +MONDO:0850065 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:619363 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 NOCARH syndrome MONDO:0850066 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:619367 SAMD9L-associated autoinflammatory syndrome SAMD9L-associated autoinflammatory syndrome -MONDO:0850067 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:619941 immune deficiency due to impaired neutrophil phagocytosis and migration Immune deficiency due to impaired neutrophil phagocytosis and migration -MONDO:0850068 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:619948 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome +MONDO:0850067 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:619941 immune deficiency due to impaired neutrophil phagocytosis and migration Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency +MONDO:0850068 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:619948 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency MONDO:0850069 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:619953 familial hyperinflammatory lymphoproliferative immunodeficiency Familial hyperinflammatory lymphoproliferative immunodeficiency MONDO:0850070 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:619972 CADINS disease CADINS disease MONDO:0850071 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:619979 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome @@ -9205,7 +9172,7 @@ MONDO:0859002 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:633035 MONDO:0859003 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:633099 PAICS deficiency PAICS deficiency MONDO:0859004 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:633124 invasive scopulariopsis infection Invasive scopulariopsis infection MONDO:0859005 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:633211 preaxial digit brachydactyly-webbed fingers Preaxial digit brachydactyly-webbed fingers -MONDO:0859006 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:633228 proximal femoral focal deficiency Proximal femoral focal deficiency +MONDO:0859006 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:633228 proximal femoral focal deficiency Isolated proximal femoral focal deficiency MONDO:0859007 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:634511 mosaic Legius syndrome Mosaic Legius syndrome MONDO:0859008 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:634518 neurofibromatosis/schwannomatosis Neurofibromatosis/schwannomatosis MONDO:0859139 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:637013 blepharophimosis-impaired intellectual development syndrome SMARCA2-related blepharophimosis-intellectual disability syndrome @@ -9300,7 +9267,7 @@ MONDO:0958127 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:658602 MONDO:0958128 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:658612 non-transplant-related bronchiolitis obliterans Non-transplant-related bronchiolitis obliterans MONDO:0958129 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:658778 COQ7-related distal hereditary motor neuropathy COQ7-related distal hereditary motor neuropathy MONDO:0958130 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:658805 Greig cephalopolysyndactyly-contiguous gene syndrome Greig cephalopolysyndactyly-contiguous gene syndrome -MONDO:0958137 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:658946 early-onset autoimmune disorder due to DOCK11 partial deficiency Early-onset autoimmune disorder due to DOCK11 partial deficiency +MONDO:0958137 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:658946 early-onset autoimmune disorder due to DOCK11 partial deficiency Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency MONDO:0958138 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:658951 early-onset immune dysregulation due to DOCK11 complete deficiency Early-onset immune dysregulation due to DOCK11 complete deficiency MONDO:0958256 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:641385 pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome PASS syndrome MONDO:0958257 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:641390 psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome PsAPASH syndrome diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl index e50b8f5e..2f1c08d5 100644 --- a/src/ontology/imports/omo_import.owl +++ b/src/ontology/imports/omo_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-06-22") +Annotation(owl:versionInfo "2024-07-03") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl index 73ebe658..4c610350 100644 --- a/src/ontology/imports/ro_import.owl +++ b/src/ontology/imports/ro_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-06-22") +Annotation(owl:versionInfo "2024-07-03") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/lexmatch/README.md b/src/ontology/lexmatch/README.md index c77c35e2..1ad5fa87 100644 --- a/src/ontology/lexmatch/README.md +++ b/src/ontology/lexmatch/README.md @@ -3,12 +3,12 @@ * mondo-only: Positive mappings in MONDO not caught by the lexical mapping pipeline * split-mapping-set: Unmapped mappings broken down by predicate_id ## Summary of mappings: - * Number of mappings in [`unmapped_doid_lex`](unmapped_doid_lex.tsv): 37 + * Number of mappings in [`unmapped_doid_lex`](unmapped_doid_lex.tsv): 30 * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 22 * Number of mappings in [`unmapped_doid_mondo`](mondo-only/unmapped_doid_mondo.tsv): 34 * Number of mappings in [`unmapped_doid_mondo_exact`](mondo-only/unmapped_doid_mondo.tsv): 34 - * Number of mappings in [`unmapped_icd10cm_lex`](unmapped_icd10cm_lex.tsv): 1955 - * Number of mappings in [`unmapped_icd10cm_lex_exact`](unmapped_icd10cm_lex.tsv): 1553 + * Number of mappings in [`unmapped_icd10cm_lex`](unmapped_icd10cm_lex.tsv): 1954 + * Number of mappings in [`unmapped_icd10cm_lex_exact`](unmapped_icd10cm_lex.tsv): 1552 * Number of mappings in [`unmapped_icd10cm_mondo`](mondo-only/unmapped_icd10cm_mondo.tsv): 3 * Number of mappings in [`unmapped_icd10cm_mondo_exact`](mondo-only/unmapped_icd10cm_mondo.tsv): 3 * Number of mappings in [`unmapped_icd10who_lex`](unmapped_icd10who_lex.tsv): 1224 @@ -27,29 +27,30 @@ * Number of mappings in [`unmapped_omim_lex_exact`](unmapped_omim_lex.tsv): 1 * Number of mappings in [`unmapped_omim_mondo`](mondo-only/unmapped_omim_mondo.tsv): 118 * Number of mappings in [`unmapped_omim_mondo_exact`](mondo-only/unmapped_omim_mondo.tsv): 118 - * Number of mappings in [`unmapped_ordo_lex`](unmapped_ordo_lex.tsv): 1 - * Number of mappings in [`unmapped_ordo_lex_exact`](unmapped_ordo_lex.tsv): 1 + * Number of mappings in [`unmapped_ordo_lex`](unmapped_ordo_lex.tsv): 33 + * Number of mappings in [`unmapped_ordo_lex_exact`](unmapped_ordo_lex.tsv): 18 * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 880 * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 880 ## mondo_XXXXmatch_ontology - * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 75 - * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 145 - * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 10 - * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 206 - * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 69 * Number of mappings in [`mondo_narrowmatch_doid`](split-mapping-set/mondo_narrowmatch_doid.tsv): 1 - * Number of mappings in [`mondo_broadmatch_doid`](split-mapping-set/mondo_broadmatch_doid.tsv): 2 - * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 147 - * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1224 - * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 25 - * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 30 - * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 879 + * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 62 + * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 154 + * Number of mappings in [`mondo_broadmatch_orphanet`](split-mapping-set/mondo_broadmatch_orphanet.tsv): 1 + * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 911 + * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 177 + * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 10 + * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 145 + * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 75 + * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 69 + * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 58 + * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 1955 + * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 5997 * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 113 * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 4 - * Number of mappings in [`mondo_closematch_icd11.foundation`](split-mapping-set/mondo_closematch_icd11.foundation.tsv): 3021 - * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 8826 * Number of mappings in [`mondo_broadmatch_icd11.foundation`](split-mapping-set/mondo_broadmatch_icd11.foundation.tsv): 179 - * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 5997 - * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 1956 - * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 58 - * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 69 + * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 8826 + * Number of mappings in [`mondo_closematch_icd11.foundation`](split-mapping-set/mondo_closematch_icd11.foundation.tsv): 3021 + * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 30 + * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 25 + * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1224 + * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 147 diff --git a/src/ontology/lexmatch/all_exact.robot.tsv b/src/ontology/lexmatch/all_exact.robot.tsv index 27f60d4c..4c397040 100644 --- a/src/ontology/lexmatch/all_exact.robot.tsv +++ b/src/ontology/lexmatch/all_exact.robot.tsv @@ -3831,6 +3831,21 @@ MONDO:0958083 MONDO:equivalentTo icd11.foundation:1550169484 conjoined twins Con MONDO:0968955 MONDO:equivalentTo icd11.foundation:1793262466 hypocalcified amelogenesis imperfecta Hypocalcified amelogenesis imperfecta semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hypocalcified amelogenesis imperfecta MONDO:1010000 MONDO:equivalentTo icd11.foundation:1571230529 pythiosis Pythiosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pythiosis MONDO:8000010 MONDO:equivalentTo icd11.foundation:1173370808 antiphospholipid syndrome Antiphospholipid syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label antiphospholipid syndrome +MONDO:0002520 MONDO:equivalentTo Orphanet:659694 hepatic porphyria Hepatic porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatic porphyria +MONDO:0003258 MONDO:equivalentTo Orphanet:675362 hobnail hemangioma Hobnail hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hobnail hemangioma +MONDO:0005774 MONDO:equivalentTo Orphanet:659908 glanders Glanders semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glanders +MONDO:0007753 MONDO:equivalentTo Orphanet:662240 Frey syndrome Frey syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frey syndrome +MONDO:0008858 MONDO:equivalentTo Orphanet:1239 Behr syndrome Behr syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label behr syndrome +MONDO:0018984 MONDO:equivalentTo Orphanet:659756 Oroya fever Oroya fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oroya fever +MONDO:0021169 MONDO:equivalentTo Orphanet:675396 epithelioid hemangioma Epithelioid hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelioid hemangioma +MONDO:0030048 MONDO:equivalentTo Orphanet:659672 harderoporphyria Harderoporphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label harderoporphyria +MONDO:0032916 MONDO:equivalentTo Orphanet:659463 Imagawa-Matsumoto syndrome Imagawa-Matsumoto syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label imagawa-matsumoto syndrome +MONDO:0043349 MONDO:equivalentTo Orphanet:673525 intravascular papillary endothelial hyperplasia Intravascular papillary endothelial hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intravascular papillary endothelial hyperplasia +MONDO:0043361 MONDO:equivalentTo Orphanet:675404 May-Thurner syndrome May-Thurner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label may-thurner syndrome +MONDO:0060510 MONDO:equivalentTo Orphanet:659396 Cohen-Gibson syndrome Cohen-Gibson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cohen-gibson syndrome +MONDO:0800478 MONDO:equivalentTo Orphanet:664901 trigeminal trophic syndrome Trigeminal trophic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigeminal trophic syndrome +MONDO:0850112 MONDO:equivalentTo Orphanet:667662 breast implant-associated anaplastic large cell lymphoma Breast implant-associated anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label breast implant-associated anaplastic large cell lymphoma +MONDO:0859219 MONDO:equivalentTo Orphanet:659642 Rauch-Steindl syndrome Rauch-Steindl syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rauch-steindl syndrome MONDO:0003222 MONDO:equivalentTo NCIT:C4661 central nervous system melanocytic neoplasm Central Nervous System Melanocytic Neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central nervous system melanocytic neoplasm MONDO:0004520 MONDO:equivalentTo NCIT:C192096 intratubular embryonal carcinoma Intratubular Embryonal Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intratubular embryonal carcinoma MONDO:0015301 MONDO:equivalentTo NCIT:C199391 primary cutaneous amyloidosis Primary Cutaneous Amyloidosis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label primary cutaneous amyloidosis @@ -3902,18 +3917,11 @@ MONDO:0958303 MONDO:equivalentTo NCIT:C189242 childhood renal cell carcinoma wit MONDO:0005641 MONDO:equivalentTo DOID:2934 aleutian mink disease aleutian mink disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aleutian mink disease MONDO:0005676 MONDO:equivalentTo DOID:5154 borna disease borna disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borna disease MONDO:0007744 MONDO:equivalentTo DOID:0111368 cholesterol-ester transfer protein deficiency cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency -MONDO:0014563 MONDO:equivalentTo DOID:0070540 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:616277 -MONDO:0014654 MONDO:equivalentTo DOID:0060948 Ullrich congenital muscular dystrophy 2 Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:616470 -MONDO:0014936 MONDO:equivalentTo DOID:0060953 ZTTK syndrome ZTTK syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617140 -MONDO:0026763 MONDO:equivalentTo DOID:0060954 holoprosencephaly 13, X-linked Holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:301043 -MONDO:0030105 MONDO:equivalentTo DOID:0060969 galactosemia 4 galactosemia 4 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618881 -MONDO:0030500 MONDO:equivalentTo DOID:0060964 Loeys-Dietz syndrome 6 Loeys-Dietz syndrome 6 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619656 -MONDO:0030866 MONDO:equivalentTo DOID:0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619121 -MONDO:0031062 MONDO:equivalentTo DOID:0060952 polycystic kidney disease 7 polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620056 -MONDO:0100058 MONDO:equivalentTo DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia hypervalinemia and hyperleucine-isoleucinemia semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:618850 -MONDO:0859341 MONDO:equivalentTo DOID:0060968 hypotrichosis 15 hypotrichosis 15 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620177 -MONDO:0957921 MONDO:equivalentTo DOID:0060970 Cornelia de Lange syndrome 6 Cornelia de Lange syndrome 6 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620568 -MONDO:0970945 MONDO:equivalentTo DOID:0070545 developmental and epileptic encephalopathy 116 developmental and epileptic encephalopathy 116 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620806 +MONDO:0014860 MONDO:equivalentTo DOID:0060975 polycystic liver disease 2 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617004 +MONDO:0030374 MONDO:equivalentTo DOID:0060973 WHIM syndrome 2 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619407 +MONDO:0044327 MONDO:equivalentTo DOID:0060977 polycystic liver disease 4 with or without kidney cysts polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617875 +MONDO:0054743 MONDO:equivalentTo DOID:0060976 polycystic liver disease 3 with or without kidney cysts polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617874 +MONDO:0800029 MONDO:equivalentTo DOID:0060971 interstitial lung disease 2 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:178500 MONDO:0000088 MONDO:equivalentTo ICD10WHO:E30.1 precocious puberty Precocious puberty semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label precocious puberty MONDO:0000245 MONDO:equivalentTo ICD10WHO:B35.5 tinea imbricata Tinea imbricata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea imbricata MONDO:0000367 MONDO:equivalentTo ICD10WHO:B68 taeniasis Taeniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label taeniasis diff --git a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv index ecd510fe..d01a87c1 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_ordo_mondo.tsv @@ -16,7 +16,7 @@ MONDO:0015115 obsolete rare genetic metabolic liver disease Orphanet:101940 MOND MONDO:0015116 obsolete rare biliary tract disease Orphanet:101941 MONDO:equivalentTo Rare biliary tract disease semapv:UnspecifiedMatching 0.5 MONDO:0015117 obsolete rare hepatic and biliary tract tumor Orphanet:101943 MONDO:equivalentTo Rare hepatic and biliary tract tumor semapv:UnspecifiedMatching 0.5 MONDO:0015118 obsolete rare pulmonary disease Orphanet:101944 MONDO:equivalentTo Rare pulmonary disease semapv:UnspecifiedMatching 0.5 -MONDO:0015119 obsolete bronchopulmonary tumor Orphanet:101945 MONDO:equivalentTo Rare bronchopulmonary tumor semapv:UnspecifiedMatching 0.5 +MONDO:0015119 obsolete bronchopulmonary tumor Orphanet:101945 MONDO:equivalentTo Rare bronchopulmonary and pleural cavity tumors semapv:UnspecifiedMatching 0.5 MONDO:0015121 obsolete rare eye tumor Orphanet:101950 MONDO:equivalentTo Rare eye tumor semapv:UnspecifiedMatching 0.5 MONDO:0015122 obsolete rare diabetes mellitus Orphanet:101952 MONDO:equivalentTo Rare diabetes mellitus semapv:UnspecifiedMatching 0.5 MONDO:0015123 obsolete rare inherited dyslipidemia Orphanet:101953 MONDO:equivalentTo Rare dyslipidemia semapv:UnspecifiedMatching 0.5 @@ -332,9 +332,11 @@ MONDO:0017369 obsolete autoinflammatory syndrome with immune deficiency Orphanet MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement Orphanet:290842 MONDO:equivalentTo Autoinflammatory syndrome with skin involvement semapv:UnspecifiedMatching 0.5 MONDO:0017371 obsolete rare head and neck tumor Orphanet:290849 MONDO:equivalentTo Rare head and neck tumor semapv:UnspecifiedMatching 0.5 MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria Orphanet:293355 MONDO:equivalentTo Methylmalonic acidemia without homocystinuria semapv:UnspecifiedMatching 0.5 +MONDO:0017397 obsolete constitutional dyserythropoietic anemia Orphanet:293830 MONDO:equivalentTo Constitutional dyserythropoietic anemia semapv:UnspecifiedMatching 0.5 MONDO:0017414 obsolete rare nevus Orphanet:294057 MONDO:equivalentTo Rare nevus semapv:UnspecifiedMatching 0.5 -MONDO:0017420 obsolete intercalary limb defects Orphanet:294927 MONDO:equivalentTo Intercalary limb defects semapv:UnspecifiedMatching 0.5 -MONDO:0017431 obsolete non-syndromic limb overgrowth Orphanet:294953 MONDO:equivalentTo Non syndromic limb overgrowth semapv:UnspecifiedMatching 0.5 +MONDO:0017420 obsolete intercalary limb defects Orphanet:294927 MONDO:equivalentTo Non-syndromic intercalary limb defects semapv:UnspecifiedMatching 0.5 +MONDO:0017429 obsolete joint formation defects Orphanet:294949 MONDO:equivalentTo Non-syndromic joint formation defects semapv:UnspecifiedMatching 0.5 +MONDO:0017431 obsolete non-syndromic limb overgrowth Orphanet:294953 MONDO:equivalentTo Non-syndromic limb overgrowth semapv:UnspecifiedMatching 0.5 MONDO:0017432 obsolete syndrome with limb reduction defects Orphanet:294955 MONDO:equivalentTo Syndrome with limb reduction defects semapv:UnspecifiedMatching 0.5 MONDO:0017633 obsolete rare intoxication due to medical products Orphanet:306640 MONDO:equivalentTo Rare intoxication due to medical products semapv:UnspecifiedMatching 0.5 MONDO:0017635 obsolete parkinsonian syndrome due to neurodegenerative disease Orphanet:306666 MONDO:equivalentTo Rare parkinsonian syndrome due to neurodegenerative disease semapv:UnspecifiedMatching 0.5 @@ -402,6 +404,7 @@ MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological intere MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest Orphanet:325638 MONDO:equivalentTo Syndrome with difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO:0018033 obsolete other immunodeficiency syndromes due to defects in innate immunity Orphanet:331193 MONDO:equivalentTo Other immunodeficiency syndromes due to defects in innate immunity semapv:UnspecifiedMatching 0.5 MONDO:0018035 obsolete syndrome with combined immunodeficiency Orphanet:331217 MONDO:equivalentTo Syndrome with combined immunodeficiency semapv:UnspecifiedMatching 0.5 +MONDO:0018036 obsolete immunodeficiency due to absence of thymus Orphanet:331220 MONDO:equivalentTo Syndome with combined immunodeficiency due to thymic defect semapv:UnspecifiedMatching 0.5 MONDO:0018038 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells Orphanet:331232 MONDO:equivalentTo Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells semapv:UnspecifiedMatching 0.5 MONDO:0018041 obsolete other immunodeficiency syndrome with predominantly antibody defects Orphanet:331244 MONDO:equivalentTo Other immunodeficiency syndrome with predominantly antibody defects semapv:UnspecifiedMatching 0.5 MONDO:0018118 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement Orphanet:352306 MONDO:equivalentTo Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement semapv:UnspecifiedMatching 0.5 @@ -417,7 +420,6 @@ MONDO:0018231 obsolete primary bone dysplasia with progressive ossification of s MONDO:0018232 obsolete primary bone dysplasia with micromelia Orphanet:364536 MONDO:equivalentTo Primary bone dysplasia with micromelia semapv:UnspecifiedMatching 0.5 MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature Orphanet:364568 MONDO:equivalentTo Dysostosis with limb anomaly as a major feature semapv:UnspecifiedMatching 0.5 MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature Orphanet:364571 MONDO:equivalentTo Dysostosis with limb and face anomalies as a major feature semapv:UnspecifiedMatching 0.5 -MONDO:0018239 obsolete aggrecan-related bone disorder Orphanet:364817 MONDO:equivalentTo Aggrecan-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO:0018246 obsolete homozygous 2p21 microdeletion syndrome Orphanet:369886 MONDO:equivalentTo Homozygous 2p21 microdeletion syndrome semapv:UnspecifiedMatching 0.5 MONDO:0018262 obsolete fetal anticonvulsant syndrome Orphanet:370068 MONDO:equivalentTo Fetal anticonvulsant syndrome semapv:UnspecifiedMatching 0.5 MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation Orphanet:370106 MONDO:equivalentTo Rare disorder with dystonia and other neurologic or systemic manifestation semapv:UnspecifiedMatching 0.5 @@ -435,7 +437,6 @@ MONDO:0018296 obsolete congenital disorder of glycosylation with developmental a MONDO:0018299 obsolete sphingolipidosis with epilepsy Orphanet:371442 MONDO:equivalentTo Sphingolipidosis with epilepsy semapv:UnspecifiedMatching 0.5 MONDO:0018318 obsolete disorder of asparagine metabolism Orphanet:391381 MONDO:equivalentTo Disorder of asparagine metabolism semapv:UnspecifiedMatching 0.5 MONDO:0018329 obsolete persistent combined dystonia Orphanet:391711 MONDO:equivalentTo Persistent combined dystonia semapv:UnspecifiedMatching 0.5 -MONDO:0018368 primary peritoneal serous/papillary carcinoma Orphanet:398980 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 MONDO:0018377 obsolete rare hereditary disease with avascular necrosis Orphanet:399185 MONDO:equivalentTo Rare hereditary disease with avascular necrosis semapv:UnspecifiedMatching 0.5 MONDO:0018384 obsolete avascular necrosis of genetic origin Orphanet:399388 MONDO:equivalentTo Avascular necrosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO:0018385 obsolete osteochondrosis of genetic origin Orphanet:399391 MONDO:equivalentTo Osteochondrosis of genetic origin semapv:UnspecifiedMatching 0.5 @@ -486,7 +487,6 @@ MONDO:0018579 obsolete disorder of ketone body transport Orphanet:438072 MONDO:e MONDO:0018609 obsolete syndromic hereditary optic neuropathy Orphanet:441434 MONDO:equivalentTo Syndromic hereditary optic neuropathy semapv:UnspecifiedMatching 0.5 MONDO:0018652 obsolete biological anomaly without phenotypic characterization Orphanet:447874 MONDO:equivalentTo Biological anomaly without phenotypic characterization semapv:UnspecifiedMatching 0.5 MONDO:0018701 obsolete congenital nemaline myopathy Orphanet:457074 MONDO:equivalentTo Congenital nemaline myopathy semapv:UnspecifiedMatching 0.5 -MONDO:0018718 obsolete vascular tumor with associated anomalies Orphanet:458827 MONDO:equivalentTo Vascular tumor with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies Orphanet:458830 MONDO:equivalentTo Rare capillary malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO:0018720 obsolete common cystic lymphatic malformation Orphanet:458833 MONDO:equivalentTo Common cystic lymphatic malformation semapv:UnspecifiedMatching 0.5 MONDO:0018721 obsolete rare combined vascular malformation Orphanet:458837 MONDO:equivalentTo Rare combined vascular malformation semapv:UnspecifiedMatching 0.5 @@ -503,8 +503,8 @@ MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy Orphanet:4 MONDO:0018779 obsolete hypercontractile muscle stiffness syndrome Orphanet:476403 MONDO:equivalentTo Hypercontractile muscle stiffness syndrome semapv:UnspecifiedMatching 0.5 MONDO:0018787 obsolete genetic cerebral small vessel disease Orphanet:477754 MONDO:equivalentTo Genetic cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO:0018788 obsolete COL4A1 or COL4A2-related cerebral small vessel disease Orphanet:477759 MONDO:equivalentTo COL4A1 or COL4A2-related cerebral small vessel disease semapv:UnspecifiedMatching 0.5 -MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency Orphanet:477762 MONDO:equivalentTo COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy semapv:UnspecifiedMatching 0.5 -MONDO:0018790 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency Orphanet:477765 MONDO:equivalentTo COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy semapv:UnspecifiedMatching 0.5 +MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency Orphanet:477762 MONDO:equivalentTo COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency semapv:UnspecifiedMatching 0.5 +MONDO:0018790 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency Orphanet:477765 MONDO:equivalentTo COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency semapv:UnspecifiedMatching 0.5 MONDO:0018791 obsolete Moyomoya angiopathy Orphanet:477768 MONDO:equivalentTo Moyamoya angiopathy semapv:UnspecifiedMatching 0.5 MONDO:0018792 obsolete Moyamoya syndrome Orphanet:477771 MONDO:equivalentTo Rare disorder with a moyamoya angiopathy semapv:UnspecifiedMatching 0.5 MONDO:0018796 obsolete isolated constitutional thrombocytopenia Orphanet:477797 MONDO:equivalentTo Isolated constitutional thrombocytopenia semapv:UnspecifiedMatching 0.5 @@ -528,7 +528,7 @@ MONDO:0019058 obsolete neurometabolic disease Orphanet:68385 MONDO:equivalentTo MONDO:0019059 obsolete rare parkinsonian disorder Orphanet:68402 MONDO:equivalentTo Rare parkinsonian disorder semapv:UnspecifiedMatching 0.5 MONDO:0019061 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly Orphanet:68415 MONDO:equivalentTo Rare parathyroid disease and phosphocalcic metabolism anomaly semapv:UnspecifiedMatching 0.5 MONDO:0019062 obsolete rare infectious disease Orphanet:68416 MONDO:equivalentTo Rare infectious disease semapv:UnspecifiedMatching 0.5 -MONDO:0019063 obsolete vascular anomaly Orphanet:68419 MONDO:equivalentTo Vascular anomaly or angioma semapv:UnspecifiedMatching 0.5 +MONDO:0019063 obsolete vascular anomaly Orphanet:68419 MONDO:equivalentTo Rare vascular anomaly semapv:UnspecifiedMatching 0.5 MONDO:0019066 obsolete syndrome with brachydactyly Orphanet:69028 MONDO:equivalentTo Dysostosis with brachydactyly semapv:UnspecifiedMatching 0.5 MONDO:0019096 obsolete rare pulmonary hypertension Orphanet:71198 MONDO:equivalentTo Rare pulmonary hypertension semapv:UnspecifiedMatching 0.5 MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly Orphanet:71202 MONDO:equivalentTo Rare hemorrhagic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching 0.5 @@ -565,7 +565,6 @@ MONDO:0019608 obsolete 46,XX disorder of sex development induced by maternal-der MONDO:0019619 obsolete duplication of the esophagus Orphanet:91357 MONDO:equivalentTo Duplication of the esophagus semapv:UnspecifiedMatching 0.5 MONDO:0019684 obsolete rare bone disease Orphanet:93419 MONDO:equivalentTo Rare bone disease semapv:UnspecifiedMatching 0.5 MONDO:0019688 obsolete sulfation-related bone disorder Orphanet:93423 MONDO:equivalentTo Sulfation-related bone disorder semapv:UnspecifiedMatching 0.5 -MONDO:0019689 obsolete perlecan-related bone disorder Orphanet:93424 MONDO:equivalentTo Perlecan-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO:0019692 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia Orphanet:93429 MONDO:equivalentTo Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:UnspecifiedMatching 0.5 MONDO:0019704 obsolete primary bone dysplasia with decreased bone density Orphanet:93446 MONDO:equivalentTo Primary bone dysplasia with decreased bone density semapv:UnspecifiedMatching 0.5 MONDO:0019705 obsolete primary bone dysplasia with defective bone mineralization Orphanet:93447 MONDO:equivalentTo Primary bone dysplasia with defective bone mineralization semapv:UnspecifiedMatching 0.5 @@ -579,7 +578,6 @@ MONDO:0019747 obsolete hematological disorder with renal involvement Orphanet:93 MONDO:0019748 obsolete rare cause of hypertension Orphanet:93618 MONDO:equivalentTo Rare cause of hypertension semapv:UnspecifiedMatching 0.5 MONDO:0019749 obsolete rare renal tumor Orphanet:93619 MONDO:equivalentTo Rare renal tumor semapv:UnspecifiedMatching 0.5 MONDO:0019750 obsolete rare renal disease Orphanet:93626 MONDO:equivalentTo Rare renal disease semapv:UnspecifiedMatching 0.5 -MONDO:0019800 obsolete chronic hepatic porphyria Orphanet:95161 MONDO:equivalentTo Chronic hepatic porphyria semapv:UnspecifiedMatching 0.5 MONDO:0019822 obsolete arterial duct anomaly Orphanet:95485 MONDO:equivalentTo Arterial duct anomaly semapv:UnspecifiedMatching 0.5 MONDO:0019827 obsolete disease associated with non-acquired combined pituitary hormone deficiency Orphanet:95495 MONDO:equivalentTo Disease associated with non-acquired combined pituitary hormone deficiency semapv:UnspecifiedMatching 0.5 MONDO:0019833 obsolete pituitary hormone deficiency from tumoral origin Orphanet:95503 MONDO:equivalentTo Pituitary hormone deficiency of tumoral origin semapv:UnspecifiedMatching 0.5 @@ -632,6 +630,7 @@ MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development Orphanet: MONDO:0020051 obsolete total autosomal trisomy Orphanet:98131 MONDO:equivalentTo Total autosomal trisomy semapv:UnspecifiedMatching 0.5 MONDO:0020052 obsolete partial autosomal trisomy/tetrasomy Orphanet:98132 MONDO:equivalentTo Partial autosomal duplication/triplication semapv:UnspecifiedMatching 0.5 MONDO:0020053 obsolete total autosomal monosomy Orphanet:98141 MONDO:equivalentTo Total autosomal monosomy semapv:UnspecifiedMatching 0.5 +MONDO:0020054 obsolete partial autosomal monosomy Orphanet:98142 MONDO:equivalentTo Partial autosomal deletion semapv:UnspecifiedMatching 0.5 MONDO:0020055 obsolete autosomal uniparental disomy Orphanet:98152 MONDO:equivalentTo Autosomal uniparental disomy semapv:UnspecifiedMatching 0.5 MONDO:0020059 obsolete gonosome number anomaly Orphanet:98156 MONDO:equivalentTo Sex-chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO:0020060 obsolete gonosome structural anomaly Orphanet:98157 MONDO:equivalentTo Sex-chromosome structural anomaly semapv:UnspecifiedMatching 0.5 @@ -713,6 +712,7 @@ MONDO:0020287 obsolete pulmonary artery or pulmonary branch anomaly Orphanet:987 MONDO:0020288 obsolete atrioventricular valve anomaly Orphanet:98720 MONDO:equivalentTo Atrioventricular valve anomaly semapv:UnspecifiedMatching 0.5 MONDO:0020293 obsolete ascending aorta anomaly Orphanet:98725 MONDO:equivalentTo Ascending aorta anomaly semapv:UnspecifiedMatching 0.5 MONDO:0020294 obsolete atrial defect and interatrial communication Orphanet:98727 MONDO:equivalentTo Rare atrial defect and interatrial communication semapv:UnspecifiedMatching 0.5 +MONDO:0020313 obsolete unclassified myelodysplastic/myeloproliferative disease Orphanet:98825 MONDO:equivalentTo Unclassified myelodysplastic/myeloproliferative disease semapv:UnspecifiedMatching 0.5 MONDO:0020339 obsolete X-linked complex spastic paraplegia Orphanet:98888 MONDO:equivalentTo X-linked complex spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO:0020343 obsolete alpha-crystallinopathy Orphanet:98910 MONDO:equivalentTo Alpha-crystallinopathy semapv:UnspecifiedMatching 0.5 MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency Orphanet:101960 MONDO:equivalentTo Genetic chronic primary adrenal insufficiency semapv:UnspecifiedMatching 0.5 @@ -807,11 +807,11 @@ MONDO:0033335 obsolete genetic larynx anomaly Orphanet:435609 MONDO:equivalentTo MONDO:0033336 obsolete genetic tracheal anomaly Orphanet:435612 MONDO:equivalentTo Genetic tracheal anomaly semapv:UnspecifiedMatching 0.5 MONDO:0033927 obsolete genetic complex vascular malformation with associated anomalies Orphanet:459537 MONDO:equivalentTo Genetic complex vascular malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO:0034039 obsolete genetic hemoglobinopathy Orphanet:466066 MONDO:equivalentTo Genetic hemoglobinopathy semapv:UnspecifiedMatching 0.5 -MONDO:0034443 obsolete genetic non-acquired premature ovarian failure Orphanet:485382 MONDO:equivalentTo Genetic premature ovarian failure semapv:UnspecifiedMatching 0.5 +MONDO:0034443 obsolete genetic non-acquired premature ovarian failure Orphanet:485382 MONDO:equivalentTo Rare genetic premature ovarian failure semapv:UnspecifiedMatching 0.5 MONDO:0034641 obsolete rare genetic hyperkinetic movement disorder Orphanet:496916 MONDO:equivalentTo Rare genetic hyperkinetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO:0034661 obsolete syndromic biliary atresia Orphanet:498350 MONDO:equivalentTo Syndromic biliary atresia semapv:UnspecifiedMatching 0.5 -MONDO:0034667 obsolete longitudinal limb defect Orphanet:498457 MONDO:equivalentTo Longitudinal limb defect semapv:UnspecifiedMatching 0.5 -MONDO:0034668 obsolete terminal transverse limb defect Orphanet:498461 MONDO:equivalentTo Terminal transverse limb defect semapv:UnspecifiedMatching 0.5 +MONDO:0034667 obsolete longitudinal limb defect Orphanet:498457 MONDO:equivalentTo Non-syndromic longitudinal limb defect semapv:UnspecifiedMatching 0.5 +MONDO:0034668 obsolete terminal transverse limb defect Orphanet:498461 MONDO:equivalentTo Non-syndromic terminal transverse limb defect semapv:UnspecifiedMatching 0.5 MONDO:0034669 obsolete non-syndromic preaxial polydactyly Orphanet:498464 MONDO:equivalentTo Non-syndromic preaxial polydactyly semapv:UnspecifiedMatching 0.5 MONDO:0034670 obsolete non-syndromic postaxial polydactyly Orphanet:498467 MONDO:equivalentTo Non-syndromic postaxial polydactyly semapv:UnspecifiedMatching 0.5 MONDO:0034671 obsolete non-syndromic complex polydactyly Orphanet:498470 MONDO:equivalentTo Non-syndromic complex polydactyly semapv:UnspecifiedMatching 0.5 diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv deleted file mode 100644 index 033e9ca4..00000000 --- a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_doid.tsv +++ /dev/null @@ -1,3 +0,0 @@ -subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment -MONDO:0015612 Dent disease skos:broadMatch DOID:0081453 Dent disease 1 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label dent disease 1 LEXMATCH -MONDO:0015612 Dent disease skos:broadMatch DOID:0081454 Dent disease 2 semapv:LexicalMatching oaklib 0.8 oio:hasNarrowSynonym rdfs:label dent disease 2 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_orphanet.tsv new file mode 100644 index 00000000..a5ad0434 --- /dev/null +++ b/src/ontology/lexmatch/split-mapping-set/mondo_broadmatch_orphanet.tsv @@ -0,0 +1,2 @@ +subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment +MONDO:0006173 conjunctival squamous cell carcinoma skos:broadMatch Orphanet:659744 Ocular surface squamous neoplasia semapv:LexicalMatching oaklib 0.8 oio:hasBroadSynonym rdfs:label ocular surface squamous neoplasia LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv index 795a89a2..57bb39cc 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv @@ -1,5 +1,4 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment -MONDO:0000355 Ullrich congenital muscular dystrophy skos:closeMatch DOID:0060948 Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:4769 LEXMATCH MONDO:0001516 spinal muscular atrophy skos:closeMatch DOID:0060160 childhood spinal muscular atrophy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:7674 LEXMATCH MONDO:0004037 retinal edema skos:closeMatch DOID:146 papilledema semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d010211 LEXMATCH MONDO:0005641 aleutian mink disease skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000453 LEXMATCH @@ -22,97 +21,81 @@ MONDO:0006879 optic papillitis skos:closeMatch DOID:146 papilledema semapv:Lexic MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:101800 LEXMATCH MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:101800 LEXMATCH MONDO:0007044 Acrodysostosis 1 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:101800 LEXMATCH +MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:closeMatch DOID:0070552 epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:144200 LEXMATCH +MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:closeMatch DOID:0070552 epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:144200 LEXMATCH +MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:closeMatch DOID:0070552 epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:144200 LEXMATCH +MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:closeMatch DOID:0070552 epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:144200 LEXMATCH +MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:closeMatch DOID:0070552 epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:144200 LEXMATCH +MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:3098 LEXMATCH +MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c536157 LEXMATCH +MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:148730 LEXMATCH +MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:3098 LEXMATCH +MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c536157 LEXMATCH +MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:148730 LEXMATCH +MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym focal palmoplantar and gingival hyperkeratosis syndrome LEXMATCH +MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c536157 LEXMATCH +MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:148730 LEXMATCH +MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:148730 LEXMATCH +MONDO:0007860 focal palmoplantar and gingival keratoderma skos:closeMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:148730 LEXMATCH MONDO:0008227 peripheral dysostosis skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:2015 LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:8387 LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c538324 LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:246450 LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:8387 LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c538324 LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:246450 LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmg-coa lyase deficiency LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym hmgcl deficiency LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasRelatedSynonym hl deficiency LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c538324 LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:246450 LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:246450 LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:246450 LEXMATCH -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13202 LEXMATCH -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:250620 LEXMATCH -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:250620 LEXMATCH -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym valine metabolic defect LEXMATCH -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:250620 LEXMATCH -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:250620 LEXMATCH -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:closeMatch DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:250620 LEXMATCH -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch DOID:0060959 orofaciodigital syndrome II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:3701 LEXMATCH -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch DOID:0060959 orofaciodigital syndrome II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:252100 LEXMATCH -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch DOID:0060959 orofaciodigital syndrome II semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:252100 LEXMATCH -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch DOID:0060959 orofaciodigital syndrome II semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome ii LEXMATCH -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch DOID:0060959 orofaciodigital syndrome II semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:252100 LEXMATCH -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch DOID:0060959 orofaciodigital syndrome II semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:252100 LEXMATCH -MONDO:0009642 orofaciodigital syndrome type II skos:closeMatch DOID:0060959 orofaciodigital syndrome II semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:252100 LEXMATCH MONDO:0009727 atelosteogenesis type II skos:closeMatch DOID:14687 diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q77.5 LEXMATCH MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch DOID:14679 VACTERL association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276950 LEXMATCH MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch DOID:14679 VACTERL association semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276950 LEXMATCH MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch DOID:14679 VACTERL association semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:276950 LEXMATCH -MONDO:0010225 Dent disease type 1 skos:closeMatch DOID:0081453 Dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300009 LEXMATCH -MONDO:0010225 Dent disease type 1 skos:closeMatch DOID:0081453 Dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:300009 LEXMATCH -MONDO:0010225 Dent disease type 1 skos:closeMatch DOID:0081453 Dent disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disease 1 LEXMATCH -MONDO:0010225 Dent disease type 1 skos:closeMatch DOID:0081453 Dent disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300009 LEXMATCH -MONDO:0010225 Dent disease type 1 skos:closeMatch DOID:0081453 Dent disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:300009 LEXMATCH -MONDO:0010225 Dent disease type 1 skos:closeMatch DOID:0081453 Dent disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:300009 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch DOID:0081454 Dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c564487 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch DOID:0081454 Dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300555 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch DOID:0081454 Dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:300555 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch DOID:0081454 Dent disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label dent disease 2 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch DOID:0081454 Dent disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c564487 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch DOID:0081454 Dent disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300555 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch DOID:0081454 Dent disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:300555 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:closeMatch DOID:0081454 Dent disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:300555 LEXMATCH -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch DOID:0070544 congenital glutamine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:9848 LEXMATCH -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch DOID:0070544 congenital glutamine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610015 LEXMATCH -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch DOID:0070544 congenital glutamine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:9848 LEXMATCH -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch DOID:0070544 congenital glutamine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:610015 LEXMATCH -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch DOID:0070544 congenital glutamine deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label congenital glutamine deficiency LEXMATCH -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch DOID:0070544 congenital glutamine deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610015 LEXMATCH -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch DOID:0070544 congenital glutamine deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:610015 LEXMATCH -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:closeMatch DOID:0070544 congenital glutamine deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:610015 LEXMATCH -MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency skos:closeMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasRelatedSynonym hl deficiency LEXMATCH +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:5186 LEXMATCH +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:600962 LEXMATCH +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:5186 LEXMATCH +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:600962 LEXMATCH +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:600962 LEXMATCH +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:600962 LEXMATCH +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:closeMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:600962 LEXMATCH +MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566472 LEXMATCH +MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610475 LEXMATCH +MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c566472 LEXMATCH +MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:610475 LEXMATCH +MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c566472 LEXMATCH +MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610475 LEXMATCH +MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:610475 LEXMATCH +MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:closeMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:610475 LEXMATCH +MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:c566469 LEXMATCH +MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610489 LEXMATCH +MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:c566469 LEXMATCH +MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:610489 LEXMATCH +MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:c566469 LEXMATCH +MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610489 LEXMATCH +MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:610489 LEXMATCH +MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:closeMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:610489 LEXMATCH +MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch DOID:0070548 primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614190 LEXMATCH +MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch DOID:0070548 primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:614190 LEXMATCH +MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch DOID:0070548 primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614190 LEXMATCH +MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch DOID:0070548 primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614190 LEXMATCH +MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:closeMatch DOID:0070548 primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:614190 LEXMATCH MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614613 LEXMATCH MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614613 LEXMATCH MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614613 LEXMATCH -MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch DOID:0060958 orofaciodigital syndrome XIV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13655 LEXMATCH -MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch DOID:0060958 orofaciodigital syndrome XIV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615948 LEXMATCH -MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch DOID:0060958 orofaciodigital syndrome XIV semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615948 LEXMATCH -MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch DOID:0060958 orofaciodigital syndrome XIV semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome xiv LEXMATCH -MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch DOID:0060958 orofaciodigital syndrome XIV semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615948 LEXMATCH -MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch DOID:0060958 orofaciodigital syndrome XIV semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615948 LEXMATCH -MONDO:0014413 orofaciodigital syndrome type 14 skos:closeMatch DOID:0060958 orofaciodigital syndrome XIV semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615948 LEXMATCH -MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13019 LEXMATCH -MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616277 LEXMATCH -MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:13019 LEXMATCH -MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616277 LEXMATCH -MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label mitochondrial short-chain enoyl-coa hydratase 1 deficiency LEXMATCH -MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616277 LEXMATCH -MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616277 LEXMATCH -MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:closeMatch DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616277 LEXMATCH -MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:closeMatch DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616281 LEXMATCH -MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:closeMatch DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616281 LEXMATCH -MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:closeMatch DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616281 LEXMATCH -MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:closeMatch DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616281 LEXMATCH -MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:closeMatch DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616281 LEXMATCH -MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:closeMatch DOID:0060948 Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616470 LEXMATCH -MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:closeMatch DOID:0060948 Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616470 LEXMATCH -MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:closeMatch DOID:0060948 Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616470 LEXMATCH -MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:closeMatch DOID:0060948 Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616470 LEXMATCH -MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:closeMatch DOID:0060948 Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616470 LEXMATCH -MONDO:0014936 ZTTK syndrome skos:closeMatch DOID:0060953 ZTTK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:13489 LEXMATCH -MONDO:0014936 ZTTK syndrome skos:closeMatch DOID:0060953 ZTTK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617140 LEXMATCH -MONDO:0014936 ZTTK syndrome skos:closeMatch DOID:0060953 ZTTK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617140 LEXMATCH -MONDO:0014936 ZTTK syndrome skos:closeMatch DOID:0060953 ZTTK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zhu-tokita-takenouchi-kim syndrome LEXMATCH -MONDO:0014936 ZTTK syndrome skos:closeMatch DOID:0060953 ZTTK syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym zttk multiple congenital anomalies-mental retardation syndrome LEXMATCH -MONDO:0014936 ZTTK syndrome skos:closeMatch DOID:0060953 ZTTK syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617140 LEXMATCH -MONDO:0014936 ZTTK syndrome skos:closeMatch DOID:0060953 ZTTK syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617140 LEXMATCH -MONDO:0014936 ZTTK syndrome skos:closeMatch DOID:0060953 ZTTK syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617140 LEXMATCH +MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch DOID:0070555 Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615598 LEXMATCH +MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch DOID:0070555 Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615598 LEXMATCH +MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch DOID:0070555 Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615598 LEXMATCH +MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch DOID:0070555 Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615598 LEXMATCH +MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:closeMatch DOID:0070555 Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615598 LEXMATCH +MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615830 LEXMATCH +MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615830 LEXMATCH +MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome 19p13 duplication syndrome LEXMATCH +MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615830 LEXMATCH +MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615830 LEXMATCH +MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:closeMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615830 LEXMATCH +MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616099 LEXMATCH +MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616099 LEXMATCH +MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label palmoplantar keratoderma and woolly hair LEXMATCH +MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616099 LEXMATCH +MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616099 LEXMATCH +MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:closeMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616099 LEXMATCH +MONDO:0014860 polycystic liver disease 2 skos:closeMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617004 LEXMATCH +MONDO:0014860 polycystic liver disease 2 skos:closeMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617004 LEXMATCH +MONDO:0014860 polycystic liver disease 2 skos:closeMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym polycystic liver disease 2 with or without kidney cysts LEXMATCH +MONDO:0014860 polycystic liver disease 2 skos:closeMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617004 LEXMATCH +MONDO:0014860 polycystic liver disease 2 skos:closeMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617004 LEXMATCH +MONDO:0014860 polycystic liver disease 2 skos:closeMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617004 LEXMATCH MONDO:0018116 galactosemia skos:closeMatch DOID:14695 galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005693 LEXMATCH MONDO:0018116 galactosemia skos:closeMatch DOID:14695 galactokinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d005693 LEXMATCH MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch DOID:14693 Clouston syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004476 LEXMATCH @@ -122,85 +105,50 @@ MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russel MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180860 LEXMATCH MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:180860 LEXMATCH MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:180860 LEXMATCH -MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch DOID:0060954 Holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301043 LEXMATCH -MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch DOID:0060954 Holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:301043 LEXMATCH -MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch DOID:0060954 Holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label holoprosencephaly 13, x-linked LEXMATCH -MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch DOID:0060954 Holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301043 LEXMATCH -MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch DOID:0060954 Holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301043 LEXMATCH -MONDO:0026763 holoprosencephaly 13, X-linked skos:closeMatch DOID:0060954 Holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:301043 LEXMATCH -MONDO:0030064 episodic ataxia, type 9 skos:closeMatch DOID:0060965 episodic ataxia type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618924 LEXMATCH -MONDO:0030064 episodic ataxia, type 9 skos:closeMatch DOID:0060965 episodic ataxia type 9 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618924 LEXMATCH -MONDO:0030064 episodic ataxia, type 9 skos:closeMatch DOID:0060965 episodic ataxia type 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618924 LEXMATCH -MONDO:0030064 episodic ataxia, type 9 skos:closeMatch DOID:0060965 episodic ataxia type 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618924 LEXMATCH -MONDO:0030064 episodic ataxia, type 9 skos:closeMatch DOID:0060965 episodic ataxia type 9 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618924 LEXMATCH -MONDO:0030105 galactosemia 4 skos:closeMatch DOID:0060969 galactosemia 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618881 LEXMATCH -MONDO:0030105 galactosemia 4 skos:closeMatch DOID:0060969 galactosemia 4 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618881 LEXMATCH -MONDO:0030105 galactosemia 4 skos:closeMatch DOID:0060969 galactosemia 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618881 LEXMATCH -MONDO:0030105 galactosemia 4 skos:closeMatch DOID:0060969 galactosemia 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618881 LEXMATCH -MONDO:0030105 galactosemia 4 skos:closeMatch DOID:0060969 galactosemia 4 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618881 LEXMATCH -MONDO:0030500 Loeys-Dietz syndrome 6 skos:closeMatch DOID:0060964 Loeys-Dietz syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619656 LEXMATCH -MONDO:0030500 Loeys-Dietz syndrome 6 skos:closeMatch DOID:0060964 Loeys-Dietz syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619656 LEXMATCH -MONDO:0030500 Loeys-Dietz syndrome 6 skos:closeMatch DOID:0060964 Loeys-Dietz syndrome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619656 LEXMATCH -MONDO:0030500 Loeys-Dietz syndrome 6 skos:closeMatch DOID:0060964 Loeys-Dietz syndrome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619656 LEXMATCH -MONDO:0030500 Loeys-Dietz syndrome 6 skos:closeMatch DOID:0060964 Loeys-Dietz syndrome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619656 LEXMATCH -MONDO:0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities skos:closeMatch DOID:0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619121 LEXMATCH -MONDO:0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities skos:closeMatch DOID:0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619121 LEXMATCH -MONDO:0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities skos:closeMatch DOID:0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619121 LEXMATCH -MONDO:0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities skos:closeMatch DOID:0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619121 LEXMATCH -MONDO:0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities skos:closeMatch DOID:0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619121 LEXMATCH -MONDO:0031062 polycystic kidney disease 7 skos:closeMatch DOID:0060952 polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620056 LEXMATCH -MONDO:0031062 polycystic kidney disease 7 skos:closeMatch DOID:0060952 polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620056 LEXMATCH -MONDO:0031062 polycystic kidney disease 7 skos:closeMatch DOID:0060952 polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620056 LEXMATCH -MONDO:0031062 polycystic kidney disease 7 skos:closeMatch DOID:0060952 polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620056 LEXMATCH -MONDO:0031062 polycystic kidney disease 7 skos:closeMatch DOID:0060952 polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620056 LEXMATCH -MONDO:0054770 orofaciodigital syndrome 18 skos:closeMatch DOID:0060961 orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617927 LEXMATCH -MONDO:0054770 orofaciodigital syndrome 18 skos:closeMatch DOID:0060961 orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617927 LEXMATCH -MONDO:0054770 orofaciodigital syndrome 18 skos:closeMatch DOID:0060961 orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label orofaciodigital syndrome xviii LEXMATCH -MONDO:0054770 orofaciodigital syndrome 18 skos:closeMatch DOID:0060961 orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617927 LEXMATCH -MONDO:0054770 orofaciodigital syndrome 18 skos:closeMatch DOID:0060961 orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617927 LEXMATCH -MONDO:0054770 orofaciodigital syndrome 18 skos:closeMatch DOID:0060961 orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617927 LEXMATCH -MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease skos:closeMatch DOID:0060951 polycystic kidney disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618061 LEXMATCH -MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease skos:closeMatch DOID:0060951 polycystic kidney disease 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618061 LEXMATCH -MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease skos:closeMatch DOID:0060951 polycystic kidney disease 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618061 LEXMATCH -MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease skos:closeMatch DOID:0060951 polycystic kidney disease 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618061 LEXMATCH -MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease skos:closeMatch DOID:0060951 polycystic kidney disease 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618061 LEXMATCH -MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia skos:closeMatch DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618850 LEXMATCH -MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia skos:closeMatch DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618850 LEXMATCH -MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia skos:closeMatch DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618850 LEXMATCH -MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia skos:closeMatch DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618850 LEXMATCH -MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia skos:closeMatch DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618850 LEXMATCH +MONDO:0030374 WHIM syndrome 2 skos:closeMatch DOID:0060973 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619407 LEXMATCH +MONDO:0030374 WHIM syndrome 2 skos:closeMatch DOID:0060973 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619407 LEXMATCH +MONDO:0030374 WHIM syndrome 2 skos:closeMatch DOID:0060973 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619407 LEXMATCH +MONDO:0030374 WHIM syndrome 2 skos:closeMatch DOID:0060973 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619407 LEXMATCH +MONDO:0030374 WHIM syndrome 2 skos:closeMatch DOID:0060973 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619407 LEXMATCH +MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch DOID:0060974 autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618529 LEXMATCH +MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch DOID:0060974 autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:618529 LEXMATCH +MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch DOID:0060974 autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618529 LEXMATCH +MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch DOID:0060974 autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618529 LEXMATCH +MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:closeMatch DOID:0060974 autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618529 LEXMATCH +MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:closeMatch DOID:0060977 polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617875 LEXMATCH +MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:closeMatch DOID:0060977 polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617875 LEXMATCH +MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:closeMatch DOID:0060977 polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617875 LEXMATCH +MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:closeMatch DOID:0060977 polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617875 LEXMATCH +MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:closeMatch DOID:0060977 polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617875 LEXMATCH +MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:closeMatch DOID:0060976 polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617874 LEXMATCH +MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:closeMatch DOID:0060976 polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617874 LEXMATCH +MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:closeMatch DOID:0060976 polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617874 LEXMATCH +MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:closeMatch DOID:0060976 polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617874 LEXMATCH +MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:closeMatch DOID:0060976 polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617874 LEXMATCH +MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0060971 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:178500 LEXMATCH +MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0060971 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:178500 LEXMATCH +MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0060971 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:178500 LEXMATCH +MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0060971 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:178500 LEXMATCH +MONDO:0800029 interstitial lung disease 2 skos:closeMatch DOID:0060971 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:178500 LEXMATCH MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:243150 LEXMATCH MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:243150 LEXMATCH MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:243150 LEXMATCH MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:243150 LEXMATCH MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:closeMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:243150 LEXMATCH -MONDO:0859310 orofaciodigital syndrome 19 skos:closeMatch DOID:0060960 orofaciodigital syndrome XIX semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620107 LEXMATCH -MONDO:0859310 orofaciodigital syndrome 19 skos:closeMatch DOID:0060960 orofaciodigital syndrome XIX semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620107 LEXMATCH -MONDO:0859310 orofaciodigital syndrome 19 skos:closeMatch DOID:0060960 orofaciodigital syndrome XIX semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620107 LEXMATCH -MONDO:0859310 orofaciodigital syndrome 19 skos:closeMatch DOID:0060960 orofaciodigital syndrome XIX semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620107 LEXMATCH -MONDO:0859310 orofaciodigital syndrome 19 skos:closeMatch DOID:0060960 orofaciodigital syndrome XIX semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620107 LEXMATCH -MONDO:0859341 hypotrichosis 15 skos:closeMatch DOID:0060968 hypotrichosis 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620177 LEXMATCH -MONDO:0859341 hypotrichosis 15 skos:closeMatch DOID:0060968 hypotrichosis 15 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620177 LEXMATCH -MONDO:0859341 hypotrichosis 15 skos:closeMatch DOID:0060968 hypotrichosis 15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620177 LEXMATCH -MONDO:0859341 hypotrichosis 15 skos:closeMatch DOID:0060968 hypotrichosis 15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620177 LEXMATCH -MONDO:0859341 hypotrichosis 15 skos:closeMatch DOID:0060968 hypotrichosis 15 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620177 LEXMATCH +MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:closeMatch DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620152 LEXMATCH +MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:closeMatch DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620152 LEXMATCH +MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:closeMatch DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620152 LEXMATCH +MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:closeMatch DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620152 LEXMATCH +MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:closeMatch DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620152 LEXMATCH +MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:closeMatch DOID:0070551 epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620411 LEXMATCH +MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:closeMatch DOID:0070551 epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620411 LEXMATCH +MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:closeMatch DOID:0070551 epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620411 LEXMATCH +MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:closeMatch DOID:0070551 epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620411 LEXMATCH +MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:closeMatch DOID:0070551 epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620411 LEXMATCH MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d001890 LEXMATCH MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:d001890 LEXMATCH MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref mesh:d001890 LEXMATCH MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 skos:relatedMatch skos:exactMatch mesh:d001890 LEXMATCH -MONDO:0957921 Cornelia de Lange syndrome 6 skos:closeMatch DOID:0060970 Cornelia de Lange syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620568 LEXMATCH -MONDO:0957921 Cornelia de Lange syndrome 6 skos:closeMatch DOID:0060970 Cornelia de Lange syndrome 6 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620568 LEXMATCH -MONDO:0957921 Cornelia de Lange syndrome 6 skos:closeMatch DOID:0060970 Cornelia de Lange syndrome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620568 LEXMATCH -MONDO:0957921 Cornelia de Lange syndrome 6 skos:closeMatch DOID:0060970 Cornelia de Lange syndrome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620568 LEXMATCH -MONDO:0957921 Cornelia de Lange syndrome 6 skos:closeMatch DOID:0060970 Cornelia de Lange syndrome 6 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620568 LEXMATCH -MONDO:0958230 orofaciodigital syndrome 20 skos:closeMatch DOID:0060962 orofaciodigital syndrome XX semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620718 LEXMATCH -MONDO:0958230 orofaciodigital syndrome 20 skos:closeMatch DOID:0060962 orofaciodigital syndrome XX semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620718 LEXMATCH -MONDO:0958230 orofaciodigital syndrome 20 skos:closeMatch DOID:0060962 orofaciodigital syndrome XX semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620718 LEXMATCH -MONDO:0958230 orofaciodigital syndrome 20 skos:closeMatch DOID:0060962 orofaciodigital syndrome XX semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620718 LEXMATCH -MONDO:0958230 orofaciodigital syndrome 20 skos:closeMatch DOID:0060962 orofaciodigital syndrome XX semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620718 LEXMATCH -MONDO:0970945 developmental and epileptic encephalopathy 116 skos:closeMatch DOID:0070545 developmental and epileptic encephalopathy 116 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620806 LEXMATCH -MONDO:0970945 developmental and epileptic encephalopathy 116 skos:closeMatch DOID:0070545 developmental and epileptic encephalopathy 116 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620806 LEXMATCH -MONDO:0970945 developmental and epileptic encephalopathy 116 skos:closeMatch DOID:0070545 developmental and epileptic encephalopathy 116 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620806 LEXMATCH MONDO:1010029 aleutian mink disease, human skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000453 LEXMATCH MONDO:1010029 aleutian mink disease, human skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:d000453 LEXMATCH MONDO:1010029 aleutian mink disease, human skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref mesh:d000453 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv index cf561864..ff276aa8 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv @@ -1637,8 +1637,6 @@ MONDO:0004966 gastritis skos:closeMatch ICD10CM:K29.7 Gastritis, unspecified sem MONDO:0004966 gastritis skos:closeMatch ICD10CM:K29.7 Gastritis, unspecified semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:4029 LEXMATCH MONDO:0004967 acute lymphoblastic leukemia skos:closeMatch ICD10CM:C91.00 Acute lymphoblastic leukemia not having achieved remission semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:9952 LEXMATCH MONDO:0004967 acute lymphoblastic leukemia skos:closeMatch ICD10CM:C91.00 Acute lymphoblastic leukemia not having achieved remission semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:9952 LEXMATCH -MONDO:0004980 atopic eczema skos:closeMatch ICD10CM:L20 Atopic dermatitis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:3310 LEXMATCH -MONDO:0004980 atopic eczema skos:closeMatch ICD10CM:L20 Atopic dermatitis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:3310 LEXMATCH MONDO:0004982 pancreatitis skos:closeMatch ICD10CM:K85.9 Acute pancreatitis, unspecified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:4989 LEXMATCH MONDO:0004982 pancreatitis skos:closeMatch ICD10CM:K85.9 Acute pancreatitis, unspecified semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:4989 LEXMATCH MONDO:0004992 cancer skos:closeMatch ICD10CM:C80.1 Malignant (primary) neoplasm, unspecified semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:162 LEXMATCH @@ -5507,7 +5505,9 @@ MONDO:0018998 Leber congenital amaurosis skos:closeMatch ICD10CM:H35.5 Hereditar MONDO:0019005 nephronophthisis skos:closeMatch ICD10CM:Q61.5 Medullary cystic kidney semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:12712 LEXMATCH MONDO:0019005 nephronophthisis skos:closeMatch ICD10CM:Q61.5 Medullary cystic kidney semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:12712 LEXMATCH MONDO:0019015 omphalocele skos:closeMatch ICD10CM:Q79.2 Exomphalos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:0060327 LEXMATCH +MONDO:0019015 omphalocele skos:closeMatch ICD10CM:Q79.2 Exomphalos semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch-INVERSE doid:0060327 LEXMATCH MONDO:0019015 omphalocele skos:closeMatch ICD10CM:Q79.2 Exomphalos semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0060327 LEXMATCH +MONDO:0019015 omphalocele skos:closeMatch ICD10CM:Q79.2 Exomphalos semapv:LexicalMatching oaklib 0.5 skos:exactMatch skos:exactMatch-INVERSE doid:0060327 LEXMATCH MONDO:0019016 maternally-inherited progressive external ophthalmoplegia skos:closeMatch ICD10CM:H49.4 Progressive external ophthalmoplegia semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0019016 LEXMATCH MONDO:0019023 cutaneous mastocytosis skos:closeMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:3663 LEXMATCH MONDO:0019023 cutaneous mastocytosis skos:closeMatch ICD10CM:D47.01 Cutaneous mastocytosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:3663 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv new file mode 100644 index 00000000..2dd753e4 --- /dev/null +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv @@ -0,0 +1,178 @@ +subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment +MONDO:0002520 hepatic porphyria skos:closeMatch Orphanet:659694 Hepatic porphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0162533 LEXMATCH +MONDO:0002520 hepatic porphyria skos:closeMatch Orphanet:659694 Hepatic porphyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c0162533 LEXMATCH +MONDO:0005283 retinal disorder skos:closeMatch Orphanet:123930 neural retina leucine zipper semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref hgnc:8002 LEXMATCH +MONDO:0005774 glanders skos:closeMatch Orphanet:659908 Glanders semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0017589 LEXMATCH +MONDO:0005774 glanders skos:closeMatch Orphanet:659908 Glanders semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym burkholderia mallei infection LEXMATCH +MONDO:0005774 glanders skos:closeMatch Orphanet:659908 Glanders semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c0017589 LEXMATCH +MONDO:0005888 ornithosis skos:closeMatch Orphanet:660053 Psittacosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0029291 LEXMATCH +MONDO:0005888 ornithosis skos:closeMatch Orphanet:660053 Psittacosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c0029291 LEXMATCH +MONDO:0007024 Yersinia pseudotuberculosis infectious disease skos:closeMatch Orphanet:659707 Yersinia pseudotuberculosis infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043410 LEXMATCH +MONDO:0007024 Yersinia pseudotuberculosis infectious disease skos:closeMatch Orphanet:659707 Yersinia pseudotuberculosis infection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c0043410 LEXMATCH +MONDO:0007369 hereditary coproporphyria skos:closeMatch Orphanet:659672 Harderoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label harderoporphyria LEXMATCH +MONDO:0007753 Frey syndrome skos:closeMatch Orphanet:662240 Frey syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d013547 LEXMATCH +MONDO:0007753 Frey syndrome skos:closeMatch Orphanet:662240 Frey syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d013547 LEXMATCH +MONDO:0008858 Behr syndrome skos:closeMatch Orphanet:1239 Behr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:210000 LEXMATCH +MONDO:0008858 Behr syndrome skos:closeMatch Orphanet:1239 Behr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0221061 LEXMATCH +MONDO:0008858 Behr syndrome skos:closeMatch Orphanet:1239 Behr syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref rdf:ID orphanet:1239 LEXMATCH +MONDO:0008858 Behr syndrome skos:closeMatch Orphanet:1239 Behr syndrome semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:0008858 LEXMATCH +MONDO:0008858 Behr syndrome skos:closeMatch Orphanet:1239 Behr syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:210000 LEXMATCH +MONDO:0008858 Behr syndrome skos:closeMatch Orphanet:1239 Behr syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c0221061 LEXMATCH +MONDO:0008858 Behr syndrome skos:closeMatch Orphanet:1239 Behr syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:210000 LEXMATCH +MONDO:0010359 Dent disease type 2 skos:closeMatch Orphanet:123978 OCRL inositol polyphosphate-5-phosphatase semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym dent disease 2 LEXMATCH +MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:closeMatch Orphanet:662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:300986 LEXMATCH +MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:closeMatch Orphanet:662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:300986 LEXMATCH +MONDO:0010512 intellectual disability, X-linked, syndromic, Bain type skos:closeMatch Orphanet:662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:300986 LEXMATCH +MONDO:0010645 oculocerebrorenal syndrome skos:closeMatch Orphanet:123978 OCRL inositol polyphosphate-5-phosphatase semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ocrl1 LEXMATCH +MONDO:0011141 megaloblastic anemia, folate-responsive skos:closeMatch Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:601775 LEXMATCH +MONDO:0011141 megaloblastic anemia, folate-responsive skos:closeMatch Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:601775 LEXMATCH +MONDO:0011141 megaloblastic anemia, folate-responsive skos:closeMatch Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:601775 LEXMATCH +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606232 LEXMATCH +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym chromosome 22q13.3 deletion syndrome LEXMATCH +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606232 LEXMATCH +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:606232 LEXMATCH +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:606232 LEXMATCH +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:606232 LEXMATCH +MONDO:0011652 Phelan-McDermid syndrome skos:closeMatch Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:606232 LEXMATCH +MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613443 LEXMATCH +MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613443 LEXMATCH +MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:613443 LEXMATCH +MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613443 LEXMATCH +MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613443 LEXMATCH +MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:613443 LEXMATCH +MONDO:0013656 intellectual disability, autosomal dominant 9 skos:closeMatch Orphanet:662367 NESCAV syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614255 LEXMATCH +MONDO:0013656 intellectual disability, autosomal dominant 9 skos:closeMatch Orphanet:662367 NESCAV syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614255 LEXMATCH +MONDO:0013656 intellectual disability, autosomal dominant 9 skos:closeMatch Orphanet:662367 NESCAV syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614255 LEXMATCH +MONDO:0014000 congenital heart defects, multiple types, 2 skos:closeMatch Orphanet:664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614980 LEXMATCH +MONDO:0014000 congenital heart defects, multiple types, 2 skos:closeMatch Orphanet:664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614980 LEXMATCH +MONDO:0014000 congenital heart defects, multiple types, 2 skos:closeMatch Orphanet:664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614980 LEXMATCH +MONDO:0014000 congenital heart defects, multiple types, 2 skos:closeMatch Orphanet:664404 6q25.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614980 LEXMATCH +MONDO:0014000 congenital heart defects, multiple types, 2 skos:closeMatch Orphanet:664404 6q25.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614980 LEXMATCH +MONDO:0014000 congenital heart defects, multiple types, 2 skos:closeMatch Orphanet:664404 6q25.1 microdeletion syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614980 LEXMATCH +MONDO:0014128 TCF12-related craniosynostosis skos:closeMatch Orphanet:672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615314 LEXMATCH +MONDO:0014128 TCF12-related craniosynostosis skos:closeMatch Orphanet:672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615314 LEXMATCH +MONDO:0014128 TCF12-related craniosynostosis skos:closeMatch Orphanet:672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615314 LEXMATCH +MONDO:0014705 craniosynostosis 6 skos:closeMatch Orphanet:672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616602 LEXMATCH +MONDO:0014705 craniosynostosis 6 skos:closeMatch Orphanet:672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616602 LEXMATCH +MONDO:0014705 craniosynostosis 6 skos:closeMatch Orphanet:672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616602 LEXMATCH +MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay skos:closeMatch Orphanet:659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617164 LEXMATCH +MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay skos:closeMatch Orphanet:659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617164 LEXMATCH +MONDO:0014948 short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay skos:closeMatch Orphanet:659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617164 LEXMATCH +MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch Orphanet:673574 Reactive angioendotheliomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label reactive angioendotheliomatosis LEXMATCH +MONDO:0015612 Dent disease skos:closeMatch Orphanet:123978 OCRL inositol polyphosphate-5-phosphatase semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym dent disease 2 LEXMATCH +MONDO:0018830 Kimura disease skos:closeMatch Orphanet:675396 Epithelioid hemangioma semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym angiolymphoid hyperplasia with eosinophilia LEXMATCH +MONDO:0023650 littoral cell angioma of the spleen skos:closeMatch Orphanet:673538 Littoral cell hemangioma of the spleen semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym littoral cell angioma LEXMATCH +MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:closeMatch Orphanet:662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617404 LEXMATCH +MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:closeMatch Orphanet:662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617404 LEXMATCH +MONDO:0024607 congenital muscular dystrophy with cataracts and intellectual disability skos:closeMatch Orphanet:662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617404 LEXMATCH +MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked skos:closeMatch Orphanet:675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:301078 LEXMATCH +MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked skos:closeMatch Orphanet:675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:301078 LEXMATCH +MONDO:0024777 immunodeficiency 98 with autoinflammation, X-linked skos:closeMatch Orphanet:675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:301078 LEXMATCH +MONDO:0030048 harderoporphyria skos:closeMatch Orphanet:659672 Harderoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618892 LEXMATCH +MONDO:0030048 harderoporphyria skos:closeMatch Orphanet:659672 Harderoporphyria semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0342859 LEXMATCH +MONDO:0030048 harderoporphyria skos:closeMatch Orphanet:659672 Harderoporphyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618892 LEXMATCH +MONDO:0030048 harderoporphyria skos:closeMatch Orphanet:659672 Harderoporphyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c0342859 LEXMATCH +MONDO:0030048 harderoporphyria skos:closeMatch Orphanet:659672 Harderoporphyria semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618892 LEXMATCH +MONDO:0030524 mucopolysaccharidosis, type 10 skos:closeMatch Orphanet:662216 Mucopolysaccharidosis type 10 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619698 LEXMATCH +MONDO:0030524 mucopolysaccharidosis, type 10 skos:closeMatch Orphanet:662216 Mucopolysaccharidosis type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619698 LEXMATCH +MONDO:0030524 mucopolysaccharidosis, type 10 skos:closeMatch Orphanet:662216 Mucopolysaccharidosis type 10 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619698 LEXMATCH +MONDO:0030858 immunodeficiency 75 skos:closeMatch Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619126 LEXMATCH +MONDO:0030858 immunodeficiency 75 skos:closeMatch Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619126 LEXMATCH +MONDO:0030858 immunodeficiency 75 skos:closeMatch Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619126 LEXMATCH +MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:closeMatch Orphanet:659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618577 LEXMATCH +MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:closeMatch Orphanet:659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618577 LEXMATCH +MONDO:0032820 neurodevelopmental disorder with structural brain anomalies and dysmorphic facies skos:closeMatch Orphanet:659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618577 LEXMATCH +MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:closeMatch Orphanet:664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618622 LEXMATCH +MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:closeMatch Orphanet:664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618622 LEXMATCH +MONDO:0032838 neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies skos:closeMatch Orphanet:664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618622 LEXMATCH +MONDO:0032886 Liang-Wang syndrome skos:closeMatch Orphanet:664438 Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618729 LEXMATCH +MONDO:0032886 Liang-Wang syndrome skos:closeMatch Orphanet:664438 Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym liang-wang syndrome LEXMATCH +MONDO:0032886 Liang-Wang syndrome skos:closeMatch Orphanet:664438 Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618729 LEXMATCH +MONDO:0032886 Liang-Wang syndrome skos:closeMatch Orphanet:664438 Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618729 LEXMATCH +MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch Orphanet:675767 Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618752 LEXMATCH +MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch Orphanet:675767 Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618752 LEXMATCH +MONDO:0032899 neutropenia, severe congenital, 8, autosomal dominant skos:closeMatch Orphanet:675767 Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618752 LEXMATCH +MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch Orphanet:659463 Imagawa-Matsumoto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618786 LEXMATCH +MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch Orphanet:659463 Imagawa-Matsumoto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c5394073 LEXMATCH +MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch Orphanet:659463 Imagawa-Matsumoto syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label imagawa-matsumoto syndrome LEXMATCH +MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch Orphanet:659463 Imagawa-Matsumoto syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618786 LEXMATCH +MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch Orphanet:659463 Imagawa-Matsumoto syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c5394073 LEXMATCH +MONDO:0032916 Imagawa-Matsumoto syndrome skos:closeMatch Orphanet:659463 Imagawa-Matsumoto syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618786 LEXMATCH +MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch Orphanet:676039 Combined immunodeficiency due to FOXN1 haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618806 LEXMATCH +MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch Orphanet:676039 Combined immunodeficiency due to FOXN1 haploinsufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618806 LEXMATCH +MONDO:0032928 T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant skos:closeMatch Orphanet:676039 Combined immunodeficiency due to FOXN1 haploinsufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618806 LEXMATCH +MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies skos:closeMatch Orphanet:662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618828 LEXMATCH +MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies skos:closeMatch Orphanet:662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618828 LEXMATCH +MONDO:0032942 neurodevelopmental disorder with microcephaly and dysmorphic facies skos:closeMatch Orphanet:662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618828 LEXMATCH +MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies skos:closeMatch Orphanet:662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618829 LEXMATCH +MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies skos:closeMatch Orphanet:662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618829 LEXMATCH +MONDO:0032943 neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies skos:closeMatch Orphanet:662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618829 LEXMATCH +MONDO:0043349 intravascular papillary endothelial hyperplasia skos:closeMatch Orphanet:673525 Intravascular papillary endothelial hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym masson's tumor LEXMATCH +MONDO:0043361 May-Thurner syndrome skos:closeMatch Orphanet:675404 May-Thurner syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym cockett syndrome LEXMATCH +MONDO:0060510 Cohen-Gibson syndrome skos:closeMatch Orphanet:659396 Cohen-Gibson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617561 LEXMATCH +MONDO:0060510 Cohen-Gibson syndrome skos:closeMatch Orphanet:659396 Cohen-Gibson syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c4479654 LEXMATCH +MONDO:0060510 Cohen-Gibson syndrome skos:closeMatch Orphanet:659396 Cohen-Gibson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617561 LEXMATCH +MONDO:0060510 Cohen-Gibson syndrome skos:closeMatch Orphanet:659396 Cohen-Gibson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c4479654 LEXMATCH +MONDO:0060510 Cohen-Gibson syndrome skos:closeMatch Orphanet:659396 Cohen-Gibson syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617561 LEXMATCH +MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:closeMatch Orphanet:662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:618092 LEXMATCH +MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:closeMatch Orphanet:662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618092 LEXMATCH +MONDO:0060763 intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities skos:closeMatch Orphanet:662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618092 LEXMATCH +MONDO:0100433 ACTB-associated syndromic thrombocytopenia skos:closeMatch Orphanet:674653 Actinomyopathy-associated syndromic thrombocytopenia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620475 LEXMATCH +MONDO:0100433 ACTB-associated syndromic thrombocytopenia skos:closeMatch Orphanet:674653 Actinomyopathy-associated syndromic thrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620475 LEXMATCH +MONDO:0100433 ACTB-associated syndromic thrombocytopenia skos:closeMatch Orphanet:674653 Actinomyopathy-associated syndromic thrombocytopenia semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620475 LEXMATCH +MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch Orphanet:674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616744 LEXMATCH +MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch Orphanet:674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616744 LEXMATCH +MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 skos:closeMatch Orphanet:674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616744 LEXMATCH +MONDO:0850112 breast implant-associated anaplastic large cell lymphoma skos:closeMatch Orphanet:667662 Breast implant-associated anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c4528210 LEXMATCH +MONDO:0850112 breast implant-associated anaplastic large cell lymphoma skos:closeMatch Orphanet:667662 Breast implant-associated anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c4528210 LEXMATCH +MONDO:0859143 Radio-Tartaglia syndrome skos:closeMatch Orphanet:662234 Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619312 LEXMATCH +MONDO:0859143 Radio-Tartaglia syndrome skos:closeMatch Orphanet:662234 Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619312 LEXMATCH +MONDO:0859143 Radio-Tartaglia syndrome skos:closeMatch Orphanet:662234 Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619312 LEXMATCH +MONDO:0859147 Marbach-Rustad progeroid syndrome skos:closeMatch Orphanet:659873 Wormian bones-micrognathia-abnormal dentition-progeroid syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619322 LEXMATCH +MONDO:0859147 Marbach-Rustad progeroid syndrome skos:closeMatch Orphanet:659873 Wormian bones-micrognathia-abnormal dentition-progeroid syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619322 LEXMATCH +MONDO:0859147 Marbach-Rustad progeroid syndrome skos:closeMatch Orphanet:659873 Wormian bones-micrognathia-abnormal dentition-progeroid syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619322 LEXMATCH +MONDO:0859193 neuroocular syndrome skos:closeMatch Orphanet:659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619539 LEXMATCH +MONDO:0859193 neuroocular syndrome skos:closeMatch Orphanet:659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619539 LEXMATCH +MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity skos:closeMatch Orphanet:659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619616 LEXMATCH +MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity skos:closeMatch Orphanet:659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619616 LEXMATCH +MONDO:0859206 neurodevelopmental disorder with hearing loss and spasticity skos:closeMatch Orphanet:659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619616 LEXMATCH +MONDO:0859219 Rauch-Steindl syndrome skos:closeMatch Orphanet:659642 Rauch-Steindl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619695 LEXMATCH +MONDO:0859219 Rauch-Steindl syndrome skos:closeMatch Orphanet:659642 Rauch-Steindl syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c5562061 LEXMATCH +MONDO:0859219 Rauch-Steindl syndrome skos:closeMatch Orphanet:659642 Rauch-Steindl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619695 LEXMATCH +MONDO:0859219 Rauch-Steindl syndrome skos:closeMatch Orphanet:659642 Rauch-Steindl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c5562061 LEXMATCH +MONDO:0859219 Rauch-Steindl syndrome skos:closeMatch Orphanet:659642 Rauch-Steindl syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619695 LEXMATCH +MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619911 LEXMATCH +MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619911 LEXMATCH +MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619911 LEXMATCH +MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619911 LEXMATCH +MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619911 LEXMATCH +MONDO:0859257 intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism skos:closeMatch Orphanet:660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619911 LEXMATCH +MONDO:0859267 tumor predisposition syndrome 2 skos:closeMatch Orphanet:661526 MBD4-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619975 LEXMATCH +MONDO:0859267 tumor predisposition syndrome 2 skos:closeMatch Orphanet:661526 MBD4-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619975 LEXMATCH +MONDO:0859267 tumor predisposition syndrome 2 skos:closeMatch Orphanet:661526 MBD4-related tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619975 LEXMATCH +MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities skos:closeMatch Orphanet:662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620073 LEXMATCH +MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities skos:closeMatch Orphanet:662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620073 LEXMATCH +MONDO:0859297 neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities skos:closeMatch Orphanet:662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620073 LEXMATCH +MONDO:0859301 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects skos:closeMatch Orphanet:662207 Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620083 LEXMATCH +MONDO:0859301 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects skos:closeMatch Orphanet:662207 Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620083 LEXMATCH +MONDO:0859301 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects skos:closeMatch Orphanet:662207 Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620083 LEXMATCH +MONDO:0859324 developmental delay, language impairment, and ocular abnormalities skos:closeMatch Orphanet:662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620141 LEXMATCH +MONDO:0859324 developmental delay, language impairment, and ocular abnormalities skos:closeMatch Orphanet:662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620141 LEXMATCH +MONDO:0859324 developmental delay, language impairment, and ocular abnormalities skos:closeMatch Orphanet:662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620141 LEXMATCH +MONDO:0859340 spinocerebellar ataxia 27B, late-onset skos:closeMatch Orphanet:675216 Spinocerebellar ataxia type 27B semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620174 LEXMATCH +MONDO:0859340 spinocerebellar ataxia 27B, late-onset skos:closeMatch Orphanet:675216 Spinocerebellar ataxia type 27B semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620174 LEXMATCH +MONDO:0859340 spinocerebellar ataxia 27B, late-onset skos:closeMatch Orphanet:675216 Spinocerebellar ataxia type 27B semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620174 LEXMATCH +MONDO:0859526 immunodeficiency 109 with lymphoproliferation skos:closeMatch Orphanet:664726 EBV-induced lymphoproliferative disease due to CD137 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620282 LEXMATCH +MONDO:0859526 immunodeficiency 109 with lymphoproliferation skos:closeMatch Orphanet:664726 EBV-induced lymphoproliferative disease due to CD137 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620282 LEXMATCH +MONDO:0859526 immunodeficiency 109 with lymphoproliferation skos:closeMatch Orphanet:664726 EBV-induced lymphoproliferative disease due to CD137 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620282 LEXMATCH +MONDO:0957955 immunodeficiency 114, folate-responsive skos:closeMatch Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620603 LEXMATCH +MONDO:0957955 immunodeficiency 114, folate-responsive skos:closeMatch Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620603 LEXMATCH +MONDO:0957955 immunodeficiency 114, folate-responsive skos:closeMatch Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620603 LEXMATCH +MONDO:0958278 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities skos:closeMatch Orphanet:664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620746 LEXMATCH +MONDO:0958278 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities skos:closeMatch Orphanet:664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620746 LEXMATCH +MONDO:0958278 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities skos:closeMatch Orphanet:664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620746 LEXMATCH +MONDO:0971007 neuroocular syndrome 1 skos:closeMatch Orphanet:659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619539 LEXMATCH +MONDO:0971007 neuroocular syndrome 1 skos:closeMatch Orphanet:659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619539 LEXMATCH +MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD skos:closeMatch Orphanet:664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615559 LEXMATCH +MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD skos:closeMatch Orphanet:664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615559 LEXMATCH +MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD skos:closeMatch Orphanet:664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615559 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv index 4d42d0d1..90e6bf67 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv @@ -25,46 +25,39 @@ MONDO:0005128 obsolete sensory system disease skos:exactMatch DOID:0050155 senso MONDO:0005641 aleutian mink disease skos:exactMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aleutian mink disease LEXMATCH MONDO:0005676 borna disease skos:exactMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borna disease LEXMATCH MONDO:0005862 obsolete multiple chemical sensitivity skos:exactMatch DOID:4661 multiple chemical sensitivity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation skos:exactMatch DOID:0081461 thyroid gland spindle epithelial tumor with thymus-like elements semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym settle LEXMATCH +MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation skos:exactMatch DOID:0081461 thyroid gland spindle epithelial tumor with thymus-like elements semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thyroid gland spindle cell tumor with thymus-like differentiation LEXMATCH MONDO:0006879 optic papillitis skos:exactMatch DOID:146 papilledema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilledema LEXMATCH MONDO:0007744 cholesterol-ester transfer protein deficiency skos:exactMatch DOID:0111368 cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c538324 LEXMATCH -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria skos:exactMatch DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:246450 LEXMATCH -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency skos:exactMatch DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:250620 LEXMATCH -MONDO:0009642 orofaciodigital syndrome type II skos:exactMatch DOID:0060959 orofaciodigital syndrome II semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:252100 LEXMATCH +MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 skos:exactMatch DOID:0070552 epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:144200 LEXMATCH +MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c536157 LEXMATCH +MONDO:0007860 focal palmoplantar and gingival keratoderma skos:exactMatch DOID:0070553 focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:148730 LEXMATCH MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch DOID:0060160 childhood spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym survival motor neuron spinal muscular atrophy LEXMATCH -MONDO:0010225 Dent disease type 1 skos:exactMatch DOID:0081453 Dent disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:300009 LEXMATCH -MONDO:0010359 Dent disease type 2 skos:exactMatch DOID:0081454 Dent disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:300555 LEXMATCH +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma skos:exactMatch DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:600962 LEXMATCH MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch DOID:0110952 obsolete Waardenburg syndrome type 2D semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency skos:exactMatch DOID:0070544 congenital glutamine deficiency semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610015 LEXMATCH -MONDO:0014413 orofaciodigital syndrome type 14 skos:exactMatch DOID:0060958 orofaciodigital syndrome XIV semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615948 LEXMATCH -MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency skos:exactMatch DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616277 LEXMATCH -MONDO:0014567 glutamate pyruvate transaminase 2 deficiency skos:exactMatch DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616281 LEXMATCH -MONDO:0014654 Ullrich congenital muscular dystrophy 2 skos:exactMatch DOID:0060948 Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616470 LEXMATCH -MONDO:0014936 ZTTK syndrome skos:exactMatch DOID:0060953 ZTTK syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617140 LEXMATCH +MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:exactMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c566472 LEXMATCH +MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 skos:exactMatch DOID:0070547 primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610475 LEXMATCH +MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:exactMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c566469 LEXMATCH +MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 skos:exactMatch DOID:0070546 primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610489 LEXMATCH +MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 skos:exactMatch DOID:0070548 primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614190 LEXMATCH +MONDO:0014272 palmoplantar keratoderma, Nagashima type skos:exactMatch DOID:0070555 Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615598 LEXMATCH +MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 skos:exactMatch DOID:0070549 primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615830 LEXMATCH +MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome skos:exactMatch DOID:0070554 palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616099 LEXMATCH +MONDO:0014860 polycystic liver disease 2 skos:exactMatch DOID:0060975 polycystic liver disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617004 LEXMATCH MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch DOID:0060039 autoimmune disease of skin and connective tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0018251 obsolete glycogen storage disease due to phosphorylase kinase deficiency skos:exactMatch DOID:0050594 glycogen storage disease IX semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0020796 Silver-Russell syndrome 1 skos:exactMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:180860 LEXMATCH MONDO:0021199 obsolete disease by anatomical system skos:exactMatch DOID:7 disease of anatomical entity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0021668 obsolete disorder involving pain skos:exactMatch DOID:0060164 pain disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0024657 obsolete macrocystic neurilemmoma skos:exactMatch DOID:3203 macrocystic neurilemmoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026763 holoprosencephaly 13, X-linked skos:exactMatch DOID:0060954 Holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301043 LEXMATCH -MONDO:0030064 episodic ataxia, type 9 skos:exactMatch DOID:0060965 episodic ataxia type 9 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618924 LEXMATCH -MONDO:0030105 galactosemia 4 skos:exactMatch DOID:0060969 galactosemia 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618881 LEXMATCH -MONDO:0030500 Loeys-Dietz syndrome 6 skos:exactMatch DOID:0060964 Loeys-Dietz syndrome 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619656 LEXMATCH -MONDO:0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities skos:exactMatch DOID:0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619121 LEXMATCH -MONDO:0031062 polycystic kidney disease 7 skos:exactMatch DOID:0060952 polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620056 LEXMATCH -MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy skos:exactMatch DOID:0060961 orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 18 LEXMATCH -MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy skos:exactMatch DOID:0060961 orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orofaciodigital syndrome type 18 LEXMATCH -MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy skos:exactMatch DOID:0060961 orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oral-facial-digital syndrome with short stature and brachymesophalangy LEXMATCH -MONDO:0054770 orofaciodigital syndrome 18 skos:exactMatch DOID:0060961 orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617927 LEXMATCH -MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease skos:exactMatch DOID:0060951 polycystic kidney disease 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618061 LEXMATCH -MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia skos:exactMatch DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618850 LEXMATCH +MONDO:0030374 WHIM syndrome 2 skos:exactMatch DOID:0060973 WHIM syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619407 LEXMATCH +MONDO:0032800 robinow syndrome, autosomal recessive 2 skos:exactMatch DOID:0060974 autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618529 LEXMATCH +MONDO:0044327 polycystic liver disease 4 with or without kidney cysts skos:exactMatch DOID:0060977 polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617875 LEXMATCH +MONDO:0054743 polycystic liver disease 3 with or without kidney cysts skos:exactMatch DOID:0060976 polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617874 LEXMATCH MONDO:0100140 obsolete mild COVID-19 infection skos:exactMatch DOID:0081014 non-severe COVID-19 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0100142 obsolete severe COVID-19 infection skos:exactMatch DOID:0081013 severe COVID-19 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0100143 obsolete critical COVID-19 infection skos:exactMatch DOID:0081012 critical COVID-19 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800029 interstitial lung disease 2 skos:exactMatch DOID:0060971 interstitial lung disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:178500 LEXMATCH MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 skos:exactMatch DOID:14671 multiple intestinal atresia semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:243150 LEXMATCH -MONDO:0859310 orofaciodigital syndrome 19 skos:exactMatch DOID:0060960 orofaciodigital syndrome XIX semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620107 LEXMATCH -MONDO:0859341 hypotrichosis 15 skos:exactMatch DOID:0060968 hypotrichosis 15 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620177 LEXMATCH -MONDO:0957921 Cornelia de Lange syndrome 6 skos:exactMatch DOID:0060970 Cornelia de Lange syndrome 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620568 LEXMATCH -MONDO:0958230 orofaciodigital syndrome 20 skos:exactMatch DOID:0060962 orofaciodigital syndrome XX semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620718 LEXMATCH -MONDO:0970945 developmental and epileptic encephalopathy 116 skos:exactMatch DOID:0070545 developmental and epileptic encephalopathy 116 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620806 LEXMATCH +MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy skos:exactMatch DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620152 LEXMATCH +MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 skos:exactMatch DOID:0070551 epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620411 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv index 1ae1a65c..2e2ff213 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd10cm.tsv @@ -568,7 +568,6 @@ MONDO:0004952 Hodgkins lymphoma skos:exactMatch ICD10CM:C81 Hodgkin lymphoma sem MONDO:0004967 acute lymphoblastic leukemia skos:exactMatch ICD10CM:C91.0 Acute lymphoblastic leukemia [ALL] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute lymphoblastic leukemia LEXMATCH MONDO:0004967 acute lymphoblastic leukemia skos:exactMatch ICD10CM:C91.0 Acute lymphoblastic leukemia [ALL] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute lymphoblastic leukemia LEXMATCH MONDO:0004969 acute quadriplegic myopathy skos:exactMatch ICD10CM:G72.81 Critical illness myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute quadriplegic myopathy LEXMATCH -MONDO:0004980 atopic eczema skos:exactMatch ICD10CM:L20 Atopic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atopic dermatitis LEXMATCH MONDO:0004980 atopic eczema skos:exactMatch ICD10CM:L20.0 Besnier's prurigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label besnier's prurigo LEXMATCH MONDO:0004980 atopic eczema skos:exactMatch ICD10CM:L20.81 Atopic neurodermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atopic neurodermatitis LEXMATCH MONDO:0005009 congestive heart failure skos:exactMatch ICD10CM:I50.9 Heart failure, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congestive heart disease LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv index d949ef54..7be8bb1b 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_orphanet.tsv @@ -1,880 +1,912 @@ -subject_id subject_label predicate_id object_id object_label mapping_justification confidence comment -MONDO:0015076 obsolete rare parathyroid tumor skos:exactMatch Orphanet:100090 Rare parathyroid tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015081 obsolete neuroendocrine tumor with other location skos:exactMatch Orphanet:100101 Neuroendocrine tumor with other location semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015088 obsolete autosomal dominant pure spastic paraplegia skos:exactMatch Orphanet:100980 Autosomal dominant pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015089 obsolete autosomal recessive complex spastic paraplegia skos:exactMatch Orphanet:100981 Autosomal recessive complex spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015090 obsolete autosomal recessive pure spastic paraplegia skos:exactMatch Orphanet:100982 Autosomal recessive pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015106 obsolete rare urogenital disease skos:exactMatch Orphanet:101433 Rare urogenital disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015107 obsolete rare genetic eye disease skos:exactMatch Orphanet:101435 Rare genetic eye disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015110 obsolete genetic cardiac rhythm disease skos:exactMatch Orphanet:101934 Genetic cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015111 obsolete gastroesophageal disease skos:exactMatch Orphanet:101936 Rare gastroesophageal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015112 obsolete rare pancreatic disease skos:exactMatch Orphanet:101937 Rare pancreatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015113 obsolete rare vascular liver disease skos:exactMatch Orphanet:101938 Rare vascular liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015114 obsolete rare parenchymal liver disease skos:exactMatch Orphanet:101939 Rare parenchymal liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015115 obsolete rare genetic metabolic liver disease skos:exactMatch Orphanet:101940 Rare metabolic liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015116 obsolete rare biliary tract disease skos:exactMatch Orphanet:101941 Rare biliary tract disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015117 obsolete rare hepatic and biliary tract tumor skos:exactMatch Orphanet:101943 Rare hepatic and biliary tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015118 obsolete rare pulmonary disease skos:exactMatch Orphanet:101944 Rare pulmonary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015119 obsolete bronchopulmonary tumor skos:exactMatch Orphanet:101945 Rare bronchopulmonary tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015121 obsolete rare eye tumor skos:exactMatch Orphanet:101950 Rare eye tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015122 obsolete rare diabetes mellitus skos:exactMatch Orphanet:101952 Rare diabetes mellitus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015123 obsolete rare inherited dyslipidemia skos:exactMatch Orphanet:101953 Rare dyslipidemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015124 obsolete rare adrenal disease skos:exactMatch Orphanet:101954 Rare adrenal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015125 obsolete rare thyroid disease skos:exactMatch Orphanet:101955 Rare thyroid disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015130 obsolete acquired chronic primary adrenal insufficiency skos:exactMatch Orphanet:101963 Acquired chronic primary adrenal insufficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015132 obsolete immunodeficiency predominantly affecting antibody production skos:exactMatch Orphanet:101977 Immunodeficiency predominantly affecting antibody production semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015133 obsolete quantitative and/or qualitative congenital phagocyte defect skos:exactMatch Orphanet:101985 Quantitative and/or qualitative congenital phagocyte defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015135 obsolete primary immunodeficiency due to a genetic defect in innate immunity skos:exactMatch Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015139 obsolete rare epilepsy skos:exactMatch Orphanet:101998 Rare epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015141 obsolete disorder of medulla oblongata skos:exactMatch Orphanet:102000 Medullar disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015143 obsolete rare movement disorder skos:exactMatch Orphanet:102003 Rare movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015144 obsolete brain inflammatory disease skos:exactMatch Orphanet:102005 Brain inflammatory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015145 obsolete neurovascular malformation skos:exactMatch Orphanet:102006 Neurovascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015162 obsolete rare syndromic intellectual disability skos:exactMatch Orphanet:102369 Rare syndromic intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015180 obsolete intestinal disease due to fat malabsorption skos:exactMatch Orphanet:104005 Intestinal disease due to fat malabsorption semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015188 obsolete metabolic disorder with intestinal involvement skos:exactMatch Orphanet:104013 Metabolic disease with intestinal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015207 obsolete non-syndromic esophageal malformation skos:exactMatch Orphanet:108959 Non-syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015208 obsolete syndromic esophageal malformation skos:exactMatch Orphanet:108961 Syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015209 obsolete non-syndromic gastroduodenal malformation skos:exactMatch Orphanet:108963 Non-syndromic gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015210 obsolete syndromic gastroduodenal malformation skos:exactMatch Orphanet:108965 Syndromic gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015214 obsolete syndromic visceral malformation skos:exactMatch Orphanet:108973 Syndromic visceral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015215 obsolete non-syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108977 Non-syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015216 obsolete syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108979 Syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015219 obsolete non-syndromic central nervous system malformation skos:exactMatch Orphanet:108989 Non-syndromic central nervous system malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015220 obsolete syndrome with a central nervous system malformation as major feature skos:exactMatch Orphanet:108991 Syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108993 Non-syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015222 obsolete syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108995 Syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015223 obsolete rare anemia skos:exactMatch Orphanet:108997 Rare anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015224 obsolete rare intoxication skos:exactMatch Orphanet:108999 Rare disorder due to toxic effects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015227 obsolete non-syndromic limb malformation skos:exactMatch Orphanet:109011 Non-syndromic limb malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015245 obsolete rare intestinal disease skos:exactMatch Orphanet:117569 Rare intestinal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015305 obsolete rare endometriosis skos:exactMatch Orphanet:137820 Extrapelvic endometriosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015310 obsolete syndromic optic nerve hypoplasia skos:exactMatch Orphanet:137905 Syndromic optic nerve hypoplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015319 obsolete rare disease with Pierre Robin syndrome skos:exactMatch Orphanet:138044 Rare disease with Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015323 obsolete teratogenic Pierre Robin syndrome skos:exactMatch Orphanet:138059 Teratogenic Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015328 obsolete rare bone development disorder skos:exactMatch Orphanet:139012 Rare bone development disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015329 obsolete malformation syndrome with short stature skos:exactMatch Orphanet:139021 Malformation syndrome with short stature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015330 obsolete overgrowth/obesity syndrome skos:exactMatch Orphanet:139024 Overgrowth/obesity syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement skos:exactMatch Orphanet:139027 Rare developmental defect with skin/mucosae involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015332 obsolete rare developmental defect with connective tissue involvement skos:exactMatch Orphanet:139030 Rare developmental defect with connective tissue involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015334 obsolete branchial arch or oral-acral syndrome skos:exactMatch Orphanet:139036 Branchial arch or oral-acral syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015335 obsolete Mendelian syndromes with cleft lip/palate skos:exactMatch Orphanet:139039 Orofacial clefting syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:139042 Malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015359 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015360 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy skos:exactMatch Orphanet:140456 Autosomal dominant hereditary axonal motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015361 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015365 obsolete autosomal dominant hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140474 Autosomal dominant hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015366 obsolete autosomal recessive hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140477 Autosomal recessive hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015368 obsolete neuro-ophthalmological disease skos:exactMatch Orphanet:140653 Neuro-ophthalmological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015475 obsolete rare head and neck malformation skos:exactMatch Orphanet:155832 Rare head and neck malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015485 obsolete primary hereditary glaucoma skos:exactMatch Orphanet:156005 Primary early-onset glaucoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015488 obsolete predominantly large-vessel vasculitis skos:exactMatch Orphanet:156140 Predominantly large-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015489 obsolete predominantly medium-vessel vasculitis skos:exactMatch Orphanet:156143 Predominantly medium-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015490 obsolete predominantly small-vessel vasculitis skos:exactMatch Orphanet:156146 Predominantly small-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015495 obsolete otomandibular dysplasia associated with monogenic syndromes skos:exactMatch Orphanet:156202 Otomandibular dysplasia associated with monogenic syndromes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015499 obsolete paralytic facial malformation skos:exactMatch Orphanet:156224 Paralytic facial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations skos:exactMatch Orphanet:156237 Syndrome or malformation associated with head and neck malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015502 obsolete pinnae and external auditory canal anomaly skos:exactMatch Orphanet:156243 Pinnae and external auditory canal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015504 obsolete larynx anomaly skos:exactMatch Orphanet:156249 Larynx anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015506 obsolete rare syndrome with cardiac malformations skos:exactMatch Orphanet:156532 Rare syndrome with cardiac malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015507 obsolete rare genetic hepatic disease skos:exactMatch Orphanet:156601 Rare genetic hepatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015508 obsolete hereditary parenchymatous liver disease skos:exactMatch Orphanet:156604 Genetic parenchymatous liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015509 obsolete hereditary biliary tract disease skos:exactMatch Orphanet:156607 Genetic biliary tract disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015510 obsolete rare genetic respiratory disease skos:exactMatch Orphanet:156610 Rare genetic respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015511 obsolete rare genetic urogenital disease skos:exactMatch Orphanet:156619 Rare genetic urogenital disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015512 obsolete genetic hypertension skos:exactMatch Orphanet:156629 Rare genetic cause of hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015513 obsolete rare genetic endocrine disease skos:exactMatch Orphanet:156638 Rare genetic endocrine disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015549 obsolete rare genetic hematologic disease skos:exactMatch Orphanet:158300 Rare genetic hematologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration skos:exactMatch Orphanet:163209 Non-syndromic cerebral malformation due to abnormal neuronal migration semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015575 obsolete rare bacterial infectious disease skos:exactMatch Orphanet:163582 Rare bacterial infectious disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015576 obsolete rare viral disease skos:exactMatch Orphanet:163585 Rare viral disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015577 obsolete rare parasitic disease skos:exactMatch Orphanet:163588 Rare parasitic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015578 obsolete rare mycosis skos:exactMatch Orphanet:163591 Rare mycosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015582 obsolete rare disorder related with pregnancy, childbirth and puerperium skos:exactMatch Orphanet:163637 Rare disorder related with pregnancy, childbirth and puerperium semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015603 obsolete rare odontal or periodontal disorder skos:exactMatch Orphanet:164001 Rare odontal or periodontal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015615 obsolete rare genetic gastroenterological disease skos:exactMatch Orphanet:165652 Rare genetic gastroenterological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015616 obsolete rare genetic intestinal disease skos:exactMatch Orphanet:165655 Genetic intestinal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015617 obsolete hereditary gastro-esophageal disease skos:exactMatch Orphanet:165658 Genetic gastro-esophageal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015618 obsolete genetic pancreatic disease skos:exactMatch Orphanet:165661 Genetic pancreatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015620 obsolete syndromic urogenital tract malformation skos:exactMatch Orphanet:165707 Syndromic urogenital tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015621 obsolete rare abdominal surgical disease skos:exactMatch Orphanet:165711 Rare abdominal surgical disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015651 obsolete neurocutaneous syndrome with epilepsy skos:exactMatch Orphanet:166466 Neurocutaneous syndrome with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015652 obsolete chromosomal anomaly with epilepsy as a major feature skos:exactMatch Orphanet:166469 Chromosomal anomaly with epilepsy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015654 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes skos:exactMatch Orphanet:166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015655 obsolete cerebral malformation with epilepsy skos:exactMatch Orphanet:166478 Cerebral malformation with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015656 obsolete metabolic disease with epilepsy skos:exactMatch Orphanet:166481 Metabolic diseases with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015657 obsolete inflammatory and autoimmune disease with epilepsy skos:exactMatch Orphanet:166484 Inflammatory and autoimmune disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015658 obsolete cerebral diseases of vascular origin with epilepsy skos:exactMatch Orphanet:166487 Cerebral diseases of vascular origin with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015659 obsolete infectious disease with epilepsy skos:exactMatch Orphanet:166490 Infectious disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015662 obsolete hemorrhagic disorder due to an acquired coagulation factor defect skos:exactMatch Orphanet:166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015668 obsolete hereditary dentin defect skos:exactMatch Orphanet:167759 Hereditary dentin defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015669 obsolete rare disease with dentinogenesis imperfecta skos:exactMatch Orphanet:167762 Rare disease with dentinogenesis imperfecta semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015673 obsolete rare cardiac tumor skos:exactMatch Orphanet:168194 Rare cardiac tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015682 obsolete primary peritoneal tumor skos:exactMatch Orphanet:168803 Primary peritoneal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015710 obsolete immune dysregulation disease with immunodeficiency skos:exactMatch Orphanet:169361 Immune dysregulation disease with immunodeficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015765 obsolete congenital myopathy with cores skos:exactMatch Orphanet:172976 Congenital myopathy with cores semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015777 obsolete adult hypothyroidism skos:exactMatch Orphanet:177101 Rare adult hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015778 obsolete syndromic hypothyroidism skos:exactMatch Orphanet:177107 Syndromic hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015789 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations skos:exactMatch Orphanet:178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015823 obsolete primary immunodeficiency due to a defect in adaptive immunity skos:exactMatch Orphanet:179006 Primary immunodeficiency due to a defect in adaptive immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015846 obsolete syndromic uterovaginal malformation skos:exactMatch Orphanet:180148 Syndromic uterovaginal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015851 obsolete rare breast malformation skos:exactMatch Orphanet:180163 Rare breast malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015852 obsolete excess breast volume or number skos:exactMatch Orphanet:180170 Excess breast volume or number semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015853 obsolete deficient breast volume or number skos:exactMatch Orphanet:180173 Deficient breast volume or number semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015857 obsolete rare non-malformative gynecologic or obstetric disease skos:exactMatch Orphanet:180199 Rare non-malformative gynecologic or obstetric disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015858 obsolete rare non-malformative breast disease skos:exactMatch Orphanet:180202 Rare non-malformative breast disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015859 obsolete rare non-malformative uterovaginal or vulvovaginal disease skos:exactMatch Orphanet:180205 Rare non-malformative uterovaginal or vulvovaginal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015860 obsolete anomaly of puberty or/and menstrual cycle skos:exactMatch Orphanet:180208 Anomaly of puberty or/and menstrual cycle semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015861 obsolete rare uterine adnexal tumor skos:exactMatch Orphanet:180220 Rare uterine adnexal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015868 obsolete rare breast tumor skos:exactMatch Orphanet:180250 Rare breast tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015870 obsolete rare malignant breast tumor skos:exactMatch Orphanet:180257 Rare malignant breast tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015875 obsolete rare non-malformative uterine adnexal disease skos:exactMatch Orphanet:180303 Rare non-malformative uterine adnexal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015876 obsolete rare vulvovaginal tumor skos:exactMatch Orphanet:180312 Rare vulvovaginal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015877 obsolete malformative syndrome with dentinogenesis imperfecta skos:exactMatch Orphanet:180766 Malformative syndrome with dentinogenesis imperfecta semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015879 obsolete non-syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180776 Non-syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015880 obsolete syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180779 Syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015881 obsolete gastroesophageal tumor skos:exactMatch Orphanet:180821 Rare gastroesophageal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015886 obsolete rare diabetes mellitus type 1 skos:exactMatch Orphanet:181371 Rare diabetes mellitus type 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015887 obsolete rare diabetes mellitus type 2 skos:exactMatch Orphanet:181376 Rare diabetes mellitus type 2 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015888 obsolete other rare diabetes mellitus skos:exactMatch Orphanet:181381 Other rare diabetes mellitus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015889 obsolete rare hypothalamic or pituitary disease skos:exactMatch Orphanet:181384 Rare hypothalamic or pituitary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015890 obsolete rare disorder with congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015891 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies skos:exactMatch Orphanet:181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015893 obsolete rare hypothyroidism skos:exactMatch Orphanet:181396 Rare hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015894 obsolete rare hyperthyroidism skos:exactMatch Orphanet:181399 Rare hyperthyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015896 obsolete rare hypoparathyroidism skos:exactMatch Orphanet:181405 Rare hypoparathyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015897 obsolete rare hyperparathyroidism skos:exactMatch Orphanet:181408 Rare hyperparathyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015899 obsolete rare primary hyperaldosteronism skos:exactMatch Orphanet:181415 Rare primary hyperaldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015901 obsolete rare inherited hyperlipidemia skos:exactMatch Orphanet:181422 Rare hyperlipidemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism skos:exactMatch Orphanet:181441 Rare disorder with hypergonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015910 obsolete rare constitutional hemolytic anemia skos:exactMatch Orphanet:182043 Rare constitutional hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015911 obsolete rare acquired hemolytic anemia skos:exactMatch Orphanet:182047 Rare acquired hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015913 obsolete rare thrombotic disease of hematologic origin skos:exactMatch Orphanet:182054 Rare thrombotic disease of hematologic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015915 obsolete cerebellar malformation skos:exactMatch Orphanet:182061 Cerebellar malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015916 obsolete rare neuroinflammatory or neuroimmunological disease skos:exactMatch Orphanet:182064 Rare neuroinflammatory or neuroimmunological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015918 obsolete rare neurodegenerative disease skos:exactMatch Orphanet:182070 Rare neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015921 obsolete ARX-related epileptic encephalopathy skos:exactMatch Orphanet:182079 ARX-related epileptic encephalopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015922 obsolete channelopathy with epilepsy skos:exactMatch Orphanet:182083 Channelopathy with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015930 obsolete respiratory malformation skos:exactMatch Orphanet:182111 Respiratory malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015931 obsolete rare urogenital tumor skos:exactMatch Orphanet:182114 Rare urogenital tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015940 obsolete rare rheumatologic disease skos:exactMatch Orphanet:182231 Rare rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015945 obsolete polymalformative genetic syndrome with increased risk of developing cancer skos:exactMatch Orphanet:183422 Polymalformative genetic syndrome with increased risk of developing cancer semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015946 obsolete rare genetic epidermal disorder skos:exactMatch Orphanet:183426 Genetic epidermal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015948 obsolete rare genetic skin vascular disorder skos:exactMatch Orphanet:183478 Genetic skin vascular disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015949 obsolete rare genetic subcutaneous tissue disorder skos:exactMatch Orphanet:183484 Genetic subcutaneous tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015950 obsolete inherited skin tumor skos:exactMatch Orphanet:183487 Genetic skin tumor or hamartoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015953 obsolete genetic central nervous system and retinal vascular disease skos:exactMatch Orphanet:183503 Genetic central nervous system and retinal vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015954 obsolete rare genetic headache disorder skos:exactMatch Orphanet:183509 Rare genetic headache semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015955 obsolete rare genetic epilepsy skos:exactMatch Orphanet:183512 Rare genetic epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015957 obsolete rare genetic movement disorder skos:exactMatch Orphanet:183521 Rare genetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015958 obsolete rare genetic bone disease skos:exactMatch Orphanet:183524 Rare genetic bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015959 obsolete inherited syndrome with bone tumors as a major feature skos:exactMatch Orphanet:183527 Genetic bone tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015960 obsolete rare genetic developmental defect during embryogenesis skos:exactMatch Orphanet:183530 Rare genetic developmental defect during embryogenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015961 obsolete hereditary head and neck malformation skos:exactMatch Orphanet:183583 Genetic head and neck malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015963 obsolete inherited renal tumor skos:exactMatch Orphanet:183595 Genetic renal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015966 obsolete hereditary eye tumor skos:exactMatch Orphanet:183619 Genetic eye tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015968 obsolete rare genetic hypothalamic or pituitary disease skos:exactMatch Orphanet:183628 Rare genetic hypothalamic or pituitary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015969 obsolete rare genetic thyroid disease skos:exactMatch Orphanet:183631 Rare genetic thyroid disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015970 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder skos:exactMatch Orphanet:183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015971 obsolete rare genetic adrenal disease skos:exactMatch Orphanet:183637 Rare genetic adrenal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015972 obsolete rare constitutional anemia skos:exactMatch Orphanet:183651 Rare constitutional anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015980 obsolete rare genetic gynecological and obstetrical diseases skos:exactMatch Orphanet:183731 Rare genetic gynecological and obstetrical diseases semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015981 obsolete inherited gynecological tumor skos:exactMatch Orphanet:183734 Genetic gynecological tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015982 obsolete rare genetic intellectual disability skos:exactMatch Orphanet:183757 Rare genetic intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0015984 obsolete rare genetic immune disease skos:exactMatch Orphanet:183770 Rare genetic immune disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016034 obsolete cleft lip with or without cleft palate skos:exactMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016054 obsolete cerebral malformation skos:exactMatch Orphanet:199633 Non-syndromic cerebral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016055 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature skos:exactMatch Orphanet:199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016072 obsolete anomaly of puberty or/and menstrual cycle of genetic origin skos:exactMatch Orphanet:202940 Anomaly of puberty or/and menstrual cycle of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016104 obsolete infectious disease with peripheral neuropathy skos:exactMatch Orphanet:206613 Infectious disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016109 obsolete autosomal recessive distal myopathy skos:exactMatch Orphanet:206653 Autosomal recessive distal myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016110 obsolete non-dystrophic myopathy skos:exactMatch Orphanet:206656 Non-dystrophic myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016114 obsolete bulbospinal muscular atrophy of childhood skos:exactMatch Orphanet:206704 Bulbospinal muscular atrophy of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016115 obsolete bulbospinal muscular atrophy of adulthood skos:exactMatch Orphanet:206707 Bulbospinal muscular atrophy of adult semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016116 obsolete generalized bulbospinal muscular atrophy skos:exactMatch Orphanet:206710 Generalized bulbospinal muscular atrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016118 obsolete muscular glycogenosis skos:exactMatch Orphanet:206959 Muscular glycogenosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016131 obsolete spinal muscular atrophy associated with central nervous system anomaly skos:exactMatch Orphanet:207012 Spinal muscular atrophy associated with central nervous system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016132 obsolete rare hereditary disease with peripheral neuropathy skos:exactMatch Orphanet:207015 Rare hereditary disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016133 obsolete rare hereditary metabolic disease with peripheral neuropathy skos:exactMatch Orphanet:207018 Rare hereditary metabolic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016134 obsolete rare hereditary systemic disease with peripheral neuropathy skos:exactMatch Orphanet:207021 Rare hereditary systemic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016135 obsolete rare hereditary neurologic disease with peripheral neuropathy skos:exactMatch Orphanet:207025 Rare hereditary neurologic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016137 obsolete acute and subacute inflammatory demyelinating polyneuropathy skos:exactMatch Orphanet:207038 Acute and subacute inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016138 obsolete malignant lymphoma with peripheral neuropathy skos:exactMatch Orphanet:207046 Malignant lymphoma with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016150 obsolete qualitative or quantitative defects of integrin alpha-7 skos:exactMatch Orphanet:207098 Qualitative or quantitative defects of integrin alpha-7 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016152 obsolete qualitative or quantitative defects of calpain skos:exactMatch Orphanet:207104 Qualitative or quantitative defects of calpain semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016154 obsolete qualitative or quantitative defects of myotubularin skos:exactMatch Orphanet:207110 Qualitative or quantitative defects of myotubularin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016157 obsolete qualitative or quantitative defects of fukutin skos:exactMatch Orphanet:207122 Qualitative or quantitative defects of fukutin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016169 obsolete chronic acquired demyelinating polyneuropathy skos:exactMatch Orphanet:208974 Chronic acquired demyelinating polyneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016170 obsolete chronic polyradiculoneuropathy skos:exactMatch Orphanet:208978 Chronic polyradiculoneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016172 obsolete acquired sensory ganglionopathy skos:exactMatch Orphanet:208984 Acquired sensory ganglionopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016177 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016178 obsolete peripheral neuropathy associated with monoclonal gammopathy skos:exactMatch Orphanet:209010 Peripheral neuropathy associated with monoclonal gammopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016179 obsolete acquired amyloid peripheral neuropathy skos:exactMatch Orphanet:209013 Acquired amyloid peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016180 obsolete hematological disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209016 Hematological disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016181 obsolete solid tumor associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209019 Solid tumor associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016182 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase skos:exactMatch Orphanet:209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016183 obsolete qualitative or quantitative defects of protein glycosyltransferase-like skos:exactMatch Orphanet:209027 Qualitative or quantitative defects of protein glycosyltransferase-like semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016196 obsolete qualitative or quantitative defects of emerin skos:exactMatch Orphanet:209188 Qualitative or quantitative defects of emerin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016200 obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase skos:exactMatch Orphanet:209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016221 obsolete temporomandibular joint anomaly skos:exactMatch Orphanet:210581 Temporomandibular joint anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016228 obsolete rare vascular tumor skos:exactMatch Orphanet:211237 Rare vascular tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016229 obsolete hereditary vascular anomaly skos:exactMatch Orphanet:211240 Genetic vascular anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016230 obsolete simple vascular malformation skos:exactMatch Orphanet:211243 Simple vascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016232 obsolete rare venous malformation skos:exactMatch Orphanet:211252 Rare venous malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016233 obsolete rare lymphatic system malformation skos:exactMatch Orphanet:211255 Rare lymphatic system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016235 obsolete complex vascular malformation with associated anomalies skos:exactMatch Orphanet:211277 Complex vascular malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016252 obsolete rare uterine cancer skos:exactMatch Orphanet:213564 Rare uterine cancer semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016253 obsolete rare cancer of corpus uteri skos:exactMatch Orphanet:213569 Rare cancer of corpus uteri semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016274 obsolete rare cancer of cervix uteri skos:exactMatch Orphanet:213761 Rare cancer of cervix uteri semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016320 obsolete rare hereditary thrombophilia skos:exactMatch Orphanet:217454 Rare hereditary thrombophilia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016343 obsolete unclassified cardiomyopathy skos:exactMatch Orphanet:217678 Unclassified cardiomyopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016347 obsolete rare cardiac rhythm disease skos:exactMatch Orphanet:218436 Rare cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016348 obsolete non-genetic cardiac rhythm disease skos:exactMatch Orphanet:218439 Non-genetic cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016375 obsolete acquired peripheral movement disorder skos:exactMatch Orphanet:221114 Acquired peripheral movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016397 obsolete lysosomal disease with epilepsy skos:exactMatch Orphanet:225681 Lysosomal disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016398 obsolete peroxisomal disease with epilepsy skos:exactMatch Orphanet:225686 Peroxisomal disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016399 obsolete amino acid or protein metabolism disease with epilepsy skos:exactMatch Orphanet:225689 Amino acid or protein metabolism disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016400 obsolete metal transport or utilization disorder with epilepsy skos:exactMatch Orphanet:225692 Metal transport or utilization disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016401 obsolete energy metabolism disorder with epilepsy skos:exactMatch Orphanet:225696 Energy metabolism disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016402 obsolete mitochondrial disease with epilepsy skos:exactMatch Orphanet:225700 Mitochondrial disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016403 obsolete mitochondrial disease with peripheral neuropathy skos:exactMatch Orphanet:225703 Mitochondrial disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016404 obsolete metabolic neurotransmission anomaly with epilepsy skos:exactMatch Orphanet:225707 Metabolic neurotransmission anomaly with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016405 obsolete sterol metabolism disorder with epilepsy skos:exactMatch Orphanet:225710 Sterol metabolism disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016406 obsolete other metabolic disease with epilepsy skos:exactMatch Orphanet:225713 Other metabolic disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016409 obsolete primary congenital hypothyroidism skos:exactMatch Orphanet:226295 Primary congenital hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016428 obsolete multiple sclerosis variant skos:exactMatch Orphanet:228145 Multiple sclerosis variant semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016434 obsolete acquired dermis elastic tissue disorder skos:exactMatch Orphanet:228218 Acquired dermis elastic tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016435 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue skos:exactMatch Orphanet:228221 Acquired dermis elastic tissue disorder with decreased elastic tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016436 obsolete acquired dermis elastic tissue disorder with increased elastic tissue skos:exactMatch Orphanet:228224 Acquired dermis elastic tissue disorder with increased elastic tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016493 obsolete variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231413 Variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016494 obsolete regional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231416 Regional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016495 obsolete functional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231419 Functional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016507 obsolete rare surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231637 Rare surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016508 obsolete rare non surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231641 Rare non surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016517 obsolete rare genetic vascular disease skos:exactMatch Orphanet:233655 Rare genetic vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016518 obsolete isolated punctate palmoplantar keratoderma skos:exactMatch Orphanet:2338 Isolated punctate palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016524 obsolete congenital vascular bone syndrome skos:exactMatch Orphanet:235832 Congenital vascular bone syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016565 obsolete syndromic genetic obesity skos:exactMatch Orphanet:240371 Syndromic obesity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016578 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies skos:exactMatch Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016579 obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:exactMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016623 obsolete rare deficiency anemia skos:exactMatch Orphanet:248293 Rare deficiency anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016627 obsolete rare hemorrhagic disorder skos:exactMatch Orphanet:248308 Rare hemorrhagic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016628 obsolete hemorrhagic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248315 Rare hemorrhagic disorder due to a coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016629 obsolete hemorrhagic disorder due to a platelet anomaly skos:exactMatch Orphanet:248326 Rare hemorrhagic disorder due to a platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016631 obsolete hemorrhagic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248347 Rare hemorrhagic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016632 obsolete thrombotic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248358 Rare thrombotic disorder due to a coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016633 obsolete thrombotic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:248361 Rare thrombotic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016634 obsolete thrombotic disorder due to an acquired coagulation factors defect skos:exactMatch Orphanet:248365 Rare thrombotic disorder due to an acquired coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016635 obsolete thrombotic disorder due to a platelet anomaly skos:exactMatch Orphanet:248368 Rare thrombotic disorder due to a platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016636 obsolete thrombotic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:248401 Rare thrombotic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016637 obsolete thrombotic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248404 Rare thrombotic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016645 obsolete rare neoplastic disease skos:exactMatch Orphanet:250908 Rare neoplastic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016678 obsolete maternal disease-related embryofetopathy skos:exactMatch Orphanet:251535 Maternal disease-related embryofetopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016679 obsolete rare tumor of neuroepithelial tissue skos:exactMatch Orphanet:251558 Rare tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016701 obsolete oligoastrocytic tumor skos:exactMatch Orphanet:251651 Oligoastrocytic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016704 obsolete glial tumor of neuroepithelial tissue with unknown origin skos:exactMatch Orphanet:251668 Glial tumor of neuroepithelial tissue with unknown origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016708 obsolete embryonal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251852 Embryonal tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016721 obsolete pineal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251905 Pineal tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016726 obsolete neuronal tumor skos:exactMatch Orphanet:251924 Neuronal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016744 obsolete primary melanocytic tumor of central nervous system skos:exactMatch Orphanet:252028 Primary melanocytic tumor of central nervous system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016756 obsolete inherited nervous system cancer-predisposing syndrome skos:exactMatch Orphanet:252190 Inherited nervous system cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016767 obsolete cutaneous lichen planus skos:exactMatch Orphanet:254370 Rare cutaneous lichen planus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016768 obsolete rare mucosal lichen planus skos:exactMatch Orphanet:254373 Rare mucosal lichen planus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016788 obsolete genetic hyperferritinemia without iron overload skos:exactMatch Orphanet:254704 Genetic hyperferritinemia without iron overload semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016791 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies skos:exactMatch Orphanet:254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016792 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA skos:exactMatch Orphanet:254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:exactMatch Orphanet:254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016794 obsolete maternally-inherited mitochondrial myopathy skos:exactMatch Orphanet:254788 Mitochondrial DNA-related mitochondrial myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016799 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism skos:exactMatch Orphanet:254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016803 obsolete unspecified inborn mitochondrial disorder skos:exactMatch Orphanet:254837 Unspecified mitochondrial disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016805 obsolete isolated oxidative phosphorylation complex disorder skos:exactMatch Orphanet:254846 Isolated oxidative phosphorylation complex disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016998 obsolete complex chromosomal rearrangement skos:exactMatch Orphanet:263708 Complex chromosomal rearrangement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0016999 obsolete X chromosome number anomaly skos:exactMatch Orphanet:263714 X chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017000 obsolete X chromosome number anomaly with female phenotype skos:exactMatch Orphanet:263717 X chromosome number anomaly with female phenotype semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017001 obsolete X chromosome number anomaly with male phenotype skos:exactMatch Orphanet:263720 X chromosome number anomaly with male phenotype semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017002 obsolete polysomy of X chromosome skos:exactMatch Orphanet:263723 Polysomy of X chromosome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017005 obsolete Y chromosome number anomaly skos:exactMatch Orphanet:263746 Y chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017006 obsolete X and Y chromosomal anomaly skos:exactMatch Orphanet:263749 X and Y chromosomal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017011 obsolete uniparental disomy of chromosome X skos:exactMatch Orphanet:263793 Uniparental disomy of chromosome X semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017085 obsolete malformation of the neurenteric canal, spinal cord and column skos:exactMatch Orphanet:268843 Malformation of the neurenteric canal, spinal cord and column semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017090 obsolete midline cerebral malformation skos:exactMatch Orphanet:268926 Midline cerebral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017104 obsolete central nervous system cystic malformation skos:exactMatch Orphanet:269194 Central nervous system cystic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017114 obsolete global cerebellar malformation skos:exactMatch Orphanet:269224 Global cerebellar malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017118 obsolete syndrome with a cerebellar malformation as major feature skos:exactMatch Orphanet:269523 Syndrome with a cerebellar malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017120 obsolete other syndrome with a central nervous system malformation as major feature skos:exactMatch Orphanet:269531 Other syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017121 obsolete syndrome with a Dandy-Walker malformation as major feature skos:exactMatch Orphanet:269546 Syndrome with a Dandy-Walker malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017122 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature skos:exactMatch Orphanet:269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017127 obsolete inherited soft tissue tumor skos:exactMatch Orphanet:271832 Genetic soft tissue tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017128 obsolete inherited digestive tract tumor skos:exactMatch Orphanet:271835 Genetic digestive tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017129 obsolete inherited cardiac tumor skos:exactMatch Orphanet:271841 Genetic cardiac tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017130 obsolete genetic urogenital tumor skos:exactMatch Orphanet:271844 Genetic urogenital tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017131 obsolete hereditary cardiac anomaly skos:exactMatch Orphanet:271853 Genetic cardiac anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017141 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia skos:exactMatch Orphanet:275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017142 obsolete hemorrhagic disorder due to a qualitative platelet defect skos:exactMatch Orphanet:275736 Rare hemorrhagic disorder due to a qualitative platelet defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017143 obsolete genetic infertility skos:exactMatch Orphanet:275742 Genetic infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism skos:exactMatch Orphanet:275844 Pulmonary hypertension with unclear multifactorial mechanism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017159 obsolete syndrome with pulmonary hypertension as a major feature skos:exactMatch Orphanet:275853 Syndrome with pulmonary hypertension as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017166 obsolete rare tumor of salivary glands skos:exactMatch Orphanet:276142 Rare tumor of salivary glands semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017234 obsolete inherited prion disease skos:exactMatch Orphanet:280400 Inherited human prion disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017259 obsolete systemic diseases with anterior uveitis skos:exactMatch Orphanet:280926 Systemic diseases with anterior uveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017260 obsolete systemic diseases with posterior uveitis skos:exactMatch Orphanet:280930 Systemic diseases with posterior uveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017261 obsolete systemic diseases with panuveitis skos:exactMatch Orphanet:280933 Systemic diseases with panuveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017262 obsolete inherited non-syndromic ichthyosis skos:exactMatch Orphanet:281082 Inherited non-syndromic ichthyosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017270 obsolete autosomal ichthyosis syndrome skos:exactMatch Orphanet:281217 Autosomal ichthyosis syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017271 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities skos:exactMatch Orphanet:281222 Autosomal ichthyosis syndrome with prominent hair abnormalities semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017272 obsolete autosomal ichthyosis syndrome with prominent neurologics signs skos:exactMatch Orphanet:281238 Autosomal ichthyosis syndrome with prominent neurologic signs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017273 obsolete autosomal ichthyosis syndrome with fatal disease course skos:exactMatch Orphanet:281241 Autosomal ichthyosis syndrome with fatal disease course semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017302 obsolete qualitative or quantitative defects of troponin skos:exactMatch Orphanet:284786 Qualitative or quantitative defects of troponin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017311 obsolete rare disease with thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:285014 Rare disease with thoracic aortic aneurysm and aortic dissection semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017368 obsolete systemic disease with skin involvement skos:exactMatch Orphanet:290836 Systemic disease with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017369 obsolete autoinflammatory syndrome with immune deficiency skos:exactMatch Orphanet:290839 Autoinflammatory syndrome with immune deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement skos:exactMatch Orphanet:290842 Autoinflammatory syndrome with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017371 obsolete rare head and neck tumor skos:exactMatch Orphanet:290849 Rare head and neck tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria skos:exactMatch Orphanet:293355 Methylmalonic acidemia without homocystinuria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017414 obsolete rare nevus skos:exactMatch Orphanet:294057 Rare nevus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017420 obsolete intercalary limb defects skos:exactMatch Orphanet:294927 Intercalary limb defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017431 obsolete non-syndromic limb overgrowth skos:exactMatch Orphanet:294953 Non syndromic limb overgrowth semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017432 obsolete syndrome with limb reduction defects skos:exactMatch Orphanet:294955 Syndrome with limb reduction defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017633 obsolete rare intoxication due to medical products skos:exactMatch Orphanet:306640 Rare intoxication due to medical products semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017635 obsolete parkinsonian syndrome due to neurodegenerative disease skos:exactMatch Orphanet:306666 Rare parkinsonian syndrome due to neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017637 obsolete rare parkinsonian syndrome due to intoxication skos:exactMatch Orphanet:306679 Rare parkinsonian syndrome due to intoxication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017641 obsolete miscellaneous movement disorder due to neurodegenerative disease skos:exactMatch Orphanet:306695 Miscellaneous movement disorder due to neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017643 obsolete frontotemporal neurodegeneration with movement disorder skos:exactMatch Orphanet:306708 Frontotemporal neurodegeneration with movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017644 obsolete rare tremor disorder skos:exactMatch Orphanet:306712 Rare tremor disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017645 obsolete rare choreic movement disorder skos:exactMatch Orphanet:306715 Rare choreic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017646 obsolete neurodegenerative disease with chorea skos:exactMatch Orphanet:306719 Neurodegenerative disease with chorea semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017647 obsolete postinfectious autoimmune disease with chorea skos:exactMatch Orphanet:306727 Postinfectious autoimmune disease with chorea semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017650 obsolete rare myoclonus skos:exactMatch Orphanet:306747 Rare myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017651 obsolete primary myoclonus skos:exactMatch Orphanet:306750 Primary myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017652 obsolete rare disease with myoclonus as a major feature skos:exactMatch Orphanet:306753 Rare disease with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature skos:exactMatch Orphanet:306756 Epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017654 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature skos:exactMatch Orphanet:306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017656 obsolete motor stereotypies skos:exactMatch Orphanet:306765 Motor stereotypies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017657 obsolete rare paroxysmal movement disorder skos:exactMatch Orphanet:306768 Rare paroxysmal movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017660 obsolete rare genetic parkinsonian disorder skos:exactMatch Orphanet:307052 Rare genetic parkinsonian disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease skos:exactMatch Orphanet:307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017662 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease skos:exactMatch Orphanet:307058 Miscellaneous movement disorder due to genetic neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307061 Rare genetic tremor disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307064 Rare genetic myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017665 obsolete rare genetic disease with myoclonus as a major feature skos:exactMatch Orphanet:307067 Rare genetic disease with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017667 obsolete isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:307148 Isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017669 obsolete disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307711 Disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017670 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma skos:exactMatch Orphanet:307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017671 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017673 obsolete isolated focal palmoplantar keratoderma skos:exactMatch Orphanet:307846 Isolated focal palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017674 obsolete disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307871 Disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017678 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308023 Disease with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017679 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017680 obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017710 obsolete congenital systemic veins anomaly skos:exactMatch Orphanet:3091 Congenital systemic veins anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017717 obsolete metabolic disease due to other fatty acid oxidation disorder skos:exactMatch Orphanet:309133 Metabolic disease due to other fatty acid oxidation disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:exactMatch Orphanet:309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017742 obsolete disorder of O-xylosylglycan synthesis skos:exactMatch Orphanet:309450 Disorder of O-xylosylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017743 obsolete disorder of O-N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309458 Disorder of O-N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017744 obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017745 obsolete disorder of O-mannosylglycan synthesis skos:exactMatch Orphanet:309469 Disorder of O-mannosylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017760 obsolete disorder of other vitamins and cofactors metabolism and transport skos:exactMatch Orphanet:309833 Disorder of other vitamins and cofactors metabolism and transport semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017797 obsolete rare odontologic tumor skos:exactMatch Orphanet:314425 Rare odontogenic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017820 obsolete obsolete disease with Cushing syndrome as a major feature skos:exactMatch Orphanet:314749 Rare disease with adrenal Cushing syndrome as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch Orphanet:315350 Autoimmune disease with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017891 obsolete inherited renal cancer-predisposing syndrome skos:exactMatch Orphanet:319328 Inherited renal cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017897 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency skos:exactMatch Orphanet:319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017898 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017899 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017912 obsolete X-linked pure spastic paraplegia skos:exactMatch Orphanet:320332 X-linked pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017914 obsolete pure or complex autosomal dominant spastic paraplegia skos:exactMatch Orphanet:320342 Pure or complex autosomal dominant spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017915 obsolete pure or complex autosomal recessive spastic paraplegia skos:exactMatch Orphanet:320346 Pure or complex autosomal recessive spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017916 obsolete pure or complex X-linked spastic paraplegia skos:exactMatch Orphanet:320350 Pure or complex X-linked spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017954 obsolete pyogenic autoinflammatory syndrome skos:exactMatch Orphanet:324927 Pyogenic autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017955 obsolete granulomatous autoinflammatory syndrome skos:exactMatch Orphanet:324930 Granulomatous autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017956 obsolete mixed autoinflammatory and autoimmune syndrome skos:exactMatch Orphanet:324933 Mixed autoinflammatory and autoimmune syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017957 obsolete unclassified autoinflammatory syndrome skos:exactMatch Orphanet:324936 Unclassified autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017961 obsolete 46,XX disorder of gonadal development skos:exactMatch Orphanet:325055 46,XX disorder of gonadal development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess skos:exactMatch Orphanet:325061 46,XX difference of sex development induced by fetoplacental androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017963 obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen skos:exactMatch Orphanet:325093 46,XX difference of sex development induced by endogenous maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017964 obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen skos:exactMatch Orphanet:325099 46,XX difference of sex development induced by exogenous maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017965 obsolete syndrome with 46,XX disorder of sex development skos:exactMatch Orphanet:325109 Syndrome with 46,XX difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017966 obsolete 46,XY disorder of gonadal development skos:exactMatch Orphanet:325118 46,XY disorder of gonadal development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017969 obsolete 46,XY disorder of sex development of endocrine origin skos:exactMatch Orphanet:325351 46,XY difference of sex development of endocrine origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017976 obsolete disorder of sex development of gynecological interest skos:exactMatch Orphanet:325620 Difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest skos:exactMatch Orphanet:325632 46,XY difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest skos:exactMatch Orphanet:325638 Syndrome with difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018033 obsolete other immunodeficiency syndromes due to defects in innate immunity skos:exactMatch Orphanet:331193 Other immunodeficiency syndromes due to defects in innate immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018035 obsolete syndrome with combined immunodeficiency skos:exactMatch Orphanet:331217 Syndrome with combined immunodeficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018038 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells skos:exactMatch Orphanet:331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018041 obsolete other immunodeficiency syndrome with predominantly antibody defects skos:exactMatch Orphanet:331244 Other immunodeficiency syndrome with predominantly antibody defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018118 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement skos:exactMatch Orphanet:352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018119 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement skos:exactMatch Orphanet:352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018120 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement skos:exactMatch Orphanet:352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018157 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis skos:exactMatch Orphanet:35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018185 obsolete congenital anomaly of the great veins skos:exactMatch Orphanet:363189 Congenital anomaly of the great veins semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018187 obsolete hereditary syndromic Pierre Robin syndrome skos:exactMatch Orphanet:363294 Genetic syndromic Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018188 obsolete hereditary intestinal polyposis skos:exactMatch Orphanet:363314 Genetic intestinal polyposis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018191 obsolete tumor of testis and paratestis skos:exactMatch Orphanet:363472 Tumor of testis and paratestis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018200 obsolete acute encephalopathy with inflammation-mediated status epilepticus skos:exactMatch Orphanet:363567 Acute encephalopathy with inflammation-mediated status epilepticus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018231 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments skos:exactMatch Orphanet:364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018232 obsolete primary bone dysplasia with micromelia skos:exactMatch Orphanet:364536 Primary bone dysplasia with micromelia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature skos:exactMatch Orphanet:364568 Dysostosis with limb anomaly as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature skos:exactMatch Orphanet:364571 Dysostosis with limb and face anomalies as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018239 obsolete aggrecan-related bone disorder skos:exactMatch Orphanet:364817 Aggrecan-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018246 obsolete homozygous 2p21 microdeletion syndrome skos:exactMatch Orphanet:369886 Homozygous 2p21 microdeletion syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018262 obsolete fetal anticonvulsant syndrome skos:exactMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation skos:exactMatch Orphanet:370106 Rare disorder with dystonia and other neurologic or systemic manifestation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018283 obsolete primary qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch Orphanet:371040 Primary qualitative or quantitative defects of alpha-dystroglycan semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018284 obsolete congenital disorder of glycosylation with neurological involvement skos:exactMatch Orphanet:371047 Congenital disorder of glycosylation with neurological involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018287 obsolete congenital disorder of glycosylation with epilepsy as a major feature skos:exactMatch Orphanet:371071 Congenital disorder of glycosylation with epilepsy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018288 obsolete congenital disorder of glycosylation with hepatic involvement skos:exactMatch Orphanet:371157 Congenital disorder of glycosylation with hepatic involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018290 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature skos:exactMatch Orphanet:371183 Congenital disorder of glycosylation with cardiac malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018291 obsolete congenital disorder of glycosylation with intestinal involvement skos:exactMatch Orphanet:371188 Congenital disorder of glycosylation with intestinal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018292 obsolete congenital disorder of glycosylation-related bone disorder skos:exactMatch Orphanet:371195 Congenital disorder of glycosylation-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018293 obsolete congenital disorder of glycosylation with skin involvement skos:exactMatch Orphanet:371200 Congenital disorder of glycosylation with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018294 obsolete congenital disorder of glycosylation with nephropathy as a major feature skos:exactMatch Orphanet:371207 Congenital disorder of glycosylation with nephropathy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018295 obsolete congenital disorder of glycosylation with deafness as a major feature skos:exactMatch Orphanet:371212 Congenital disorder of glycosylation with deafness as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018296 obsolete congenital disorder of glycosylation with developmental anomaly skos:exactMatch Orphanet:371235 Congenital disorder of glycosylation with developmental anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018299 obsolete sphingolipidosis with epilepsy skos:exactMatch Orphanet:371442 Sphingolipidosis with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018318 obsolete disorder of asparagine metabolism skos:exactMatch Orphanet:391381 Disorder of asparagine metabolism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018329 obsolete persistent combined dystonia skos:exactMatch Orphanet:391711 Persistent combined dystonia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018368 primary peritoneal serous/papillary carcinoma skos:exactMatch Orphanet:398980 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018377 obsolete rare hereditary disease with avascular necrosis skos:exactMatch Orphanet:399185 Rare hereditary disease with avascular necrosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018384 obsolete avascular necrosis of genetic origin skos:exactMatch Orphanet:399388 Avascular necrosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018385 obsolete osteochondrosis of genetic origin skos:exactMatch Orphanet:399391 Osteochondrosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018386 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018387 obsolete rare male infertility due to adrenal disorder skos:exactMatch Orphanet:399584 Rare male infertility due to adrenal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018388 obsolete rare male infertility due to testicular endocrine disorder skos:exactMatch Orphanet:399685 Rare male infertility due to testicular endocrine disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018389 obsolete male infertility due to gonadal dysgenesis or sperm disorder skos:exactMatch Orphanet:399764 Male infertility due to gonadal dysgenesis or sperm disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018390 obsolete male infertility due to sperm disorder skos:exactMatch Orphanet:399771 Male infertility due to sperm disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018391 obsolete male infertility with spermatogenesis disorder skos:exactMatch Orphanet:399775 Male infertility with spermatogenesis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018392 obsolete male infertility with spermatogenesis disorder due to single gene mutation skos:exactMatch Orphanet:399786 Male infertility with spermatogenesis disorder due to single gene mutation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018395 obsolete male infertility due to sperm motility disorder skos:exactMatch Orphanet:399813 Male infertility due to sperm motility disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018396 obsolete rare male fertility disorder with obstructive azoospermia skos:exactMatch Orphanet:399824 Rare disorder with obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018397 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018398 obsolete female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018400 obsolete rare female infertility due to an adrenal disorder skos:exactMatch Orphanet:399849 Rare female infertility due to an adrenal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018401 obsolete female infertility due to an anomaly of ovarian function skos:exactMatch Orphanet:399853 Rare female infertility due to an anomaly of ovarian function semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018402 obsolete female infertility due to gonadal dysgenesis skos:exactMatch Orphanet:399877 Rare female infertility due to gonadal dysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018403 obsolete female infertility due to an implantation defect skos:exactMatch Orphanet:399882 Rare female infertility due to an implantation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018404 obsolete rare genetic male infertility skos:exactMatch Orphanet:399980 Rare genetic male infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018405 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018406 obsolete rare male infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:399994 Rare male infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018407 obsolete male infertility due to obstructive azoospermia of genetic origin skos:exactMatch Orphanet:399998 Male infertility due to obstructive azoospermia of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018409 obsolete rare genetic disorder with obstructive azoospermia skos:exactMatch Orphanet:400003 Rare genetic disorder with obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018410 obsolete rare genetic female infertility skos:exactMatch Orphanet:400008 Rare genetic female infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018411 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018412 obsolete rare female infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:400018 Rare female infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018413 obsolete female infertility due to an anomaly of ovarian function of genetic origin skos:exactMatch Orphanet:400022 Rare female infertility due to an anomaly of ovarian function of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018414 obsolete female infertility due to an implantation defect of genetic origin skos:exactMatch Orphanet:400025 Female infertility due to an implantation defect of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018444 obsolete female infertility due to fertilization defect skos:exactMatch Orphanet:404469 Rare female infertility due to oocyte maturation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018451 obsolete X-linked distal hereditary motor neuropathy skos:exactMatch Orphanet:404538 X-linked distal hereditary motor neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018454 obsolete dysostosis of genetic origin skos:exactMatch Orphanet:404568 Dysostosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018455 obsolete dysostosis of genetic origin with limb anomaly as a major feature skos:exactMatch Orphanet:404571 Dysostosis of genetic origin with limb anomaly as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018457 obsolete rare genetic bone development disorder skos:exactMatch Orphanet:404584 Rare genetic bone development disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018488 obsolete rare genetic odontal or periodontal disorder skos:exactMatch Orphanet:420755 Rare genetic odontal or periodontal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum skos:exactMatch Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018497 obsolete rare autonomic nervous system disorder skos:exactMatch Orphanet:423662 Rare autonomic nervous system disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018501 obsolete rare carcinoma of stomach skos:exactMatch Orphanet:423771 Rare carcinoma of stomach semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018520 obsolete rare epithelial tumor of pancreas skos:exactMatch Orphanet:424033 Rare epithelial tumor of pancreas semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018529 obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 skos:exactMatch Orphanet:424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018538 obsolete inherited digestive cancer-predisposing syndrome skos:exactMatch Orphanet:425003 Inherited digestive cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018545 obsolete primary immunodeficiency with predisposition to severe viral infection skos:exactMatch Orphanet:431156 Primary immunodeficiency with predisposition to severe viral infection semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018549 obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies skos:exactMatch Orphanet:431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder skos:exactMatch Orphanet:431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018557 obsolete rare genetic autonomic nervous system disorder skos:exactMatch Orphanet:434786 Rare genetic autonomic nervous system disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018558 obsolete syndrome with wooly hair skos:exactMatch Orphanet:434809 Syndrome with woolly hair semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018562 obsolete hereditary otorhinolaryngological malformation skos:exactMatch Orphanet:435603 Genetic otorhinolaryngological malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018579 obsolete disorder of ketone body transport skos:exactMatch Orphanet:438072 Disorder of keton body transport semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018609 obsolete syndromic hereditary optic neuropathy skos:exactMatch Orphanet:441434 Syndromic hereditary optic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018652 obsolete biological anomaly without phenotypic characterization skos:exactMatch Orphanet:447874 Biological anomaly without phenotypic characterization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018701 obsolete congenital nemaline myopathy skos:exactMatch Orphanet:457074 Congenital nemaline myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018718 obsolete vascular tumor with associated anomalies skos:exactMatch Orphanet:458827 Vascular tumor with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies skos:exactMatch Orphanet:458830 Rare capillary malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018720 obsolete common cystic lymphatic malformation skos:exactMatch Orphanet:458833 Common cystic lymphatic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018721 obsolete rare combined vascular malformation skos:exactMatch Orphanet:458837 Rare combined vascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018723 obsolete rare vascular malformation of major vessels skos:exactMatch Orphanet:458844 Rare vascular malformation of major vessels semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018727 obsolete immunodeficiency due to a complement regulatory deficiency skos:exactMatch Orphanet:459348 Immunodeficiency due to a complement regulatory deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018728 obsolete rare genetic capillary malformation skos:exactMatch Orphanet:459526 Rare genetic capillary malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018729 obsolete genetic vascular tumor skos:exactMatch Orphanet:459543 Rare genetic vascular tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018730 obsolete rare genetic venous malformation skos:exactMatch Orphanet:459548 Rare genetic venous malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018731 obsolete lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:459787 Lethal multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018743 obsolete immune-mediated acquired neuromuscular junction disease skos:exactMatch Orphanet:464764 Immune-mediated acquired neuromuscular junction disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018753 obsolete rare disease with malignant hyperthermia skos:exactMatch Orphanet:466658 Rare disease with malignant hyperthermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018771 obsolete congenital anomaly of ventricular septum skos:exactMatch Orphanet:474347 Rare congenital anomaly of ventricular septum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy skos:exactMatch Orphanet:476109 Axonal hereditary motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018779 obsolete hypercontractile muscle stiffness syndrome skos:exactMatch Orphanet:476403 Hypercontractile muscle stiffness syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018787 obsolete genetic cerebral small vessel disease skos:exactMatch Orphanet:477754 Genetic cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018788 obsolete COL4A1 or COL4A2-related cerebral small vessel disease skos:exactMatch Orphanet:477759 COL4A1 or COL4A2-related cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency skos:exactMatch Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018790 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency skos:exactMatch Orphanet:477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018791 obsolete Moyomoya angiopathy skos:exactMatch Orphanet:477768 Moyamoya angiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018792 obsolete Moyamoya syndrome skos:exactMatch Orphanet:477771 Rare disorder with a moyamoya angiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018796 obsolete isolated constitutional thrombocytopenia skos:exactMatch Orphanet:477797 Isolated constitutional thrombocytopenia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018797 obsolete genetic cardiac malformation skos:exactMatch Orphanet:477805 Genetic cardiac malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018798 obsolete other genetic dermis disorder skos:exactMatch Orphanet:477808 Other genetic dermis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018799 obsolete rare hypercholesterolemia skos:exactMatch Orphanet:477811 Rare hypercholesterolemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease skos:exactMatch Orphanet:482072 HTRA1-related cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018833 obsolete rare idiopathic macular telangiectasia skos:exactMatch Orphanet:482092 Rare idiopathic macular telangiectasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018880 obsolete rare teratologic disease skos:exactMatch Orphanet:52662 Rare teratologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018928 obsolete rare hepatic disease skos:exactMatch Orphanet:57146 Rare hepatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0018972 obsolete rare epithelial tumor of stomach skos:exactMatch Orphanet:63443 Rare epithelial tumor of stomach semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019038 obsolete rare maxillo-facial surgical disease skos:exactMatch Orphanet:68329 Rare maxillo-facial surgical disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019039 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019041 obsolete rare genetic inherited tumor skos:exactMatch Orphanet:68336 Rare genetic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019043 obsolete rare genetic skin disease skos:exactMatch Orphanet:68346 Rare genetic skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019044 obsolete tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:68347 Tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019047 obsolete rare deafness skos:exactMatch Orphanet:68361 Rare deafness semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019048 obsolete rare vascular disease skos:exactMatch Orphanet:68362 Rare vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019049 obsolete rare dystonia skos:exactMatch Orphanet:68363 Rare dystonia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019058 obsolete neurometabolic disease skos:exactMatch Orphanet:68385 Neurometabolic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019059 obsolete rare parkinsonian disorder skos:exactMatch Orphanet:68402 Rare parkinsonian disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019061 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly skos:exactMatch Orphanet:68415 Rare parathyroid disease and phosphocalcic metabolism anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019062 obsolete rare infectious disease skos:exactMatch Orphanet:68416 Rare infectious disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019063 obsolete vascular anomaly skos:exactMatch Orphanet:68419 Vascular anomaly or angioma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019066 obsolete syndrome with brachydactyly skos:exactMatch Orphanet:69028 Dysostosis with brachydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019096 obsolete rare pulmonary hypertension skos:exactMatch Orphanet:71198 Rare pulmonary hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019099 obsolete rare soft tissue tumor skos:exactMatch Orphanet:71209 Rare soft tissue tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019110 obsolete rare central nervous system or retinal vascular disease skos:exactMatch Orphanet:71281 Rare central nervous system and retinal vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019117 obsolete genetic nervous system disorder skos:exactMatch Orphanet:71859 Rare genetic neurological disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019183 obsolete inherited odontologic disease skos:exactMatch Orphanet:77830 Rare genetic odontologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019252 obsolete other metabolic disease with skin involvement skos:exactMatch Orphanet:79217 Other metabolic disease with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019271 obsolete acrokeratoderma skos:exactMatch Orphanet:79356 Acrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019274 obsolete other epidermal disorder skos:exactMatch Orphanet:79359 Other epidermal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019275 obsolete other genetic epidermal disease skos:exactMatch Orphanet:79360 Other genetic epidermal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019277 obsolete epidermal appendage anomaly skos:exactMatch Orphanet:79362 Epidermal appendage anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019281 obsolete isolated genetic hair shaft abnormality skos:exactMatch Orphanet:79366 Isolated hair shaft abnormality semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019282 obsolete syndromic hair shaft abnormality skos:exactMatch Orphanet:79367 Syndromic hair shaft abnormality semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019285 obsolete syndromic nail anomaly skos:exactMatch Orphanet:79370 Syndromic nail anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019286 obsolete sebaceous gland anomaly skos:exactMatch Orphanet:79372 Sebaceous gland anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019292 obsolete dermis elastic tissue disorder skos:exactMatch Orphanet:79378 Dermis elastic tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019298 obsolete rare urticaria skos:exactMatch Orphanet:79384 Rare urticaria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019299 obsolete unclassified genetic skin disorder skos:exactMatch Orphanet:79385 Unclassified genetic skin disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019300 obsolete rare skin tumor or hamartoma skos:exactMatch Orphanet:79386 Rare skin tumor or hamartoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019301 obsolete metabolic disease with skin involvement skos:exactMatch Orphanet:79387 Metabolic disease with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019304 obsolete rare photodermatosis skos:exactMatch Orphanet:79390 Rare photodermatosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019305 obsolete immune deficiency with skin involvement skos:exactMatch Orphanet:79391 Immune deficiency with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019491 obsolete rare intellectual disability skos:exactMatch Orphanet:87277 Rare intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019513 obsolete esophageal malformation skos:exactMatch Orphanet:88993 Esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019515 obsolete rare dementia skos:exactMatch Orphanet:89043 Rare dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019519 obsolete rare skin disease skos:exactMatch Orphanet:89826 Rare skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019546 obsolete other acquired skin disease skos:exactMatch Orphanet:90077 Other acquired skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019590 obsolete rare endocrine growth disease skos:exactMatch Orphanet:90692 Rare endocrine growth disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess skos:exactMatch Orphanet:90776 46,XX difference of sex development induced by fetal androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019599 obsolete primary lipodystrophy skos:exactMatch Orphanet:90970 Primary lipodystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019602 obsolete other inborn metabolic disease skos:exactMatch Orphanet:91088 Other metabolic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019608 obsolete 46,XX disorder of sex development induced by maternal-derived androgen skos:exactMatch Orphanet:91144 46,XX difference of sex development induced by maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019619 obsolete duplication of the esophagus skos:exactMatch Orphanet:91357 Duplication of the esophagus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019684 obsolete rare bone disease skos:exactMatch Orphanet:93419 Rare bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019688 obsolete sulfation-related bone disorder skos:exactMatch Orphanet:93423 Sulfation-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019689 obsolete perlecan-related bone disorder skos:exactMatch Orphanet:93424 Perlecan-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019692 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia skos:exactMatch Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019704 obsolete primary bone dysplasia with decreased bone density skos:exactMatch Orphanet:93446 Primary bone dysplasia with decreased bone density semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019705 obsolete primary bone dysplasia with defective bone mineralization skos:exactMatch Orphanet:93447 Primary bone dysplasia with defective bone mineralization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019709 obsolete cleidocranial dysplasia and isolated cranial ossification defect skos:exactMatch Orphanet:93451 Cleidocranial dysplasia and isolated cranial ossification defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019712 obsolete patellar dysostosis skos:exactMatch Orphanet:93455 Patellar dysostosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy skos:exactMatch Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019717 obsolete chromosomal disease with overgrowth skos:exactMatch Orphanet:93461 Chromosomal disease with overgrowth semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019743 obsolete nephropathy secondary to a storage or other metabolic disease skos:exactMatch Orphanet:93593 Nephropathy secondary to a storage or other metabolic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019744 obsolete rare renal tubular disease skos:exactMatch Orphanet:93603 Rare renal tubular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019747 obsolete hematological disorder with renal involvement skos:exactMatch Orphanet:93614 Hematological disorder with renal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019748 obsolete rare cause of hypertension skos:exactMatch Orphanet:93618 Rare cause of hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019749 obsolete rare renal tumor skos:exactMatch Orphanet:93619 Rare renal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019750 obsolete rare renal disease skos:exactMatch Orphanet:93626 Rare renal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019800 obsolete chronic hepatic porphyria skos:exactMatch Orphanet:95161 Chronic hepatic porphyria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019822 obsolete arterial duct anomaly skos:exactMatch Orphanet:95485 Arterial duct anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019827 obsolete disease associated with non-acquired combined pituitary hormone deficiency skos:exactMatch Orphanet:95495 Disease associated with non-acquired combined pituitary hormone deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019833 obsolete pituitary hormone deficiency from tumoral origin skos:exactMatch Orphanet:95503 Pituitary hormone deficiency of tumoral origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019834 obsolete pituitary hormone deficiency from meningeal origin skos:exactMatch Orphanet:95505 Pituitary hormone deficiency of meningeal origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019841 obsolete pituitary hormone defiency from vascular origin skos:exactMatch Orphanet:95611 Pituitary hormone deficiency of vascular origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019843 obsolete pituitary hormone deficiency secondary to a granulomatous disease skos:exactMatch Orphanet:95617 Pituitary hormone deficiency secondary to a granulomatous disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019844 obsolete pituitary hormone deficiency secondary to storage disease skos:exactMatch Orphanet:95618 Pituitary hormone deficiency secondary to storage disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019856 obsolete primary congenital hypothyroidism without thyroid developmental anomaly skos:exactMatch Orphanet:95714 Primary congenital hypothyroidism without thyroid developmental anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019859 obsolete congenital thyroid malformation without hypothyroidism skos:exactMatch Orphanet:95718 Congenital thyroid malformation without hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019936 obsolete rare otorhinolaryngological malformation skos:exactMatch Orphanet:96333 Rare otorhinolaryngological malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019937 obsolete rare gynecologic or obstetric disease skos:exactMatch Orphanet:96344 Rare gynecologic or obstetric disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019965 obsolete rare benign ovarian tumor skos:exactMatch Orphanet:97293 Rare benign ovarian tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019996 obsolete rare cardiac disease skos:exactMatch Orphanet:97929 Rare cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019997 obsolete rare gastroenterologic disease skos:exactMatch Orphanet:97935 Rare gastroenterologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0019998 obsolete gastroduodenal malformation skos:exactMatch Orphanet:97944 Gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020000 obsolete rare respiratory disease skos:exactMatch Orphanet:97955 Rare respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020002 obsolete rare surgical thoracic disease skos:exactMatch Orphanet:97962 Rare surgical thoracic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020003 obsolete rare surgical cardiac disease skos:exactMatch Orphanet:97965 Rare surgical cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020004 obsolete rare eye disease skos:exactMatch Orphanet:97966 Rare ophthalmic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020005 obsolete rare endocrine disease skos:exactMatch Orphanet:97978 Rare endocrine disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020008 obsolete rare immune disease skos:exactMatch Orphanet:98004 Rare immune disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020009 obsolete rare neurologic disease skos:exactMatch Orphanet:98006 Rare neurologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020011 obsolete rare headache disorder skos:exactMatch Orphanet:98022 Rare headache semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020013 obsolete rare odontologic disease skos:exactMatch Orphanet:98026 Rare odontologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020014 obsolete rare disease with odontological manifestation skos:exactMatch Orphanet:98027 Rare disease with odontological manifestation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020015 obsolete rare circulatory system disease skos:exactMatch Orphanet:98028 Rare circulatory system disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020016 obsolete rare neurologic disease with psychiatric involvement skos:exactMatch Orphanet:98033 Rare neurologic disease with psychiatric involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020017 obsolete rare otorhinolaryngologic disease skos:exactMatch Orphanet:98036 Rare otorhinolaryngologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020018 obsolete cranial malformation skos:exactMatch Orphanet:98038 Cranial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020019 obsolete digestive tract malformation skos:exactMatch Orphanet:98039 Digestive tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020020 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:98043 Diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020023 obsolete respiratory or mediastinal malformation skos:exactMatch Orphanet:98045 Respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020024 obsolete rare infertility skos:exactMatch Orphanet:98047 Rare infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020025 obsolete rare male infertility skos:exactMatch Orphanet:98048 Rare male infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020026 obsolete rare female infertility skos:exactMatch Orphanet:98049 Rare female infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020027 obsolete rare allergic disease skos:exactMatch Orphanet:98050 Rare allergic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020028 obsolete rare allergic respiratory disease skos:exactMatch Orphanet:98052 Rare allergic respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020029 obsolete rare genetic cardiac disease skos:exactMatch Orphanet:98054 Rare genetic cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020030 obsolete rare genetic renal disease skos:exactMatch Orphanet:98056 Rare genetic renal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020032 obsolete rare urinary tract tumor skos:exactMatch Orphanet:98058 Rare urinary tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020033 obsolete rare digestive tumor skos:exactMatch Orphanet:98059 Rare digestive tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020034 obsolete rare respiratory tract neoplasm skos:exactMatch Orphanet:98060 Rare respiratory tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020035 obsolete rare otorhinolaryngologic tumor skos:exactMatch Orphanet:98061 Rare otorhinolaryngologic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020036 obsolete rare nervous system tumor skos:exactMatch Orphanet:98062 Rare nervous system tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020037 obsolete rare gynecological tumor skos:exactMatch Orphanet:98063 Rare gynecological tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest skos:exactMatch Orphanet:98074 Gonadal dysgenesis of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess skos:exactMatch Orphanet:98078 46,XX difference of sex development induced by androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development skos:exactMatch Orphanet:98087 Syndrome with 46,XY difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020051 obsolete total autosomal trisomy skos:exactMatch Orphanet:98131 Total autosomal trisomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020052 obsolete partial autosomal trisomy/tetrasomy skos:exactMatch Orphanet:98132 Partial autosomal duplication/triplication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020053 obsolete total autosomal monosomy skos:exactMatch Orphanet:98141 Total autosomal monosomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020055 obsolete autosomal uniparental disomy skos:exactMatch Orphanet:98152 Autosomal uniparental disomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020059 obsolete gonosome number anomaly skos:exactMatch Orphanet:98156 Sex-chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020060 obsolete gonosome structural anomaly skos:exactMatch Orphanet:98157 Sex-chromosome structural anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020062 obsolete chromosome X structural anomaly skos:exactMatch Orphanet:98159 Chromosome X structural anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020063 obsolete malformation syndrome with hamartosis skos:exactMatch Orphanet:98196 Malformation syndrome with hamartosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020069 obsolete chronic encephalitis skos:exactMatch Orphanet:98255 Chronic encephalitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020090 obsolete male infertility due to gonadal dysgenesis skos:exactMatch Orphanet:98313 Male infertility due to gonadal dysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020091 obsolete male infertility due to obstructive azoospermia skos:exactMatch Orphanet:98343 Male infertility due to obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020093 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98349 Autosomal dominant isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020094 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020095 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020096 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98356 Autosomal recessive isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020097 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020098 obsolete constitutional anemia due to iron metabolism disorder skos:exactMatch Orphanet:98360 Constitutional anemia due to iron metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020100 obsolete rare hemolytic anemia skos:exactMatch Orphanet:98363 Rare hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect skos:exactMatch Orphanet:98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020104 obsolete rare constitutional hemolytic anemia due to an enzyme disorder skos:exactMatch Orphanet:98369 Rare constitutional hemolytic anemia due to an enzyme disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020105 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies skos:exactMatch Orphanet:98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020109 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder skos:exactMatch Orphanet:98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020111 obsolete constitutional megaloblastic anemia due to folate metabolism disorder skos:exactMatch Orphanet:98408 Constitutional megaloblastic anemia due to folate metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020116 obsolete rare blood coagulation disease skos:exactMatch Orphanet:98429 Rare coagulation disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020125 obsolete acquired neuromuscular junction disease skos:exactMatch Orphanet:98494 Acquired neuromuscular junction disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020126 obsolete rare peripheral neuropathy skos:exactMatch Orphanet:98496 Rare peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020130 obsolete malformation of the cerebellar vermis skos:exactMatch Orphanet:98514 Malformation of the cerebellar vermis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020131 obsolete malformation of the cerebellar hemispheres skos:exactMatch Orphanet:98516 Malformation of the cerebellar hemispheres semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020132 obsolete cranial nerve and nuclear aplasia skos:exactMatch Orphanet:98518 Cranial nerve and nuclear aplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020133 obsolete posterior fossa malformation skos:exactMatch Orphanet:98519 Posterior fossa malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020136 obsolete neurodegenerative disease with dementia skos:exactMatch Orphanet:98534 Neurodegenerative disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020137 obsolete frontotemporal degeneration with dementia skos:exactMatch Orphanet:98535 Frontotemporal degeneration with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020138 obsolete ataxia with dementia skos:exactMatch Orphanet:98538 Ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020139 obsolete early-onset ataxia with dementia skos:exactMatch Orphanet:98539 Early-onset ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020140 obsolete late-onset ataxia with dementia skos:exactMatch Orphanet:98540 Late-onset ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020141 obsolete infectious disease with dementia skos:exactMatch Orphanet:98542 Infectious disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020142 obsolete metabolic disease with dementia skos:exactMatch Orphanet:98543 Metabolic disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020144 obsolete cerebrovascular dementia skos:exactMatch Orphanet:98549 Rare cerebrovascular dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020148 obsolete syndromic aniridia skos:exactMatch Orphanet:98557 Syndromic aniridia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020151 obsolete rare palpebral disease skos:exactMatch Orphanet:98560 Rare palpebral disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020152 obsolete rare eyelid malformation skos:exactMatch Orphanet:98561 Congenital malformation of the eyelid semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020154 obsolete microblepharon-ablephara syndrome skos:exactMatch Orphanet:98563 Microblepharon-ablephara syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020155 obsolete eyelid border anomaly skos:exactMatch Orphanet:98564 Eyelid border anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020156 obsolete syndromic ankyloblepharon skos:exactMatch Orphanet:98565 Syndromic ankyloblepharon filiforme adnatum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020157 obsolete syndromic palpebral coloboma skos:exactMatch Orphanet:98566 Syndromic eyelid coloboma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020158 obsolete eyelids malposition disorder skos:exactMatch Orphanet:98567 Rare eyelid malposition disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020162 obsolete secondary ectropion skos:exactMatch Orphanet:98571 Secondary ectropion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020165 obsolete syndromic epicanthus skos:exactMatch Orphanet:98574 Syndromic epicanthus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020167 obsolete malposition of external canthus skos:exactMatch Orphanet:98576 Syndromic outer canthal malposition semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020184 obsolete rare eyebrow/eyelashes anomaly skos:exactMatch Orphanet:98594 Rare eyebrow/eyelash disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020192 obsolete rare lacrimal system disease skos:exactMatch Orphanet:98602 Rare disorder of the lacrimal apparatus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020195 obsolete excretory apparatus of the lacrimal system anomaly skos:exactMatch Orphanet:98605 Lacrimal drainage system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020197 obsolete EEC syndrome and related syndrome skos:exactMatch Orphanet:98609 EEC syndrome and related disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020198 obsolete rare conjunctival disease skos:exactMatch Orphanet:98610 Rare disorder with conjunctival involvement as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020206 obsolete rare refraction anomaly skos:exactMatch Orphanet:98618 Rare refraction anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020209 obsolete rare hyperopia and astigmatism skos:exactMatch Orphanet:98621 Rare hyperopia and astigmatism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020210 obsolete syndromic hyperopia skos:exactMatch Orphanet:98622 Syndromic hyperopia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020211 obsolete syndromic keratoconus skos:exactMatch Orphanet:98623 Syndromic keratoconus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020216 obsolete secondary dysgenetic glaucoma skos:exactMatch Orphanet:98631 Congenital malformation of the eye with glaucoma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020219 obsolete corneogoniodysgenesis skos:exactMatch Orphanet:98635 Corneodysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020222 obsolete rare disease with glaucoma as a major feature skos:exactMatch Orphanet:98638 Rare disease with glaucoma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020223 obsolete lens and zonula anomaly skos:exactMatch Orphanet:98639 Rare lens disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020224 obsolete rare cataract skos:exactMatch Orphanet:98640 Rare disorder with lens opacification semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020225 obsolete syndromic cataract skos:exactMatch Orphanet:98641 Syndromic cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020226 obsolete chromosomal anomaly with cataract skos:exactMatch Orphanet:98642 Chromosomal anomaly with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020228 obsolete cataract associated with a metabolic disease skos:exactMatch Orphanet:98644 Metabolic disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020230 obsolete renal disease with cataract skos:exactMatch Orphanet:98646 Renal disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020232 obsolete musculoskeletal disease with cataract skos:exactMatch Orphanet:98648 Musculoskeletal disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020233 obsolete dentocutaneous disease with cataract skos:exactMatch Orphanet:98649 Dentocutaneous disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020234 obsolete craniofacial anomaly with cataract skos:exactMatch Orphanet:98650 Craniofacial anomaly with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020235 obsolete lens size anomaly skos:exactMatch Orphanet:98652 Lens size anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020236 obsolete lens position anomaly skos:exactMatch Orphanet:98653 Lens position anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020237 obsolete lens shape anomaly skos:exactMatch Orphanet:98655 Lens shape anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020240 obsolete syndromic retinitis pigmentosa skos:exactMatch Orphanet:98661 Syndromic rod-cone dystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020251 obsolete rare strabismus and restriction syndrome skos:exactMatch Orphanet:98681 Rare disorder with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020253 obsolete syndrome with a symptomatic strabismus skos:exactMatch Orphanet:98683 Syndromic disorder with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020254 obsolete craniostenosis associated with a strabismus skos:exactMatch Orphanet:98684 Craniostenosis with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020284 obsolete heart position anomaly skos:exactMatch Orphanet:98716 Heart position anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020285 obsolete transposition of the great arteries and conotruncal cardiac anomaly skos:exactMatch Orphanet:98717 Transposition of the great arteries and conotruncal cardiac anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020286 obsolete aortic malformation skos:exactMatch Orphanet:98718 Aortic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020287 obsolete pulmonary artery or pulmonary branch anomaly skos:exactMatch Orphanet:98719 Pulmonary artery or pulmonary branch anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020288 obsolete atrioventricular valve anomaly skos:exactMatch Orphanet:98720 Atrioventricular valve anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020293 obsolete ascending aorta anomaly skos:exactMatch Orphanet:98725 Ascending aorta anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020294 obsolete atrial defect and interatrial communication skos:exactMatch Orphanet:98727 Rare atrial defect and interatrial communication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020339 obsolete X-linked complex spastic paraplegia skos:exactMatch Orphanet:98888 X-linked complex spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020343 obsolete alpha-crystallinopathy skos:exactMatch Orphanet:98910 Alpha-crystallinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency skos:exactMatch Orphanet:101960 Genetic chronic primary adrenal insufficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0021027 obsolete genetic hair anomaly skos:exactMatch Orphanet:183450 Genetic hair anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0021028 obsolete genetic nail anomaly skos:exactMatch Orphanet:183454 Genetic nail anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0021034 obsolete hereditary alopecia skos:exactMatch Orphanet:481771 Genetic alopecia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0021037 obsolete genetic neurodegenerative disease with dementia skos:exactMatch Orphanet:276058 Genetic neurodegenerative disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0021198 obsolete rare genetic disease skos:exactMatch Orphanet:98053 Rare genetic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0022397 obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene skos:exactMatch Orphanet:156168 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0022400 obsolete retinal ciliopathy due to mutation in the RPGRIP gene skos:exactMatch Orphanet:156174 Retinal ciliopathy due to mutation in the RPGRIP gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0022404 obsolete retinal ciliopathy due to mutation in Usher gene skos:exactMatch Orphanet:156177 Retinal ciliopathy due to mutation in Usher gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0022405 obsolete retinal ciliopathy due to mutation in nephronophthisis gene skos:exactMatch Orphanet:156180 Retinal ciliopathy due to mutation in nephronophthisis gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0022407 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene skos:exactMatch Orphanet:156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0022409 obsolete nephropathy-associated ciliopathy skos:exactMatch Orphanet:156162 Renal ciliopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease skos:exactMatch Orphanet:138041 Pierre Robin syndrome associated with collagen disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly skos:exactMatch Orphanet:138047 Pierre Robin syndrome associated with a chromosomal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies skos:exactMatch Orphanet:138050 Pierre Robin syndrome associated with branchial archs anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease skos:exactMatch Orphanet:138055 Pierre Robin syndrome associated with bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0024471 obsolete non-inflammatory vasculopathy skos:exactMatch Orphanet:496924 Non-inflammatory vasculopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0024987 obsolete genetic urogenital tract malformation skos:exactMatch Orphanet:156622 Genetic urogenital tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0025511 obsolete inherited neuroendocrine tumor skos:exactMatch Orphanet:271847 Genetic neuroendocrine tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026141 obsolete genetic urticaria skos:exactMatch Orphanet:182734 Genetic urticaria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026150 obsolete genetic erythrokeratoderma skos:exactMatch Orphanet:183438 Genetic erythrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026151 obsolete genetic acrokeratoderma skos:exactMatch Orphanet:183441 Genetic acrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026152 obsolete genetic porokeratosis skos:exactMatch Orphanet:183444 Genetic porokeratosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026157 obsolete genetic pigmentation anomaly of the skin skos:exactMatch Orphanet:183463 Genetic pigmentation anomaly of the skin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026160 obsolete genetic dermis disorder skos:exactMatch Orphanet:183472 Genetic dermis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026166 obsolete genetic immune deficiency with skin involvement skos:exactMatch Orphanet:183494 Genetic immune deficiency with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026167 obsolete genetic neuromuscular disease skos:exactMatch Orphanet:183497 Genetic neuromuscular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026170 obsolete genetic central nervous system malformation skos:exactMatch Orphanet:183506 Genetic central nervous system malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026173 obsolete rare genetic medullar disease skos:exactMatch Orphanet:183515 Rare genetic medullar disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026180 obsolete genetic congenital limb malformation skos:exactMatch Orphanet:183536 Genetic congenital limb malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026181 obsolete genetic renal or urinary tract malformation skos:exactMatch Orphanet:183539 Genetic renal or urinary tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026182 obsolete genetic cranial malformation skos:exactMatch Orphanet:183542 Genetic cranial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026183 obsolete genetic digestive tract malformation skos:exactMatch Orphanet:183545 Genetic digestive tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026184 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026185 obsolete genetic respiratory or mediastinal malformation skos:exactMatch Orphanet:183554 Genetic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026186 obsolete genetic developmental defect of the eye skos:exactMatch Orphanet:183557 Genetic developmental defect of the eye semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026187 obsolete genetic malformation syndrome with short stature skos:exactMatch Orphanet:183570 Genetic malformation syndrome with short stature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026188 obsolete genetic overgrowth/obesity syndrome skos:exactMatch Orphanet:183573 Genetic overgrowth/obesity syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026189 obsolete genetic branchial arch or oral-acral syndrome skos:exactMatch Orphanet:183576 Genetic branchial arch or oral-acral syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026190 obsolete genetic malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:183580 Genetic malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026192 obsolete genetic glomerular disease skos:exactMatch Orphanet:183586 Genetic glomerular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026193 obsolete genetic thrombotic microangiopathy skos:exactMatch Orphanet:183589 Genetic thrombotic microangiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026203 obsolete genetic respiratory malformation skos:exactMatch Orphanet:183622 Genetic respiratory malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0026209 obsolete genetic polyendocrinopathy skos:exactMatch Orphanet:183643 Genetic polyendocrinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027652 5-fluorouracil toxicity skos:exactMatch Orphanet:240839 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027653 abacavir toxicity skos:exactMatch Orphanet:240841 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027655 allopurinol toxicity skos:exactMatch Orphanet:240845 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027664 cisplatin toxicity skos:exactMatch Orphanet:240863 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027666 codeine toxicity skos:exactMatch Orphanet:240867 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027667 efavirenz toxicity skos:exactMatch Orphanet:240869 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027668 flucloxacilline toxicity skos:exactMatch Orphanet:240871 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027675 irinotecan toxicity skos:exactMatch Orphanet:240885 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027677 isoniazid toxicity skos:exactMatch Orphanet:240887 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027687 raltegravir toxicity skos:exactMatch Orphanet:240905 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027696 voriconazole toxicity skos:exactMatch Orphanet:240921 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027750 obsolete serpinopathy with toxic serpin polymerization skos:exactMatch Orphanet:250808 Serpinopathy with toxic serpin polymerization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027751 obsolete serpinopathy with loss of serpin function skos:exactMatch Orphanet:250811 Serpinopathy with loss of serpin function semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0027929 obsolete genetic polycythemia skos:exactMatch Orphanet:250165 Genetic polycythemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0028569 obsolete genetic interstitial lung disease skos:exactMatch Orphanet:264992 Genetic interstitial lung disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0028618 obsolete gastroenteric neuroendocrine neoplasm skos:exactMatch Orphanet:481508 Gastroenteric neuroendocrine neoplasm semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0028737 obsolete biliary atresia disorder skos:exactMatch Orphanet:498345 Biliary atresia and associated disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0028795 obsolete rare genetic systemic or rheumatologic disease skos:exactMatch Orphanet:271870 Rare genetic systemic or rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0028868 obsolete genetic frontotemporal degeneration with dementia skos:exactMatch Orphanet:276061 Genetic frontotemporal degeneration with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0029014 obsolete rare systemic or rheumatological disease of childhood skos:exactMatch Orphanet:280342 Rare systemic or rheumatological disease of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0029102 obsolete autosomal ichthyosis syndrome with other associated signs skos:exactMatch Orphanet:281244 Autosomal ichthyosis syndrome with other associated signs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0029810 obsolete laminopathy with striated muscle involvement skos:exactMatch Orphanet:300755 Laminopathy with striated muscle involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0029811 obsolete laminopathy with peripheral neuropathy skos:exactMatch Orphanet:300758 Laminopathy with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0029812 obsolete laminopathy with lipodystrophy skos:exactMatch Orphanet:300763 Laminopathy with lipodystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0029813 obsolete laminopathy with premature aging skos:exactMatch Orphanet:300766 Laminopathy with premature aging semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:322126 Genetic tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0031004 obsolete genetic disorder of sex development of gynecological interest skos:exactMatch Orphanet:325665 Genetic difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0031016 obsolete genetic disorder of sex development skos:exactMatch Orphanet:325690 Genetic difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0031689 obsolete genetic progeroid syndrome skos:exactMatch Orphanet:363245 Genetic progeroid syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0031697 obsolete genetic intractable diarrhea of infancy skos:exactMatch Orphanet:363300 Genetic intractable diarrhea of infancy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0031698 obsolete genetic intestinal disease due to fat malabsorption skos:exactMatch Orphanet:363306 Genetic intestinal disease due to fat malabsorption semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0031949 obsolete genetic neurovascular malformation skos:exactMatch Orphanet:371436 Genetic neurovascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0031952 obsolete genetic syndromic esophageal malformation skos:exactMatch Orphanet:371445 Genetic syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0032011 obsolete biological anomaly skos:exactMatch Orphanet:377790 Biological anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0032013 obsolete clinical syndrome skos:exactMatch Orphanet:377792 Clinical syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0032014 obsolete particular clinical situation in a disease or syndrome skos:exactMatch Orphanet:377793 Particular clinical situation in a disease or syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0032221 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033056 obsolete genetic facial cleft skos:exactMatch Orphanet:414726 Genetic facial cleft semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033169 curariform drugs toxicity skos:exactMatch Orphanet:413693 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033170 statin toxicity skos:exactMatch Orphanet:413696 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033181 phenytoin or carbamazepine toxicity skos:exactMatch Orphanet:414750 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033329 obsolete genetic precocious puberty skos:exactMatch Orphanet:435554 Genetic precocious puberty semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033331 obsolete genetic precocious puberty in female skos:exactMatch Orphanet:435564 Genetic precocious puberty in female semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033334 obsolete genetic nose and cavum anomaly skos:exactMatch Orphanet:435606 Genetic nose and cavum anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033335 obsolete genetic larynx anomaly skos:exactMatch Orphanet:435609 Genetic larynx anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033336 obsolete genetic tracheal anomaly skos:exactMatch Orphanet:435612 Genetic tracheal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0033927 obsolete genetic complex vascular malformation with associated anomalies skos:exactMatch Orphanet:459537 Genetic complex vascular malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034039 obsolete genetic hemoglobinopathy skos:exactMatch Orphanet:466066 Genetic hemoglobinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034443 obsolete genetic non-acquired premature ovarian failure skos:exactMatch Orphanet:485382 Genetic premature ovarian failure semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034641 obsolete rare genetic hyperkinetic movement disorder skos:exactMatch Orphanet:496916 Rare genetic hyperkinetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034661 obsolete syndromic biliary atresia skos:exactMatch Orphanet:498350 Syndromic biliary atresia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034667 obsolete longitudinal limb defect skos:exactMatch Orphanet:498457 Longitudinal limb defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034668 obsolete terminal transverse limb defect skos:exactMatch Orphanet:498461 Terminal transverse limb defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034669 obsolete non-syndromic preaxial polydactyly skos:exactMatch Orphanet:498464 Non-syndromic preaxial polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034670 obsolete non-syndromic postaxial polydactyly skos:exactMatch Orphanet:498467 Non-syndromic postaxial polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034671 obsolete non-syndromic complex polydactyly skos:exactMatch Orphanet:498470 Non-syndromic complex polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034733 obsolete cochlear nerve deficiency skos:exactMatch Orphanet:502318 Cochlear nerve deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034901 obsolete ATP13A2-related parkinsonism skos:exactMatch Orphanet:514980 ATP13A2-related parkinsonism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034923 obsolete inflammatory/autoimmune disorder involving the lacrimal system skos:exactMatch Orphanet:519264 Inflammatory/autoimmune disorder involving the lacrimal system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034926 obsolete rare disorder with entropion skos:exactMatch Orphanet:519270 Rare disorder with entropion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034931 obsolete rare conjunctivitis skos:exactMatch Orphanet:519280 Rare conjunctivitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034937 obsolete syndromic ectopia lentis skos:exactMatch Orphanet:519292 Syndromic ectopia lentis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034943 obsolete isolated vitreoretinopathy skos:exactMatch Orphanet:519304 Isolated vitreoretinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034953 obsolete syndromic inherited retinal disorder skos:exactMatch Orphanet:519325 Syndromic inherited retinal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034954 obsolete syndromic vitreoretinopathy skos:exactMatch Orphanet:519327 Syndromic vitreoretinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034961 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature skos:exactMatch Orphanet:519341 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034962 obsolete rare ophthalmic disorder with cortical involvement skos:exactMatch Orphanet:519343 Rare ophthalmic disorder with cortical involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034965 obsolete rare ophthalmic disorder with cranial nerve involvement skos:exactMatch Orphanet:519349 Rare ophthalmic disorder with cranial nerve involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034968 obsolete rare ocular motility/alignment disorder skos:exactMatch Orphanet:519355 Rare ocular motility/alignment disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0034977 obsolete isolated microspherophakia skos:exactMatch Orphanet:519396 Isolated microspherophakia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035001 obsolete rare disorder of the visual organs skos:exactMatch Orphanet:520814 Rare disorder of the visual organs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035002 obsolete isolated inherited retinal disorder skos:exactMatch Orphanet:520817 Isolated inherited retinal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035013 obsolete genetic primary orthostatic disorder skos:exactMatch Orphanet:521232 Genetic primary orthostatic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035014 obsolete primary orthostatic disorder skos:exactMatch Orphanet:521236 Primary orthostatic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035037 obsolete rare genetic disorder of the visual organs skos:exactMatch Orphanet:522504 Rare genetic disorder of the visual organs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035075 obsolete secondary early-onset glaucoma of genetic origin skos:exactMatch Orphanet:522580 Secondary early-onset glaucoma of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035162 obsolete PIK3CA-related overgrowth syndrome skos:exactMatch Orphanet:530313 PIK3CA-related overgrowth syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035274 obsolete anomaly of the coronary ostia skos:exactMatch Orphanet:542822 Anomaly of the coronary ostia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035328 obsolete rare disorder due to poisoning skos:exactMatch Orphanet:556508 Rare disorder due to poisoning semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035426 obsolete rare disorder potentially indicated for transplant or complication after transplantation skos:exactMatch Orphanet:565779 Rare disorder potentially indicated for transplant or complication after transplantation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035469 obsolete primary lymphedema without systemic or visceral involvement skos:exactMatch Orphanet:568041 Primary lymphedema without systemic or visceral involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035470 obsolete primary lymphedema with systemic or visceral involvement skos:exactMatch Orphanet:568044 Primary lymphedema with systemic or visceral involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035471 obsolete disorder with multisystemic involvement and primary lymphedema skos:exactMatch Orphanet:568047 Disorder with multisystemic involvement and primary lymphedema semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035561 obsolete sporadic human prion disease skos:exactMatch Orphanet:576356 Sporadic human prion disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035645 obsolete inherited gynecological cancer-predisposing syndrome skos:exactMatch Orphanet:589746 Inherited gynecological cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035682 obsolete fibrous dysplasia/McCune-Albright syndrome skos:exactMatch Orphanet:595216 Fibrous dysplasia/McCune-Albright syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035684 obsolete epidermolysis bullosa simplex without extracutaneous involvement skos:exactMatch Orphanet:595346 Epidermolysis bullosa simplex without extracutaneous involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035685 obsolete epidermolysis bullosa simplex with extracutaneous involvement skos:exactMatch Orphanet:595351 Epidermolysis bullosa simplex with extracutaneous involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035689 obsolete syndrome of reduced sensitivity to thyroid hormone skos:exactMatch Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035786 obsolete non-syndromic cloacal malformation skos:exactMatch Orphanet:600998 Non-syndromic cloacal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch Orphanet:611327 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035875 ivermectin toxicity skos:exactMatch Orphanet:574637 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0035876 belinostat toxicity or dose selection skos:exactMatch Orphanet:574671 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0036025 toxicity to dolutegravir skos:exactMatch Orphanet:596744 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0037716 obsolete rare genetic deafness skos:exactMatch Orphanet:96210 Rare genetic deafness semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0037860 obsolete rare systemic or rheumatologic disease skos:exactMatch Orphanet:98023 Rare systemic or rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0038261 obsolete genetic neurological channelopathy of the central nervous system skos:exactMatch Orphanet:98743 Genetic neurological channelopathy of the central nervous system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0038268 obsolete autoimmune neurological channelopathy skos:exactMatch Orphanet:98750 Autoimmune neurological channelopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0043005 obsolete genetic multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:183533 Genetic multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0043008 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:exactMatch Orphanet:330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0044636 obsolete rare hyperkinetic movement disorder skos:exactMatch Orphanet:494457 Rare hyperkinetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect skos:exactMatch Orphanet:497623 C12ORF65-related combined oxidative phosphorylation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0800084 obsolete primary bone dysplasia with increased bone density skos:exactMatch Orphanet:93444 Primary bone dysplasia with increased bone density semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0800087 obsolete type 11 collagen-related bone disorder skos:exactMatch Orphanet:93422 Type 11 collagen-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0800089 obsolete primary bone dysplasia with disorganized development of skeletal components skos:exactMatch Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0800090 obsolete ectrodactyly with and without other manifestations skos:exactMatch Orphanet:498477 Ectrodactyly with and without other manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0800091 obsolete overgrowth or tall stature syndrome with skeletal involvement skos:exactMatch Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0800092 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy skos:exactMatch Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0800093 obsolete dysostosis with brachydactyly without extraskeletal manifestations skos:exactMatch Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0800094 obsolete dysostosis with brachydactyly with extraskeletal manifestations skos:exactMatch Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect skos:exactMatch Orphanet:93459 Syndrome with synostosis or other joint formation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0957001 obsolete hereditary mixed dermis disorder skos:exactMatch Orphanet:183481 Genetic mixed dermis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0957009 obsolete hereditary posterior fossa malformation skos:exactMatch Orphanet:269557 Genetic posterior fossa malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0957024 obsolete hereditary 46,XX disorder of sex development skos:exactMatch Orphanet:325697 Genetic 46,XX difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0957025 obsolete hereditary 46,XY disorder of sex development skos:exactMatch Orphanet:325706 Genetic 46,XY difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0957404 obsolete pyogenic autoinflammatory syndrome of childhood skos:exactMatch Orphanet:324942 Pyogenic autoinflammatory syndrome of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:8000030 obsolete morphological anomaly skos:exactMatch Orphanet:377791 Morphological anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:8000031 obsolete subtype of a disorder skos:exactMatch Orphanet:557494 subtype of a disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:8000033 obsolete group of disorders skos:exactMatch Orphanet:557492 group of disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment +MONDO:0002095 vascular cancer skos:exactMatch Orphanet:673466 Malignant vascular tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant vascular tumor LEXMATCH +MONDO:0002520 hepatic porphyria skos:exactMatch Orphanet:659694 Hepatic porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatic porphyria LEXMATCH +MONDO:0003258 hobnail hemangioma skos:exactMatch Orphanet:675362 Hobnail hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hobnail hemangioma LEXMATCH +MONDO:0003999 juvenile pilocytic astrocytoma skos:exactMatch Orphanet:673580 Classic pilocytic astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile pilocytic astrocytoma LEXMATCH +MONDO:0003999 juvenile pilocytic astrocytoma skos:exactMatch Orphanet:673580 Classic pilocytic astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym juvenile pilocytic astrocytoma LEXMATCH +MONDO:0005774 glanders skos:exactMatch Orphanet:659908 Glanders semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glanders LEXMATCH +MONDO:0005888 ornithosis skos:exactMatch Orphanet:660053 Psittacosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label psittacosis LEXMATCH +MONDO:0005888 ornithosis skos:exactMatch Orphanet:660053 Psittacosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ornithosis LEXMATCH +MONDO:0007753 Frey syndrome skos:exactMatch Orphanet:662240 Frey syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frey syndrome LEXMATCH +MONDO:0008858 Behr syndrome skos:exactMatch Orphanet:1239 Behr syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label behr syndrome LEXMATCH +MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch Orphanet:123971 ornithine aminotransferase semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gyrate atrophy LEXMATCH +MONDO:0009796 ornithine aminotransferase deficiency skos:exactMatch Orphanet:123971 ornithine aminotransferase semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hoga LEXMATCH +MONDO:0009902 cutaneous porphyria skos:exactMatch Orphanet:659681 Erythropoietic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label erythropoietic porphyria LEXMATCH +MONDO:0010431 Joubert syndrome 10 skos:exactMatch Orphanet:123982 OFD1 centriole and centriolar satellite protein semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joubert syndrome type 10 LEXMATCH +MONDO:0011997 Hermansky-Pudlak syndrome 2 skos:exactMatch Orphanet:664500 Hermansky-Pudlak syndrome due to AP3B1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hermansky-pudlak syndrome type 2 LEXMATCH +MONDO:0013656 intellectual disability, autosomal dominant 9 skos:exactMatch Orphanet:662367 NESCAV syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nescav syndrome LEXMATCH +MONDO:0014885 Hermansky-Pudlak syndrome 10 skos:exactMatch Orphanet:664511 Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hermansky-pudlak syndrome type 10 LEXMATCH +MONDO:0015076 obsolete rare parathyroid tumor skos:exactMatch Orphanet:100090 Rare parathyroid tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015081 obsolete neuroendocrine tumor with other location skos:exactMatch Orphanet:100101 Neuroendocrine tumor with other location semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015088 obsolete autosomal dominant pure spastic paraplegia skos:exactMatch Orphanet:100980 Autosomal dominant pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015089 obsolete autosomal recessive complex spastic paraplegia skos:exactMatch Orphanet:100981 Autosomal recessive complex spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015090 obsolete autosomal recessive pure spastic paraplegia skos:exactMatch Orphanet:100982 Autosomal recessive pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015106 obsolete rare urogenital disease skos:exactMatch Orphanet:101433 Rare urogenital disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015107 obsolete rare genetic eye disease skos:exactMatch Orphanet:101435 Rare genetic eye disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015110 obsolete genetic cardiac rhythm disease skos:exactMatch Orphanet:101934 Genetic cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015111 obsolete gastroesophageal disease skos:exactMatch Orphanet:101936 Rare gastroesophageal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015112 obsolete rare pancreatic disease skos:exactMatch Orphanet:101937 Rare pancreatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015113 obsolete rare vascular liver disease skos:exactMatch Orphanet:101938 Rare vascular liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015114 obsolete rare parenchymal liver disease skos:exactMatch Orphanet:101939 Rare parenchymal liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015115 obsolete rare genetic metabolic liver disease skos:exactMatch Orphanet:101940 Rare metabolic liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015116 obsolete rare biliary tract disease skos:exactMatch Orphanet:101941 Rare biliary tract disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015117 obsolete rare hepatic and biliary tract tumor skos:exactMatch Orphanet:101943 Rare hepatic and biliary tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015118 obsolete rare pulmonary disease skos:exactMatch Orphanet:101944 Rare pulmonary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015119 obsolete bronchopulmonary tumor skos:exactMatch Orphanet:101945 Rare bronchopulmonary and pleural cavity tumors semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015121 obsolete rare eye tumor skos:exactMatch Orphanet:101950 Rare eye tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015122 obsolete rare diabetes mellitus skos:exactMatch Orphanet:101952 Rare diabetes mellitus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015123 obsolete rare inherited dyslipidemia skos:exactMatch Orphanet:101953 Rare dyslipidemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015124 obsolete rare adrenal disease skos:exactMatch Orphanet:101954 Rare adrenal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015125 obsolete rare thyroid disease skos:exactMatch Orphanet:101955 Rare thyroid disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015130 obsolete acquired chronic primary adrenal insufficiency skos:exactMatch Orphanet:101963 Acquired chronic primary adrenal insufficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015132 obsolete immunodeficiency predominantly affecting antibody production skos:exactMatch Orphanet:101977 Immunodeficiency predominantly affecting antibody production semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015133 obsolete quantitative and/or qualitative congenital phagocyte defect skos:exactMatch Orphanet:101985 Quantitative and/or qualitative congenital phagocyte defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015135 obsolete primary immunodeficiency due to a genetic defect in innate immunity skos:exactMatch Orphanet:101988 Primary immunodeficiency due to a defect in innate immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015139 obsolete rare epilepsy skos:exactMatch Orphanet:101998 Rare epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015141 obsolete disorder of medulla oblongata skos:exactMatch Orphanet:102000 Medullar disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015143 obsolete rare movement disorder skos:exactMatch Orphanet:102003 Rare movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015144 obsolete brain inflammatory disease skos:exactMatch Orphanet:102005 Brain inflammatory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015145 obsolete neurovascular malformation skos:exactMatch Orphanet:102006 Neurovascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015162 obsolete rare syndromic intellectual disability skos:exactMatch Orphanet:102369 Rare syndromic intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015180 obsolete intestinal disease due to fat malabsorption skos:exactMatch Orphanet:104005 Intestinal disease due to fat malabsorption semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015188 obsolete metabolic disorder with intestinal involvement skos:exactMatch Orphanet:104013 Metabolic disease with intestinal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015207 obsolete non-syndromic esophageal malformation skos:exactMatch Orphanet:108959 Non-syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015208 obsolete syndromic esophageal malformation skos:exactMatch Orphanet:108961 Syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015209 obsolete non-syndromic gastroduodenal malformation skos:exactMatch Orphanet:108963 Non-syndromic gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015210 obsolete syndromic gastroduodenal malformation skos:exactMatch Orphanet:108965 Syndromic gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015214 obsolete syndromic visceral malformation skos:exactMatch Orphanet:108973 Syndromic visceral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015215 obsolete non-syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108977 Non-syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015216 obsolete syndromic diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:108979 Syndromic diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015219 obsolete non-syndromic central nervous system malformation skos:exactMatch Orphanet:108989 Non-syndromic central nervous system malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015220 obsolete syndrome with a central nervous system malformation as major feature skos:exactMatch Orphanet:108991 Syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015221 obsolete non-syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108993 Non-syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015222 obsolete syndromic respiratory or mediastinal malformation skos:exactMatch Orphanet:108995 Syndromic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015223 obsolete rare anemia skos:exactMatch Orphanet:108997 Rare anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015224 obsolete rare intoxication skos:exactMatch Orphanet:108999 Rare disorder due to toxic effects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015227 obsolete non-syndromic limb malformation skos:exactMatch Orphanet:109011 Non-syndromic limb malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015245 obsolete rare intestinal disease skos:exactMatch Orphanet:117569 Rare intestinal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015305 obsolete rare endometriosis skos:exactMatch Orphanet:137820 Extrapelvic endometriosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015310 obsolete syndromic optic nerve hypoplasia skos:exactMatch Orphanet:137905 Syndromic optic nerve hypoplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015319 obsolete rare disease with Pierre Robin syndrome skos:exactMatch Orphanet:138044 Rare disease with Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015323 obsolete teratogenic Pierre Robin syndrome skos:exactMatch Orphanet:138059 Teratogenic Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015328 obsolete rare bone development disorder skos:exactMatch Orphanet:139012 Rare bone development disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015329 obsolete malformation syndrome with short stature skos:exactMatch Orphanet:139021 Malformation syndrome with short stature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015330 obsolete overgrowth/obesity syndrome skos:exactMatch Orphanet:139024 Overgrowth/obesity syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015331 obsolete malformation syndrome with skin/mucosae involvement skos:exactMatch Orphanet:139027 Rare developmental defect with skin/mucosae involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015332 obsolete rare developmental defect with connective tissue involvement skos:exactMatch Orphanet:139030 Rare developmental defect with connective tissue involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015334 obsolete branchial arch or oral-acral syndrome skos:exactMatch Orphanet:139036 Branchial arch or oral-acral syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015335 obsolete Mendelian syndromes with cleft lip/palate skos:exactMatch Orphanet:139039 Orofacial clefting syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015336 obsolete malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:139042 Malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015359 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015360 obsolete autosomal dominant hereditary axonal motor and sensory neuropathy skos:exactMatch Orphanet:140456 Autosomal dominant hereditary axonal motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015361 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy skos:exactMatch Orphanet:140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015365 obsolete autosomal dominant hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140474 Autosomal dominant hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015366 obsolete autosomal recessive hereditary sensory and autonomic neuropathy skos:exactMatch Orphanet:140477 Autosomal recessive hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015368 obsolete neuro-ophthalmological disease skos:exactMatch Orphanet:140653 Neuro-ophthalmological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015475 obsolete rare head and neck malformation skos:exactMatch Orphanet:155832 Rare head and neck malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015485 obsolete primary hereditary glaucoma skos:exactMatch Orphanet:156005 Primary early-onset glaucoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015488 obsolete predominantly large-vessel vasculitis skos:exactMatch Orphanet:156140 Predominantly large-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015489 obsolete predominantly medium-vessel vasculitis skos:exactMatch Orphanet:156143 Predominantly medium-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015490 obsolete predominantly small-vessel vasculitis skos:exactMatch Orphanet:156146 Predominantly small-vessel vasculitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015495 obsolete otomandibular dysplasia associated with monogenic syndromes skos:exactMatch Orphanet:156202 Otomandibular dysplasia associated with monogenic syndromes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015499 obsolete paralytic facial malformation skos:exactMatch Orphanet:156224 Paralytic facial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015501 obsolete syndrome or malformation associated with head and neck malformations skos:exactMatch Orphanet:156237 Syndrome or malformation associated with head and neck malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015502 obsolete pinnae and external auditory canal anomaly skos:exactMatch Orphanet:156243 Pinnae and external auditory canal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015504 obsolete larynx anomaly skos:exactMatch Orphanet:156249 Larynx anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015506 obsolete rare syndrome with cardiac malformations skos:exactMatch Orphanet:156532 Rare syndrome with cardiac malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015507 obsolete rare genetic hepatic disease skos:exactMatch Orphanet:156601 Rare genetic hepatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015508 obsolete hereditary parenchymatous liver disease skos:exactMatch Orphanet:156604 Genetic parenchymatous liver disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015509 obsolete hereditary biliary tract disease skos:exactMatch Orphanet:156607 Genetic biliary tract disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015510 obsolete rare genetic respiratory disease skos:exactMatch Orphanet:156610 Rare genetic respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015511 obsolete rare genetic urogenital disease skos:exactMatch Orphanet:156619 Rare genetic urogenital disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015512 obsolete genetic hypertension skos:exactMatch Orphanet:156629 Rare genetic cause of hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015513 obsolete rare genetic endocrine disease skos:exactMatch Orphanet:156638 Rare genetic endocrine disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015549 obsolete rare genetic hematologic disease skos:exactMatch Orphanet:158300 Rare genetic hematologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015572 obsolete cerebral malformation due to abnormal neuronal migration skos:exactMatch Orphanet:163209 Non-syndromic cerebral malformation due to abnormal neuronal migration semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015575 obsolete rare bacterial infectious disease skos:exactMatch Orphanet:163582 Rare bacterial infectious disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015576 obsolete rare viral disease skos:exactMatch Orphanet:163585 Rare viral disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015577 obsolete rare parasitic disease skos:exactMatch Orphanet:163588 Rare parasitic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015578 obsolete rare mycosis skos:exactMatch Orphanet:163591 Rare mycosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015582 obsolete rare disorder related with pregnancy, childbirth and puerperium skos:exactMatch Orphanet:163637 Rare disorder related with pregnancy, childbirth and puerperium semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015603 obsolete rare odontal or periodontal disorder skos:exactMatch Orphanet:164001 Rare odontal or periodontal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015615 obsolete rare genetic gastroenterological disease skos:exactMatch Orphanet:165652 Rare genetic gastroenterological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015616 obsolete rare genetic intestinal disease skos:exactMatch Orphanet:165655 Genetic intestinal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015617 obsolete hereditary gastro-esophageal disease skos:exactMatch Orphanet:165658 Genetic gastro-esophageal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015618 obsolete genetic pancreatic disease skos:exactMatch Orphanet:165661 Genetic pancreatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015620 obsolete syndromic urogenital tract malformation skos:exactMatch Orphanet:165707 Syndromic urogenital tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015621 obsolete rare abdominal surgical disease skos:exactMatch Orphanet:165711 Rare abdominal surgical disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015651 obsolete neurocutaneous syndrome with epilepsy skos:exactMatch Orphanet:166466 Neurocutaneous syndrome with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015652 obsolete chromosomal anomaly with epilepsy as a major feature skos:exactMatch Orphanet:166469 Chromosomal anomaly with epilepsy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015654 obsolete idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes skos:exactMatch Orphanet:166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015655 obsolete cerebral malformation with epilepsy skos:exactMatch Orphanet:166478 Cerebral malformation with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015656 obsolete metabolic disease with epilepsy skos:exactMatch Orphanet:166481 Metabolic diseases with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015657 obsolete inflammatory and autoimmune disease with epilepsy skos:exactMatch Orphanet:166484 Inflammatory and autoimmune disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015658 obsolete cerebral diseases of vascular origin with epilepsy skos:exactMatch Orphanet:166487 Cerebral diseases of vascular origin with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015659 obsolete infectious disease with epilepsy skos:exactMatch Orphanet:166490 Infectious disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015662 obsolete hemorrhagic disorder due to an acquired coagulation factor defect skos:exactMatch Orphanet:166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015668 obsolete hereditary dentin defect skos:exactMatch Orphanet:167759 Hereditary dentin defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015669 obsolete rare disease with dentinogenesis imperfecta skos:exactMatch Orphanet:167762 Rare disease with dentinogenesis imperfecta semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015673 obsolete rare cardiac tumor skos:exactMatch Orphanet:168194 Rare cardiac tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015682 obsolete primary peritoneal tumor skos:exactMatch Orphanet:168803 Primary peritoneal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015710 obsolete immune dysregulation disease with immunodeficiency skos:exactMatch Orphanet:169361 Immune dysregulation disease with immunodeficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015765 obsolete congenital myopathy with cores skos:exactMatch Orphanet:172976 Congenital myopathy with cores semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015777 obsolete adult hypothyroidism skos:exactMatch Orphanet:177101 Rare adult hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015778 obsolete syndromic hypothyroidism skos:exactMatch Orphanet:177107 Syndromic hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015789 obsolete non-acquired combined pituitary hormone deficiencies without extra-pituitary malformations skos:exactMatch Orphanet:178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015823 obsolete primary immunodeficiency due to a defect in adaptive immunity skos:exactMatch Orphanet:179006 Primary immunodeficiency due to a defect in adaptive immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015846 obsolete syndromic uterovaginal malformation skos:exactMatch Orphanet:180148 Syndromic uterovaginal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015851 obsolete rare breast malformation skos:exactMatch Orphanet:180163 Rare breast malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015852 obsolete excess breast volume or number skos:exactMatch Orphanet:180170 Excess breast volume or number semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015853 obsolete deficient breast volume or number skos:exactMatch Orphanet:180173 Deficient breast volume or number semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015857 obsolete rare non-malformative gynecologic or obstetric disease skos:exactMatch Orphanet:180199 Rare non-malformative gynecologic or obstetric disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015858 obsolete rare non-malformative breast disease skos:exactMatch Orphanet:180202 Rare non-malformative breast disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015859 obsolete rare non-malformative uterovaginal or vulvovaginal disease skos:exactMatch Orphanet:180205 Rare non-malformative uterovaginal or vulvovaginal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015860 obsolete anomaly of puberty or/and menstrual cycle skos:exactMatch Orphanet:180208 Anomaly of puberty or/and menstrual cycle semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015861 obsolete rare uterine adnexal tumor skos:exactMatch Orphanet:180220 Rare uterine adnexal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015868 obsolete rare breast tumor skos:exactMatch Orphanet:180250 Rare breast tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015870 obsolete rare malignant breast tumor skos:exactMatch Orphanet:180257 Rare malignant breast tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015875 obsolete rare non-malformative uterine adnexal disease skos:exactMatch Orphanet:180303 Rare non-malformative uterine adnexal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015876 obsolete rare vulvovaginal tumor skos:exactMatch Orphanet:180312 Rare vulvovaginal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015877 obsolete malformative syndrome with dentinogenesis imperfecta skos:exactMatch Orphanet:180766 Malformative syndrome with dentinogenesis imperfecta semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015879 obsolete non-syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180776 Non-syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015880 obsolete syndromic diaphragmatic or thoracic malformation skos:exactMatch Orphanet:180779 Syndromic diaphragmatic or thoracic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015881 obsolete gastroesophageal tumor skos:exactMatch Orphanet:180821 Rare gastroesophageal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015886 obsolete rare diabetes mellitus type 1 skos:exactMatch Orphanet:181371 Rare diabetes mellitus type 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015887 obsolete rare diabetes mellitus type 2 skos:exactMatch Orphanet:181376 Rare diabetes mellitus type 2 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015888 obsolete other rare diabetes mellitus skos:exactMatch Orphanet:181381 Other rare diabetes mellitus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015889 obsolete rare hypothalamic or pituitary disease skos:exactMatch Orphanet:181384 Rare hypothalamic or pituitary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015890 obsolete rare disorder with congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015891 obsolete hypogonadotropic hypogonadism associated with other endocrinopathies skos:exactMatch Orphanet:181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015893 obsolete rare hypothyroidism skos:exactMatch Orphanet:181396 Rare hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015894 obsolete rare hyperthyroidism skos:exactMatch Orphanet:181399 Rare hyperthyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015896 obsolete rare hypoparathyroidism skos:exactMatch Orphanet:181405 Rare hypoparathyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015897 obsolete rare hyperparathyroidism skos:exactMatch Orphanet:181408 Rare hyperparathyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015899 obsolete rare primary hyperaldosteronism skos:exactMatch Orphanet:181415 Rare primary hyperaldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015901 obsolete rare inherited hyperlipidemia skos:exactMatch Orphanet:181422 Rare hyperlipidemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015906 obsolete rare disorder with hypergonadotropic hypogonadism skos:exactMatch Orphanet:181441 Rare disorder with hypergonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015910 obsolete rare constitutional hemolytic anemia skos:exactMatch Orphanet:182043 Rare constitutional hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015911 obsolete rare acquired hemolytic anemia skos:exactMatch Orphanet:182047 Rare acquired hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015913 obsolete rare thrombotic disease of hematologic origin skos:exactMatch Orphanet:182054 Rare thrombotic disease of hematologic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015915 obsolete cerebellar malformation skos:exactMatch Orphanet:182061 Cerebellar malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015916 obsolete rare neuroinflammatory or neuroimmunological disease skos:exactMatch Orphanet:182064 Rare neuroinflammatory or neuroimmunological disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015918 obsolete rare neurodegenerative disease skos:exactMatch Orphanet:182070 Rare neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015921 obsolete ARX-related epileptic encephalopathy skos:exactMatch Orphanet:182079 ARX-related epileptic encephalopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015922 obsolete channelopathy with epilepsy skos:exactMatch Orphanet:182083 Channelopathy with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015930 obsolete respiratory malformation skos:exactMatch Orphanet:182111 Respiratory malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015931 obsolete rare urogenital tumor skos:exactMatch Orphanet:182114 Rare urogenital tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015940 obsolete rare rheumatologic disease skos:exactMatch Orphanet:182231 Rare rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015945 obsolete polymalformative genetic syndrome with increased risk of developing cancer skos:exactMatch Orphanet:183422 Polymalformative genetic syndrome with increased risk of developing cancer semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015946 obsolete rare genetic epidermal disorder skos:exactMatch Orphanet:183426 Genetic epidermal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015948 obsolete rare genetic skin vascular disorder skos:exactMatch Orphanet:183478 Genetic skin vascular disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015949 obsolete rare genetic subcutaneous tissue disorder skos:exactMatch Orphanet:183484 Genetic subcutaneous tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015950 obsolete inherited skin tumor skos:exactMatch Orphanet:183487 Genetic skin tumor or hamartoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015953 obsolete genetic central nervous system and retinal vascular disease skos:exactMatch Orphanet:183503 Genetic central nervous system and retinal vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015954 obsolete rare genetic headache disorder skos:exactMatch Orphanet:183509 Rare genetic headache semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015955 obsolete rare genetic epilepsy skos:exactMatch Orphanet:183512 Rare genetic epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015957 obsolete rare genetic movement disorder skos:exactMatch Orphanet:183521 Rare genetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015958 obsolete rare genetic bone disease skos:exactMatch Orphanet:183524 Rare genetic bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015959 obsolete inherited syndrome with bone tumors as a major feature skos:exactMatch Orphanet:183527 Genetic bone tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015960 obsolete rare genetic developmental defect during embryogenesis skos:exactMatch Orphanet:183530 Rare genetic developmental defect during embryogenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015961 obsolete hereditary head and neck malformation skos:exactMatch Orphanet:183583 Genetic head and neck malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015963 obsolete inherited renal tumor skos:exactMatch Orphanet:183595 Genetic renal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015966 obsolete hereditary eye tumor skos:exactMatch Orphanet:183619 Genetic eye tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015968 obsolete rare genetic hypothalamic or pituitary disease skos:exactMatch Orphanet:183628 Rare genetic hypothalamic or pituitary disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015969 obsolete rare genetic thyroid disease skos:exactMatch Orphanet:183631 Rare genetic thyroid disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015970 obsolete rare genetic parathyroid disease and phosphocalcic metabolism disorder skos:exactMatch Orphanet:183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015971 obsolete rare genetic adrenal disease skos:exactMatch Orphanet:183637 Rare genetic adrenal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015972 obsolete rare constitutional anemia skos:exactMatch Orphanet:183651 Rare constitutional anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015980 obsolete rare genetic gynecological and obstetrical diseases skos:exactMatch Orphanet:183731 Rare genetic gynecological and obstetrical diseases semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015981 obsolete inherited gynecological tumor skos:exactMatch Orphanet:183734 Genetic gynecological tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015982 obsolete rare genetic intellectual disability skos:exactMatch Orphanet:183757 Rare genetic intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0015984 obsolete rare genetic immune disease skos:exactMatch Orphanet:183770 Rare genetic immune disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016034 obsolete cleft lip with or without cleft palate skos:exactMatch Orphanet:1991 Cleft lip with or without cleft palate semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016054 obsolete cerebral malformation skos:exactMatch Orphanet:199633 Non-syndromic cerebral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016055 obsolete syndrome with corpus callosum agenesis /dysgenesis as a major feature skos:exactMatch Orphanet:199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016072 obsolete anomaly of puberty or/and menstrual cycle of genetic origin skos:exactMatch Orphanet:202940 Anomaly of puberty or/and menstrual cycle of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016104 obsolete infectious disease with peripheral neuropathy skos:exactMatch Orphanet:206613 Infectious disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016109 obsolete autosomal recessive distal myopathy skos:exactMatch Orphanet:206653 Autosomal recessive distal myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016110 obsolete non-dystrophic myopathy skos:exactMatch Orphanet:206656 Non-dystrophic myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016114 obsolete bulbospinal muscular atrophy of childhood skos:exactMatch Orphanet:206704 Bulbospinal muscular atrophy of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016115 obsolete bulbospinal muscular atrophy of adulthood skos:exactMatch Orphanet:206707 Bulbospinal muscular atrophy of adult semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016116 obsolete generalized bulbospinal muscular atrophy skos:exactMatch Orphanet:206710 Generalized bulbospinal muscular atrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016118 obsolete muscular glycogenosis skos:exactMatch Orphanet:206959 Muscular glycogenosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016131 obsolete spinal muscular atrophy associated with central nervous system anomaly skos:exactMatch Orphanet:207012 Spinal muscular atrophy associated with central nervous system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016132 obsolete rare hereditary disease with peripheral neuropathy skos:exactMatch Orphanet:207015 Rare hereditary disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016133 obsolete rare hereditary metabolic disease with peripheral neuropathy skos:exactMatch Orphanet:207018 Rare hereditary metabolic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016134 obsolete rare hereditary systemic disease with peripheral neuropathy skos:exactMatch Orphanet:207021 Rare hereditary systemic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016135 obsolete rare hereditary neurologic disease with peripheral neuropathy skos:exactMatch Orphanet:207025 Rare hereditary neurologic disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016137 obsolete acute and subacute inflammatory demyelinating polyneuropathy skos:exactMatch Orphanet:207038 Acute and subacute inflammatory demyelinating polyneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016138 obsolete malignant lymphoma with peripheral neuropathy skos:exactMatch Orphanet:207046 Malignant lymphoma with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016150 obsolete qualitative or quantitative defects of integrin alpha-7 skos:exactMatch Orphanet:207098 Qualitative or quantitative defects of integrin alpha-7 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016152 obsolete qualitative or quantitative defects of calpain skos:exactMatch Orphanet:207104 Qualitative or quantitative defects of calpain semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016154 obsolete qualitative or quantitative defects of myotubularin skos:exactMatch Orphanet:207110 Qualitative or quantitative defects of myotubularin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016157 obsolete qualitative or quantitative defects of fukutin skos:exactMatch Orphanet:207122 Qualitative or quantitative defects of fukutin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016169 obsolete chronic acquired demyelinating polyneuropathy skos:exactMatch Orphanet:208974 Chronic acquired demyelinating polyneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016170 obsolete chronic polyradiculoneuropathy skos:exactMatch Orphanet:208978 Chronic polyradiculoneuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016172 obsolete acquired sensory ganglionopathy skos:exactMatch Orphanet:208984 Acquired sensory ganglionopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016177 obsolete systemic inflammatory disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016178 obsolete peripheral neuropathy associated with monoclonal gammopathy skos:exactMatch Orphanet:209010 Peripheral neuropathy associated with monoclonal gammopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016179 obsolete acquired amyloid peripheral neuropathy skos:exactMatch Orphanet:209013 Acquired amyloid peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016180 obsolete hematological disease associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209016 Hematological disease associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016181 obsolete solid tumor associated with an acquired peripheral neuropathy skos:exactMatch Orphanet:209019 Solid tumor associated with an acquired peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016182 obsolete qualitative or quantitative defects of protein O-mannose beta1, 2N-acetylglucosaminyltransferase skos:exactMatch Orphanet:209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016183 obsolete qualitative or quantitative defects of protein glycosyltransferase-like skos:exactMatch Orphanet:209027 Qualitative or quantitative defects of protein glycosyltransferase-like semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016196 obsolete qualitative or quantitative defects of emerin skos:exactMatch Orphanet:209188 Qualitative or quantitative defects of emerin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016200 obsolete qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase skos:exactMatch Orphanet:209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016221 obsolete temporomandibular joint anomaly skos:exactMatch Orphanet:210581 Temporomandibular joint anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016228 obsolete rare vascular tumor skos:exactMatch Orphanet:211237 Rare vascular tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016229 obsolete hereditary vascular anomaly skos:exactMatch Orphanet:211240 Genetic vascular anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016230 obsolete simple vascular malformation skos:exactMatch Orphanet:211243 Simple vascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016232 obsolete rare venous malformation skos:exactMatch Orphanet:211252 Rare venous malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016233 obsolete rare lymphatic system malformation skos:exactMatch Orphanet:211255 Rare lymphatic system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016235 obsolete complex vascular malformation with associated anomalies skos:exactMatch Orphanet:211277 Complex vascular malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016252 obsolete rare uterine cancer skos:exactMatch Orphanet:213564 Rare uterine cancer semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016253 obsolete rare cancer of corpus uteri skos:exactMatch Orphanet:213569 Rare cancer of corpus uteri semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016274 obsolete rare cancer of cervix uteri skos:exactMatch Orphanet:213761 Rare cancer of cervix uteri semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016320 obsolete rare hereditary thrombophilia skos:exactMatch Orphanet:217454 Rare hereditary thrombophilia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016343 obsolete unclassified cardiomyopathy skos:exactMatch Orphanet:217678 Unclassified cardiomyopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016347 obsolete rare cardiac rhythm disease skos:exactMatch Orphanet:218436 Rare cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016348 obsolete non-genetic cardiac rhythm disease skos:exactMatch Orphanet:218439 Non-genetic cardiac rhythm disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016375 obsolete acquired peripheral movement disorder skos:exactMatch Orphanet:221114 Acquired peripheral movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016397 obsolete lysosomal disease with epilepsy skos:exactMatch Orphanet:225681 Lysosomal disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016398 obsolete peroxisomal disease with epilepsy skos:exactMatch Orphanet:225686 Peroxisomal disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016399 obsolete amino acid or protein metabolism disease with epilepsy skos:exactMatch Orphanet:225689 Amino acid or protein metabolism disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016400 obsolete metal transport or utilization disorder with epilepsy skos:exactMatch Orphanet:225692 Metal transport or utilization disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016401 obsolete energy metabolism disorder with epilepsy skos:exactMatch Orphanet:225696 Energy metabolism disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016402 obsolete mitochondrial disease with epilepsy skos:exactMatch Orphanet:225700 Mitochondrial disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016403 obsolete mitochondrial disease with peripheral neuropathy skos:exactMatch Orphanet:225703 Mitochondrial disease with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016404 obsolete metabolic neurotransmission anomaly with epilepsy skos:exactMatch Orphanet:225707 Metabolic neurotransmission anomaly with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016405 obsolete sterol metabolism disorder with epilepsy skos:exactMatch Orphanet:225710 Sterol metabolism disorder with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016406 obsolete other metabolic disease with epilepsy skos:exactMatch Orphanet:225713 Other metabolic disease with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016409 obsolete primary congenital hypothyroidism skos:exactMatch Orphanet:226295 Primary congenital hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016428 obsolete multiple sclerosis variant skos:exactMatch Orphanet:228145 Multiple sclerosis variant semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016434 obsolete acquired dermis elastic tissue disorder skos:exactMatch Orphanet:228218 Acquired dermis elastic tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016435 obsolete acquired dermis elastic tissue disorder with decreased elastic tissue skos:exactMatch Orphanet:228221 Acquired dermis elastic tissue disorder with decreased elastic tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016436 obsolete acquired dermis elastic tissue disorder with increased elastic tissue skos:exactMatch Orphanet:228224 Acquired dermis elastic tissue disorder with increased elastic tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016493 obsolete variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231413 Variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016494 obsolete regional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231416 Regional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016495 obsolete functional variant of Guillain-Barre syndrome skos:exactMatch Orphanet:231419 Functional variant of Guillain-Barré syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016507 obsolete rare surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231637 Rare surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016508 obsolete rare non surgically correctable form of primary aldosteronism skos:exactMatch Orphanet:231641 Rare non surgically correctable form of primary aldosteronism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016517 obsolete rare genetic vascular disease skos:exactMatch Orphanet:233655 Rare genetic vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016518 obsolete isolated punctate palmoplantar keratoderma skos:exactMatch Orphanet:2338 Isolated punctate palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016524 obsolete congenital vascular bone syndrome skos:exactMatch Orphanet:235832 Congenital vascular bone syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016565 obsolete syndromic genetic obesity skos:exactMatch Orphanet:240371 Syndromic obesity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016578 obsolete mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies skos:exactMatch Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016579 obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis skos:exactMatch Orphanet:244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016623 obsolete rare deficiency anemia skos:exactMatch Orphanet:248293 Rare deficiency anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016627 obsolete rare hemorrhagic disorder skos:exactMatch Orphanet:248308 Rare hemorrhagic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016628 obsolete hemorrhagic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248315 Rare hemorrhagic disorder due to a coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016629 obsolete hemorrhagic disorder due to a platelet anomaly skos:exactMatch Orphanet:248326 Rare hemorrhagic disorder due to a platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016631 obsolete hemorrhagic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248347 Rare hemorrhagic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016632 obsolete thrombotic disorder due to a coagulation factors defect skos:exactMatch Orphanet:248358 Rare thrombotic disorder due to a coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016633 obsolete thrombotic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:248361 Rare thrombotic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016634 obsolete thrombotic disorder due to an acquired coagulation factors defect skos:exactMatch Orphanet:248365 Rare thrombotic disorder due to an acquired coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016635 obsolete thrombotic disorder due to a platelet anomaly skos:exactMatch Orphanet:248368 Rare thrombotic disorder due to a platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016636 obsolete thrombotic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:248401 Rare thrombotic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016637 obsolete thrombotic disorder due to an acquired platelet anomaly skos:exactMatch Orphanet:248404 Rare thrombotic disorder due to an acquired platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016645 obsolete rare neoplastic disease skos:exactMatch Orphanet:250908 Rare neoplastic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016678 obsolete maternal disease-related embryofetopathy skos:exactMatch Orphanet:251535 Maternal disease-related embryofetopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016679 obsolete rare tumor of neuroepithelial tissue skos:exactMatch Orphanet:251558 Rare tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016701 obsolete oligoastrocytic tumor skos:exactMatch Orphanet:251651 Oligoastrocytic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016704 obsolete glial tumor of neuroepithelial tissue with unknown origin skos:exactMatch Orphanet:251668 Glial tumor of neuroepithelial tissue with unknown origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016708 obsolete embryonal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251852 Embryonal tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016721 obsolete pineal tumor of neuroepithelial tissue skos:exactMatch Orphanet:251905 Pineal tumor of neuroepithelial tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016726 obsolete neuronal tumor skos:exactMatch Orphanet:251924 Neuronal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016744 obsolete primary melanocytic tumor of central nervous system skos:exactMatch Orphanet:252028 Primary melanocytic tumor of central nervous system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016756 obsolete inherited nervous system cancer-predisposing syndrome skos:exactMatch Orphanet:252190 Inherited nervous system cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016767 obsolete cutaneous lichen planus skos:exactMatch Orphanet:254370 Rare cutaneous lichen planus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016768 obsolete rare mucosal lichen planus skos:exactMatch Orphanet:254373 Rare mucosal lichen planus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016788 obsolete genetic hyperferritinemia without iron overload skos:exactMatch Orphanet:254704 Genetic hyperferritinemia without iron overload semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016791 obsolete mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies skos:exactMatch Orphanet:254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016792 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA skos:exactMatch Orphanet:254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016793 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA skos:exactMatch Orphanet:254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016794 obsolete maternally-inherited mitochondrial myopathy skos:exactMatch Orphanet:254788 Mitochondrial DNA-related mitochondrial myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016799 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism skos:exactMatch Orphanet:254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016803 obsolete unspecified inborn mitochondrial disorder skos:exactMatch Orphanet:254837 Unspecified mitochondrial disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016805 obsolete isolated oxidative phosphorylation complex disorder skos:exactMatch Orphanet:254846 Isolated oxidative phosphorylation complex disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016998 obsolete complex chromosomal rearrangement skos:exactMatch Orphanet:263708 Complex chromosomal rearrangement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0016999 obsolete X chromosome number anomaly skos:exactMatch Orphanet:263714 X chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017000 obsolete X chromosome number anomaly with female phenotype skos:exactMatch Orphanet:263717 X chromosome number anomaly with female phenotype semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017001 obsolete X chromosome number anomaly with male phenotype skos:exactMatch Orphanet:263720 X chromosome number anomaly with male phenotype semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017002 obsolete polysomy of X chromosome skos:exactMatch Orphanet:263723 Polysomy of X chromosome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017005 obsolete Y chromosome number anomaly skos:exactMatch Orphanet:263746 Y chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017006 obsolete X and Y chromosomal anomaly skos:exactMatch Orphanet:263749 X and Y chromosomal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017011 obsolete uniparental disomy of chromosome X skos:exactMatch Orphanet:263793 Uniparental disomy of chromosome X semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017085 obsolete malformation of the neurenteric canal, spinal cord and column skos:exactMatch Orphanet:268843 Malformation of the neurenteric canal, spinal cord and column semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017090 obsolete midline cerebral malformation skos:exactMatch Orphanet:268926 Midline cerebral malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017104 obsolete central nervous system cystic malformation skos:exactMatch Orphanet:269194 Central nervous system cystic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017114 obsolete global cerebellar malformation skos:exactMatch Orphanet:269224 Global cerebellar malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017118 obsolete syndrome with a cerebellar malformation as major feature skos:exactMatch Orphanet:269523 Syndrome with a cerebellar malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017120 obsolete other syndrome with a central nervous system malformation as major feature skos:exactMatch Orphanet:269531 Other syndrome with a central nervous system malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017121 obsolete syndrome with a Dandy-Walker malformation as major feature skos:exactMatch Orphanet:269546 Syndrome with a Dandy-Walker malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017122 obsolete genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature skos:exactMatch Orphanet:269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017127 obsolete inherited soft tissue tumor skos:exactMatch Orphanet:271832 Genetic soft tissue tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017128 obsolete inherited digestive tract tumor skos:exactMatch Orphanet:271835 Genetic digestive tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017129 obsolete inherited cardiac tumor skos:exactMatch Orphanet:271841 Genetic cardiac tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017130 obsolete genetic urogenital tumor skos:exactMatch Orphanet:271844 Genetic urogenital tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017131 obsolete hereditary cardiac anomaly skos:exactMatch Orphanet:271853 Genetic cardiac anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017141 obsolete hemorrhagic disorder due to a constitutional thrombocytopenia skos:exactMatch Orphanet:275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017142 obsolete hemorrhagic disorder due to a qualitative platelet defect skos:exactMatch Orphanet:275736 Rare hemorrhagic disorder due to a qualitative platelet defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017143 obsolete genetic infertility skos:exactMatch Orphanet:275742 Genetic infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017158 obsolete pulmonary hypertension with unclear multifactorial mechanism skos:exactMatch Orphanet:275844 Pulmonary hypertension with unclear multifactorial mechanism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017159 obsolete syndrome with pulmonary hypertension as a major feature skos:exactMatch Orphanet:275853 Syndrome with pulmonary hypertension as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017166 obsolete rare tumor of salivary glands skos:exactMatch Orphanet:276142 Rare tumor of salivary glands semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017234 obsolete inherited prion disease skos:exactMatch Orphanet:280400 Inherited human prion disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017259 obsolete systemic diseases with anterior uveitis skos:exactMatch Orphanet:280926 Systemic diseases with anterior uveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017260 obsolete systemic diseases with posterior uveitis skos:exactMatch Orphanet:280930 Systemic diseases with posterior uveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017261 obsolete systemic diseases with panuveitis skos:exactMatch Orphanet:280933 Systemic diseases with panuveitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017262 obsolete inherited non-syndromic ichthyosis skos:exactMatch Orphanet:281082 Inherited non-syndromic ichthyosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017270 obsolete autosomal ichthyosis syndrome skos:exactMatch Orphanet:281217 Autosomal ichthyosis syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017271 obsolete autosomal ichthyosis syndrome with prominent hair abnormalities skos:exactMatch Orphanet:281222 Autosomal ichthyosis syndrome with prominent hair abnormalities semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017272 obsolete autosomal ichthyosis syndrome with prominent neurologics signs skos:exactMatch Orphanet:281238 Autosomal ichthyosis syndrome with prominent neurologic signs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017273 obsolete autosomal ichthyosis syndrome with fatal disease course skos:exactMatch Orphanet:281241 Autosomal ichthyosis syndrome with fatal disease course semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017302 obsolete qualitative or quantitative defects of troponin skos:exactMatch Orphanet:284786 Qualitative or quantitative defects of troponin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017311 obsolete rare disease with thoracic aortic aneurysm and aortic dissection skos:exactMatch Orphanet:285014 Rare disease with thoracic aortic aneurysm and aortic dissection semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017368 obsolete systemic disease with skin involvement skos:exactMatch Orphanet:290836 Systemic disease with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017369 obsolete autoinflammatory syndrome with immune deficiency skos:exactMatch Orphanet:290839 Autoinflammatory syndrome with immune deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017370 obsolete autoinflammatory syndrome with skin involvement skos:exactMatch Orphanet:290842 Autoinflammatory syndrome with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017371 obsolete rare head and neck tumor skos:exactMatch Orphanet:290849 Rare head and neck tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017390 obsolete methylmalonic acidemia without homocystinuria skos:exactMatch Orphanet:293355 Methylmalonic acidemia without homocystinuria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017397 obsolete constitutional dyserythropoietic anemia skos:exactMatch Orphanet:293830 Constitutional dyserythropoietic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017414 obsolete rare nevus skos:exactMatch Orphanet:294057 Rare nevus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017420 obsolete intercalary limb defects skos:exactMatch Orphanet:294927 Non-syndromic intercalary limb defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017429 obsolete joint formation defects skos:exactMatch Orphanet:294949 Non-syndromic joint formation defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017431 obsolete non-syndromic limb overgrowth skos:exactMatch Orphanet:294953 Non-syndromic limb overgrowth semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017432 obsolete syndrome with limb reduction defects skos:exactMatch Orphanet:294955 Syndrome with limb reduction defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017633 obsolete rare intoxication due to medical products skos:exactMatch Orphanet:306640 Rare intoxication due to medical products semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017635 obsolete parkinsonian syndrome due to neurodegenerative disease skos:exactMatch Orphanet:306666 Rare parkinsonian syndrome due to neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017637 obsolete rare parkinsonian syndrome due to intoxication skos:exactMatch Orphanet:306679 Rare parkinsonian syndrome due to intoxication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017641 obsolete miscellaneous movement disorder due to neurodegenerative disease skos:exactMatch Orphanet:306695 Miscellaneous movement disorder due to neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017643 obsolete frontotemporal neurodegeneration with movement disorder skos:exactMatch Orphanet:306708 Frontotemporal neurodegeneration with movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017644 obsolete rare tremor disorder skos:exactMatch Orphanet:306712 Rare tremor disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017645 obsolete rare choreic movement disorder skos:exactMatch Orphanet:306715 Rare choreic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017646 obsolete neurodegenerative disease with chorea skos:exactMatch Orphanet:306719 Neurodegenerative disease with chorea semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017647 obsolete postinfectious autoimmune disease with chorea skos:exactMatch Orphanet:306727 Postinfectious autoimmune disease with chorea semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017650 obsolete rare myoclonus skos:exactMatch Orphanet:306747 Rare myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017651 obsolete primary myoclonus skos:exactMatch Orphanet:306750 Primary myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017652 obsolete rare disease with myoclonus as a major feature skos:exactMatch Orphanet:306753 Rare disease with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017653 obsolete epilepsy and/or ataxia with myoclonus as major feature skos:exactMatch Orphanet:306756 Epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017654 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature skos:exactMatch Orphanet:306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017656 obsolete motor stereotypies skos:exactMatch Orphanet:306765 Motor stereotypies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017657 obsolete rare paroxysmal movement disorder skos:exactMatch Orphanet:306768 Rare paroxysmal movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017660 obsolete rare genetic parkinsonian disorder skos:exactMatch Orphanet:307052 Rare genetic parkinsonian disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017661 obsolete rare parkinsonian syndrome due to genetic neurodegenerative disease skos:exactMatch Orphanet:307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017662 obsolete miscellaneous movement disorder due to genetic neurodegenerative disease skos:exactMatch Orphanet:307058 Miscellaneous movement disorder due to genetic neurodegenerative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307061 Rare genetic tremor disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017663 obsolete inherited tremor disorder skos:exactMatch Orphanet:307064 Rare genetic myoclonus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017665 obsolete rare genetic disease with myoclonus as a major feature skos:exactMatch Orphanet:307067 Rare genetic disease with myoclonus as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017667 obsolete isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:307148 Isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017669 obsolete disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307711 Disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017670 obsolete autosomal dominant diffuse mutilating palmoplantar keratoderma skos:exactMatch Orphanet:307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017671 obsolete autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017673 obsolete isolated focal palmoplantar keratoderma skos:exactMatch Orphanet:307846 Isolated focal palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017674 obsolete disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:307871 Disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017678 obsolete obsolete disease with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308023 Disease with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017679 obsolete obsolete autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017680 obsolete autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017710 obsolete congenital systemic veins anomaly skos:exactMatch Orphanet:3091 Congenital systemic veins anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017717 obsolete metabolic disease due to other fatty acid oxidation disorder skos:exactMatch Orphanet:309133 Metabolic disease due to other fatty acid oxidation disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017718 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes skos:exactMatch Orphanet:309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017742 obsolete disorder of O-xylosylglycan synthesis skos:exactMatch Orphanet:309450 Disorder of O-xylosylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017743 obsolete disorder of O-N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309458 Disorder of O-N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017744 obsolete disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis skos:exactMatch Orphanet:309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017745 obsolete disorder of O-mannosylglycan synthesis skos:exactMatch Orphanet:309469 Disorder of O-mannosylglycan synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017760 obsolete disorder of other vitamins and cofactors metabolism and transport skos:exactMatch Orphanet:309833 Disorder of other vitamins and cofactors metabolism and transport semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017797 obsolete rare odontologic tumor skos:exactMatch Orphanet:314425 Rare odontogenic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017820 obsolete obsolete disease with Cushing syndrome as a major feature skos:exactMatch Orphanet:314749 Rare disease with adrenal Cushing syndrome as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch Orphanet:315350 Autoimmune disease with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017891 obsolete inherited renal cancer-predisposing syndrome skos:exactMatch Orphanet:319328 Inherited renal cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017897 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency skos:exactMatch Orphanet:319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017898 obsolete autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017899 obsolete autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency skos:exactMatch Orphanet:319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017912 obsolete X-linked pure spastic paraplegia skos:exactMatch Orphanet:320332 X-linked pure spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017914 obsolete pure or complex autosomal dominant spastic paraplegia skos:exactMatch Orphanet:320342 Pure or complex autosomal dominant spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017915 obsolete pure or complex autosomal recessive spastic paraplegia skos:exactMatch Orphanet:320346 Pure or complex autosomal recessive spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017916 obsolete pure or complex X-linked spastic paraplegia skos:exactMatch Orphanet:320350 Pure or complex X-linked spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017954 obsolete pyogenic autoinflammatory syndrome skos:exactMatch Orphanet:324927 Pyogenic autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017955 obsolete granulomatous autoinflammatory syndrome skos:exactMatch Orphanet:324930 Granulomatous autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017956 obsolete mixed autoinflammatory and autoimmune syndrome skos:exactMatch Orphanet:324933 Mixed autoinflammatory and autoimmune syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017957 obsolete unclassified autoinflammatory syndrome skos:exactMatch Orphanet:324936 Unclassified autoinflammatory syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017961 obsolete 46,XX disorder of gonadal development skos:exactMatch Orphanet:325055 46,XX disorder of gonadal development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017962 obsolete 46,XX disorder of sex development induced by fetoplacental androgens excess skos:exactMatch Orphanet:325061 46,XX difference of sex development induced by fetoplacental androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017963 obsolete 46,XX disorder of sex development induced by endogenous maternal-derived androgen skos:exactMatch Orphanet:325093 46,XX difference of sex development induced by endogenous maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017964 obsolete 46,XX disorder of sex development induced by exogenous maternal-derived androgen skos:exactMatch Orphanet:325099 46,XX difference of sex development induced by exogenous maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017965 obsolete syndrome with 46,XX disorder of sex development skos:exactMatch Orphanet:325109 Syndrome with 46,XX difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017966 obsolete 46,XY disorder of gonadal development skos:exactMatch Orphanet:325118 46,XY disorder of gonadal development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017969 obsolete 46,XY disorder of sex development of endocrine origin skos:exactMatch Orphanet:325351 46,XY difference of sex development of endocrine origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017976 obsolete disorder of sex development of gynecological interest skos:exactMatch Orphanet:325620 Difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017977 obsolete 46,XY disorder of sex development of gynecological interest skos:exactMatch Orphanet:325632 46,XY difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0017978 obsolete syndrome with disorder of sex development of gynecological interest skos:exactMatch Orphanet:325638 Syndrome with difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018033 obsolete other immunodeficiency syndromes due to defects in innate immunity skos:exactMatch Orphanet:331193 Other immunodeficiency syndromes due to defects in innate immunity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018035 obsolete syndrome with combined immunodeficiency skos:exactMatch Orphanet:331217 Syndrome with combined immunodeficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018036 obsolete immunodeficiency due to absence of thymus skos:exactMatch Orphanet:331220 Syndome with combined immunodeficiency due to thymic defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018038 obsolete immunodeficiency with isotype or light chain deficiencies with normal number of B-cells skos:exactMatch Orphanet:331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018041 obsolete other immunodeficiency syndrome with predominantly antibody defects skos:exactMatch Orphanet:331244 Other immunodeficiency syndrome with predominantly antibody defects semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018118 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement skos:exactMatch Orphanet:352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018119 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement skos:exactMatch Orphanet:352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018120 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement skos:exactMatch Orphanet:352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018157 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis skos:exactMatch Orphanet:35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018185 obsolete congenital anomaly of the great veins skos:exactMatch Orphanet:363189 Congenital anomaly of the great veins semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018187 obsolete hereditary syndromic Pierre Robin syndrome skos:exactMatch Orphanet:363294 Genetic syndromic Pierre Robin syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018188 obsolete hereditary intestinal polyposis skos:exactMatch Orphanet:363314 Genetic intestinal polyposis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018191 obsolete tumor of testis and paratestis skos:exactMatch Orphanet:363472 Tumor of testis and paratestis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018200 obsolete acute encephalopathy with inflammation-mediated status epilepticus skos:exactMatch Orphanet:363567 Acute encephalopathy with inflammation-mediated status epilepticus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018231 obsolete primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments skos:exactMatch Orphanet:364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018232 obsolete primary bone dysplasia with micromelia skos:exactMatch Orphanet:364536 Primary bone dysplasia with micromelia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature skos:exactMatch Orphanet:364568 Dysostosis with limb anomaly as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature skos:exactMatch Orphanet:364571 Dysostosis with limb and face anomalies as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018246 obsolete homozygous 2p21 microdeletion syndrome skos:exactMatch Orphanet:369886 Homozygous 2p21 microdeletion syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018262 obsolete fetal anticonvulsant syndrome skos:exactMatch Orphanet:370068 Fetal anticonvulsant syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018265 obsolete rare disorder with dystonia and other neurologic or systemic manifestation skos:exactMatch Orphanet:370106 Rare disorder with dystonia and other neurologic or systemic manifestation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018283 obsolete primary qualitative or quantitative defects of alpha-dystroglycan skos:exactMatch Orphanet:371040 Primary qualitative or quantitative defects of alpha-dystroglycan semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018284 obsolete congenital disorder of glycosylation with neurological involvement skos:exactMatch Orphanet:371047 Congenital disorder of glycosylation with neurological involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018287 obsolete congenital disorder of glycosylation with epilepsy as a major feature skos:exactMatch Orphanet:371071 Congenital disorder of glycosylation with epilepsy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018288 obsolete congenital disorder of glycosylation with hepatic involvement skos:exactMatch Orphanet:371157 Congenital disorder of glycosylation with hepatic involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018290 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature skos:exactMatch Orphanet:371183 Congenital disorder of glycosylation with cardiac malformation as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018291 obsolete congenital disorder of glycosylation with intestinal involvement skos:exactMatch Orphanet:371188 Congenital disorder of glycosylation with intestinal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018292 obsolete congenital disorder of glycosylation-related bone disorder skos:exactMatch Orphanet:371195 Congenital disorder of glycosylation-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018293 obsolete congenital disorder of glycosylation with skin involvement skos:exactMatch Orphanet:371200 Congenital disorder of glycosylation with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018294 obsolete congenital disorder of glycosylation with nephropathy as a major feature skos:exactMatch Orphanet:371207 Congenital disorder of glycosylation with nephropathy as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018295 obsolete congenital disorder of glycosylation with deafness as a major feature skos:exactMatch Orphanet:371212 Congenital disorder of glycosylation with deafness as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018296 obsolete congenital disorder of glycosylation with developmental anomaly skos:exactMatch Orphanet:371235 Congenital disorder of glycosylation with developmental anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018299 obsolete sphingolipidosis with epilepsy skos:exactMatch Orphanet:371442 Sphingolipidosis with epilepsy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018318 obsolete disorder of asparagine metabolism skos:exactMatch Orphanet:391381 Disorder of asparagine metabolism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018329 obsolete persistent combined dystonia skos:exactMatch Orphanet:391711 Persistent combined dystonia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018377 obsolete rare hereditary disease with avascular necrosis skos:exactMatch Orphanet:399185 Rare hereditary disease with avascular necrosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018384 obsolete avascular necrosis of genetic origin skos:exactMatch Orphanet:399388 Avascular necrosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018385 obsolete osteochondrosis of genetic origin skos:exactMatch Orphanet:399391 Osteochondrosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018386 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018387 obsolete rare male infertility due to adrenal disorder skos:exactMatch Orphanet:399584 Rare male infertility due to adrenal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018388 obsolete rare male infertility due to testicular endocrine disorder skos:exactMatch Orphanet:399685 Rare male infertility due to testicular endocrine disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018389 obsolete male infertility due to gonadal dysgenesis or sperm disorder skos:exactMatch Orphanet:399764 Male infertility due to gonadal dysgenesis or sperm disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018390 obsolete male infertility due to sperm disorder skos:exactMatch Orphanet:399771 Male infertility due to sperm disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018391 obsolete male infertility with spermatogenesis disorder skos:exactMatch Orphanet:399775 Male infertility with spermatogenesis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018392 obsolete male infertility with spermatogenesis disorder due to single gene mutation skos:exactMatch Orphanet:399786 Male infertility with spermatogenesis disorder due to single gene mutation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018395 obsolete male infertility due to sperm motility disorder skos:exactMatch Orphanet:399813 Male infertility due to sperm motility disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018396 obsolete rare male fertility disorder with obstructive azoospermia skos:exactMatch Orphanet:399824 Rare disorder with obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018397 obsolete female infertility due to hypothalamic-pituitary-gonadal axis disorder skos:exactMatch Orphanet:399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018398 obsolete female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018400 obsolete rare female infertility due to an adrenal disorder skos:exactMatch Orphanet:399849 Rare female infertility due to an adrenal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018401 obsolete female infertility due to an anomaly of ovarian function skos:exactMatch Orphanet:399853 Rare female infertility due to an anomaly of ovarian function semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018402 obsolete female infertility due to gonadal dysgenesis skos:exactMatch Orphanet:399877 Rare female infertility due to gonadal dysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018403 obsolete female infertility due to an implantation defect skos:exactMatch Orphanet:399882 Rare female infertility due to an implantation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018404 obsolete rare genetic male infertility skos:exactMatch Orphanet:399980 Rare genetic male infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018405 obsolete rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018406 obsolete rare male infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:399994 Rare male infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018407 obsolete male infertility due to obstructive azoospermia of genetic origin skos:exactMatch Orphanet:399998 Male infertility due to obstructive azoospermia of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018409 obsolete rare genetic disorder with obstructive azoospermia skos:exactMatch Orphanet:400003 Rare genetic disorder with obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018410 obsolete rare genetic female infertility skos:exactMatch Orphanet:400008 Rare genetic female infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018411 obsolete rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin skos:exactMatch Orphanet:400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018412 obsolete rare female infertility due to adrenal disorder of genetic origin skos:exactMatch Orphanet:400018 Rare female infertility due to adrenal disorder of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018413 obsolete female infertility due to an anomaly of ovarian function of genetic origin skos:exactMatch Orphanet:400022 Rare female infertility due to an anomaly of ovarian function of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018414 obsolete female infertility due to an implantation defect of genetic origin skos:exactMatch Orphanet:400025 Female infertility due to an implantation defect of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018444 obsolete female infertility due to fertilization defect skos:exactMatch Orphanet:404469 Rare female infertility due to oocyte maturation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018451 obsolete X-linked distal hereditary motor neuropathy skos:exactMatch Orphanet:404538 X-linked distal hereditary motor neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018454 obsolete dysostosis of genetic origin skos:exactMatch Orphanet:404568 Dysostosis of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018455 obsolete dysostosis of genetic origin with limb anomaly as a major feature skos:exactMatch Orphanet:404571 Dysostosis of genetic origin with limb anomaly as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018457 obsolete rare genetic bone development disorder skos:exactMatch Orphanet:404584 Rare genetic bone development disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018488 obsolete rare genetic odontal or periodontal disorder skos:exactMatch Orphanet:420755 Rare genetic odontal or periodontal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018496 obsolete ARX-related encephalopathy-brain malformation spectrum skos:exactMatch Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018497 obsolete rare autonomic nervous system disorder skos:exactMatch Orphanet:423662 Rare autonomic nervous system disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018501 obsolete rare carcinoma of stomach skos:exactMatch Orphanet:423771 Rare carcinoma of stomach semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018520 obsolete rare epithelial tumor of pancreas skos:exactMatch Orphanet:424033 Rare epithelial tumor of pancreas semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018529 obsolete qualitative or quantitative defects of Torsin-1A-interacting protein 1 skos:exactMatch Orphanet:424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018538 obsolete inherited digestive cancer-predisposing syndrome skos:exactMatch Orphanet:425003 Inherited digestive cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018545 obsolete primary immunodeficiency with predisposition to severe viral infection skos:exactMatch Orphanet:431156 Primary immunodeficiency with predisposition to severe viral infection semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018549 obsolete late-onset scapuloperoneal muscular dystrophy with hyaline bodies skos:exactMatch Orphanet:431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018550 obsolete spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder skos:exactMatch Orphanet:431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018557 obsolete rare genetic autonomic nervous system disorder skos:exactMatch Orphanet:434786 Rare genetic autonomic nervous system disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018558 obsolete syndrome with wooly hair skos:exactMatch Orphanet:434809 Syndrome with woolly hair semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018562 obsolete hereditary otorhinolaryngological malformation skos:exactMatch Orphanet:435603 Genetic otorhinolaryngological malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018579 obsolete disorder of ketone body transport skos:exactMatch Orphanet:438072 Disorder of keton body transport semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018609 obsolete syndromic hereditary optic neuropathy skos:exactMatch Orphanet:441434 Syndromic hereditary optic neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018652 obsolete biological anomaly without phenotypic characterization skos:exactMatch Orphanet:447874 Biological anomaly without phenotypic characterization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018701 obsolete congenital nemaline myopathy skos:exactMatch Orphanet:457074 Congenital nemaline myopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies skos:exactMatch Orphanet:458830 Rare capillary malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018720 obsolete common cystic lymphatic malformation skos:exactMatch Orphanet:458833 Common cystic lymphatic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018721 obsolete rare combined vascular malformation skos:exactMatch Orphanet:458837 Rare combined vascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018723 obsolete rare vascular malformation of major vessels skos:exactMatch Orphanet:458844 Rare vascular malformation of major vessels semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018727 obsolete immunodeficiency due to a complement regulatory deficiency skos:exactMatch Orphanet:459348 Immunodeficiency due to a complement regulatory deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018728 obsolete rare genetic capillary malformation skos:exactMatch Orphanet:459526 Rare genetic capillary malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018729 obsolete genetic vascular tumor skos:exactMatch Orphanet:459543 Rare genetic vascular tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018730 obsolete rare genetic venous malformation skos:exactMatch Orphanet:459548 Rare genetic venous malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018731 obsolete lethal multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:459787 Lethal multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018743 obsolete immune-mediated acquired neuromuscular junction disease skos:exactMatch Orphanet:464764 Immune-mediated acquired neuromuscular junction disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018753 obsolete rare disease with malignant hyperthermia skos:exactMatch Orphanet:466658 Rare disease with malignant hyperthermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018771 obsolete congenital anomaly of ventricular septum skos:exactMatch Orphanet:474347 Rare congenital anomaly of ventricular septum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018775 obsolete axonal hereditary motor and sensory neuropathy skos:exactMatch Orphanet:476109 Axonal hereditary motor and sensory neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018779 obsolete hypercontractile muscle stiffness syndrome skos:exactMatch Orphanet:476403 Hypercontractile muscle stiffness syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018787 obsolete genetic cerebral small vessel disease skos:exactMatch Orphanet:477754 Genetic cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018788 obsolete COL4A1 or COL4A2-related cerebral small vessel disease skos:exactMatch Orphanet:477759 COL4A1 or COL4A2-related cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018789 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency skos:exactMatch Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018790 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency skos:exactMatch Orphanet:477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018791 obsolete Moyomoya angiopathy skos:exactMatch Orphanet:477768 Moyamoya angiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018792 obsolete Moyamoya syndrome skos:exactMatch Orphanet:477771 Rare disorder with a moyamoya angiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018796 obsolete isolated constitutional thrombocytopenia skos:exactMatch Orphanet:477797 Isolated constitutional thrombocytopenia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018797 obsolete genetic cardiac malformation skos:exactMatch Orphanet:477805 Genetic cardiac malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018798 obsolete other genetic dermis disorder skos:exactMatch Orphanet:477808 Other genetic dermis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018799 obsolete rare hypercholesterolemia skos:exactMatch Orphanet:477811 Rare hypercholesterolemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018831 obsolete HTRA1-related cerebral small vessel disease skos:exactMatch Orphanet:482072 HTRA1-related cerebral small vessel disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018833 obsolete rare idiopathic macular telangiectasia skos:exactMatch Orphanet:482092 Rare idiopathic macular telangiectasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018880 obsolete rare teratologic disease skos:exactMatch Orphanet:52662 Rare teratologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018928 obsolete rare hepatic disease skos:exactMatch Orphanet:57146 Rare hepatic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018972 obsolete rare epithelial tumor of stomach skos:exactMatch Orphanet:63443 Rare epithelial tumor of stomach semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0018984 Oroya fever skos:exactMatch Orphanet:659756 Oroya fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oroya fever LEXMATCH +MONDO:0019038 obsolete rare maxillo-facial surgical disease skos:exactMatch Orphanet:68329 Rare maxillo-facial surgical disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019039 obsolete rare hemorrhagic disorder due to a constitutional coagulation factors defect skos:exactMatch Orphanet:68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019041 obsolete rare genetic inherited tumor skos:exactMatch Orphanet:68336 Rare genetic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019043 obsolete rare genetic skin disease skos:exactMatch Orphanet:68346 Rare genetic skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019044 obsolete tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:68347 Tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019047 obsolete rare deafness skos:exactMatch Orphanet:68361 Rare deafness semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019048 obsolete rare vascular disease skos:exactMatch Orphanet:68362 Rare vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019049 obsolete rare dystonia skos:exactMatch Orphanet:68363 Rare dystonia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019058 obsolete neurometabolic disease skos:exactMatch Orphanet:68385 Neurometabolic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019059 obsolete rare parkinsonian disorder skos:exactMatch Orphanet:68402 Rare parkinsonian disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019061 obsolete rare parathyroid disease and phosphocalcic metabolism anomaly skos:exactMatch Orphanet:68415 Rare parathyroid disease and phosphocalcic metabolism anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019062 obsolete rare infectious disease skos:exactMatch Orphanet:68416 Rare infectious disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019063 obsolete vascular anomaly skos:exactMatch Orphanet:68419 Rare vascular anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019066 obsolete syndrome with brachydactyly skos:exactMatch Orphanet:69028 Dysostosis with brachydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019096 obsolete rare pulmonary hypertension skos:exactMatch Orphanet:71198 Rare pulmonary hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly skos:exactMatch Orphanet:71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019099 obsolete rare soft tissue tumor skos:exactMatch Orphanet:71209 Rare soft tissue tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019110 obsolete rare central nervous system or retinal vascular disease skos:exactMatch Orphanet:71281 Rare central nervous system and retinal vascular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019117 obsolete genetic nervous system disorder skos:exactMatch Orphanet:71859 Rare genetic neurological disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019183 obsolete inherited odontologic disease skos:exactMatch Orphanet:77830 Rare genetic odontologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019252 obsolete other metabolic disease with skin involvement skos:exactMatch Orphanet:79217 Other metabolic disease with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019271 obsolete acrokeratoderma skos:exactMatch Orphanet:79356 Acrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019274 obsolete other epidermal disorder skos:exactMatch Orphanet:79359 Other epidermal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019275 obsolete other genetic epidermal disease skos:exactMatch Orphanet:79360 Other genetic epidermal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019277 obsolete epidermal appendage anomaly skos:exactMatch Orphanet:79362 Epidermal appendage anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019281 obsolete isolated genetic hair shaft abnormality skos:exactMatch Orphanet:79366 Isolated hair shaft abnormality semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019282 obsolete syndromic hair shaft abnormality skos:exactMatch Orphanet:79367 Syndromic hair shaft abnormality semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019285 obsolete syndromic nail anomaly skos:exactMatch Orphanet:79370 Syndromic nail anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019286 obsolete sebaceous gland anomaly skos:exactMatch Orphanet:79372 Sebaceous gland anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019292 obsolete dermis elastic tissue disorder skos:exactMatch Orphanet:79378 Dermis elastic tissue disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019298 obsolete rare urticaria skos:exactMatch Orphanet:79384 Rare urticaria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019299 obsolete unclassified genetic skin disorder skos:exactMatch Orphanet:79385 Unclassified genetic skin disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019300 obsolete rare skin tumor or hamartoma skos:exactMatch Orphanet:79386 Rare skin tumor or hamartoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019301 obsolete metabolic disease with skin involvement skos:exactMatch Orphanet:79387 Metabolic disease with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019304 obsolete rare photodermatosis skos:exactMatch Orphanet:79390 Rare photodermatosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019305 obsolete immune deficiency with skin involvement skos:exactMatch Orphanet:79391 Immune deficiency with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019491 obsolete rare intellectual disability skos:exactMatch Orphanet:87277 Rare intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019513 obsolete esophageal malformation skos:exactMatch Orphanet:88993 Esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019515 obsolete rare dementia skos:exactMatch Orphanet:89043 Rare dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019519 obsolete rare skin disease skos:exactMatch Orphanet:89826 Rare skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019546 obsolete other acquired skin disease skos:exactMatch Orphanet:90077 Other acquired skin disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019590 obsolete rare endocrine growth disease skos:exactMatch Orphanet:90692 Rare endocrine growth disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019593 obsolete 46,XX disorder of sex development induced by fetal androgens excess skos:exactMatch Orphanet:90776 46,XX difference of sex development induced by fetal androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019599 obsolete primary lipodystrophy skos:exactMatch Orphanet:90970 Primary lipodystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019602 obsolete other inborn metabolic disease skos:exactMatch Orphanet:91088 Other metabolic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019608 obsolete 46,XX disorder of sex development induced by maternal-derived androgen skos:exactMatch Orphanet:91144 46,XX difference of sex development induced by maternal-derived androgen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019619 obsolete duplication of the esophagus skos:exactMatch Orphanet:91357 Duplication of the esophagus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019684 obsolete rare bone disease skos:exactMatch Orphanet:93419 Rare bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019688 obsolete sulfation-related bone disorder skos:exactMatch Orphanet:93423 Sulfation-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019692 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia skos:exactMatch Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019704 obsolete primary bone dysplasia with decreased bone density skos:exactMatch Orphanet:93446 Primary bone dysplasia with decreased bone density semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019705 obsolete primary bone dysplasia with defective bone mineralization skos:exactMatch Orphanet:93447 Primary bone dysplasia with defective bone mineralization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019709 obsolete cleidocranial dysplasia and isolated cranial ossification defect skos:exactMatch Orphanet:93451 Cleidocranial dysplasia and isolated cranial ossification defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019712 obsolete patellar dysostosis skos:exactMatch Orphanet:93455 Patellar dysostosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019714 obsolete non-syndromic polydactyly, syndactyly and/or hyperphalangy skos:exactMatch Orphanet:93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019717 obsolete chromosomal disease with overgrowth skos:exactMatch Orphanet:93461 Chromosomal disease with overgrowth semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019743 obsolete nephropathy secondary to a storage or other metabolic disease skos:exactMatch Orphanet:93593 Nephropathy secondary to a storage or other metabolic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019744 obsolete rare renal tubular disease skos:exactMatch Orphanet:93603 Rare renal tubular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019747 obsolete hematological disorder with renal involvement skos:exactMatch Orphanet:93614 Hematological disorder with renal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019748 obsolete rare cause of hypertension skos:exactMatch Orphanet:93618 Rare cause of hypertension semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019749 obsolete rare renal tumor skos:exactMatch Orphanet:93619 Rare renal tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019750 obsolete rare renal disease skos:exactMatch Orphanet:93626 Rare renal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019822 obsolete arterial duct anomaly skos:exactMatch Orphanet:95485 Arterial duct anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019827 obsolete disease associated with non-acquired combined pituitary hormone deficiency skos:exactMatch Orphanet:95495 Disease associated with non-acquired combined pituitary hormone deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019833 obsolete pituitary hormone deficiency from tumoral origin skos:exactMatch Orphanet:95503 Pituitary hormone deficiency of tumoral origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019834 obsolete pituitary hormone deficiency from meningeal origin skos:exactMatch Orphanet:95505 Pituitary hormone deficiency of meningeal origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019841 obsolete pituitary hormone defiency from vascular origin skos:exactMatch Orphanet:95611 Pituitary hormone deficiency of vascular origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019843 obsolete pituitary hormone deficiency secondary to a granulomatous disease skos:exactMatch Orphanet:95617 Pituitary hormone deficiency secondary to a granulomatous disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019844 obsolete pituitary hormone deficiency secondary to storage disease skos:exactMatch Orphanet:95618 Pituitary hormone deficiency secondary to storage disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019856 obsolete primary congenital hypothyroidism without thyroid developmental anomaly skos:exactMatch Orphanet:95714 Primary congenital hypothyroidism without thyroid developmental anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019859 obsolete congenital thyroid malformation without hypothyroidism skos:exactMatch Orphanet:95718 Congenital thyroid malformation without hypothyroidism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019936 obsolete rare otorhinolaryngological malformation skos:exactMatch Orphanet:96333 Rare otorhinolaryngological malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019937 obsolete rare gynecologic or obstetric disease skos:exactMatch Orphanet:96344 Rare gynecologic or obstetric disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019965 obsolete rare benign ovarian tumor skos:exactMatch Orphanet:97293 Rare benign ovarian tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019996 obsolete rare cardiac disease skos:exactMatch Orphanet:97929 Rare cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019997 obsolete rare gastroenterologic disease skos:exactMatch Orphanet:97935 Rare gastroenterologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0019998 obsolete gastroduodenal malformation skos:exactMatch Orphanet:97944 Gastroduodenal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020000 obsolete rare respiratory disease skos:exactMatch Orphanet:97955 Rare respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020002 obsolete rare surgical thoracic disease skos:exactMatch Orphanet:97962 Rare surgical thoracic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020003 obsolete rare surgical cardiac disease skos:exactMatch Orphanet:97965 Rare surgical cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020004 obsolete rare eye disease skos:exactMatch Orphanet:97966 Rare ophthalmic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020005 obsolete rare endocrine disease skos:exactMatch Orphanet:97978 Rare endocrine disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020008 obsolete rare immune disease skos:exactMatch Orphanet:98004 Rare immune disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020009 obsolete rare neurologic disease skos:exactMatch Orphanet:98006 Rare neurologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020011 obsolete rare headache disorder skos:exactMatch Orphanet:98022 Rare headache semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020013 obsolete rare odontologic disease skos:exactMatch Orphanet:98026 Rare odontologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020014 obsolete rare disease with odontological manifestation skos:exactMatch Orphanet:98027 Rare disease with odontological manifestation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020015 obsolete rare circulatory system disease skos:exactMatch Orphanet:98028 Rare circulatory system disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020016 obsolete rare neurologic disease with psychiatric involvement skos:exactMatch Orphanet:98033 Rare neurologic disease with psychiatric involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020017 obsolete rare otorhinolaryngologic disease skos:exactMatch Orphanet:98036 Rare otorhinolaryngologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020018 obsolete cranial malformation skos:exactMatch Orphanet:98038 Cranial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020019 obsolete digestive tract malformation skos:exactMatch Orphanet:98039 Digestive tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020020 obsolete visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:98041 Visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020021 obsolete diaphragmatic or abdominal wall malformation skos:exactMatch Orphanet:98043 Diaphragmatic or abdominal wall malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020023 obsolete respiratory or mediastinal malformation skos:exactMatch Orphanet:98045 Respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020024 obsolete rare infertility skos:exactMatch Orphanet:98047 Rare infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020025 obsolete rare male infertility skos:exactMatch Orphanet:98048 Rare male infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020026 obsolete rare female infertility skos:exactMatch Orphanet:98049 Rare female infertility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020027 obsolete rare allergic disease skos:exactMatch Orphanet:98050 Rare allergic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020028 obsolete rare allergic respiratory disease skos:exactMatch Orphanet:98052 Rare allergic respiratory disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020029 obsolete rare genetic cardiac disease skos:exactMatch Orphanet:98054 Rare genetic cardiac disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020030 obsolete rare genetic renal disease skos:exactMatch Orphanet:98056 Rare genetic renal disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020032 obsolete rare urinary tract tumor skos:exactMatch Orphanet:98058 Rare urinary tract tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020033 obsolete rare digestive tumor skos:exactMatch Orphanet:98059 Rare digestive tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020034 obsolete rare respiratory tract neoplasm skos:exactMatch Orphanet:98060 Rare respiratory tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020035 obsolete rare otorhinolaryngologic tumor skos:exactMatch Orphanet:98061 Rare otorhinolaryngologic tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020036 obsolete rare nervous system tumor skos:exactMatch Orphanet:98062 Rare nervous system tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020037 obsolete rare gynecological tumor skos:exactMatch Orphanet:98063 Rare gynecological tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020038 obsolete gonadal dysgenesis of gynecological interest skos:exactMatch Orphanet:98074 Gonadal dysgenesis of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020039 obsolete 46,XX disorder of sex development induced by androgens excess skos:exactMatch Orphanet:98078 46,XX difference of sex development induced by androgens excess semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020042 obsolete syndrome with 46,XY disorder of sex development skos:exactMatch Orphanet:98087 Syndrome with 46,XY difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020051 obsolete total autosomal trisomy skos:exactMatch Orphanet:98131 Total autosomal trisomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020052 obsolete partial autosomal trisomy/tetrasomy skos:exactMatch Orphanet:98132 Partial autosomal duplication/triplication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020053 obsolete total autosomal monosomy skos:exactMatch Orphanet:98141 Total autosomal monosomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020054 obsolete partial autosomal monosomy skos:exactMatch Orphanet:98142 Partial autosomal deletion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020055 obsolete autosomal uniparental disomy skos:exactMatch Orphanet:98152 Autosomal uniparental disomy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020059 obsolete gonosome number anomaly skos:exactMatch Orphanet:98156 Sex-chromosome number anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020060 obsolete gonosome structural anomaly skos:exactMatch Orphanet:98157 Sex-chromosome structural anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020062 obsolete chromosome X structural anomaly skos:exactMatch Orphanet:98159 Chromosome X structural anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020063 obsolete malformation syndrome with hamartosis skos:exactMatch Orphanet:98196 Malformation syndrome with hamartosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020069 obsolete chronic encephalitis skos:exactMatch Orphanet:98255 Chronic encephalitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020090 obsolete male infertility due to gonadal dysgenesis skos:exactMatch Orphanet:98313 Male infertility due to gonadal dysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020091 obsolete male infertility due to obstructive azoospermia skos:exactMatch Orphanet:98343 Male infertility due to obstructive azoospermia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020093 obsolete autosomal dominant isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98349 Autosomal dominant isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020094 obsolete autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020095 obsolete autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020096 obsolete autosomal recessive isolated diffuse palmoplantar keratoderma skos:exactMatch Orphanet:98356 Autosomal recessive isolated diffuse palmoplantar keratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020097 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature skos:exactMatch Orphanet:98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020098 obsolete constitutional anemia due to iron metabolism disorder skos:exactMatch Orphanet:98360 Constitutional anemia due to iron metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020100 obsolete rare hemolytic anemia skos:exactMatch Orphanet:98363 Rare hemolytic anemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020101 obsolete constitutional hemolytic anemia due to membrane defect skos:exactMatch Orphanet:98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020104 obsolete rare constitutional hemolytic anemia due to an enzyme disorder skos:exactMatch Orphanet:98369 Rare constitutional hemolytic anemia due to an enzyme disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020105 obsolete hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies skos:exactMatch Orphanet:98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020109 obsolete constitutional megaloblastic anemia due to vitamin B12 metabolism disorder skos:exactMatch Orphanet:98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020111 obsolete constitutional megaloblastic anemia due to folate metabolism disorder skos:exactMatch Orphanet:98408 Constitutional megaloblastic anemia due to folate metabolism disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020116 obsolete rare blood coagulation disease skos:exactMatch Orphanet:98429 Rare coagulation disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020125 obsolete acquired neuromuscular junction disease skos:exactMatch Orphanet:98494 Acquired neuromuscular junction disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020126 obsolete rare peripheral neuropathy skos:exactMatch Orphanet:98496 Rare peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020130 obsolete malformation of the cerebellar vermis skos:exactMatch Orphanet:98514 Malformation of the cerebellar vermis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020131 obsolete malformation of the cerebellar hemispheres skos:exactMatch Orphanet:98516 Malformation of the cerebellar hemispheres semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020132 obsolete cranial nerve and nuclear aplasia skos:exactMatch Orphanet:98518 Cranial nerve and nuclear aplasia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020133 obsolete posterior fossa malformation skos:exactMatch Orphanet:98519 Posterior fossa malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020136 obsolete neurodegenerative disease with dementia skos:exactMatch Orphanet:98534 Neurodegenerative disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020137 obsolete frontotemporal degeneration with dementia skos:exactMatch Orphanet:98535 Frontotemporal degeneration with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020138 obsolete ataxia with dementia skos:exactMatch Orphanet:98538 Ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020139 obsolete early-onset ataxia with dementia skos:exactMatch Orphanet:98539 Early-onset ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020140 obsolete late-onset ataxia with dementia skos:exactMatch Orphanet:98540 Late-onset ataxia with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020141 obsolete infectious disease with dementia skos:exactMatch Orphanet:98542 Infectious disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020142 obsolete metabolic disease with dementia skos:exactMatch Orphanet:98543 Metabolic disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020144 obsolete cerebrovascular dementia skos:exactMatch Orphanet:98549 Rare cerebrovascular dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020148 obsolete syndromic aniridia skos:exactMatch Orphanet:98557 Syndromic aniridia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020151 obsolete rare palpebral disease skos:exactMatch Orphanet:98560 Rare palpebral disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020152 obsolete rare eyelid malformation skos:exactMatch Orphanet:98561 Congenital malformation of the eyelid semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020154 obsolete microblepharon-ablephara syndrome skos:exactMatch Orphanet:98563 Microblepharon-ablephara syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020155 obsolete eyelid border anomaly skos:exactMatch Orphanet:98564 Eyelid border anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020156 obsolete syndromic ankyloblepharon skos:exactMatch Orphanet:98565 Syndromic ankyloblepharon filiforme adnatum semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020157 obsolete syndromic palpebral coloboma skos:exactMatch Orphanet:98566 Syndromic eyelid coloboma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020158 obsolete eyelids malposition disorder skos:exactMatch Orphanet:98567 Rare eyelid malposition disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020162 obsolete secondary ectropion skos:exactMatch Orphanet:98571 Secondary ectropion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020165 obsolete syndromic epicanthus skos:exactMatch Orphanet:98574 Syndromic epicanthus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020167 obsolete malposition of external canthus skos:exactMatch Orphanet:98576 Syndromic outer canthal malposition semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020184 obsolete rare eyebrow/eyelashes anomaly skos:exactMatch Orphanet:98594 Rare eyebrow/eyelash disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020192 obsolete rare lacrimal system disease skos:exactMatch Orphanet:98602 Rare disorder of the lacrimal apparatus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020195 obsolete excretory apparatus of the lacrimal system anomaly skos:exactMatch Orphanet:98605 Lacrimal drainage system anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020197 obsolete EEC syndrome and related syndrome skos:exactMatch Orphanet:98609 EEC syndrome and related disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020198 obsolete rare conjunctival disease skos:exactMatch Orphanet:98610 Rare disorder with conjunctival involvement as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020206 obsolete rare refraction anomaly skos:exactMatch Orphanet:98618 Rare refraction anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020209 obsolete rare hyperopia and astigmatism skos:exactMatch Orphanet:98621 Rare hyperopia and astigmatism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020210 obsolete syndromic hyperopia skos:exactMatch Orphanet:98622 Syndromic hyperopia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020211 obsolete syndromic keratoconus skos:exactMatch Orphanet:98623 Syndromic keratoconus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020216 obsolete secondary dysgenetic glaucoma skos:exactMatch Orphanet:98631 Congenital malformation of the eye with glaucoma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020219 obsolete corneogoniodysgenesis skos:exactMatch Orphanet:98635 Corneodysgenesis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020222 obsolete rare disease with glaucoma as a major feature skos:exactMatch Orphanet:98638 Rare disease with glaucoma as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020223 obsolete lens and zonula anomaly skos:exactMatch Orphanet:98639 Rare lens disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020224 obsolete rare cataract skos:exactMatch Orphanet:98640 Rare disorder with lens opacification semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020225 obsolete syndromic cataract skos:exactMatch Orphanet:98641 Syndromic cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020226 obsolete chromosomal anomaly with cataract skos:exactMatch Orphanet:98642 Chromosomal anomaly with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020228 obsolete cataract associated with a metabolic disease skos:exactMatch Orphanet:98644 Metabolic disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020230 obsolete renal disease with cataract skos:exactMatch Orphanet:98646 Renal disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020232 obsolete musculoskeletal disease with cataract skos:exactMatch Orphanet:98648 Musculoskeletal disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020233 obsolete dentocutaneous disease with cataract skos:exactMatch Orphanet:98649 Dentocutaneous disease with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020234 obsolete craniofacial anomaly with cataract skos:exactMatch Orphanet:98650 Craniofacial anomaly with cataract semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020235 obsolete lens size anomaly skos:exactMatch Orphanet:98652 Lens size anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020236 obsolete lens position anomaly skos:exactMatch Orphanet:98653 Lens position anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020237 obsolete lens shape anomaly skos:exactMatch Orphanet:98655 Lens shape anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020240 obsolete syndromic retinitis pigmentosa skos:exactMatch Orphanet:98661 Syndromic rod-cone dystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020251 obsolete rare strabismus and restriction syndrome skos:exactMatch Orphanet:98681 Rare disorder with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020253 obsolete syndrome with a symptomatic strabismus skos:exactMatch Orphanet:98683 Syndromic disorder with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020254 obsolete craniostenosis associated with a strabismus skos:exactMatch Orphanet:98684 Craniostenosis with strabismus semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020284 obsolete heart position anomaly skos:exactMatch Orphanet:98716 Heart position anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020285 obsolete transposition of the great arteries and conotruncal cardiac anomaly skos:exactMatch Orphanet:98717 Transposition of the great arteries and conotruncal cardiac anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020286 obsolete aortic malformation skos:exactMatch Orphanet:98718 Aortic malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020287 obsolete pulmonary artery or pulmonary branch anomaly skos:exactMatch Orphanet:98719 Pulmonary artery or pulmonary branch anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020288 obsolete atrioventricular valve anomaly skos:exactMatch Orphanet:98720 Atrioventricular valve anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020293 obsolete ascending aorta anomaly skos:exactMatch Orphanet:98725 Ascending aorta anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020294 obsolete atrial defect and interatrial communication skos:exactMatch Orphanet:98727 Rare atrial defect and interatrial communication semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020313 obsolete unclassified myelodysplastic/myeloproliferative disease skos:exactMatch Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020339 obsolete X-linked complex spastic paraplegia skos:exactMatch Orphanet:98888 X-linked complex spastic paraplegia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020343 obsolete alpha-crystallinopathy skos:exactMatch Orphanet:98910 Alpha-crystallinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0020999 obsolete genetic chronic primary adrenal insufficiency skos:exactMatch Orphanet:101960 Genetic chronic primary adrenal insufficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0021027 obsolete genetic hair anomaly skos:exactMatch Orphanet:183450 Genetic hair anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0021028 obsolete genetic nail anomaly skos:exactMatch Orphanet:183454 Genetic nail anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0021034 obsolete hereditary alopecia skos:exactMatch Orphanet:481771 Genetic alopecia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0021037 obsolete genetic neurodegenerative disease with dementia skos:exactMatch Orphanet:276058 Genetic neurodegenerative disease with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0021169 epithelioid hemangioma skos:exactMatch Orphanet:675396 Epithelioid hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelioid hemangioma LEXMATCH +MONDO:0021198 obsolete rare genetic disease skos:exactMatch Orphanet:98053 Rare genetic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0022397 obsolete retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene skos:exactMatch Orphanet:156168 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0022400 obsolete retinal ciliopathy due to mutation in the RPGRIP gene skos:exactMatch Orphanet:156174 Retinal ciliopathy due to mutation in the RPGRIP gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0022404 obsolete retinal ciliopathy due to mutation in Usher gene skos:exactMatch Orphanet:156177 Retinal ciliopathy due to mutation in Usher gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0022405 obsolete retinal ciliopathy due to mutation in nephronophthisis gene skos:exactMatch Orphanet:156180 Retinal ciliopathy due to mutation in nephronophthisis gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0022407 obsolete retinal ciliopathy due to mutation in Bardet-Biedl gene skos:exactMatch Orphanet:156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0022409 obsolete nephropathy-associated ciliopathy skos:exactMatch Orphanet:156162 Renal ciliopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024145 obsolete Pierre Robin syndrome associated with collagen disease skos:exactMatch Orphanet:138041 Pierre Robin syndrome associated with collagen disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024147 obsolete Pierre Robin syndrome associated with a chromosomal anomaly skos:exactMatch Orphanet:138047 Pierre Robin syndrome associated with a chromosomal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024148 obsolete Pierre Robin syndrome associated with branchial archs anomalies skos:exactMatch Orphanet:138050 Pierre Robin syndrome associated with branchial archs anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024149 obsolete Pierre Robin syndrome associated with bone disease skos:exactMatch Orphanet:138055 Pierre Robin syndrome associated with bone disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024471 obsolete non-inflammatory vasculopathy skos:exactMatch Orphanet:496924 Non-inflammatory vasculopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024987 obsolete genetic urogenital tract malformation skos:exactMatch Orphanet:156622 Genetic urogenital tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0025511 obsolete inherited neuroendocrine tumor skos:exactMatch Orphanet:271847 Genetic neuroendocrine tumor semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026141 obsolete genetic urticaria skos:exactMatch Orphanet:182734 Genetic urticaria semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026150 obsolete genetic erythrokeratoderma skos:exactMatch Orphanet:183438 Genetic erythrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026151 obsolete genetic acrokeratoderma skos:exactMatch Orphanet:183441 Genetic acrokeratoderma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026152 obsolete genetic porokeratosis skos:exactMatch Orphanet:183444 Genetic porokeratosis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026157 obsolete genetic pigmentation anomaly of the skin skos:exactMatch Orphanet:183463 Genetic pigmentation anomaly of the skin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026160 obsolete genetic dermis disorder skos:exactMatch Orphanet:183472 Genetic dermis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026166 obsolete genetic immune deficiency with skin involvement skos:exactMatch Orphanet:183494 Genetic immune deficiency with skin involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026167 obsolete genetic neuromuscular disease skos:exactMatch Orphanet:183497 Genetic neuromuscular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026170 obsolete genetic central nervous system malformation skos:exactMatch Orphanet:183506 Genetic central nervous system malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026173 obsolete rare genetic medullar disease skos:exactMatch Orphanet:183515 Rare genetic medullar disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026180 obsolete genetic congenital limb malformation skos:exactMatch Orphanet:183536 Genetic congenital limb malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026181 obsolete genetic renal or urinary tract malformation skos:exactMatch Orphanet:183539 Genetic renal or urinary tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026182 obsolete genetic cranial malformation skos:exactMatch Orphanet:183542 Genetic cranial malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026183 obsolete genetic digestive tract malformation skos:exactMatch Orphanet:183545 Genetic digestive tract malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026184 obsolete genetic visceral malformation of the liver, biliary tract, pancreas or spleen skos:exactMatch Orphanet:183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026185 obsolete genetic respiratory or mediastinal malformation skos:exactMatch Orphanet:183554 Genetic respiratory or mediastinal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026186 obsolete genetic developmental defect of the eye skos:exactMatch Orphanet:183557 Genetic developmental defect of the eye semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026187 obsolete genetic malformation syndrome with short stature skos:exactMatch Orphanet:183570 Genetic malformation syndrome with short stature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026188 obsolete genetic overgrowth/obesity syndrome skos:exactMatch Orphanet:183573 Genetic overgrowth/obesity syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026189 obsolete genetic branchial arch or oral-acral syndrome skos:exactMatch Orphanet:183576 Genetic branchial arch or oral-acral syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026190 obsolete genetic malformation syndrome with odontal and/or periodontal component skos:exactMatch Orphanet:183580 Genetic malformation syndrome with odontal and/or periodontal component semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026192 obsolete genetic glomerular disease skos:exactMatch Orphanet:183586 Genetic glomerular disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026193 obsolete genetic thrombotic microangiopathy skos:exactMatch Orphanet:183589 Genetic thrombotic microangiopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026203 obsolete genetic respiratory malformation skos:exactMatch Orphanet:183622 Genetic respiratory malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0026209 obsolete genetic polyendocrinopathy skos:exactMatch Orphanet:183643 Genetic polyendocrinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027652 5-fluorouracil toxicity skos:exactMatch Orphanet:240839 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027653 abacavir toxicity skos:exactMatch Orphanet:240841 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027655 allopurinol toxicity skos:exactMatch Orphanet:240845 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027664 cisplatin toxicity skos:exactMatch Orphanet:240863 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027666 codeine toxicity skos:exactMatch Orphanet:240867 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027667 efavirenz toxicity skos:exactMatch Orphanet:240869 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027668 flucloxacilline toxicity skos:exactMatch Orphanet:240871 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027675 irinotecan toxicity skos:exactMatch Orphanet:240885 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027677 isoniazid toxicity skos:exactMatch Orphanet:240887 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027687 raltegravir toxicity skos:exactMatch Orphanet:240905 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027696 voriconazole toxicity skos:exactMatch Orphanet:240921 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027750 obsolete serpinopathy with toxic serpin polymerization skos:exactMatch Orphanet:250808 Serpinopathy with toxic serpin polymerization semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027751 obsolete serpinopathy with loss of serpin function skos:exactMatch Orphanet:250811 Serpinopathy with loss of serpin function semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0027929 obsolete genetic polycythemia skos:exactMatch Orphanet:250165 Genetic polycythemia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0028569 obsolete genetic interstitial lung disease skos:exactMatch Orphanet:264992 Genetic interstitial lung disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0028618 obsolete gastroenteric neuroendocrine neoplasm skos:exactMatch Orphanet:481508 Gastroenteric neuroendocrine neoplasm semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0028737 obsolete biliary atresia disorder skos:exactMatch Orphanet:498345 Biliary atresia and associated disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0028795 obsolete rare genetic systemic or rheumatologic disease skos:exactMatch Orphanet:271870 Rare genetic systemic or rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0028868 obsolete genetic frontotemporal degeneration with dementia skos:exactMatch Orphanet:276061 Genetic frontotemporal degeneration with dementia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0029014 obsolete rare systemic or rheumatological disease of childhood skos:exactMatch Orphanet:280342 Rare systemic or rheumatological disease of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0029102 obsolete autosomal ichthyosis syndrome with other associated signs skos:exactMatch Orphanet:281244 Autosomal ichthyosis syndrome with other associated signs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0029810 obsolete laminopathy with striated muscle involvement skos:exactMatch Orphanet:300755 Laminopathy with striated muscle involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0029811 obsolete laminopathy with peripheral neuropathy skos:exactMatch Orphanet:300758 Laminopathy with peripheral neuropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0029812 obsolete laminopathy with lipodystrophy skos:exactMatch Orphanet:300763 Laminopathy with lipodystrophy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0029813 obsolete laminopathy with premature aging skos:exactMatch Orphanet:300766 Laminopathy with premature aging semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0030048 harderoporphyria skos:exactMatch Orphanet:659672 Harderoporphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label harderoporphyria LEXMATCH +MONDO:0030767 obsolete genetic tumor of hematopoietic and lymphoid tissues skos:exactMatch Orphanet:322126 Genetic tumor of hematopoietic and lymphoid tissues semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031004 obsolete genetic disorder of sex development of gynecological interest skos:exactMatch Orphanet:325665 Genetic difference of sex development of gynecological interest semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031016 obsolete genetic disorder of sex development skos:exactMatch Orphanet:325690 Genetic difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031689 obsolete genetic progeroid syndrome skos:exactMatch Orphanet:363245 Genetic progeroid syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031697 obsolete genetic intractable diarrhea of infancy skos:exactMatch Orphanet:363300 Genetic intractable diarrhea of infancy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031698 obsolete genetic intestinal disease due to fat malabsorption skos:exactMatch Orphanet:363306 Genetic intestinal disease due to fat malabsorption semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031949 obsolete genetic neurovascular malformation skos:exactMatch Orphanet:371436 Genetic neurovascular malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0031952 obsolete genetic syndromic esophageal malformation skos:exactMatch Orphanet:371445 Genetic syndromic esophageal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0032011 obsolete biological anomaly skos:exactMatch Orphanet:377790 Biological anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0032013 obsolete clinical syndrome skos:exactMatch Orphanet:377792 Clinical syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0032014 obsolete particular clinical situation in a disease or syndrome skos:exactMatch Orphanet:377793 Particular clinical situation in a disease or syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0032221 obsolete rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism skos:exactMatch Orphanet:399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0032886 Liang-Wang syndrome skos:exactMatch Orphanet:664438 Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym liang-wang syndrome LEXMATCH +MONDO:0032916 Imagawa-Matsumoto syndrome skos:exactMatch Orphanet:659463 Imagawa-Matsumoto syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label imagawa-matsumoto syndrome LEXMATCH +MONDO:0033056 obsolete genetic facial cleft skos:exactMatch Orphanet:414726 Genetic facial cleft semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033169 curariform drugs toxicity skos:exactMatch Orphanet:413693 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033170 statin toxicity skos:exactMatch Orphanet:413696 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033181 phenytoin or carbamazepine toxicity skos:exactMatch Orphanet:414750 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033329 obsolete genetic precocious puberty skos:exactMatch Orphanet:435554 Genetic precocious puberty semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033331 obsolete genetic precocious puberty in female skos:exactMatch Orphanet:435564 Genetic precocious puberty in female semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033334 obsolete genetic nose and cavum anomaly skos:exactMatch Orphanet:435606 Genetic nose and cavum anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033335 obsolete genetic larynx anomaly skos:exactMatch Orphanet:435609 Genetic larynx anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033336 obsolete genetic tracheal anomaly skos:exactMatch Orphanet:435612 Genetic tracheal anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0033927 obsolete genetic complex vascular malformation with associated anomalies skos:exactMatch Orphanet:459537 Genetic complex vascular malformation with associated anomalies semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034039 obsolete genetic hemoglobinopathy skos:exactMatch Orphanet:466066 Genetic hemoglobinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034443 obsolete genetic non-acquired premature ovarian failure skos:exactMatch Orphanet:485382 Rare genetic premature ovarian failure semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034641 obsolete rare genetic hyperkinetic movement disorder skos:exactMatch Orphanet:496916 Rare genetic hyperkinetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034661 obsolete syndromic biliary atresia skos:exactMatch Orphanet:498350 Syndromic biliary atresia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034667 obsolete longitudinal limb defect skos:exactMatch Orphanet:498457 Non-syndromic longitudinal limb defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034668 obsolete terminal transverse limb defect skos:exactMatch Orphanet:498461 Non-syndromic terminal transverse limb defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034669 obsolete non-syndromic preaxial polydactyly skos:exactMatch Orphanet:498464 Non-syndromic preaxial polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034670 obsolete non-syndromic postaxial polydactyly skos:exactMatch Orphanet:498467 Non-syndromic postaxial polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034671 obsolete non-syndromic complex polydactyly skos:exactMatch Orphanet:498470 Non-syndromic complex polydactyly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034733 obsolete cochlear nerve deficiency skos:exactMatch Orphanet:502318 Cochlear nerve deficiency semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034901 obsolete ATP13A2-related parkinsonism skos:exactMatch Orphanet:514980 ATP13A2-related parkinsonism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034923 obsolete inflammatory/autoimmune disorder involving the lacrimal system skos:exactMatch Orphanet:519264 Inflammatory/autoimmune disorder involving the lacrimal system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034926 obsolete rare disorder with entropion skos:exactMatch Orphanet:519270 Rare disorder with entropion semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034931 obsolete rare conjunctivitis skos:exactMatch Orphanet:519280 Rare conjunctivitis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034937 obsolete syndromic ectopia lentis skos:exactMatch Orphanet:519292 Syndromic ectopia lentis semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034943 obsolete isolated vitreoretinopathy skos:exactMatch Orphanet:519304 Isolated vitreoretinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034953 obsolete syndromic inherited retinal disorder skos:exactMatch Orphanet:519325 Syndromic inherited retinal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034954 obsolete syndromic vitreoretinopathy skos:exactMatch Orphanet:519327 Syndromic vitreoretinopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034961 obsolete rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature skos:exactMatch Orphanet:519341 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034962 obsolete rare ophthalmic disorder with cortical involvement skos:exactMatch Orphanet:519343 Rare ophthalmic disorder with cortical involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034965 obsolete rare ophthalmic disorder with cranial nerve involvement skos:exactMatch Orphanet:519349 Rare ophthalmic disorder with cranial nerve involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034968 obsolete rare ocular motility/alignment disorder skos:exactMatch Orphanet:519355 Rare ocular motility/alignment disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0034977 obsolete isolated microspherophakia skos:exactMatch Orphanet:519396 Isolated microspherophakia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035001 obsolete rare disorder of the visual organs skos:exactMatch Orphanet:520814 Rare disorder of the visual organs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035002 obsolete isolated inherited retinal disorder skos:exactMatch Orphanet:520817 Isolated inherited retinal disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035013 obsolete genetic primary orthostatic disorder skos:exactMatch Orphanet:521232 Genetic primary orthostatic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035014 obsolete primary orthostatic disorder skos:exactMatch Orphanet:521236 Primary orthostatic disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035037 obsolete rare genetic disorder of the visual organs skos:exactMatch Orphanet:522504 Rare genetic disorder of the visual organs semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035075 obsolete secondary early-onset glaucoma of genetic origin skos:exactMatch Orphanet:522580 Secondary early-onset glaucoma of genetic origin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035162 obsolete PIK3CA-related overgrowth syndrome skos:exactMatch Orphanet:530313 PIK3CA-related overgrowth syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035274 obsolete anomaly of the coronary ostia skos:exactMatch Orphanet:542822 Anomaly of the coronary ostia semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035328 obsolete rare disorder due to poisoning skos:exactMatch Orphanet:556508 Rare disorder due to poisoning semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035426 obsolete rare disorder potentially indicated for transplant or complication after transplantation skos:exactMatch Orphanet:565779 Rare disorder potentially indicated for transplant or complication after transplantation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035469 obsolete primary lymphedema without systemic or visceral involvement skos:exactMatch Orphanet:568041 Primary lymphedema without systemic or visceral involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035470 obsolete primary lymphedema with systemic or visceral involvement skos:exactMatch Orphanet:568044 Primary lymphedema with systemic or visceral involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035471 obsolete disorder with multisystemic involvement and primary lymphedema skos:exactMatch Orphanet:568047 Disorder with multisystemic involvement and primary lymphedema semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035561 obsolete sporadic human prion disease skos:exactMatch Orphanet:576356 Sporadic human prion disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035645 obsolete inherited gynecological cancer-predisposing syndrome skos:exactMatch Orphanet:589746 Inherited gynecological cancer-predisposing syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035682 obsolete fibrous dysplasia/McCune-Albright syndrome skos:exactMatch Orphanet:595216 Fibrous dysplasia/McCune-Albright syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035684 obsolete epidermolysis bullosa simplex without extracutaneous involvement skos:exactMatch Orphanet:595346 Epidermolysis bullosa simplex without extracutaneous involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035685 obsolete epidermolysis bullosa simplex with extracutaneous involvement skos:exactMatch Orphanet:595351 Epidermolysis bullosa simplex with extracutaneous involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035689 obsolete syndrome of reduced sensitivity to thyroid hormone skos:exactMatch Orphanet:596426 Syndrome of reduced sensitivity to thyroid hormone semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035786 obsolete non-syndromic cloacal malformation skos:exactMatch Orphanet:600998 Non-syndromic cloacal malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035862 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035863 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability skos:exactMatch Orphanet:611327 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035875 ivermectin toxicity skos:exactMatch Orphanet:574637 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0035876 belinostat toxicity or dose selection skos:exactMatch Orphanet:574671 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0036025 toxicity to dolutegravir skos:exactMatch Orphanet:596744 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0037716 obsolete rare genetic deafness skos:exactMatch Orphanet:96210 Rare genetic deafness semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0037860 obsolete rare systemic or rheumatologic disease skos:exactMatch Orphanet:98023 Rare systemic or rheumatologic disease semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0038261 obsolete genetic neurological channelopathy of the central nervous system skos:exactMatch Orphanet:98743 Genetic neurological channelopathy of the central nervous system semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0038268 obsolete autoimmune neurological channelopathy skos:exactMatch Orphanet:98750 Autoimmune neurological channelopathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0043005 obsolete genetic multiple congenital anomalies/dysmorphic syndrome skos:exactMatch Orphanet:183533 Genetic multiple congenital anomalies/dysmorphic syndrome semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0043008 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability skos:exactMatch Orphanet:330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0043349 intravascular papillary endothelial hyperplasia skos:exactMatch Orphanet:673525 Intravascular papillary endothelial hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intravascular papillary endothelial hyperplasia LEXMATCH +MONDO:0043361 May-Thurner syndrome skos:exactMatch Orphanet:675404 May-Thurner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label may-thurner syndrome LEXMATCH +MONDO:0044636 obsolete rare hyperkinetic movement disorder skos:exactMatch Orphanet:494457 Rare hyperkinetic movement disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0044655 obsolete c12orf65-related combined oxidative phosphorylation defect skos:exactMatch Orphanet:497623 C12ORF65-related combined oxidative phosphorylation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0060510 Cohen-Gibson syndrome skos:exactMatch Orphanet:659396 Cohen-Gibson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cohen-gibson syndrome LEXMATCH +MONDO:0800084 obsolete primary bone dysplasia with increased bone density skos:exactMatch Orphanet:93444 Primary bone dysplasia with increased bone density semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800087 obsolete type 11 collagen-related bone disorder skos:exactMatch Orphanet:93422 Type 11 collagen-related bone disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800089 obsolete primary bone dysplasia with disorganized development of skeletal components skos:exactMatch Orphanet:93450 Primary bone dysplasia with disorganized development of skeletal components semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800090 obsolete ectrodactyly with and without other manifestations skos:exactMatch Orphanet:498477 Ectrodactyly with and without other manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800091 obsolete overgrowth or tall stature syndrome with skeletal involvement skos:exactMatch Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800092 obsolete hereditary inflammatory or rheumatoid-like osteoarthropathy skos:exactMatch Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800093 obsolete dysostosis with brachydactyly without extraskeletal manifestations skos:exactMatch Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800094 obsolete dysostosis with brachydactyly with extraskeletal manifestations skos:exactMatch Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800095 obsolete syndrome with synostosis or other joint formation defect skos:exactMatch Orphanet:93459 Syndrome with synostosis or other joint formation defect semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0800478 trigeminal trophic syndrome skos:exactMatch Orphanet:664901 Trigeminal trophic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigeminal trophic syndrome LEXMATCH +MONDO:0850112 breast implant-associated anaplastic large cell lymphoma skos:exactMatch Orphanet:667662 Breast implant-associated anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label breast implant-associated anaplastic large cell lymphoma LEXMATCH +MONDO:0859143 Radio-Tartaglia syndrome skos:exactMatch Orphanet:662234 Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spen-related neurodevelopmental disorder LEXMATCH +MONDO:0859143 Radio-Tartaglia syndrome skos:exactMatch Orphanet:662234 Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym radio-tartaglia syndrome LEXMATCH +MONDO:0859147 Marbach-Rustad progeroid syndrome skos:exactMatch Orphanet:659873 Wormian bones-micrognathia-abnormal dentition-progeroid syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym marbach-rustad progeroid syndrome LEXMATCH +MONDO:0859219 Rauch-Steindl syndrome skos:exactMatch Orphanet:659642 Rauch-Steindl syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rauch-steindl syndrome LEXMATCH +MONDO:0859301 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects skos:exactMatch Orphanet:662207 Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects LEXMATCH +MONDO:0957001 obsolete hereditary mixed dermis disorder skos:exactMatch Orphanet:183481 Genetic mixed dermis disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0957009 obsolete hereditary posterior fossa malformation skos:exactMatch Orphanet:269557 Genetic posterior fossa malformation semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0957024 obsolete hereditary 46,XX disorder of sex development skos:exactMatch Orphanet:325697 Genetic 46,XX difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0957025 obsolete hereditary 46,XY disorder of sex development skos:exactMatch Orphanet:325706 Genetic 46,XY difference of sex development semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0957404 obsolete pyogenic autoinflammatory syndrome of childhood skos:exactMatch Orphanet:324942 Pyogenic autoinflammatory syndrome of childhood semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:8000030 obsolete morphological anomaly skos:exactMatch Orphanet:377791 Morphological anomaly semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:8000031 obsolete subtype of a disorder skos:exactMatch Orphanet:557494 subtype of a disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:8000033 obsolete group of disorders skos:exactMatch Orphanet:557492 group of disorders semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/unmapped_doid_lex.tsv b/src/ontology/lexmatch/unmapped_doid_lex.tsv index 351130f2..472fa815 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex.tsv @@ -1,23 +1,23 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source +MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation DOID:0081461 MONDO:equivalentTo thyroid gland spindle epithelial tumor with thymus-like elements semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym settle +MONDO:0006466 thyroid gland spindle cell tumor with thymus-like differentiation DOID:0081461 MONDO:equivalentTo thyroid gland spindle epithelial tumor with thymus-like elements semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym thyroid gland spindle cell tumor with thymus-like differentiation MONDO:0006879 optic papillitis DOID:146 MONDO:equivalentTo papilledema semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label papilledema -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria DOID:0070541 MONDO:equivalentTo 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c538324 -MONDO:0009520 3-hydroxy-3-methylglutaric aciduria DOID:0070541 MONDO:equivalentTo 3-hydroxy-3-methylglutaryl-CoA lyase deficiency semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:246450 -MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency DOID:0060949 MONDO:equivalentTo 3-hydroxyisobutryl-CoA hydrolase deficiency semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:250620 -MONDO:0009642 orofaciodigital syndrome type II DOID:0060959 MONDO:equivalentTo orofaciodigital syndrome II semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:252100 +MONDO:0007758 epidermolytic palmoplantar keratoderma, 1 DOID:0070552 MONDO:equivalentTo epidermolytic palmoplantar keratoderma 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:144200 +MONDO:0007860 focal palmoplantar and gingival keratoderma DOID:0070553 MONDO:equivalentTo focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c536157 +MONDO:0007860 focal palmoplantar and gingival keratoderma DOID:0070553 MONDO:equivalentTo focal palmoplantar and gingival keratosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:148730 MONDO:0009669 spinal muscular atrophy, type 1 DOID:0060160 MONDO:equivalentTo childhood spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym survival motor neuron spinal muscular atrophy -MONDO:0010225 Dent disease type 1 DOID:0081453 MONDO:equivalentTo Dent disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:300009 -MONDO:0010359 Dent disease type 2 DOID:0081454 MONDO:equivalentTo Dent disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:300555 -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency DOID:0070544 MONDO:equivalentTo congenital glutamine deficiency semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610015 -MONDO:0014413 orofaciodigital syndrome type 14 DOID:0060958 MONDO:equivalentTo orofaciodigital syndrome XIV semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615948 -MONDO:0014567 glutamate pyruvate transaminase 2 deficiency DOID:0070542 MONDO:equivalentTo neurodevelopmental disorder with spastic paraplegia and microcephaly semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616281 +MONDO:0010962 diffuse nonepidermolytic palmoplantar keratoderma DOID:0070550 MONDO:equivalentTo KRT1-related nonepidermolytic palmoplantar keratoderma semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:600962 +MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 DOID:0070547 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c566472 +MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 DOID:0070547 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610475 +MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 DOID:0070546 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:c566469 +MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 DOID:0070546 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610489 +MONDO:0013616 pigmented nodular adrenocortical disease, primary, 3 DOID:0070548 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 3 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614190 +MONDO:0014272 palmoplantar keratoderma, Nagashima type DOID:0070555 MONDO:equivalentTo Nagashima-type palmoplantar keratosis semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615598 +MONDO:0014359 pigmented nodular adrenocortical disease, primary, 4 DOID:0070549 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615830 +MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome DOID:0070554 MONDO:equivalentTo palmoplantar keratoderma and woolly hair semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616099 MONDO:0020796 Silver-Russell syndrome 1 DOID:14681 MONDO:equivalentTo Silver-Russell syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:180860 -MONDO:0030064 episodic ataxia, type 9 DOID:0060965 MONDO:equivalentTo episodic ataxia type 9 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618924 -MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy DOID:0060961 MONDO:equivalentTo orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym oral-facial-digital syndrome type 18 -MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy DOID:0060961 MONDO:equivalentTo orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym orofaciodigital syndrome type 18 -MONDO:0034823 oral-facial-digital syndrome with short stature and brachymesophalangy DOID:0060961 MONDO:equivalentTo orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym oral-facial-digital syndrome with short stature and brachymesophalangy -MONDO:0054770 orofaciodigital syndrome 18 DOID:0060961 MONDO:equivalentTo orofaciodigital syndrome XVIII semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617927 -MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease DOID:0060951 MONDO:equivalentTo polycystic kidney disease 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618061 +MONDO:0032800 robinow syndrome, autosomal recessive 2 DOID:0060974 MONDO:equivalentTo autosomal recessive Robinow syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618529 MONDO:0800030 gastrointestinal defects and immunodeficiency syndrome 1 DOID:14671 MONDO:equivalentTo multiple intestinal atresia semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:243150 -MONDO:0859310 orofaciodigital syndrome 19 DOID:0060960 MONDO:equivalentTo orofaciodigital syndrome XIX semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620107 -MONDO:0958230 orofaciodigital syndrome 20 DOID:0060962 MONDO:equivalentTo orofaciodigital syndrome XX semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620718 +MONDO:0859328 hypomagnesemia 7, renal, with or without dilated cardiomyopathy DOID:0060972 MONDO:equivalentTo renal hypomagnesemia 7, with or without dilated cardiomyopathy semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620152 +MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 DOID:0070551 MONDO:equivalentTo epidermolytic palmoplantar keratoderma 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620411 diff --git a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv index ab0d23e1..c03caf0f 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv @@ -3,15 +3,8 @@ ID A oboInOwl:hasDbXref >A oboInOwl:source MONDO:0005641 aleutian mink disease DOID:2934 MONDO:equivalentTo aleutian mink disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aleutian mink disease MONDO:0005676 borna disease DOID:5154 MONDO:equivalentTo borna disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borna disease MONDO:0007744 cholesterol-ester transfer protein deficiency DOID:0111368 MONDO:equivalentTo cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency -MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency DOID:0070540 MONDO:equivalentTo mitochondrial short-chain enoyl-CoA hydratase 1 deficiency semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616277 -MONDO:0014654 Ullrich congenital muscular dystrophy 2 DOID:0060948 MONDO:equivalentTo Ullrich congenital muscular dystrophy 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616470 -MONDO:0014936 ZTTK syndrome DOID:0060953 MONDO:equivalentTo ZTTK syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617140 -MONDO:0026763 holoprosencephaly 13, X-linked DOID:0060954 MONDO:equivalentTo Holoprosencephaly 13, X-linked semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:301043 -MONDO:0030105 galactosemia 4 DOID:0060969 MONDO:equivalentTo galactosemia 4 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618881 -MONDO:0030500 Loeys-Dietz syndrome 6 DOID:0060964 MONDO:equivalentTo Loeys-Dietz syndrome 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619656 -MONDO:0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities DOID:0070543 MONDO:equivalentTo neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619121 -MONDO:0031062 polycystic kidney disease 7 DOID:0060952 MONDO:equivalentTo polycystic kidney disease 7 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620056 -MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia DOID:0060950 MONDO:equivalentTo hypervalinemia and hyperleucine-isoleucinemia semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618850 -MONDO:0859341 hypotrichosis 15 DOID:0060968 MONDO:equivalentTo hypotrichosis 15 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620177 -MONDO:0957921 Cornelia de Lange syndrome 6 DOID:0060970 MONDO:equivalentTo Cornelia de Lange syndrome 6 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620568 -MONDO:0970945 developmental and epileptic encephalopathy 116 DOID:0070545 MONDO:equivalentTo developmental and epileptic encephalopathy 116 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620806 +MONDO:0014860 polycystic liver disease 2 DOID:0060975 MONDO:equivalentTo polycystic liver disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617004 +MONDO:0030374 WHIM syndrome 2 DOID:0060973 MONDO:equivalentTo WHIM syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619407 +MONDO:0044327 polycystic liver disease 4 with or without kidney cysts DOID:0060977 MONDO:equivalentTo polycystic liver disease 4 with or without kidney cysts semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617875 +MONDO:0054743 polycystic liver disease 3 with or without kidney cysts DOID:0060976 MONDO:equivalentTo polycystic liver disease 3 with or without kidney cysts semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617874 +MONDO:0800029 interstitial lung disease 2 DOID:0060971 MONDO:equivalentTo interstitial lung disease 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:178500 diff --git a/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv b/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv index ef1a65e8..3b1d5c7b 100644 --- a/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv +++ b/src/ontology/lexmatch/unmapped_icd10cm_lex.tsv @@ -423,7 +423,6 @@ MONDO:0004952 Hodgkins lymphoma ICD10CM:C81 MONDO:equivalentTo Hodgkin lymphoma MONDO:0004967 acute lymphoblastic leukemia ICD10CM:C91.0 MONDO:equivalentTo Acute lymphoblastic leukemia [ALL] semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute lymphoblastic leukemia MONDO:0004967 acute lymphoblastic leukemia ICD10CM:C91.0 MONDO:equivalentTo Acute lymphoblastic leukemia [ALL] semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute lymphoblastic leukemia MONDO:0004969 acute quadriplegic myopathy ICD10CM:G72.81 MONDO:equivalentTo Critical illness myopathy semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym acute quadriplegic myopathy -MONDO:0004980 atopic eczema ICD10CM:L20 MONDO:equivalentTo Atopic dermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atopic dermatitis MONDO:0004980 atopic eczema ICD10CM:L20.0 MONDO:equivalentTo Besnier's prurigo semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label besnier's prurigo MONDO:0004980 atopic eczema ICD10CM:L20.81 MONDO:equivalentTo Atopic neurodermatitis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label atopic neurodermatitis MONDO:0005009 congestive heart failure ICD10CM:I50.9 MONDO:equivalentTo Heart failure, unspecified semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym congestive heart disease diff --git a/src/ontology/lexmatch/unmapped_ordo_lex.tsv b/src/ontology/lexmatch/unmapped_ordo_lex.tsv index 67c255c1..14def761 100644 --- a/src/ontology/lexmatch/unmapped_ordo_lex.tsv +++ b/src/ontology/lexmatch/unmapped_ordo_lex.tsv @@ -1,2 +1,19 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source +MONDO:0002095 vascular cancer Orphanet:673466 MONDO:equivalentTo Malignant vascular tumor semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label malignant vascular tumor +MONDO:0003999 juvenile pilocytic astrocytoma Orphanet:673580 MONDO:equivalentTo Classic pilocytic astrocytoma semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym juvenile pilocytic astrocytoma +MONDO:0003999 juvenile pilocytic astrocytoma Orphanet:673580 MONDO:equivalentTo Classic pilocytic astrocytoma semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym juvenile pilocytic astrocytoma +MONDO:0005888 ornithosis Orphanet:660053 MONDO:equivalentTo Psittacosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label psittacosis +MONDO:0005888 ornithosis Orphanet:660053 MONDO:equivalentTo Psittacosis semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym ornithosis +MONDO:0009796 ornithine aminotransferase deficiency Orphanet:123971 MONDO:equivalentTo ornithine aminotransferase semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym gyrate atrophy +MONDO:0009796 ornithine aminotransferase deficiency Orphanet:123971 MONDO:equivalentTo ornithine aminotransferase semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hoga +MONDO:0009902 cutaneous porphyria Orphanet:659681 MONDO:equivalentTo Erythropoietic porphyria semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label erythropoietic porphyria +MONDO:0010431 Joubert syndrome 10 Orphanet:123982 MONDO:equivalentTo OFD1 centriole and centriolar satellite protein semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym joubert syndrome type 10 +MONDO:0011997 Hermansky-Pudlak syndrome 2 Orphanet:664500 MONDO:equivalentTo Hermansky-Pudlak syndrome due to AP3B1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hermansky-pudlak syndrome type 2 +MONDO:0013656 intellectual disability, autosomal dominant 9 Orphanet:662367 MONDO:equivalentTo NESCAV syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label nescav syndrome +MONDO:0014885 Hermansky-Pudlak syndrome 10 Orphanet:664511 MONDO:equivalentTo Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym hermansky-pudlak syndrome type 10 +MONDO:0032886 Liang-Wang syndrome Orphanet:664438 MONDO:equivalentTo Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym liang-wang syndrome +MONDO:0859143 Radio-Tartaglia syndrome Orphanet:662234 MONDO:equivalentTo Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym spen-related neurodevelopmental disorder +MONDO:0859143 Radio-Tartaglia syndrome Orphanet:662234 MONDO:equivalentTo Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym radio-tartaglia syndrome +MONDO:0859147 Marbach-Rustad progeroid syndrome Orphanet:659873 MONDO:equivalentTo Wormian bones-micrognathia-abnormal dentition-progeroid syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym marbach-rustad progeroid syndrome +MONDO:0859301 neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects Orphanet:662207 MONDO:equivalentTo Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects diff --git a/src/ontology/lexmatch/unmapped_ordo_lex_exact.tsv b/src/ontology/lexmatch/unmapped_ordo_lex_exact.tsv index 67c255c1..420b17f3 100644 --- a/src/ontology/lexmatch/unmapped_ordo_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_ordo_lex_exact.tsv @@ -1,2 +1,17 @@ subject_id subject_label object_id predicate_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string ID A oboInOwl:hasDbXref >A oboInOwl:source +MONDO:0002520 hepatic porphyria Orphanet:659694 MONDO:equivalentTo Hepatic porphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hepatic porphyria +MONDO:0003258 hobnail hemangioma Orphanet:675362 MONDO:equivalentTo Hobnail hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label hobnail hemangioma +MONDO:0005774 glanders Orphanet:659908 MONDO:equivalentTo Glanders semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label glanders +MONDO:0007753 Frey syndrome Orphanet:662240 MONDO:equivalentTo Frey syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label frey syndrome +MONDO:0008858 Behr syndrome Orphanet:1239 MONDO:equivalentTo Behr syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label behr syndrome +MONDO:0018984 Oroya fever Orphanet:659756 MONDO:equivalentTo Oroya fever semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label oroya fever +MONDO:0021169 epithelioid hemangioma Orphanet:675396 MONDO:equivalentTo Epithelioid hemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label epithelioid hemangioma +MONDO:0030048 harderoporphyria Orphanet:659672 MONDO:equivalentTo Harderoporphyria semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label harderoporphyria +MONDO:0032916 Imagawa-Matsumoto syndrome Orphanet:659463 MONDO:equivalentTo Imagawa-Matsumoto syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label imagawa-matsumoto syndrome +MONDO:0043349 intravascular papillary endothelial hyperplasia Orphanet:673525 MONDO:equivalentTo Intravascular papillary endothelial hyperplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intravascular papillary endothelial hyperplasia +MONDO:0043361 May-Thurner syndrome Orphanet:675404 MONDO:equivalentTo May-Thurner syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label may-thurner syndrome +MONDO:0060510 Cohen-Gibson syndrome Orphanet:659396 MONDO:equivalentTo Cohen-Gibson syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cohen-gibson syndrome +MONDO:0800478 trigeminal trophic syndrome Orphanet:664901 MONDO:equivalentTo Trigeminal trophic syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label trigeminal trophic syndrome +MONDO:0850112 breast implant-associated anaplastic large cell lymphoma Orphanet:667662 MONDO:equivalentTo Breast implant-associated anaplastic large cell lymphoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label breast implant-associated anaplastic large cell lymphoma +MONDO:0859219 Rauch-Steindl syndrome Orphanet:659642 MONDO:equivalentTo Rauch-Steindl syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label rauch-steindl syndrome diff --git a/src/ontology/metadata/doid-metrics.json b/src/ontology/metadata/doid-metrics.json index cc2e09a8..0a1d4c85 100644 --- a/src/ontology/metadata/doid-metrics.json +++ b/src/ontology/metadata/doid-metrics.json @@ -4,10 +4,10 @@ "abox_axiom_count_incl": 0, "annotation_property_count": 27, "annotation_property_count_incl": 27, - "axiom_count": 116206, - "axiom_count_incl": 116206, - "class_count": 13124, - "class_count_incl": 13124, + "axiom_count": 116493, + "axiom_count_incl": 116493, + "class_count": 13147, + "class_count_incl": 13147, "dataproperty_count": 0, "dataproperty_count_incl": 0, "datatypes_count": 2, @@ -20,13 +20,13 @@ "expressivity_incl": "C", "individual_count": 0, "individual_count_incl": 0, - "logical_axiom_count": 16161, - "logical_axiom_count_incl": 16161, + "logical_axiom_count": 16200, + "logical_axiom_count_incl": 16200, "obj_property_count": 0, "obj_property_count_incl": 0, "ontology_anno_count": 11, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/doid.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/doid.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-07-03/doid.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, @@ -37,13 +37,13 @@ "rdfs": false, "rule_count": 0, "rule_count_incl": 0, - "signature_entity_count": 13153, - "signature_entity_count_incl": 13153, + "signature_entity_count": 13176, + "signature_entity_count_incl": 13176, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 16161, - "tbox_axiom_count_incl": 16161, - "tboxrbox_axiom_count": 16161, - "tboxrbox_axiom_count_incl": 16161, + "tbox_axiom_count": 16200, + "tbox_axiom_count_incl": 16200, + "tboxrbox_axiom_count": 16200, + "tboxrbox_axiom_count_incl": 16200, "axiom_types": [ "AnnotationAssertion", "SubAnnotationPropertyOf", @@ -67,24 +67,24 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 86894, + "AnnotationAssertion": 87119, "SubAnnotationPropertyOf": 1, "DisjointClasses": 26, - "Declaration": 13150, - "SubClassOf": 16135 + "Declaration": 13173, + "SubClassOf": 16174 }, "axiom_type_count_incl": { - "AnnotationAssertion": 86894, + "AnnotationAssertion": 87119, "SubAnnotationPropertyOf": 1, "DisjointClasses": 26, - "Declaration": 13150, - "SubClassOf": 16135 + "Declaration": 13173, + "SubClassOf": 16174 }, "class_expression_count": { - "Class": 45606 + "Class": 45707 }, "class_expression_count_incl": { - "Class": 45606 + "Class": 45707 }, "curie_map": { "oboInOwl": "http://www.geneontology.org/formats/oboInOwl#", @@ -110,20 +110,20 @@ "dc": "http://purl.org/dc/terms/" }, "namespace_axiom_count": { - "oboInOwl": 57715, - "owl": 2484, - "DOID": 44059, + "oboInOwl": 57819, + "owl": 2485, + "DOID": 44160, "HP": 118, - "skos": 5951, + "skos": 6039, "CL": 63, - "rdfs": 19787, + "rdfs": 19811, "FOODON": 24, "NCBITaxon": 322, "TRANS": 13, "SYMP": 306, "dc11": 2, "rdf": 61, - "IAO": 2216, + "IAO": 2227, "CHEBI": 90, "UBERON": 394, "SO": 17, @@ -132,20 +132,20 @@ "dc": 1 }, "namespace_axiom_count_incl": { - "oboInOwl": 57715, - "owl": 2484, - "DOID": 44059, + "oboInOwl": 57819, + "owl": 2485, + "DOID": 44160, "HP": 118, - "skos": 5951, + "skos": 6039, "CL": 63, - "rdfs": 19787, + "rdfs": 19811, "FOODON": 24, "NCBITaxon": 322, "TRANS": 13, "SYMP": 306, "dc11": 2, "rdf": 61, - "IAO": 2216, + "IAO": 2227, "CHEBI": 90, "UBERON": 394, "SO": 17, @@ -156,7 +156,7 @@ "namespace_entity_count": { "oboInOwl": 12, "owl": 2, - "DOID": 11577, + "DOID": 11600, "HP": 118, "xsd": 1, "CL": 63, @@ -179,7 +179,7 @@ "namespace_entity_count_incl": { "oboInOwl": 12, "owl": 2, - "DOID": 11577, + "DOID": 11600, "HP": 118, "xsd": 1, "CL": 63, diff --git a/src/ontology/metadata/gard-metrics.json b/src/ontology/metadata/gard-metrics.json index 6b277c4f..896545ff 100644 --- a/src/ontology/metadata/gard-metrics.json +++ b/src/ontology/metadata/gard-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/gard.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/gard.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-07-03/gard.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10cm-metrics.json b/src/ontology/metadata/icd10cm-metrics.json index 5882184f..7e8ce4cd 100644 --- a/src/ontology/metadata/icd10cm-metrics.json +++ b/src/ontology/metadata/icd10cm-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 4, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/icd10cm.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-07-03/icd10cm.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10who-metrics.json b/src/ontology/metadata/icd10who-metrics.json index 1378c80d..5afa1d1a 100644 --- a/src/ontology/metadata/icd10who-metrics.json +++ b/src/ontology/metadata/icd10who-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 4, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/icd10who.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-07-03/icd10who.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd11foundation-metrics.json b/src/ontology/metadata/icd11foundation-metrics.json index 1d78146e..0a1ff6d4 100644 --- a/src/ontology/metadata/icd11foundation-metrics.json +++ b/src/ontology/metadata/icd11foundation-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 5, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd11foundation.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/icd11foundation.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-07-03/icd11foundation.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/ncit-metrics.json b/src/ontology/metadata/ncit-metrics.json index 3f2210c6..afa62f1b 100644 --- a/src/ontology/metadata/ncit-metrics.json +++ b/src/ontology/metadata/ncit-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 7, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ncit.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/ncit.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-07-03/ncit.owl", "owl2": true, "owl2_dl": true, "owl2_el": false, diff --git a/src/ontology/metadata/omim-metrics.json b/src/ontology/metadata/omim-metrics.json index 6443afa2..c2578484 100644 --- a/src/ontology/metadata/omim-metrics.json +++ b/src/ontology/metadata/omim-metrics.json @@ -4,10 +4,10 @@ "abox_axiom_count_incl": 0, "annotation_property_count": 18, "annotation_property_count_incl": 18, - "axiom_count": 346174, - "axiom_count_incl": 346174, - "class_count": 19514, - "class_count_incl": 19514, + "axiom_count": 346314, + "axiom_count_incl": 346314, + "class_count": 19512, + "class_count_incl": 19512, "dataproperty_count": 0, "dataproperty_count_incl": 0, "datatypes_count": 2, @@ -20,13 +20,13 @@ "expressivity_incl": "E", "individual_count": 0, "individual_count_incl": 0, - "logical_axiom_count": 22747, - "logical_axiom_count_incl": 22747, + "logical_axiom_count": 22738, + "logical_axiom_count_incl": 22738, "obj_property_count": 7, "obj_property_count_incl": 7, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/omim.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/omim.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-07-03/omim.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, @@ -37,13 +37,13 @@ "rdfs": false, "rule_count": 0, "rule_count_incl": 0, - "signature_entity_count": 19541, - "signature_entity_count_incl": 19541, + "signature_entity_count": 19539, + "signature_entity_count_incl": 19539, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 22747, - "tbox_axiom_count_incl": 22747, - "tboxrbox_axiom_count": 22747, - "tboxrbox_axiom_count_incl": 22747, + "tbox_axiom_count": 22738, + "tbox_axiom_count_incl": 22738, + "tboxrbox_axiom_count": 22738, + "tboxrbox_axiom_count_incl": 22738, "axiom_types": [ "AnnotationAssertion", "SubAnnotationPropertyOf", @@ -65,24 +65,24 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 303891, + "AnnotationAssertion": 304042, "SubAnnotationPropertyOf": 1, - "Declaration": 19535, - "SubClassOf": 22747 + "Declaration": 19533, + "SubClassOf": 22738 }, "axiom_type_count_incl": { - "AnnotationAssertion": 303891, + "AnnotationAssertion": 304042, "SubAnnotationPropertyOf": 1, - "Declaration": 19535, - "SubClassOf": 22747 + "Declaration": 19533, + "SubClassOf": 22738 }, "class_expression_count": { - "Class": 64998, - "ObjectSomeValuesFrom": 17818 + "Class": 64978, + "ObjectSomeValuesFrom": 17808 }, "class_expression_count_incl": { - "Class": 64998, - "ObjectSomeValuesFrom": 17818 + "Class": 64978, + "ObjectSomeValuesFrom": 17808 }, "curie_map": { "oboInOwl": "http://www.geneontology.org/formats/oboInOwl#", @@ -99,41 +99,41 @@ "obo": "http://purl.obolibrary.org/obo/" }, "namespace_axiom_count": { - "prefix_unknown": 87850, - "oboInOwl": 91686, - "MONDO": 19045, - "rdf": 20997, + "prefix_unknown": 87839, + "oboInOwl": 91741, + "MONDO": 19063, + "rdf": 20993, "owl": 1364, "IAO": 55205, - "skos": 81013, - "rdfs": 40056, - "biolink": 36883, - "CHR": 7585, - "RO": 17825, + "skos": 81052, + "rdfs": 40071, + "biolink": 36899, + "CHR": 7576, + "RO": 17815, "obo": 2 }, "namespace_axiom_count_incl": { - "prefix_unknown": 87850, - "oboInOwl": 91686, - "MONDO": 19045, - "rdf": 20997, + "prefix_unknown": 87839, + "oboInOwl": 91741, + "MONDO": 19063, + "rdf": 20993, "owl": 1364, "IAO": 55205, - "skos": 81013, - "rdfs": 40056, - "biolink": 36883, - "CHR": 7585, - "RO": 17825, + "skos": 81052, + "rdfs": 40071, + "biolink": 36899, + "CHR": 7576, + "RO": 17815, "obo": 2 }, "namespace_entity_count": { - "prefix_unknown": 18068, + "prefix_unknown": 18069, "oboInOwl": 4, "owl": 2, "xsd": 1, "skos": 1, "rdfs": 2, - "CHR": 1449, + "CHR": 1446, "MONDO": 1, "rdf": 1, "IAO": 2, @@ -142,13 +142,13 @@ "obo": 1 }, "namespace_entity_count_incl": { - "prefix_unknown": 18068, + "prefix_unknown": 18069, "oboInOwl": 4, "owl": 2, "xsd": 1, "skos": 1, "rdfs": 2, - "CHR": 1449, + "CHR": 1446, "MONDO": 1, "rdf": 1, "IAO": 2, diff --git a/src/ontology/metadata/ordo-metrics.json b/src/ontology/metadata/ordo-metrics.json index 32e32059..4607a31d 100644 --- a/src/ontology/metadata/ordo-metrics.json +++ b/src/ontology/metadata/ordo-metrics.json @@ -4,10 +4,10 @@ "abox_axiom_count_incl": 0, "annotation_property_count": 16, "annotation_property_count_incl": 16, - "axiom_count": 206309, - "axiom_count_incl": 206309, - "class_count": 14917, - "class_count_incl": 14917, + "axiom_count": 213414, + "axiom_count_incl": 213414, + "class_count": 15089, + "class_count_incl": 15089, "dataproperty_count": 0, "dataproperty_count_incl": 0, "datatypes_count": 3, @@ -20,13 +20,13 @@ "expressivity_incl": "E", "individual_count": 0, "individual_count_incl": 0, - "logical_axiom_count": 42481, - "logical_axiom_count_incl": 42481, + "logical_axiom_count": 42867, + "logical_axiom_count_incl": 42867, "obj_property_count": 4, "obj_property_count_incl": 4, "ontology_anno_count": 12, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ordo.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-06-22/ordo.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-07-03/ordo.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, @@ -37,13 +37,13 @@ "rdfs": false, "rule_count": 0, "rule_count_incl": 0, - "signature_entity_count": 14940, - "signature_entity_count_incl": 14940, + "signature_entity_count": 15112, + "signature_entity_count_incl": 15112, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 42481, - "tbox_axiom_count_incl": 42481, - "tboxrbox_axiom_count": 42481, - "tboxrbox_axiom_count_incl": 42481, + "tbox_axiom_count": 42867, + "tbox_axiom_count_incl": 42867, + "tboxrbox_axiom_count": 42867, + "tboxrbox_axiom_count_incl": 42867, "axiom_types": [ "AnnotationAssertion", "SubAnnotationPropertyOf", @@ -65,24 +65,24 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 148893, + "AnnotationAssertion": 155440, "SubAnnotationPropertyOf": 1, - "Declaration": 14934, - "SubClassOf": 42481 + "Declaration": 15106, + "SubClassOf": 42867 }, "axiom_type_count_incl": { - "AnnotationAssertion": 148893, + "AnnotationAssertion": 155440, "SubAnnotationPropertyOf": 1, - "Declaration": 14934, - "SubClassOf": 42481 + "Declaration": 15106, + "SubClassOf": 42867 }, "class_expression_count": { - "Class": 99879, - "ObjectSomeValuesFrom": 6737 + "Class": 100823, + "ObjectSomeValuesFrom": 6771 }, "class_expression_count_incl": { - "Class": 99879, - "ObjectSomeValuesFrom": 6737 + "Class": 100823, + "ObjectSomeValuesFrom": 6771 }, "curie_map": { "dc11": "http://purl.org/dc/elements/1.1/", @@ -99,33 +99,33 @@ }, "namespace_axiom_count": { "dc11": 1, - "prefix_unknown": 99879, - "oboInOwl": 160588, - "rdf": 36280, - "owl": 1391, - "IAO": 6893, - "rdfs": 16693, + "prefix_unknown": 100823, + "oboInOwl": 167125, + "rdf": 36517, + "owl": 1424, + "IAO": 6926, + "rdfs": 16896, "BFO": 1, - "RO": 6740, + "RO": 6774, "obo": 2, "dc": 3 }, "namespace_axiom_count_incl": { "dc11": 1, - "prefix_unknown": 99879, - "oboInOwl": 160588, - "rdf": 36280, - "owl": 1391, - "IAO": 6893, - "rdfs": 16693, + "prefix_unknown": 100823, + "oboInOwl": 167125, + "rdf": 36517, + "owl": 1424, + "IAO": 6926, + "rdfs": 16896, "BFO": 1, - "RO": 6740, + "RO": 6774, "obo": 2, "dc": 3 }, "namespace_entity_count": { "dc11": 1, - "prefix_unknown": 14917, + "prefix_unknown": 15089, "oboInOwl": 6, "owl": 2, "rdf": 1, @@ -139,7 +139,7 @@ }, "namespace_entity_count_incl": { "dc11": 1, - "prefix_unknown": 14917, + "prefix_unknown": 15089, "oboInOwl": 6, "owl": 2, "rdf": 1, diff --git a/src/ontology/reports/component_signature-doid.tsv b/src/ontology/reports/component_signature-doid.tsv index 568a137c..ffc14926 100644 --- a/src/ontology/reports/component_signature-doid.tsv +++ b/src/ontology/reports/component_signature-doid.tsv @@ -1755,6 +1755,13 @@ + + + + + + + @@ -2285,6 +2292,16 @@ + + + + + + + + + + @@ -3670,6 +3687,13 @@ + + + + + + + @@ -9050,7 +9074,6 @@ - diff --git a/src/ontology/reports/component_signature-omim.tsv b/src/ontology/reports/component_signature-omim.tsv index a92d73c4..8d5da6aa 100644 --- a/src/ontology/reports/component_signature-omim.tsv +++ b/src/ontology/reports/component_signature-omim.tsv @@ -443,7 +443,6 @@ - @@ -788,7 +787,6 @@ - @@ -1227,7 +1225,6 @@ - @@ -2098,7 +2095,6 @@ - @@ -3559,7 +3555,6 @@ - @@ -9897,6 +9892,7 @@ + @@ -17874,6 +17870,8 @@ + + diff --git a/src/ontology/reports/component_signature-ordo.tsv b/src/ontology/reports/component_signature-ordo.tsv index 244fa0e8..f3b37c54 100644 --- a/src/ontology/reports/component_signature-ordo.tsv +++ b/src/ontology/reports/component_signature-ordo.tsv @@ -19,6 +19,7 @@ + @@ -28,6 +29,7 @@ + @@ -274,6 +276,7 @@ + @@ -438,6 +441,7 @@ + @@ -525,6 +529,7 @@ + @@ -602,6 +607,7 @@ + @@ -628,6 +634,7 @@ + @@ -698,6 +705,7 @@ + @@ -726,6 +734,7 @@ + @@ -762,6 +771,7 @@ + @@ -791,6 +801,7 @@ + @@ -875,6 +886,7 @@ + @@ -897,6 +909,7 @@ + @@ -992,6 +1005,7 @@ + @@ -1037,8 +1051,6 @@ - - @@ -1149,8 +1161,10 @@ + + @@ -1245,6 +1259,7 @@ + @@ -1319,8 +1334,10 @@ + + @@ -1431,6 +1448,7 @@ + @@ -1439,6 +1457,7 @@ + @@ -1632,7 +1651,6 @@ - @@ -1644,6 +1662,7 @@ + @@ -1744,6 +1763,7 @@ + @@ -1815,6 +1835,7 @@ + @@ -1913,6 +1934,7 @@ + @@ -1991,7 +2013,6 @@ - @@ -2050,6 +2071,7 @@ + @@ -2230,6 +2252,7 @@ + @@ -2307,6 +2330,7 @@ + @@ -2480,6 +2504,7 @@ + @@ -2736,7 +2761,6 @@ - @@ -3048,8 +3072,12 @@ + + + + @@ -3092,6 +3120,7 @@ + @@ -3123,6 +3152,7 @@ + @@ -3210,6 +3240,7 @@ + @@ -3292,6 +3323,7 @@ + @@ -3350,6 +3382,7 @@ + @@ -3405,6 +3438,7 @@ + @@ -3413,6 +3447,7 @@ + @@ -3469,6 +3504,7 @@ + @@ -3505,6 +3541,7 @@ + @@ -3687,11 +3724,13 @@ + + @@ -3845,6 +3884,7 @@ + @@ -3981,6 +4021,7 @@ + @@ -10021,6 +10062,7 @@ + @@ -12187,13 +12229,90 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -12211,6 +12330,9 @@ + + + @@ -12228,10 +12350,60 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + diff --git a/src/ontology/reports/doid.subclass.added.robot.tsv b/src/ontology/reports/doid.subclass.added.robot.tsv index 21c44787..334fb99b 100644 --- a/src/ontology/reports/doid.subclass.added.robot.tsv +++ b/src/ontology/reports/doid.subclass.added.robot.tsv @@ -1466,13 +1466,16 @@ MONDO:0009485 oculocerebrofacial syndrome, Kaufman type MONDO:0006025 DOID:01114 MONDO:0009504 mitochondrial DNA depletion syndrome 9 MONDO:0006025 DOID:0080128 DOID:0050737 autosomal recessive disease MONDO:0009511 Larsen-like syndrome, B3GAT3 type MONDO:0002254 DOID:0080575 DOID:225 syndromic disease MONDO:0009511 Larsen-like syndrome, B3GAT3 type MONDO:0006025 DOID:0080575 DOID:0050737 autosomal recessive disease +MONDO:0009520 3-hydroxy-3-methylglutaric aciduria MONDO:0006025 DOID:0070541 DOID:0050737 autosomal recessive disease MONDO:0009532 Miller-Dieker lissencephaly syndrome MONDO:0000426 DOID:0060469 DOID:0050736 autosomal dominant disease +MONDO:0009552 mal de Meleda MONDO:0006025 DOID:0060862 DOID:0050737 autosomal recessive disease MONDO:0009558 Treacher Collins syndrome 3 MONDO:0006025 DOID:0080791 DOID:0050737 autosomal recessive disease MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome MONDO:0002254 DOID:0090117 DOID:225 syndromic disease MONDO:0009576 megalocornea MONDO:0020605 DOID:0060305 DOID:0080012 X-linked recessive disease MONDO:0009579 Frank-Ter Haar syndrome MONDO:0006025 DOID:0111789 DOID:0050737 autosomal recessive disease MONDO:0009579 Frank-Ter Haar syndrome MONDO:0018233 DOID:0111789 DOID:0111782 otopalatodigital syndrome spectrum disorder MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type MONDO:0006025 DOID:0112298 DOID:0050737 autosomal recessive disease +MONDO:0009603 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0006025 DOID:0060949 DOID:0050737 autosomal recessive disease MONDO:0009605 methemoglobinemia type 4 MONDO:0002145 DOID:0112316 DOID:1923 disorder of sexual differentiation MONDO:0009605 methemoglobinemia type 4 MONDO:0006025 DOID:0112316 DOID:0050737 autosomal recessive disease MONDO:0009609 methylcobalamin deficiency type cblG MONDO:0002012 DOID:0050733 DOID:14749 methylmalonic acidemia @@ -1484,6 +1487,7 @@ MONDO:0009626 pseudo-TORCH syndrome MONDO:0002254 DOID:0050656 DOID:225 syndromi MONDO:0009631 isolated microphthalmia 1 MONDO:0006025 DOID:0060840 DOID:0050737 autosomal recessive disease MONDO:0009635 microvillus inclusion disease MONDO:0006025 DOID:0060775 DOID:0050737 autosomal recessive disease MONDO:0009636 mitochondrial DNA depletion syndrome 3 (hepatocerebral type) MONDO:0006025 DOID:0080121 DOID:0050737 autosomal recessive disease +MONDO:0009642 orofaciodigital syndrome type II MONDO:0006025 DOID:0060959 DOID:0050737 autosomal recessive disease MONDO:0009652 GNPTG-mucolipidosis MONDO:0006025 DOID:0080678 DOID:0050737 autosomal recessive disease MONDO:0009655 mucopolysaccharidosis type 3A MONDO:0006025 DOID:0111395 DOID:0050737 autosomal recessive disease MONDO:0009656 mucopolysaccharidosis type 3B MONDO:0006025 DOID:0111394 DOID:0050737 autosomal recessive disease @@ -1626,7 +1630,6 @@ MONDO:0010217 de Sanctis-Cacchione syndrome MONDO:0019600 DOID:0112158 DOID:0050 MONDO:0010218 46,XX sex reversal 2 MONDO:0000426 DOID:0111763 DOID:0050736 autosomal dominant disease MONDO:0010221 CHIME syndrome MONDO:0006025 DOID:0112152 DOID:0050737 autosomal recessive disease MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome MONDO:0000425 DOID:0112151 DOID:0050735 X-linked disease -MONDO:0010225 Dent disease type 1 MONDO:0020605 DOID:0111798 DOID:0080012 X-linked recessive disease MONDO:0010226 46,XY sex reversal 2 MONDO:0000425 DOID:0111777 DOID:0050735 X-linked disease MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked MONDO:0000858 DOID:0080681 DOID:0080072 neuronal intestinal dysplasia MONDO:0010232 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked MONDO:0020605 DOID:0080681 DOID:0080012 X-linked recessive disease @@ -1843,6 +1846,8 @@ MONDO:0010667 Prieto syndrome MONDO:0020605 DOID:0060805 DOID:0080012 X-linked r MONDO:0010669 syndactyly type 8 MONDO:0020605 DOID:0111813 DOID:0080012 X-linked recessive disease MONDO:0010679 Duchenne muscular dystrophy MONDO:0020605 DOID:11723 DOID:0080012 X-linked recessive disease MONDO:0010684 X-linked myopathy with excessive autophagy MONDO:0020605 DOID:0050760 DOID:0080012 X-linked recessive disease +MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure MONDO:0006510 DOID:0111798 DOID:447 renal tubular transport disease +MONDO:0010687 nephrolithiasis, X-linked recessive, with renal failure MONDO:0020605 DOID:0111798 DOID:0080012 X-linked recessive disease MONDO:0010688 hereditary sensory neuropathy X-linked MONDO:0020605 DOID:0070159 DOID:0080012 X-linked recessive disease MONDO:0010689 Charcot-Marie-Tooth disease X-linked recessive 4 MONDO:0020605 DOID:0110212 DOID:0080012 X-linked recessive disease MONDO:0010690 congenital stationary night blindness 1A MONDO:0020605 DOID:0110870 DOID:0080012 X-linked recessive disease @@ -2131,6 +2136,7 @@ MONDO:0011609 dermatitis, atopic, 6 MONDO:0004980 DOID:0110102 DOID:3310 atopic MONDO:0011610 dimethylglycine dehydrogenase deficiency MONDO:0004736 DOID:0081446 DOID:9252 inborn disorder of amino acid metabolism MONDO:0011610 dimethylglycine dehydrogenase deficiency MONDO:0006025 DOID:0081446 DOID:0050737 autosomal recessive disease MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 MONDO:0006025 DOID:0060369 DOID:0050737 autosomal recessive disease +MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency MONDO:0004736 DOID:0081168 DOID:9252 inborn disorder of amino acid metabolism MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency MONDO:0006025 DOID:0081168 DOID:0050737 autosomal recessive disease MONDO:0011629 MOGS-congenital disorder of glycosylation MONDO:0006025 DOID:0070254 DOID:0050737 autosomal recessive disease MONDO:0011630 retinitis pigmentosa 28 MONDO:0006025 DOID:0110365 DOID:0050737 autosomal recessive disease @@ -2303,6 +2309,8 @@ MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 MONDO:0006025 DOID:0070 MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency MONDO:0006025 DOID:0111967 DOID:0050737 autosomal recessive disease MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency MONDO:0850199 DOID:0111967 DOID:0080709 NK cell deficiency MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0006025 DOID:0110724 DOID:0050737 autosomal recessive disease +MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0004736 DOID:0070544 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0006025 DOID:0070544 DOID:0050737 autosomal recessive disease MONDO:0012395 cataract 18 MONDO:0006025 DOID:0110238 DOID:0050737 autosomal recessive disease MONDO:0012396 exercise-induced hyperinsulinism MONDO:0000426 DOID:0070214 DOID:0050736 autosomal dominant disease MONDO:0012398 retinal cone dystrophy 3A MONDO:0000455 DOID:0081025 DOID:0050795 cone dystrophy @@ -3014,6 +3022,7 @@ MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome MON MONDO:0014401 tall stature-scoliosis-macrodactyly of the great toes syndrome MONDO:0005497 DOID:0070316 DOID:0080006 bone development disease MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0000426 DOID:0111457 DOID:0050736 autosomal dominant disease MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0000603 DOID:0111457 DOID:0060051 autoimmune disorder of cardiovascular system +MONDO:0014413 orofaciodigital syndrome type 14 MONDO:0006025 DOID:0060958 DOID:0050737 autosomal recessive disease MONDO:0014423 severe combined immunodeficiency due to DNA-PKcs deficiency MONDO:0006025 DOID:0111961 DOID:0050737 autosomal recessive disease MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency MONDO:0000426 DOID:0111956 DOID:0050736 autosomal dominant disease MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency MONDO:0003778 DOID:0111956 DOID:612 inborn error of immunity @@ -3069,8 +3078,14 @@ MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies- MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MONDO:0019502 DOID:0081212 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0014560 amelogenesis imperfecta type 1F MONDO:0006025 DOID:0110065 DOID:0050737 autosomal recessive disease MONDO:0014561 3-methylglutaconic aciduria, type VIIB MONDO:0006025 DOID:0110003 DOID:0050737 autosomal recessive disease +MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO:0002525 DOID:0070540 DOID:3146 inherited lipid metabolism disorder +MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO:0004069 DOID:0070540 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO:0004736 DOID:0070540 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0014563 mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency MONDO:0006025 DOID:0070540 DOID:0050737 autosomal recessive disease MONDO:0014565 cataract 43 MONDO:0000426 DOID:0110259 DOID:0050736 autosomal dominant disease MONDO:0014566 Charcot-Marie-Tooth disease axonal type 2U MONDO:0000426 DOID:0110173 DOID:0050736 autosomal dominant disease +MONDO:0014567 glutamate pyruvate transaminase 2 deficiency MONDO:0004736 DOID:0070542 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0014567 glutamate pyruvate transaminase 2 deficiency MONDO:0019502 DOID:0070542 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0014568 hereditary spastic paraplegia 73 MONDO:0000426 DOID:0110818 DOID:0050736 autosomal dominant disease MONDO:0014571 optic atrophy 9 MONDO:0006025 DOID:0111442 DOID:0050737 autosomal recessive disease MONDO:0014574 peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome MONDO:0005093 DOID:0070526 DOID:37 skin disorder @@ -3129,8 +3144,6 @@ MONDO:0014650 familial temporal lobe epilepsy 8 MONDO:0000426 DOID:0060754 DOID: MONDO:0014651 acrofacial dysostosis Cincinnati type MONDO:0000426 DOID:0060353 DOID:0050736 autosomal dominant disease MONDO:0014652 exudative vitreoretinopathy 6 MONDO:0000426 DOID:0111410 DOID:0050736 autosomal dominant disease MONDO:0014653 retinitis pigmentosa 72 MONDO:0006025 DOID:0110395 DOID:0050737 autosomal recessive disease -MONDO:0014654 Ullrich congenital muscular dystrophy 2 MONDO:0000426 DOID:0060944 DOID:0050736 autosomal dominant disease -MONDO:0014654 Ullrich congenital muscular dystrophy 2 MONDO:0003441 DOID:0060944 DOID:543 dystonic disorder MONDO:0014656 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MONDO:0006025 DOID:0111515 DOID:0050737 autosomal recessive disease MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0002254 DOID:0111158 DOID:225 syndromic disease MONDO:0014662 congenital insensitivity to pain-hypohidrosis syndrome MONDO:0006025 DOID:0070153 DOID:0050737 autosomal recessive disease @@ -3235,6 +3248,8 @@ MONDO:0014922 myofibrillar myopathy 7 MONDO:0006025 DOID:0080098 DOID:0050737 au MONDO:0014933 developmental and epileptic encephalopathy, 44 MONDO:0006025 DOID:0080424 DOID:0050737 autosomal recessive disease MONDO:0014934 spinocerebellar ataxia, autosomal recessive 24 MONDO:0015244 DOID:0111615 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0014935 frontometaphyseal dysplasia 2 MONDO:0000426 DOID:0111787 DOID:0050736 autosomal dominant disease +MONDO:0014936 ZTTK syndrome MONDO:0000426 DOID:0060953 DOID:0050736 autosomal dominant disease +MONDO:0014936 ZTTK syndrome MONDO:0002254 DOID:0060953 DOID:225 syndromic disease MONDO:0014939 congenital myasthenic syndrome 20 MONDO:0006025 DOID:0110661 DOID:0050737 autosomal recessive disease MONDO:0014940 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset MONDO:0005559 DOID:0081364 DOID:1289 neurodegenerative disease MONDO:0014942 developmental and epileptic encephalopathy, 45 MONDO:0000426 DOID:0080428 DOID:0050736 autosomal dominant disease @@ -3685,6 +3700,7 @@ MONDO:0026729 congenital disorder of glycosylation, type ICC MONDO:0020605 DOID: MONDO:0026730 Basilicata-Akhtar syndrome MONDO:0020119 DOID:0111838 DOID:0060309 X-linked syndromic intellectual disability MONDO:0026731 hypothyroidism, congenital, nongoitrous, 8 MONDO:0000426 DOID:0111837 DOID:0050736 autosomal dominant disease MONDO:0026732 hypothyroidism, congenital, nongoitrous, 9 MONDO:0020605 DOID:0111835 DOID:0080012 X-linked recessive disease +MONDO:0026763 holoprosencephaly 13, X-linked MONDO:0020604 DOID:0060954 DOID:0080009 X-linked dominant disease MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked MONDO:0001222 DOID:0112063 DOID:11200 congenital T-cell immunodeficiency MONDO:0026767 immunodeficiency 74, COVID-19-related, X-linked MONDO:0020605 DOID:0112063 DOID:0080012 X-linked recessive disease MONDO:0026771 developmental and epileptic encephalopathy, 85, with or without midline brain defects MONDO:0020604 DOID:0070380 DOID:0080009 X-linked dominant disease @@ -3720,6 +3736,7 @@ MONDO:0030054 developmental and epileptic encephalopathy, 86 MONDO:0006025 DOID: MONDO:0030056 Fanconi renotubular syndrome 5 MONDO:0006025 DOID:0080761 DOID:0050737 autosomal recessive disease MONDO:0030059 developmental and epileptic encephalopathy, 87 MONDO:0000426 DOID:0112221 DOID:0050736 autosomal dominant disease MONDO:0030062 arrhythmogenic right ventricular dysplasia, familial, 14 MONDO:0000426 DOID:0080959 DOID:0050736 autosomal dominant disease +MONDO:0030064 episodic ataxia, type 9 MONDO:0000426 DOID:0060965 DOID:0050736 autosomal dominant disease MONDO:0030065 agenesis of corpus callosum, cardiac, ocular, and genital syndrome MONDO:0002254 DOID:0080948 DOID:225 syndromic disease MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5 MONDO:0006025 DOID:0070368 DOID:0050737 autosomal recessive disease MONDO:0030071 retinitis pigmentosa 89 MONDO:0000426 DOID:0112146 DOID:0050736 autosomal dominant disease @@ -3787,6 +3804,9 @@ MONDO:0030847 arthrogryposis, distal, type 1C MONDO:0000429 DOID:0112190 DOID:00 MONDO:0030847 arthrogryposis, distal, type 1C MONDO:0015240 DOID:0112190 DOID:0111596 digitotalar dysmorphism MONDO:0030856 developmental and epileptic encephalopathy 89 MONDO:0006025 DOID:0112223 DOID:0050737 autosomal recessive disease MONDO:0030861 osteogenesis imperfecta, type 21 MONDO:0006025 DOID:0112201 DOID:0050737 autosomal recessive disease +MONDO:0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MONDO:0004069 DOID:0070543 DOID:700 inborn mitochondrial metabolism disorder +MONDO:0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MONDO:0004736 DOID:0070543 DOID:9252 inborn disorder of amino acid metabolism +MONDO:0030866 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MONDO:0006025 DOID:0070543 DOID:0050737 autosomal recessive disease MONDO:0030868 spermatogenic failure 49 MONDO:0006025 DOID:0112271 DOID:0050737 autosomal recessive disease MONDO:0030869 spermatogenic failures 50 MONDO:0006025 DOID:0112272 DOID:0050737 autosomal recessive disease MONDO:0030871 vertebral hypersegmentation and orofacial anomalies MONDO:0000426 DOID:0070418 DOID:0050736 autosomal dominant disease @@ -3821,6 +3841,7 @@ MONDO:0031028 developmental and epileptic encephalopathy 105 with hypopituitaris MONDO:0031043 lymphatic malformation 12 MONDO:0000426 DOID:0081030 DOID:0050736 autosomal dominant disease MONDO:0031052 developmental and epileptic encephalopathy 106 MONDO:0006025 DOID:0070392 DOID:0050737 autosomal recessive disease MONDO:0031055 developmental and epileptic encephalopathy 107 MONDO:0006025 DOID:0070393 DOID:0050737 autosomal recessive disease +MONDO:0031062 polycystic kidney disease 7 MONDO:0004691 DOID:0060952 DOID:898 autosomal dominant polycystic kidney disease MONDO:0031166 macular dystrophy, retinal MONDO:0000426 DOID:0070438 DOID:0050736 autosomal dominant disease MONDO:0031166 macular dystrophy, retinal MONDO:0003004 DOID:0070438 DOID:4448 macular degeneration MONDO:0031213 restrictive dermopathy MONDO:0005093 DOID:0060762 DOID:37 skin disorder @@ -4164,6 +4185,7 @@ MONDO:0054741 combined oxidative phosphorylation deficiency 34 MONDO:0006025 DOI MONDO:0054742 combined oxidative phosphorylation deficiency 35 MONDO:0006025 DOID:0111464 DOID:0050737 autosomal recessive disease MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 MONDO:0000426 DOID:0081378 DOID:0050736 autosomal dominant disease MONDO:0054750 amyotrophic lateral sclerosis, susceptibility to, 24 MONDO:0004976 DOID:0081378 DOID:332 amyotrophic lateral sclerosis +MONDO:0054770 orofaciodigital syndrome 18 MONDO:0006025 DOID:0060961 DOID:0050737 autosomal recessive disease MONDO:0054781 combined oxidative phosphorylation deficiency 36 MONDO:0006025 DOID:0111482 DOID:0050737 autosomal recessive disease MONDO:0054782 leukodystrophy, hypomyelinating, 15 MONDO:0006025 DOID:0070398 DOID:0050737 autosomal recessive disease MONDO:0054785 multiple mitochondrial dysfunctions syndrome 6 MONDO:0006025 DOID:0070332 DOID:0050737 autosomal recessive disease @@ -4206,6 +4228,7 @@ MONDO:0060752 neurodevelopmental disorder with spasticity and poor growth MONDO: MONDO:0060759 neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0005559 DOID:0081327 DOID:1289 neurodegenerative disease MONDO:0060764 tetraamelia syndrome 1 MONDO:0006025 DOID:0112192 DOID:0050737 autosomal recessive disease MONDO:0100036 variable age onset epilepsy MONDO:0000411 DOID:0050706 DOID:0050701 electroclinical syndrome +MONDO:0100058 hypervalinemia and hyperleucine-isoleucinemia MONDO:0006025 DOID:0060950 DOID:0050737 autosomal recessive disease MONDO:0100062 developmental and epileptic encephalopathy MONDO:0000411 DOID:0112202 DOID:0050701 electroclinical syndrome MONDO:0100062 developmental and epileptic encephalopathy MONDO:0000412 DOID:0050709 DOID:0050702 neonatal period electroclinical syndrome MONDO:0100101 fetal akinesia deformation sequence 1 MONDO:0006025 DOID:0111377 DOID:0050737 autosomal recessive disease @@ -4310,17 +4333,20 @@ MONDO:0859296 neurodevelopmental disorder with poor growth, spastic tetraplegia, MONDO:0859303 intellectual developmental disorder with ocular anomalies and distinctive facial features MONDO:0000508 DOID:0081301 DOID:0050888 syndromic intellectual disability MONDO:0859305 neurodevelopmental disorder with eye movement abnormalities and ataxia MONDO:0015802 DOID:0081275 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0859309 spastic paraplegia 88, autosomal dominant MONDO:0000426 DOID:0070457 DOID:0050736 autosomal dominant disease +MONDO:0859310 orofaciodigital syndrome 19 MONDO:0006025 DOID:0060960 DOID:0050737 autosomal recessive disease MONDO:0859314 developmental and epileptic encephalopathy 108 MONDO:0000426 DOID:0070394 DOID:0050736 autosomal dominant disease MONDO:0859323 combined oxidative phosphorylation deficiency 56 MONDO:0006025 DOID:0070429 DOID:0050737 autosomal recessive disease MONDO:0859325 developmental and epileptic encephalopathy 109 MONDO:0000426 DOID:0070378 DOID:0050736 autosomal dominant disease MONDO:0859327 developmental and epileptic encephalopathy 110 MONDO:0006025 DOID:0070395 DOID:0050737 autosomal recessive disease MONDO:0859335 congenital myopathy 15 MONDO:0000426 DOID:0081347 DOID:0050736 autosomal dominant disease MONDO:0859337 combined oxidative phosphorylation deficiency 57 MONDO:0006025 DOID:0070430 DOID:0050737 autosomal recessive disease +MONDO:0859341 hypotrichosis 15 MONDO:0006025 DOID:0060968 DOID:0050737 autosomal recessive disease MONDO:0859355 inflammatory poikiloderma with hair abnormalities and acral keratoses MONDO:0006025 DOID:0070510 DOID:0050737 autosomal recessive disease MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 MONDO:0006025 DOID:0081328 DOID:0050737 autosomal recessive disease MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia MONDO:0000426 DOID:0070455 DOID:0050736 autosomal dominant disease MONDO:0859377 neurodevelopmental disorder with poor growth and behavioral abnormalities MONDO:0019502 DOID:0081444 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0859378 leukodystrophy, hypomyelinating, 25 MONDO:0000426 DOID:0070401 DOID:0050736 autosomal dominant disease +MONDO:0859380 episodic kinesigenic dyskinesia 3 MONDO:0000426 DOID:0060944 DOID:0050736 autosomal dominant disease MONDO:0859514 congenital myopathy 18 MONDO:0000426 DOID:0081350 DOID:0050736 autosomal dominant disease MONDO:0859514 congenital myopathy 18 MONDO:0006025 DOID:0081350 DOID:0050737 autosomal recessive disease MONDO:0859515 congenital myopathy 10b, mild variant MONDO:0006025 DOID:0081345 DOID:0050737 autosomal recessive disease @@ -4358,8 +4384,12 @@ MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impair MONDO:0957576 parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development MONDO:0017279 DOID:0070486 DOID:0060894 young-onset Parkinson disease MONDO:0957583 neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities MONDO:0015802 DOID:0070513 DOID:0060307 autosomal dominant non-syndromic intellectual disability MONDO:0957810 developmental delay, dysmorphic facies, and brain anomalies MONDO:0015802 DOID:0060933 DOID:0060307 autosomal dominant non-syndromic intellectual disability +MONDO:0957921 Cornelia de Lange syndrome 6 MONDO:0000426 DOID:0060970 DOID:0050736 autosomal dominant disease MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay MONDO:0000426 DOID:0070472 DOID:0050736 autosomal dominant disease MONDO:0958196 epilepsy, early-onset, 3, with or without developmental delay MONDO:0005027 DOID:0070472 DOID:1826 epilepsy +MONDO:0958230 orofaciodigital syndrome 20 MONDO:0006025 DOID:0060962 DOID:0050737 autosomal recessive disease +MONDO:0970945 developmental and epileptic encephalopathy 116 MONDO:0000426 DOID:0070545 DOID:0050736 autosomal dominant disease +MONDO:0970945 developmental and epileptic encephalopathy 116 MONDO:0004736 DOID:0070545 DOID:9252 inborn disorder of amino acid metabolism MONDO:8000006 WHIM syndrome 1 MONDO:0000426 DOID:0060591 DOID:0050736 autosomal dominant disease MONDO:8000006 WHIM syndrome 1 MONDO:0003778 DOID:0060591 DOID:612 inborn error of immunity MONDO:8000008 Martsolf syndrome 1 MONDO:0006025 DOID:0111586 DOID:0050737 autosomal recessive disease diff --git a/src/ontology/reports/doid.subclass.confirmed.robot.tsv b/src/ontology/reports/doid.subclass.confirmed.robot.tsv index 0d37f8dc..de3d3c1c 100644 --- a/src/ontology/reports/doid.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/doid.subclass.confirmed.robot.tsv @@ -3297,6 +3297,7 @@ MONDO:0005061 lung adenocarcinoma MONDO:0004970 DOID:3910 DOID:299 adenocarcinom MONDO:0005061 lung adenocarcinoma MONDO:0005233 DOID:3910 DOID:3908 non-small cell lung carcinoma MONDO:0005067 monophasic synovial sarcoma MONDO:0010434 DOID:5495 DOID:5485 synovial sarcoma MONDO:0005074 papillary cystadenocarcinoma MONDO:0005596 DOID:3110 DOID:3111 cystadenocarcinoma +MONDO:0005075 thyroid gland papillary carcinoma MONDO:0002512 DOID:3969 DOID:3112 papillary adenocarcinoma MONDO:0005075 thyroid gland papillary carcinoma MONDO:0015447 DOID:3969 DOID:0080525 differentiated thyroid carcinoma MONDO:0005076 periodontitis MONDO:0002635 DOID:824 DOID:3388 periodontal disorder MONDO:0005080 portal hypertension MONDO:0002405 DOID:10762 DOID:272 hepatic vascular disorder @@ -4068,7 +4069,6 @@ MONDO:0006881 orbital cellulitis MONDO:0001230 DOID:11234 DOID:11230 acute orbit MONDO:0006882 orchitis MONDO:0002329 DOID:2518 DOID:2519 testicular disorder MONDO:0006883 malignant superior sulcus neoplasm MONDO:0008903 DOID:8007 DOID:1324 lung cancer MONDO:0006884 panophthalmitis MONDO:0004863 DOID:13732 DOID:9724 purulent endophthalmitis -MONDO:0006886 thyroid gland papillary and follicular carcinoma MONDO:0005075 DOID:3968 DOID:3969 thyroid gland papillary carcinoma MONDO:0006887 parametritis MONDO:0000922 DOID:1260 DOID:1003 pelvic inflammatory disease MONDO:0006889 paraphimosis MONDO:0006904 DOID:5334 DOID:2712 phimosis MONDO:0006890 parathyroid gland adenoma MONDO:0004972 DOID:7608 DOID:657 adenoma @@ -4621,6 +4621,7 @@ MONDO:0008892 progressive familial intrahepatic cholestasis type 1 MONDO:0015762 MONDO:0008903 lung cancer MONDO:0000376 DOID:1324 DOID:0050615 respiratory system cancer MONDO:0008907 PMM2-congenital disorder of glycosylation MONDO:0005500 DOID:0080552 DOID:0050570 congenital disorder of glycosylation type I MONDO:0008908 MGAT2-congenital disorder of glycosylation MONDO:0005501 DOID:0070253 DOID:0050571 congenital disorder of glycosylation type II +MONDO:0008919 systemic primary carnitine deficiency disease MONDO:0004736 DOID:14365 DOID:9252 inborn disorder of amino acid metabolism MONDO:0008922 Sengers syndrome MONDO:0018158 DOID:0080132 DOID:0070329 mitochondrial DNA depletion syndrome MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia MONDO:0019287 DOID:0111245 DOID:2121 ectodermal dysplasia syndrome MONDO:0008944 Joubert syndrome 1 MONDO:0018772 DOID:0110980 DOID:0050777 Joubert syndrome @@ -4807,6 +4808,7 @@ MONDO:0009624 microcephaly and chorioretinopathy 1 MONDO:0002254 DOID:0080105 DO MONDO:0009626 pseudo-TORCH syndrome MONDO:0006025 DOID:0050656 DOID:0050737 autosomal recessive disease MONDO:0009627 Galloway-Mowat syndrome MONDO:0002254 DOID:0080694 DOID:225 syndromic disease MONDO:0009631 isolated microphthalmia 1 MONDO:0000062 DOID:0060840 DOID:0080637 isolated microphthalmia +MONDO:0009642 orofaciodigital syndrome type II MONDO:0015375 DOID:0060959 DOID:4501 orofaciodigital syndrome MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:0020480 DOID:0111164 DOID:0111165 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0020480 DOID:0111163 DOID:0111165 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0009655 mucopolysaccharidosis type 3A MONDO:0018937 DOID:0111395 DOID:12801 mucopolysaccharidosis type 3 @@ -4983,6 +4985,7 @@ MONDO:0010215 xeroderma pigmentosum group F MONDO:0019600 DOID:0110848 DOID:0050 MONDO:0010216 xeroderma pigmentosum group G MONDO:0019600 DOID:0110849 DOID:0050427 xeroderma pigmentosum MONDO:0010218 46,XX sex reversal 2 MONDO:0100249 DOID:0111763 DOID:0111760 46,XX testicular disorder of sex development MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome MONDO:0002254 DOID:0112151 DOID:225 syndromic disease +MONDO:0010225 Dent disease type 1 MONDO:0015612 DOID:0081453 DOID:0050699 Dent disease MONDO:0010226 46,XY sex reversal 2 MONDO:0010765 DOID:0111777 DOID:14448 46,XY complete gonadal dysgenesis MONDO:0010227 retinitis pigmentosa 3 MONDO:0019200 DOID:0110414 DOID:10584 retinitis pigmentosa MONDO:0010228 hearing loss, X-linked 3 MONDO:0019586 DOID:0111736 DOID:0050566 X-linked nonsyndromic hearing loss @@ -5039,6 +5042,7 @@ MONDO:0010351 Fanconi anemia complementation group B MONDO:0019391 DOID:0111098 MONDO:0010352 intellectual disability, X-linked 82 MONDO:0019181 DOID:0112052 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type MONDO:0020119 DOID:0060809 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010358 hypophosphatemic rickets, X-linked recessive MONDO:0020605 DOID:0080353 DOID:0080012 X-linked recessive disease +MONDO:0010359 Dent disease type 2 MONDO:0015612 DOID:0081454 DOID:0050699 Dent disease MONDO:0010361 intellectual disability, X-linked 30 MONDO:0019181 DOID:0112051 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010363 intellectual disability, X-linked 91 MONDO:0019181 DOID:0112043 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010365 myopathy, congenital, with fiber-type disproportion, X-linked MONDO:0009711 DOID:0111226 DOID:0080102 congenital fiber-type disproportion myopathy @@ -6469,6 +6473,7 @@ MONDO:0014400 retinitis pigmentosa 70 MONDO:0019200 DOID:0110392 DOID:10584 reti MONDO:0014409 intellectual disability, autosomal recessive 44 MONDO:0019502 DOID:0081208 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0014412 hyperlipoproteinemia, type 1D MONDO:0006025 DOID:0111420 DOID:0050737 autosomal recessive disease MONDO:0014412 hyperlipoproteinemia, type 1D MONDO:0018637 DOID:0111420 DOID:0111417 familial chylomicronemia syndrome +MONDO:0014413 orofaciodigital syndrome type 14 MONDO:0015375 DOID:0060958 DOID:4501 orofaciodigital syndrome MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 MONDO:0009049 DOID:0111624 DOID:0111622 Cushing syndrome due to macronodular adrenal hyperplasia MONDO:0014418 myopathy, centronuclear, 5 MONDO:0015705 DOID:0111222 DOID:0111216 autosomal recessive centronuclear myopathy MONDO:0014427 cone-rod dystrophy 20 MONDO:0015993 DOID:0111026 DOID:0050572 cone-rod dystrophy @@ -6564,6 +6569,7 @@ MONDO:0014650 familial temporal lobe epilepsy 8 MONDO:0005115 DOID:0060754 DOID: MONDO:0014651 acrofacial dysostosis Cincinnati type MONDO:0018237 DOID:0060353 DOID:0060379 acrofacial dysostosis MONDO:0014652 exudative vitreoretinopathy 6 MONDO:0019516 DOID:0111410 DOID:0050535 exudative vitreoretinopathy MONDO:0014653 retinitis pigmentosa 72 MONDO:0019200 DOID:0110395 DOID:10584 retinitis pigmentosa +MONDO:0014654 Ullrich congenital muscular dystrophy 2 MONDO:0000355 DOID:0060948 DOID:0050558 Ullrich congenital muscular dystrophy MONDO:0014657 primary ciliary dyskinesia 32 MONDO:0016575 DOID:0110603 DOID:9562 primary ciliary dyskinesia MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0000426 DOID:0111158 DOID:0050736 autosomal dominant disease MONDO:0014660 microcephaly 15, primary, autosomal recessive MONDO:0016660 DOID:0070277 DOID:0070296 autosomal recessive primary microcephaly @@ -7349,6 +7355,8 @@ MONDO:0026721 mitochondrial complex 1 deficiency, nuclear type 30 MONDO:0100223 MONDO:0026724 Paganini-Miozzo syndrome MONDO:0020119 DOID:0111843 DOID:0060309 X-linked syndromic intellectual disability MONDO:0026726 nephrotic syndrome, type 20 MONDO:0002350 DOID:0070357 DOID:2590 familial nephrotic syndrome MONDO:0026729 congenital disorder of glycosylation, type ICC MONDO:0005500 DOID:0111839 DOID:0050570 congenital disorder of glycosylation type I +MONDO:0026763 holoprosencephaly 13, X-linked MONDO:0016296 DOID:0060954 DOID:4621 holoprosencephaly +MONDO:0026763 holoprosencephaly 13, X-linked MONDO:0020605 DOID:0060954 DOID:0080012 X-linked recessive disease MONDO:0026771 developmental and epileptic encephalopathy, 85, with or without midline brain defects MONDO:0100062 DOID:0070380 DOID:0112202 developmental and epileptic encephalopathy MONDO:0027048 deafness, Y-linked 2 MONDO:0033304 DOID:0111758 DOID:0111757 nonsyndromic deafness, Y-linked MONDO:0027069 mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 MONDO:0014471 DOID:0111748 DOID:0111143 mitochondrial proton-transporting ATP synthase complex deficiency @@ -7380,9 +7388,11 @@ MONDO:0030054 developmental and epileptic encephalopathy, 86 MONDO:0100062 DOID: MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 MONDO:0015363 DOID:0081427 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0030058 hearing loss, autosomal dominant 77 MONDO:0019587 DOID:0112168 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0030059 developmental and epileptic encephalopathy, 87 MONDO:0100062 DOID:0112221 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0030064 episodic ataxia, type 9 MONDO:0016227 DOID:0060965 DOID:963 hereditary episodic ataxia MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5 MONDO:0018305 DOID:0070368 DOID:3265 chronic granulomatous disease MONDO:0030067 Treacher Collins syndrome 4 MONDO:0002457 DOID:0080792 DOID:2908 Treacher-Collins syndrome MONDO:0030072 developmental and epileptic encephalopathy, 88 MONDO:0100062 DOID:0112222 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0030105 galactosemia 4 MONDO:0018116 DOID:0060969 DOID:9870 galactosemia MONDO:0030134 oculopharyngodistal myopathy 2 MONDO:0025193 DOID:0081298 DOID:0081296 oculopharyngodistal myopathy MONDO:0030258 pontocerebellar hypoplasia, type 14 MONDO:0020135 DOID:0112325 DOID:0060264 pontocerebellar hypoplasia MONDO:0030259 pontocerebellar hypoplasia, type 15 MONDO:0020135 DOID:0112326 DOID:0060264 pontocerebellar hypoplasia @@ -7408,6 +7418,7 @@ MONDO:0030472 developmental and epileptic encephalopathy 98 MONDO:0100062 DOID:0 MONDO:0030473 developmental and epileptic encephalopathy 99 MONDO:0100062 DOID:0070385 DOID:0112202 developmental and epileptic encephalopathy MONDO:0030492 spermatogenic failure 59 MONDO:0004983 DOID:0112357 DOID:0111910 spermatogenic failure MONDO:0030493 spermatogenic failure 60 MONDO:0004983 DOID:0112355 DOID:0111910 spermatogenic failure +MONDO:0030500 Loeys-Dietz syndrome 6 MONDO:0018954 DOID:0060964 DOID:0050466 Loeys-Dietz syndrome MONDO:0030507 spermatogenic failure 61 MONDO:0004983 DOID:0112350 DOID:0111910 spermatogenic failure MONDO:0030508 spermatogenic failure 62 MONDO:0004983 DOID:0112351 DOID:0111910 spermatogenic failure MONDO:0030514 leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy MONDO:0019046 DOID:0070397 DOID:0060786 leukodystrophy @@ -7770,6 +7781,7 @@ MONDO:0054740 blepharocheilodontic syndrome 1 MONDO:0007339 DOID:0080345 DOID:00 MONDO:0054741 combined oxidative phosphorylation deficiency 34 MONDO:0000732 DOID:0111497 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0054742 combined oxidative phosphorylation deficiency 35 MONDO:0000732 DOID:0111464 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0054752 multiple synostoses syndrome 4 MONDO:0017923 DOID:0081320 DOID:0050794 multiple synostoses syndrome +MONDO:0054770 orofaciodigital syndrome 18 MONDO:0015375 DOID:0060961 DOID:4501 orofaciodigital syndrome MONDO:0054776 epilepsy, familial focal, with variable foci 4 MONDO:0020310 DOID:0081424 DOID:0081420 familial focal epilepsy with variable foci MONDO:0054781 combined oxidative phosphorylation deficiency 36 MONDO:0000732 DOID:0111482 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0054782 leukodystrophy, hypomyelinating, 15 MONDO:0019046 DOID:0070398 DOID:0060786 leukodystrophy @@ -7785,6 +7797,7 @@ MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 MONDO:0020364 DOID:00 MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD MONDO:0000426 DOID:0111558 DOID:0050736 autosomal dominant disease MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD MONDO:0018993 DOID:0111558 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0054835 classic dopamine transporter deficiency syndrome MONDO:0700117 DOID:0070489 DOID:0070487 SLC6A3-related dopamine transporter deficiency syndrome +MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease MONDO:0004691 DOID:0060951 DOID:898 autosomal dominant polycystic kidney disease MONDO:0054843 ciliary dyskinesia, primary, 38 MONDO:0016575 DOID:0111852 DOID:9562 primary ciliary dyskinesia MONDO:0054845 developmental and epileptic encephalopathy, 66 MONDO:0100062 DOID:0080446 DOID:0112202 developmental and epileptic encephalopathy MONDO:0054846 epilepsy, familial adult myoclonic, 6 MONDO:0000160 DOID:0111696 DOID:0111689 epilepsy, familial adult myoclonic @@ -7859,6 +7872,7 @@ MONDO:0700251 orofacial cleft 7 MONDO:0000358 DOID:0080400 DOID:0050567 orofacia MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0030639 DOID:0080698 DOID:0081073 Teebi hypertelorism syndrome MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0001292 DOID:0060731 DOID:11465 autonomic nervous system disorder MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0019046 DOID:0080523 DOID:10579 leukodystrophy +MONDO:0800029 interstitial lung disease 2 MONDO:0002771 DOID:0050156 DOID:3770 pulmonary fibrosis MONDO:0800042 restrictive dermopathy 1 MONDO:0031213 DOID:0070369 DOID:0060762 restrictive dermopathy MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0019214 DOID:0060728 DOID:2978 inborn carbohydrate metabolic disorder MONDO:0800366 dyskeratosis congenita, autosomal dominant 4 MONDO:0015780 DOID:0070020 DOID:2729 dyskeratosis congenita @@ -8002,12 +8016,14 @@ MONDO:0859245 spinocerebellar ataxia, autosomal recessive 32 MONDO:0015244 DOID: MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 MONDO:0015363 DOID:0081425 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 MONDO:0015362 DOID:0081399 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0859309 spastic paraplegia 88, autosomal dominant MONDO:0019064 DOID:0070457 DOID:2476 hereditary spastic paraplegia +MONDO:0859310 orofaciodigital syndrome 19 MONDO:0015375 DOID:0060960 DOID:4501 orofaciodigital syndrome MONDO:0859314 developmental and epileptic encephalopathy 108 MONDO:0100062 DOID:0070394 DOID:0112202 developmental and epileptic encephalopathy MONDO:0859323 combined oxidative phosphorylation deficiency 56 MONDO:0000732 DOID:0070429 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0859325 developmental and epileptic encephalopathy 109 MONDO:0100062 DOID:0070378 DOID:0112202 developmental and epileptic encephalopathy MONDO:0859327 developmental and epileptic encephalopathy 110 MONDO:0100062 DOID:0070395 DOID:0112202 developmental and epileptic encephalopathy MONDO:0859335 congenital myopathy 15 MONDO:0019952 DOID:0081347 DOID:0081337 congenital myopathy MONDO:0859337 combined oxidative phosphorylation deficiency 57 MONDO:0000732 DOID:0070430 DOID:0060286 combined oxidative phosphorylation deficiency +MONDO:0859341 hypotrichosis 15 MONDO:0003037 DOID:0060968 DOID:4535 hypotrichosis MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 MONDO:0015244 DOID:0070414 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 MONDO:0005803 DOID:0081328 DOID:13317 hyperinsulinemic hypoglycemia MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia MONDO:0019064 DOID:0070455 DOID:2476 hereditary spastic paraplegia @@ -8083,6 +8099,7 @@ MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 MONDO MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 MONDO:0015362 DOID:0081400 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 MONDO:0015363 DOID:0081429 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0957896 metabolic dysfunction and alcohol associated liver disease MONDO:0004790 DOID:0070508 DOID:9452 fatty liver disease +MONDO:0957921 Cornelia de Lange syndrome 6 MONDO:0016033 DOID:0060970 DOID:11725 Cornelia de Lange syndrome MONDO:0957928 otosclerosis 11 MONDO:0005349 DOID:0060928 DOID:12185 otosclerosis MONDO:0958150 Borrelia miyamotoi disease MONDO:0000314 DOID:0070527 DOID:0050338 primary bacterial infectious disease MONDO:0958151 cepacia syndrome MONDO:0000316 DOID:0070528 DOID:0050340 opportunistic bacterial infectious disease @@ -8096,6 +8113,7 @@ MONDO:0958180 prolonged electroretinal response suppression 1 MONDO:0012033 DOID MONDO:0958184 epidermolytic hyperkeratosis 2 MONDO:0007239 DOID:0081359 DOID:4603 epidermolytic ichthyosis MONDO:0958189 basal cell nevus syndrome 2 MONDO:0007187 DOID:0070366 DOID:2512 nevoid basal cell carcinoma syndrome MONDO:0958190 prolonged electroretinal response suppression 2 MONDO:0012033 DOID:0070364 DOID:0050335 bradyopsia +MONDO:0958230 orofaciodigital syndrome 20 MONDO:0015375 DOID:0060962 DOID:4501 orofaciodigital syndrome MONDO:0958235 Ullrich congenital muscular dystrophy 1B MONDO:0000355 DOID:0060942 DOID:0050558 Ullrich congenital muscular dystrophy MONDO:0958236 Ullrich congenital muscular dystrophy 1C MONDO:0000355 DOID:0060943 DOID:0050558 Ullrich congenital muscular dystrophy MONDO:0958295 BCOR ITD sarcoma MONDO:0958159 DOID:0081403 DOID:0081402 sarcoma with BCOR genetic alterations @@ -8109,6 +8127,7 @@ MONDO:0958302 TFEB-rearranged renal cell carcinoma MONDO:0017886 DOID:0081414 DO MONDO:0958303 childhood renal cell carcinoma with MiT translocations MONDO:0017886 DOID:0081416 DOID:0081413 MIT family translocation renal cell carcinoma MONDO:0968944 intellectual developmental disorder, autosomal recessive 82 MONDO:0019502 DOID:0060947 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0968974 large B-cell lymphoma MONDO:0004095 DOID:0081452 DOID:707 B-cell neoplasm +MONDO:0970945 developmental and epileptic encephalopathy 116 MONDO:0100062 DOID:0070545 DOID:0112202 developmental and epileptic encephalopathy MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0000858 DOID:0080679 DOID:0080072 neuronal intestinal dysplasia MONDO:8000018 benign paroxysmal positional vertigo MONDO:0004900 DOID:13941 DOID:9847 peripheral vertigo MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD MONDO:0017979 DOID:0110119 DOID:6688 autoimmune lymphoproliferative syndrome diff --git a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv index 93cf03e4..ab300ca6 100644 --- a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv +++ b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs.tsv @@ -2,6 +2,7 @@ term_id term_label 1_in_mirror_tsv 2_in_component_tsv 3_in_mondo_xrefs in1_notIn DOID:6809 obsolete vaginal tubular adenoma True False True True DOID:10919 obsolete transsexualism True False True True DOID:0050068 obsolete pestis minor True False True True +DOID:3968 obsolete papillary follicular thyroid adenocarcinoma True False True True DOID:0111201 obsolete distal hereditary motor neuronopathy type 7A True False True True DOID:0111204 obsolete distal hereditary motor neuronopathy type 5A True False True True DOID:0111208 obsolete distal hereditary motor neuronopathy type 2A True False True True diff --git a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv index 15b2be10..0c739b25 100644 --- a/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv +++ b/src/ontology/reports/doid_excluded_terms_in_mondo_xrefs_summary.tsv @@ -1,2 +1,2 @@ n_in1_notIn2_in3 pct_in1_notIn2_in3__over_in1 -14 0.001 +15 0.0011 diff --git a/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv b/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv index 49a80413..2119f93a 100644 --- a/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv +++ b/src/ontology/reports/doid_exclusion_reasons.robot.template.tsv @@ -1605,6 +1605,7 @@ DOID:3909 MONDO:excludeNonDisease DOID:3914 MONDO:excludeNonDisease DOID:3916 MONDO:excludeNonDisease DOID:3939 MONDO:excludeNonDisease +DOID:3968 MONDO:excludeNonDisease DOID:3974 MONDO:excludeNonDisease DOID:398 MONDO:excludeNonDisease DOID:3984 MONDO:excludeNonDisease diff --git a/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv index 6fcf95dc..34eb6acb 100644 --- a/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/doid_mapped_deprecated_terms.robot.template.tsv @@ -1,6 +1,7 @@ mondo_id source_id source ID A oboInOwl:hasDbXref >A oboInOwl:source MONDO:0001639 DOID:13121 MONDO:equivalentObsolete +MONDO:0006886 DOID:3968 MONDO:equivalentObsolete MONDO:0008024 DOID:0111201 MONDO:equivalentObsolete MONDO:0008025 DOID:0111208 MONDO:equivalentObsolete MONDO:0013127 DOID:0050549 MONDO:equivalentObsolete diff --git a/src/ontology/reports/doid_mapping_status.tsv b/src/ontology/reports/doid_mapping_status.tsv index 50b3ac5e..e0ae8ceb 100644 --- a/src/ontology/reports/doid_mapping_status.tsv +++ b/src/ontology/reports/doid_mapping_status.tsv @@ -1,31 +1,30 @@ subject_id subject_label is_mapped is_excluded is_deprecated DOID:0060160 childhood spinal muscular atrophy False False False DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 False False False -DOID:0060948 Ullrich congenital muscular dystrophy 2 False False False -DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency False False False -DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia False False False -DOID:0060951 polycystic kidney disease 6 False False False -DOID:0060952 polycystic kidney disease 7 False False False -DOID:0060953 ZTTK syndrome False False False -DOID:0060954 Holoprosencephaly 13, X-linked False False False -DOID:0060958 orofaciodigital syndrome XIV False False False -DOID:0060959 orofaciodigital syndrome II False False False -DOID:0060960 orofaciodigital syndrome XIX False False False -DOID:0060961 orofaciodigital syndrome XVIII False False False -DOID:0060962 orofaciodigital syndrome XX False False False -DOID:0060964 Loeys-Dietz syndrome 6 False False False -DOID:0060965 episodic ataxia type 9 False False False -DOID:0060968 hypotrichosis 15 False False False -DOID:0060969 galactosemia 4 False False False -DOID:0060970 Cornelia de Lange syndrome 6 False False False -DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency False False False -DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency False False False -DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly False False False -DOID:0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities False False False -DOID:0070544 congenital glutamine deficiency False False False -DOID:0070545 developmental and epileptic encephalopathy 116 False False False -DOID:0081453 Dent disease 1 False False False -DOID:0081454 Dent disease 2 False False False +DOID:0060971 interstitial lung disease 2 False False False +DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy False False False +DOID:0060973 WHIM syndrome 2 False False False +DOID:0060974 autosomal recessive Robinow syndrome 2 False False False +DOID:0060975 polycystic liver disease 2 False False False +DOID:0060976 polycystic liver disease 3 with or without kidney cysts False False False +DOID:0060977 polycystic liver disease 4 with or without kidney cysts False False False +DOID:0070546 primary pigmented nodular adrenocortical disease 1 False False False +DOID:0070547 primary pigmented nodular adrenocortical disease 2 False False False +DOID:0070548 primary pigmented nodular adrenocortical disease 3 False False False +DOID:0070549 primary pigmented nodular adrenocortical disease 4 False False False +DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma False False False +DOID:0070551 epidermolytic palmoplantar keratoderma 2 False False False +DOID:0070552 epidermolytic palmoplantar keratoderma 1 False False False +DOID:0070553 focal palmoplantar and gingival keratosis False False False +DOID:0070554 palmoplantar keratoderma and woolly hair False False False +DOID:0070555 Nagashima-type palmoplantar keratosis False False False +DOID:0081455 auto-brewery syndrome False False False +DOID:0081456 bladder fermentation syndrome False False False +DOID:0081457 intrathyroid thymic carcinoma False False False +DOID:0081458 thyroid gland cribriform morular carcinoma False False False +DOID:0081459 thyroid gland mixed medullary and follicular cell-derived carcinoma False False False +DOID:0081460 thyroid gland mucinous carcinoma False False False +DOID:0081461 thyroid gland spindle epithelial tumor with thymus-like elements False False False DOID:0111368 cholesterol-ester transfer protein deficiency False False False DOID:146 papilledema False False False DOID:2536 chronic inflammatory demyelinating polyneuritis False False False @@ -2680,7 +2679,7 @@ DOID:0050150 Pontiac fever True False False DOID:0050152 aspiration pneumonia True False False DOID:0050153 pulmonary aspergilloma True False False DOID:0050155 sensory system disease True False False -DOID:0050156 interstitial lung disease 2 True False False +DOID:0050156 idiopathic pulmonary fibrosis True False False DOID:0050157 cryptogenic organizing pneumonia True False False DOID:0050158 desquamative interstitial pneumonia True False False DOID:0050159 lymphoid interstitial pneumonia True False False @@ -3775,7 +3774,7 @@ DOID:0060587 Noonan syndrome 9 True False False DOID:0060588 Noonan syndrome 10 True False False DOID:0060589 Yunis-Varon syndrome True False False DOID:0060590 XFE progeroid syndrome True False False -DOID:0060591 WHIM syndrome True False False +DOID:0060591 WHIM syndrome 1 True False False DOID:0060592 B-cell adult acute lymphocytic leukemia True False False DOID:0060597 atypical chronic myeloid leukemia, BCR-ABL1 negative True False False DOID:0060599 Nance-Horan syndrome True False False @@ -4065,12 +4064,29 @@ DOID:0060944 episodic kinesigenic dyskinesia 3 True False False DOID:0060945 amelogenesis imperfecta type 1K True False False DOID:0060946 Ullrich congenital muscular dystrophy 1A True False False DOID:0060947 autosomal recessive intellectual developmental disorder 82 True False False +DOID:0060948 Ullrich congenital muscular dystrophy 2 True False False +DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency True False False +DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia True False False +DOID:0060951 polycystic kidney disease 6 True False False +DOID:0060952 polycystic kidney disease 7 True False False +DOID:0060953 ZTTK syndrome True False False +DOID:0060954 Holoprosencephaly 13, X-linked True False False DOID:0060955 dystonia 35, childhood-onset True False False DOID:0060956 dystonia 37, early-onset with striatal lesions True False False DOID:0060957 myoclonic dystonia 34 True False False +DOID:0060958 orofaciodigital syndrome XIV True False False +DOID:0060959 orofaciodigital syndrome II True False False +DOID:0060960 orofaciodigital syndrome XIX True False False +DOID:0060961 orofaciodigital syndrome XVIII True False False +DOID:0060962 orofaciodigital syndrome XX True False False DOID:0060963 dystonia, DOPA-responsive True False False +DOID:0060964 Loeys-Dietz syndrome 6 True False False +DOID:0060965 episodic ataxia type 9 True False False DOID:0060966 dystonia 22, juvenile-onset True False False DOID:0060967 dystonia 22, adult-onset True False False +DOID:0060968 hypotrichosis 15 True False False +DOID:0060969 galactosemia 4 True False False +DOID:0060970 Cornelia de Lange syndrome 6 True False False DOID:0070000 3-methylglutaconic aciduria type 8 True False False DOID:0070002 3-methylglutaconic aciduria type 9 True False False DOID:0070003 blastoma True False False @@ -4593,6 +4609,12 @@ DOID:0070536 neurodevelopmental disorder with hypotonia, language delay, and ske DOID:0070537 spastic tetraplegia, thin corpus callosum, and progressive microcephaly True False False DOID:0070538 syndromic X-linked intellectual developmental disorder bain type True False False DOID:0070539 Halperin-Birk syndrome True False False +DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency True False False +DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency True False False +DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly True False False +DOID:0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities True False False +DOID:0070544 congenital glutamine deficiency True False False +DOID:0070545 developmental and epileptic encephalopathy 116 True False False DOID:0080000 muscular disease True False False DOID:0080001 bone disease True False False DOID:0080005 bone remodeling disease True False False @@ -5084,10 +5106,10 @@ DOID:0080518 Meier-Gorlin syndrome 7 True False False DOID:0080519 PAPA syndrome True False False DOID:0080520 Tn polyagglutination syndrome True False False DOID:0080521 lung non-squamous non-small cell carcinoma True False False -DOID:0080522 thyroid gland anaplastic carcinoma True False False +DOID:0080522 anaplastic thyroid carcinoma True False False DOID:0080523 adult-onset leukoencephalopathy with axonal spheroids and pigmented glia True False False DOID:0080524 thyroid gland adenocarcinoma True False False -DOID:0080525 differentiated thyroid gland carcinoma True False False +DOID:0080525 differentiated high-grade thyroid carcinoma True False False DOID:0080526 bronchiectasis 1 True False False DOID:0080527 bronchiectasis 2 True False False DOID:0080528 bronchiectasis 3 True False False @@ -5138,8 +5160,8 @@ DOID:0080573 congenital disorder of glycosylation Ix True False False DOID:0080574 congenital disorder of glycosylation Iy True False False DOID:0080575 Larsen-like syndrome B3GAT3 type True False False DOID:0080576 spondyloepimetaphyseal dysplasia, Genevieve-type True False False -DOID:0080579 3-Methylcrotonyl-CoA carboxylase 1 deficiency True False False -DOID:0080580 3-Methylcrotonyl-CoA carboxylase 2 deficiency True False False +DOID:0080579 3-methylcrotonyl-CoA carboxylase 1 deficiency True False False +DOID:0080580 3-methylcrotonyl-CoA carboxylase 2 deficiency True False False DOID:0080581 hyperekplexia 4 True False False DOID:0080582 hypotrichosis 14 True False False DOID:0080583 Wolfram syndrome, mitochondrial form True False False @@ -5958,6 +5980,8 @@ DOID:0081449 cone-rod dystrophy 24 True False False DOID:0081450 hyperimmunoglobulinemia D periodic fever syndrome True False False DOID:0081451 PFAPA syndrome True False False DOID:0081452 large B-cell lymphoma True False False +DOID:0081453 Dent disease 1 True False False +DOID:0081454 Dent disease 2 True False False DOID:0090001 Fraser syndrome True False False DOID:0090002 Tietz syndrome True False False DOID:0090003 agenesis of the corpus callosum with peripheral neuropathy True False False @@ -11306,14 +11330,13 @@ DOID:3952 adrenal cortex disease True False False DOID:3953 adrenal gland cancer True False False DOID:3959 adrenal cortical adenocarcinoma True False False DOID:396 Loeffler endocarditis True False False -DOID:3962 thyroid gland follicular carcinoma True False False +DOID:3962 follicular thyroid carcinoma True False False DOID:3963 thyroid gland carcinoma True False False DOID:3964 trabecular follicular adenocarcinoma True False False DOID:3965 Merkel cell carcinoma True False False -DOID:3968 papillary follicular thyroid adenocarcinoma True False False -DOID:3969 thyroid gland papillary carcinoma True False False +DOID:3969 papillary thyroid carcinoma True False False DOID:397 restrictive cardiomyopathy True False False -DOID:3973 thyroid gland medullary carcinoma True False False +DOID:3973 medullary thyroid carcinoma True False False DOID:3978 extrinsic cardiomyopathy True False False DOID:3981 pantothenate kinase-associated neurodegeneration True False False DOID:3982 Meige syndrome True False False @@ -12426,7 +12449,7 @@ DOID:5907 penis non-invasive verrucous carcinoma True False False DOID:5908 penis verrucous carcinoma True False False DOID:591 phobic disorder True False False DOID:5913 brachial plexus neoplasm True False False -DOID:5914 nonencapsulated sclerosing carcinoma True False False +DOID:5914 diffuse sclerosing papillary thyroid carcinoma True False False DOID:5915 uterus intravascular leiomyomatosis True False False DOID:5916 uterine corpus leiomyomatosis True False False DOID:5917 uterine corpus diffuse leiomyomatosis True False False @@ -12894,8 +12917,8 @@ DOID:7077 malignant melanocytic peripheral nerve sheath tumor of mediastinum Tru DOID:7079 adult cystic teratoma True False False DOID:7081 lung mixed small cell and squamous cell carcinoma True False False DOID:7086 multicentric papillary thyroid carcinoma True False False -DOID:7088 columnar cell variant papillary carcinoma True False False -DOID:7089 tall cell variant papillary carcinoma True False False +DOID:7088 columnar cell papillary thyroid carcinoma True False False +DOID:7089 tall cell papillary thyroid carcinoma True False False DOID:709 splenic manifestation of hairy cell leukemia True False False DOID:7095 childhood epithelioid sarcoma True False False DOID:7097 macrocystic pattern testicular yolk sac tumor True False False @@ -13300,7 +13323,7 @@ DOID:8150 pancreatic invasive intraductal papillary-mucinous carcinoma True Fals DOID:8151 appendiceal L-cell glucagon-like peptide producing tumor True False False DOID:8153 fibroosseous pseudotumor of digits True False False DOID:8158 complement component 5 deficiency True False False -DOID:8161 thyroid gland Hurthle cell carcinoma True False False +DOID:8161 oncocytic carcinoma of the thyroid True False False DOID:8162 thyroid Hurthle cell adenoma True False False DOID:8167 gallbladder melanoma True False False DOID:817 interstitial myocarditis True False False @@ -14053,6 +14076,7 @@ DOID:0111208 obsolete distal hereditary motor neuronopathy type 2A True True Tru DOID:10919 obsolete transsexualism True True True DOID:13121 obsolete deficiency anemia True True True DOID:1634 obsolete breast papillomatosis True True True +DOID:3968 obsolete papillary follicular thyroid adenocarcinoma True True True DOID:5209 obsolete benign struma ovarii True True True DOID:6809 obsolete vaginal tubular adenoma True True True DOID:7922 obsolete benign mediastinal neurilemmoma True True True diff --git a/src/ontology/reports/doid_term_exclusions.txt b/src/ontology/reports/doid_term_exclusions.txt index f1c66c3a..c028d07d 100644 --- a/src/ontology/reports/doid_term_exclusions.txt +++ b/src/ontology/reports/doid_term_exclusions.txt @@ -1605,6 +1605,7 @@ DOID:3909 DOID:3914 DOID:3916 DOID:3939 +DOID:3968 DOID:3974 DOID:398 DOID:3984 diff --git a/src/ontology/reports/doid_unmapped_terms.tsv b/src/ontology/reports/doid_unmapped_terms.tsv index 49ee6967..99c40871 100644 --- a/src/ontology/reports/doid_unmapped_terms.tsv +++ b/src/ontology/reports/doid_unmapped_terms.tsv @@ -1,35 +1,34 @@ subject_id subject_label -DOID:0070541 3-hydroxy-3-methylglutaryl-CoA lyase deficiency -DOID:0060949 3-hydroxyisobutryl-CoA hydrolase deficiency -DOID:0060970 Cornelia de Lange syndrome 6 -DOID:0081453 Dent disease 1 -DOID:0081454 Dent disease 2 -DOID:0060954 Holoprosencephaly 13, X-linked -DOID:0060964 Loeys-Dietz syndrome 6 -DOID:0060948 Ullrich congenital muscular dystrophy 2 -DOID:0060953 ZTTK syndrome +DOID:0070550 KRT1-related nonepidermolytic palmoplantar keratoderma +DOID:0070555 Nagashima-type palmoplantar keratosis +DOID:0060973 WHIM syndrome 2 DOID:2934 aleutian mink disease +DOID:0081455 auto-brewery syndrome +DOID:0060974 autosomal recessive Robinow syndrome 2 +DOID:0081456 bladder fermentation syndrome DOID:5154 borna disease DOID:0060160 childhood spinal muscular atrophy DOID:0111368 cholesterol-ester transfer protein deficiency DOID:2536 chronic inflammatory demyelinating polyneuritis -DOID:0070544 congenital glutamine deficiency DOID:4668 congenital kyphosis -DOID:0070545 developmental and epileptic encephalopathy 116 -DOID:0060965 episodic ataxia type 9 -DOID:0060969 galactosemia 4 -DOID:0060950 hypervalinemia and hyperleucine-isoleucinemia -DOID:0060968 hypotrichosis 15 +DOID:0070552 epidermolytic palmoplantar keratoderma 1 +DOID:0070551 epidermolytic palmoplantar keratoderma 2 +DOID:0070553 focal palmoplantar and gingival keratosis +DOID:0060971 interstitial lung disease 2 +DOID:0081457 intrathyroid thymic carcinoma DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 -DOID:0070540 mitochondrial short-chain enoyl-CoA hydratase 1 deficiency -DOID:0070543 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities -DOID:0070542 neurodevelopmental disorder with spastic paraplegia and microcephaly -DOID:0060959 orofaciodigital syndrome II -DOID:0060958 orofaciodigital syndrome XIV -DOID:0060960 orofaciodigital syndrome XIX -DOID:0060961 orofaciodigital syndrome XVIII -DOID:0060962 orofaciodigital syndrome XX +DOID:0070554 palmoplantar keratoderma and woolly hair DOID:146 papilledema -DOID:0060951 polycystic kidney disease 6 -DOID:0060952 polycystic kidney disease 7 +DOID:0060975 polycystic liver disease 2 +DOID:0060976 polycystic liver disease 3 with or without kidney cysts +DOID:0060977 polycystic liver disease 4 with or without kidney cysts DOID:9373 postural kyphosis +DOID:0070546 primary pigmented nodular adrenocortical disease 1 +DOID:0070547 primary pigmented nodular adrenocortical disease 2 +DOID:0070548 primary pigmented nodular adrenocortical disease 3 +DOID:0070549 primary pigmented nodular adrenocortical disease 4 +DOID:0060972 renal hypomagnesemia 7, with or without dilated cardiomyopathy +DOID:0081458 thyroid gland cribriform morular carcinoma +DOID:0081459 thyroid gland mixed medullary and follicular cell-derived carcinoma +DOID:0081460 thyroid gland mucinous carcinoma +DOID:0081461 thyroid gland spindle epithelial tumor with thymus-like elements diff --git a/src/ontology/reports/icd10cm_mapping_status.tsv b/src/ontology/reports/icd10cm_mapping_status.tsv index 585e54f1..edee257d 100644 --- a/src/ontology/reports/icd10cm_mapping_status.tsv +++ b/src/ontology/reports/icd10cm_mapping_status.tsv @@ -13484,7 +13484,6 @@ ICD10CM:L13.1 Subcorneal pustular dermatitis False False False ICD10CM:L13.8 Other specified bullous disorders False False False ICD10CM:L13.9 Bullous disorder, unspecified False False False ICD10CM:L14 Bullous disorders in diseases classified elsewhere False False False -ICD10CM:L20 Atopic dermatitis False False False ICD10CM:L20-L30 Dermatitis and eczema (L20-L30) False False False ICD10CM:L20.0 Besnier's prurigo False False False ICD10CM:L20.8 Other atopic dermatitis False False False @@ -95530,6 +95529,7 @@ ICD10CM:L10.81 Paraneoplastic pemphigus True False False ICD10CM:L12.0 Bullous pemphigoid True False False ICD10CM:L12.3 Acquired epidermolysis bullosa True False False ICD10CM:L13.0 Dermatitis herpetiformis True False False +ICD10CM:L20 Atopic dermatitis True False False ICD10CM:L23 Allergic contact dermatitis True False False ICD10CM:L40 Psoriasis True False False ICD10CM:L40.1 Generalized pustular psoriasis True False False diff --git a/src/ontology/reports/icd10cm_unmapped_terms.tsv b/src/ontology/reports/icd10cm_unmapped_terms.tsv index d84b01a9..08439600 100644 --- a/src/ontology/reports/icd10cm_unmapped_terms.tsv +++ b/src/ontology/reports/icd10cm_unmapped_terms.tsv @@ -3622,7 +3622,6 @@ ICD10CM:I25.118 Atherosclerotic heart disease of native coronary artery with oth ICD10CM:I25.119 Atherosclerotic heart disease of native coronary artery with unspecified angina pectoris ICD10CM:I25.110 Atherosclerotic heart disease of native coronary artery with unstable angina pectoris ICD10CM:I25.10 Atherosclerotic heart disease of native coronary artery without angina pectoris -ICD10CM:L20 Atopic dermatitis ICD10CM:L20.9 Atopic dermatitis, unspecified ICD10CM:L20.81 Atopic neurodermatitis ICD10CM:Q44.2 Atresia of bile ducts diff --git a/src/ontology/reports/mirror_signature-doid.tsv b/src/ontology/reports/mirror_signature-doid.tsv index 16921376..9c6a5c3f 100644 --- a/src/ontology/reports/mirror_signature-doid.tsv +++ b/src/ontology/reports/mirror_signature-doid.tsv @@ -2497,6 +2497,13 @@ + + + + + + + @@ -3043,6 +3050,16 @@ + + + + + + + + + + @@ -4451,6 +4468,13 @@ + + + + + + + diff --git a/src/ontology/reports/mirror_signature-mondo.tsv b/src/ontology/reports/mirror_signature-mondo.tsv index 00c120a6..d808186b 100644 --- a/src/ontology/reports/mirror_signature-mondo.tsv +++ b/src/ontology/reports/mirror_signature-mondo.tsv @@ -3823,6 +3823,149 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -9466,6 +9609,8 @@ + + @@ -15516,6 +15661,7 @@ + @@ -45076,8 +45222,387 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -45219,6 +45744,7 @@ + @@ -45718,6 +46244,7 @@ + @@ -46195,6 +46722,7 @@ + @@ -46871,6 +47399,7 @@ + @@ -46968,7 +47497,9 @@ + + diff --git a/src/ontology/reports/mirror_signature-omim.tsv b/src/ontology/reports/mirror_signature-omim.tsv index 1ecaf078..1b533958 100644 --- a/src/ontology/reports/mirror_signature-omim.tsv +++ b/src/ontology/reports/mirror_signature-omim.tsv @@ -443,7 +443,6 @@ - @@ -788,7 +787,6 @@ - @@ -1227,7 +1225,6 @@ - @@ -30224,6 +30221,26 @@ + + + + + + + + + + + + + + + + + + + + diff --git a/src/ontology/reports/mirror_signature-ordo.tsv b/src/ontology/reports/mirror_signature-ordo.tsv index 6dcf314a..ebd39657 100644 --- a/src/ontology/reports/mirror_signature-ordo.tsv +++ b/src/ontology/reports/mirror_signature-ordo.tsv @@ -1184,7 +1184,6 @@ - @@ -1692,7 +1691,6 @@ - @@ -2130,6 +2128,7 @@ + @@ -2667,7 +2666,6 @@ - @@ -3214,7 +3212,6 @@ - @@ -8459,7 +8456,6 @@ - @@ -8931,7 +8927,6 @@ - @@ -9108,6 +9103,7 @@ + @@ -10066,7 +10062,6 @@ - @@ -10112,7 +10107,6 @@ - @@ -10323,6 +10317,7 @@ + @@ -10340,27 +10335,28 @@ + + - - + @@ -10404,6 +10400,7 @@ + @@ -10411,6 +10408,7 @@ + @@ -10422,6 +10420,7 @@ + @@ -10437,7 +10436,7 @@ - + @@ -10457,6 +10456,7 @@ + @@ -10481,7 +10481,6 @@ - @@ -10807,6 +10806,7 @@ + @@ -10996,7 +10996,6 @@ - @@ -11039,6 +11038,7 @@ + @@ -11058,6 +11058,7 @@ + @@ -11091,6 +11092,7 @@ + @@ -11103,7 +11105,6 @@ - @@ -11339,6 +11340,7 @@ + @@ -11726,6 +11728,7 @@ + @@ -11797,6 +11800,7 @@ + @@ -11883,6 +11887,7 @@ + @@ -11914,6 +11919,7 @@ + @@ -11938,7 +11944,6 @@ - @@ -11970,6 +11975,7 @@ + @@ -11984,6 +11990,7 @@ + @@ -11993,11 +12000,14 @@ + + + @@ -12008,6 +12018,8 @@ + + @@ -12617,13 +12629,100 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -12641,6 +12740,9 @@ + + + @@ -12658,18 +12760,75 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + diff --git a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv index dedbd716..94a612db 100644 --- a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv +++ b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv @@ -17559,6 +17559,24 @@ OMIM:620844 MONDO:excludeGene OMIM:620845 MONDO:excludeGene OMIM:620846 MONDO:excludeGene OMIM:620847 MONDO:excludeGene +OMIM:620853 MONDO:excludeGene +OMIM:620855 MONDO:excludeGene +OMIM:620856 MONDO:excludeGene +OMIM:620857 MONDO:excludeGene +OMIM:620858 MONDO:excludeGene +OMIM:620859 MONDO:excludeGene +OMIM:620860 MONDO:excludeGene +OMIM:620861 MONDO:excludeGene +OMIM:620862 MONDO:excludeGene +OMIM:620863 MONDO:excludeGene +OMIM:620864 MONDO:excludeGene +OMIM:620866 MONDO:excludeGene +OMIM:620868 MONDO:excludeGene +OMIM:620870 MONDO:excludeGene +OMIM:620871 MONDO:excludeGene +OMIM:620872 MONDO:excludeGene +OMIM:620873 MONDO:excludeGene +OMIM:620874 MONDO:excludeGene OMIMPS:151623 MONDO:excludeGrouping OMIM:100640 MONDO:excludeNonDisease OMIM:100660 MONDO:excludeNonDisease @@ -17779,6 +17797,7 @@ OMIM:120324 MONDO:excludeNonDisease OMIM:120325 MONDO:excludeNonDisease OMIM:120326 MONDO:excludeNonDisease OMIM:120340 MONDO:excludeNonDisease +OMIM:120353 MONDO:excludeNonDisease OMIM:120355 MONDO:excludeNonDisease OMIM:120420 MONDO:excludeNonDisease OMIM:120560 MONDO:excludeNonDisease @@ -18340,6 +18359,7 @@ OMIM:163906 MONDO:excludeNonDisease OMIM:163910 MONDO:excludeNonDisease OMIM:163920 MONDO:excludeNonDisease OMIM:163980 MONDO:excludeNonDisease +OMIM:164009 MONDO:excludeNonDisease OMIM:164013 MONDO:excludeNonDisease OMIM:164031 MONDO:excludeNonDisease OMIM:164035 MONDO:excludeNonDisease @@ -22032,7 +22052,6 @@ OMIM:604974 MONDO:excludeNonDisease OMIM:604977 MONDO:excludeNonDisease OMIM:604978 MONDO:excludeNonDisease OMIM:604979 MONDO:excludeNonDisease -OMIM:604981 MONDO:excludeNonDisease OMIM:604984 MONDO:excludeNonDisease OMIM:604986 MONDO:excludeNonDisease OMIM:604987 MONDO:excludeNonDisease @@ -29922,6 +29941,24 @@ OMIM:620844 MONDO:excludeNonDisease OMIM:620845 MONDO:excludeNonDisease OMIM:620846 MONDO:excludeNonDisease OMIM:620847 MONDO:excludeNonDisease +OMIM:620853 MONDO:excludeNonDisease +OMIM:620855 MONDO:excludeNonDisease +OMIM:620856 MONDO:excludeNonDisease +OMIM:620857 MONDO:excludeNonDisease +OMIM:620858 MONDO:excludeNonDisease +OMIM:620859 MONDO:excludeNonDisease +OMIM:620860 MONDO:excludeNonDisease +OMIM:620861 MONDO:excludeNonDisease +OMIM:620862 MONDO:excludeNonDisease +OMIM:620863 MONDO:excludeNonDisease +OMIM:620864 MONDO:excludeNonDisease +OMIM:620866 MONDO:excludeNonDisease +OMIM:620868 MONDO:excludeNonDisease +OMIM:620870 MONDO:excludeNonDisease +OMIM:620871 MONDO:excludeNonDisease +OMIM:620872 MONDO:excludeNonDisease +OMIM:620873 MONDO:excludeNonDisease +OMIM:620874 MONDO:excludeNonDisease OMIM:123270 MONDO:excludePhenotype OMIM:130180 MONDO:excludePhenotype OMIM:131500 MONDO:excludePhenotype @@ -49021,3 +49058,21 @@ OMIM:620844 MONDO:nonDisease OMIM:620845 MONDO:nonDisease OMIM:620846 MONDO:nonDisease OMIM:620847 MONDO:nonDisease +OMIM:620853 MONDO:nonDisease +OMIM:620855 MONDO:nonDisease +OMIM:620856 MONDO:nonDisease +OMIM:620857 MONDO:nonDisease +OMIM:620858 MONDO:nonDisease +OMIM:620859 MONDO:nonDisease +OMIM:620860 MONDO:nonDisease +OMIM:620861 MONDO:nonDisease +OMIM:620862 MONDO:nonDisease +OMIM:620863 MONDO:nonDisease +OMIM:620864 MONDO:nonDisease +OMIM:620866 MONDO:nonDisease +OMIM:620868 MONDO:nonDisease +OMIM:620870 MONDO:nonDisease +OMIM:620871 MONDO:nonDisease +OMIM:620872 MONDO:nonDisease +OMIM:620873 MONDO:nonDisease +OMIM:620874 MONDO:nonDisease diff --git a/src/ontology/reports/omim_mapping_status.tsv b/src/ontology/reports/omim_mapping_status.tsv index fe873ddf..ca0727bd 100644 --- a/src/ontology/reports/omim_mapping_status.tsv +++ b/src/ontology/reports/omim_mapping_status.tsv @@ -1,4 +1,6 @@ subject_id subject_label is_mapped is_excluded is_deprecated +OMIM:620852 neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities False False False +OMIM:620865 ehlers-danlos syndrome, classic-like, 3 False False False OMIM:100500 False False True OMIM:100680 False False True OMIM:100735 False False True @@ -18961,6 +18963,24 @@ OMIM:620844 RWDD1 False True False OMIM:620845 TM4SF19 False True False OMIM:620846 NTAQ1 False True False OMIM:620847 BMP8A False True False +OMIM:620853 ANKFN1 False True False +OMIM:620855 GPR155 False True False +OMIM:620856 FABP9 False True False +OMIM:620857 ANKRD33 False True False +OMIM:620858 ERICH2 False True False +OMIM:620859 EXD3 False True False +OMIM:620860 GPR157 False True False +OMIM:620861 ANKRD44 False True False +OMIM:620862 ANKRD52 False True False +OMIM:620863 AMDHD1 False True False +OMIM:620864 AMDHD2 False True False +OMIM:620866 ERICH3 False True False +OMIM:620868 ARID3C False True False +OMIM:620870 DDI1 False True False +OMIM:620871 DDI2 False True False +OMIM:620872 ADGRF2 False True False +OMIM:620873 ADGRF3 False True False +OMIM:620874 ADGRF5 False True False OMIMPS:151623 Li-Fraumeni syndrome False True False OMIM:616915 removed from database False True True OMIM:100070 aortic aneurysm, familial abdominal, 1 True False False @@ -21960,7 +21980,7 @@ OMIM:604250 hemochromatosis, type 3 True False False OMIM:604254 dyslexia, susceptibility to, 3 True False False OMIM:604271 growth hormone insensitivity, partial True False False OMIM:604273 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 1 True False False -OMIM:604278 renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development True False False +OMIM:604278 proximal renal tubular acidosis-ocular anomaly syndrome True False False OMIM:604286 muscular dystrophy, limb-girdle, autosomal recessive 4 True False False OMIM:604288 cardiomyopathy, dilated, 1h True False False OMIM:604290 aceruloplasminemia True False False diff --git a/src/ontology/reports/omim_term_exclusions.txt b/src/ontology/reports/omim_term_exclusions.txt index 5f1fc482..c2b9101f 100644 --- a/src/ontology/reports/omim_term_exclusions.txt +++ b/src/ontology/reports/omim_term_exclusions.txt @@ -19257,4 +19257,22 @@ OMIM:620844 OMIM:620845 OMIM:620846 OMIM:620847 +OMIM:620853 +OMIM:620855 +OMIM:620856 +OMIM:620857 +OMIM:620858 +OMIM:620859 +OMIM:620860 +OMIM:620861 +OMIM:620862 +OMIM:620863 +OMIM:620864 +OMIM:620866 +OMIM:620868 +OMIM:620870 +OMIM:620871 +OMIM:620872 +OMIM:620873 +OMIM:620874 OMIMPS:151623 diff --git a/src/ontology/reports/omim_unmapped_terms.tsv b/src/ontology/reports/omim_unmapped_terms.tsv index a6ed787a..eb697853 100644 --- a/src/ontology/reports/omim_unmapped_terms.tsv +++ b/src/ontology/reports/omim_unmapped_terms.tsv @@ -1 +1,3 @@ subject_id subject_label +OMIM:620865 ehlers-danlos syndrome, classic-like, 3 +OMIM:620852 neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities diff --git a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv index 8be7f809..80b8bf72 100644 --- a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv @@ -60,8 +60,6 @@ MONDO:0000463 Ochoa syndrome MONDO:0019721 Orphanet:2704 Orphanet:93547 obsolete MONDO:0000463 Ochoa syndrome MONDO:8000032 Orphanet:2704 Orphanet:377789 obsolete malformation syndrome MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0020137 Orphanet:52430 Orphanet:98535 obsolete frontotemporal degeneration with dementia MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0028868 Orphanet:52430 Orphanet:276061 obsolete genetic frontotemporal degeneration with dementia -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0800084 Orphanet:52430 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0800089 Orphanet:52430 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components MONDO:0000565 infective endocarditis MONDO:0015575 Orphanet:570762 Orphanet:163582 obsolete rare bacterial infectious disease MONDO:0000645 fallopian tube benign neoplasm MONDO:0015861 Orphanet:180237 Orphanet:180220 obsolete rare uterine adnexal tumor MONDO:0000733 cornea plana MONDO:0020145 Orphanet:53691 Orphanet:98553 obsolete developmental defect of the eye @@ -136,7 +134,6 @@ MONDO:0002457 Treacher-Collins syndrome MONDO:0026189 Orphanet:861 Orphanet:1835 MONDO:0002457 Treacher-Collins syndrome MONDO:0043008 Orphanet:861 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0002457 Treacher-Collins syndrome MONDO:8000032 Orphanet:861 Orphanet:377789 obsolete malformation syndrome MONDO:0002474 primary hyperoxaluria MONDO:0019743 Orphanet:416 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease -MONDO:0002520 hepatic porphyria MONDO:0015115 Orphanet:95157 Orphanet:101940 obsolete rare genetic metabolic liver disease MONDO:0002520 hepatic porphyria MONDO:0016133 Orphanet:95157 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy MONDO:0002571 primary central nervous system lymphoma MONDO:0020036 Orphanet:46135 Orphanet:98062 obsolete rare nervous system tumor MONDO:0002588 thymoma type A MONDO:8000031 Orphanet:263310 Orphanet:557494 obsolete subtype of a disorder @@ -191,7 +188,6 @@ MONDO:0004994 cardiomyopathy MONDO:0019996 Orphanet:167848 Orphanet:97929 obsole MONDO:0005006 clear cell sarcoma of kidney MONDO:0015963 Orphanet:457246 Orphanet:183595 obsolete inherited renal tumor MONDO:0005006 clear cell sarcoma of kidney MONDO:0019749 Orphanet:457246 Orphanet:93619 obsolete rare renal tumor MONDO:0005029 essential thrombocythemia MONDO:0016637 Orphanet:3318 Orphanet:248404 obsolete thrombotic disorder due to an acquired platelet anomaly -MONDO:0005055 Kaposi's sarcoma MONDO:0016228 Orphanet:33276 Orphanet:211237 obsolete rare vascular tumor MONDO:0005077 pertussis MONDO:0015575 Orphanet:1489 Orphanet:163582 obsolete rare bacterial infectious disease MONDO:0005081 preeclampsia MONDO:0015582 Orphanet:275555 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium MONDO:0005086 renal cell carcinoma MONDO:0019749 Orphanet:217071 Orphanet:93619 obsolete rare renal tumor @@ -313,7 +309,6 @@ MONDO:0006292 malignant mesothelioma MONDO:0015119 Orphanet:50251 Orphanet:10194 MONDO:0006339 ovarian microcystic stromal tumor MONDO:0019965 Orphanet:569248 Orphanet:97293 obsolete rare benign ovarian tumor MONDO:0006346 pancreatic acinar cell carcinoma MONDO:0016314 Orphanet:424046 Orphanet:217074 obsolete rare carcinoma of pancreas MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation MONDO:0019099 Orphanet:595133 Orphanet:71209 obsolete rare soft tissue tumor -MONDO:0006363 peritoneal multicystic mesothelioma MONDO:0015683 Orphanet:168816 Orphanet:168807 obsolete primary malignant peritoneal tumor MONDO:0006369 pineal parenchymal tumor of intermediate differentiation MONDO:0016721 Orphanet:251919 Orphanet:251905 obsolete pineal tumor of neuroepithelial tissue MONDO:0006373 pituitary gland adenoma MONDO:0019833 Orphanet:99408 Orphanet:95503 obsolete pituitary hormone deficiency from tumoral origin MONDO:0006383 primary cutaneous diffuse large B-cell lymphoma, Leg type MONDO:0015818 Orphanet:178544 Orphanet:178554 obsolete aggressive primary cutaneous B-cell lymphoma @@ -430,7 +425,6 @@ MONDO:0007113 Angelman syndrome MONDO:8000032 Orphanet:72 Orphanet:377789 obsole MONDO:0007114 Angel-shaped phalango-epiphyseal dysplasia MONDO:8000032 Orphanet:63442 Orphanet:377789 obsolete malformation syndrome MONDO:0007116 hereditary neurocutaneous angioma MONDO:0015145 Orphanet:1062 Orphanet:102006 obsolete neurovascular malformation MONDO:0007116 hereditary neurocutaneous angioma MONDO:0015658 Orphanet:1062 Orphanet:166487 obsolete cerebral diseases of vascular origin with epilepsy -MONDO:0007116 hereditary neurocutaneous angioma MONDO:0016228 Orphanet:1062 Orphanet:211237 obsolete rare vascular tumor MONDO:0007116 hereditary neurocutaneous angioma MONDO:0018729 Orphanet:1062 Orphanet:459543 obsolete genetic vascular tumor MONDO:0007116 hereditary neurocutaneous angioma MONDO:0020063 Orphanet:1062 Orphanet:98196 obsolete malformation syndrome with hamartosis MONDO:0007116 hereditary neurocutaneous angioma MONDO:0031949 Orphanet:1062 Orphanet:371436 obsolete genetic neurovascular malformation @@ -456,13 +450,8 @@ MONDO:0007134 Cooks syndrome MONDO:0800093 Orphanet:1487 Orphanet:498451 obsolet MONDO:0007134 Cooks syndrome MONDO:8000032 Orphanet:1487 Orphanet:377789 obsolete malformation syndrome MONDO:0007137 isolated congenital anosmia MONDO:0020017 Orphanet:88620 Orphanet:98036 obsolete rare otorhinolaryngologic disease MONDO:0007142 Townes-Brocks syndrome MONDO:0015246 Orphanet:857 Orphanet:117573 obsolete syndromic anorectal malformation -MONDO:0007142 Townes-Brocks syndrome MONDO:0015334 Orphanet:857 Orphanet:139036 obsolete branchial arch or oral-acral syndrome -MONDO:0007142 Townes-Brocks syndrome MONDO:0015495 Orphanet:857 Orphanet:156202 obsolete otomandibular dysplasia associated with monogenic syndromes MONDO:0007142 Townes-Brocks syndrome MONDO:0017434 Orphanet:857 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy MONDO:0007142 Townes-Brocks syndrome MONDO:0019589 Orphanet:857 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007142 Townes-Brocks syndrome MONDO:0019721 Orphanet:857 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0007142 Townes-Brocks syndrome MONDO:0026189 Orphanet:857 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome -MONDO:0007142 Townes-Brocks syndrome MONDO:0035863 Orphanet:857 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007142 Townes-Brocks syndrome MONDO:0043008 Orphanet:857 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007142 Townes-Brocks syndrome MONDO:8000032 Orphanet:857 Orphanet:377789 obsolete malformation syndrome MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome MONDO:0035863 Orphanet:1110 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -649,7 +638,6 @@ MONDO:0007340 cleidocranial dysplasia 1 MONDO:0026182 Orphanet:1452 Orphanet:183 MONDO:0007340 cleidocranial dysplasia 1 MONDO:8000032 Orphanet:1452 Orphanet:377789 obsolete malformation syndrome MONDO:0007341 cleidorhizomelic syndrome MONDO:0019697 Orphanet:1453 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia MONDO:0007341 cleidorhizomelic syndrome MONDO:8000032 Orphanet:1453 Orphanet:377789 obsolete malformation syndrome -MONDO:0007343 isolated congenital digital clubbing MONDO:0017429 Orphanet:217059 Orphanet:294949 obsolete joint formation defects MONDO:0007343 isolated congenital digital clubbing MONDO:8000030 Orphanet:217059 Orphanet:377791 obsolete morphological anomaly MONDO:0007345 aorta coarctation MONDO:0020286 Orphanet:1457 Orphanet:98718 obsolete aortic malformation MONDO:0007345 aorta coarctation MONDO:8000030 Orphanet:1457 Orphanet:377791 obsolete morphological anomaly @@ -761,9 +749,6 @@ MONDO:0007477 3-M syndrome MONDO:8000032 Orphanet:2616 Orphanet:377789 obsolete MONDO:0007478 autosomal dominant Kenny-Caffey syndrome MONDO:8000031 Orphanet:93325 Orphanet:557494 obsolete subtype of a disorder MONDO:0007481 Leri-Weill dyschondrosteosis MONDO:0019697 Orphanet:240 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia MONDO:0007481 Leri-Weill dyschondrosteosis MONDO:8000032 Orphanet:240 Orphanet:377789 obsolete malformation syndrome -MONDO:0007482 dyschondrosteosis-nephritis syndrome MONDO:0019697 Orphanet:1765 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia -MONDO:0007482 dyschondrosteosis-nephritis syndrome MONDO:0019721 Orphanet:1765 Orphanet:93547 obsolete syndromic renal or urinary tract malformation -MONDO:0007482 dyschondrosteosis-nephritis syndrome MONDO:8000032 Orphanet:1765 Orphanet:377789 obsolete malformation syndrome MONDO:0007489 dysplasia epiphysealis hemimelica MONDO:0800089 Orphanet:1822 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components MONDO:0007489 dysplasia epiphysealis hemimelica MONDO:8000032 Orphanet:1822 Orphanet:377789 obsolete malformation syndrome MONDO:0007490 carpotarsal osteochondromatosis MONDO:0800089 Orphanet:2767 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components @@ -816,7 +801,6 @@ MONDO:0007552 pretibial dystrophic epidermolysis bullosa MONDO:8000031 Orphanet: MONDO:0007554 epidermolysis bullosa simplex 1B, generalized intermediate MONDO:0035684 Orphanet:79399 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement MONDO:0007555 pidermolysis bullosa simplex 5A, Ogna type MONDO:0035684 Orphanet:79401 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement MONDO:0007556 epidermolysis bullosa simplex 2F, with mottled pigmentation MONDO:0035684 Orphanet:79397 Orphanet:595346 obsolete epidermolysis bullosa simplex without extracutaneous involvement -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type MONDO:0020225 Orphanet:166011 Orphanet:98641 obsolete syndromic cataract MONDO:0007564 pilomatrixoma MONDO:0019300 Orphanet:91414 Orphanet:79386 obsolete rare skin tumor or hamartoma MONDO:0007565 familial cylindromatosis MONDO:8000031 Orphanet:211 Orphanet:557494 obsolete subtype of a disorder MONDO:0007566 multiple self-healing squamous epithelioma MONDO:0015950 Orphanet:65748 Orphanet:183487 obsolete inherited skin tumor @@ -895,6 +879,7 @@ MONDO:0007669 renal cysts and diabetes syndrome MONDO:0015887 Orphanet:93111 Orp MONDO:0007669 renal cysts and diabetes syndrome MONDO:0019721 Orphanet:93111 Orphanet:93547 obsolete syndromic renal or urinary tract malformation MONDO:0007669 renal cysts and diabetes syndrome MONDO:8000031 Orphanet:93111 Orphanet:557494 obsolete subtype of a disorder MONDO:0007670 hypotrichosis-lymphedema-telangiectasia syndrome (grouping) MONDO:0035470 Orphanet:69735 Orphanet:568044 obsolete primary lymphedema with systemic or visceral involvement +MONDO:0007671 fibronectin glomerulopathy MONDO:0026192 Orphanet:84090 Orphanet:183586 obsolete genetic glomerular disease MONDO:0007672 glomuvenous malformation MONDO:0015145 Orphanet:83454 Orphanet:102006 obsolete neurovascular malformation MONDO:0007672 glomuvenous malformation MONDO:0016232 Orphanet:83454 Orphanet:211252 obsolete rare venous malformation MONDO:0007672 glomuvenous malformation MONDO:0018730 Orphanet:83454 Orphanet:459548 obsolete rare genetic venous malformation @@ -937,7 +922,6 @@ MONDO:0007713 clonic hemifacial spasm MONDO:0017651 Orphanet:221083 Orphanet:306 MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 MONDO:0016513 Orphanet:98791 Orphanet:232288 obsolete alpha-thalassemia-related diseases MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 MONDO:0035862 Orphanet:98791 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 MONDO:8000032 Orphanet:98791 Orphanet:377789 obsolete malformation syndrome -MONDO:0007726 hip dysplasia, Beukes type MONDO:0019692 Orphanet:2114 Orphanet:93429 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia MONDO:0007727 autosomal dominant familial periodic fever MONDO:0017369 Orphanet:32960 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency MONDO:0007727 autosomal dominant familial periodic fever MONDO:0017370 Orphanet:32960 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement MONDO:0007732 Holt-Oram syndrome MONDO:0015110 Orphanet:392 Orphanet:101934 obsolete genetic cardiac rhythm disease @@ -1007,6 +991,7 @@ MONDO:0007836 IVIC syndrome MONDO:0020253 Orphanet:2307 Orphanet:98683 obsolete MONDO:0007836 IVIC syndrome MONDO:8000032 Orphanet:2307 Orphanet:377789 obsolete malformation syndrome MONDO:0007837 Johnson neuroectodermal syndrome MONDO:0035863 Orphanet:2316 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007837 Johnson neuroectodermal syndrome MONDO:8000032 Orphanet:2316 Orphanet:377789 obsolete malformation syndrome +MONDO:0007838 Jacobsen syndrome MONDO:0018036 Orphanet:2308 Orphanet:331220 obsolete immunodeficiency due to absence of thymus MONDO:0007838 Jacobsen syndrome MONDO:0020169 Orphanet:2308 Orphanet:98578 obsolete rare disorder with ptosis MONDO:0007838 Jacobsen syndrome MONDO:8000032 Orphanet:2308 Orphanet:377789 obsolete malformation syndrome MONDO:0007839 Aase-Smith syndrome MONDO:0015335 Orphanet:916 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate @@ -1274,8 +1259,6 @@ MONDO:0008134 autosomal dominant optic atrophy, classic form MONDO:0016799 Orpha MONDO:0008136 isolated optic nerve hypoplasia MONDO:0020145 Orphanet:637061 Orphanet:98553 obsolete developmental defect of the eye MONDO:0008136 isolated optic nerve hypoplasia MONDO:0026186 Orphanet:637061 Orphanet:183557 obsolete genetic developmental defect of the eye MONDO:0008136 isolated optic nerve hypoplasia MONDO:8000030 Orphanet:637061 Orphanet:377791 obsolete morphological anomaly -MONDO:0008137 orofaciodigital syndrome X MONDO:0035863 Orphanet:2756 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008137 orofaciodigital syndrome X MONDO:8000032 Orphanet:2756 Orphanet:377789 obsolete malformation syndrome MONDO:0008138 syndromic orbital border hypoplasia MONDO:8000032 Orphanet:98606 Orphanet:377789 obsolete malformation syndrome MONDO:0008139 OSLAM syndrome MONDO:0015959 Orphanet:2760 Orphanet:183527 obsolete inherited syndrome with bone tumors as a major feature MONDO:0008139 OSLAM syndrome MONDO:0800095 Orphanet:2760 Orphanet:93459 obsolete syndrome with synostosis or other joint formation defect @@ -1301,8 +1284,6 @@ MONDO:0008153 progressive osseous heteroplasia MONDO:0800089 Orphanet:2762 Orpha MONDO:0008153 progressive osseous heteroplasia MONDO:8000032 Orphanet:2762 Orphanet:377789 obsolete malformation syndrome MONDO:0008155 osteomesopyknosis MONDO:8000032 Orphanet:2777 Orphanet:377789 obsolete malformation syndrome MONDO:0008156 autosomal dominant osteopetrosis 2 MONDO:8000032 Orphanet:53 Orphanet:377789 obsolete malformation syndrome -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome MONDO:0800084 Orphanet:1562 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome MONDO:8000032 Orphanet:1562 Orphanet:377789 obsolete malformation syndrome MONDO:0008161 otodental syndrome MONDO:0015336 Orphanet:2791 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component MONDO:0008161 otodental syndrome MONDO:0026190 Orphanet:2791 Orphanet:183580 obsolete genetic malformation syndrome with odontal and/or periodontal component MONDO:0008161 otodental syndrome MONDO:8000032 Orphanet:2791 Orphanet:377789 obsolete malformation syndrome @@ -1328,7 +1309,6 @@ MONDO:0008183 annular pancreas MONDO:8000030 Orphanet:675 Orphanet:377791 obsole MONDO:0008185 hereditary chronic pancreatitis MONDO:0015112 Orphanet:676 Orphanet:101937 obsolete rare pancreatic disease MONDO:0008185 hereditary chronic pancreatitis MONDO:0015618 Orphanet:676 Orphanet:165661 obsolete genetic pancreatic disease MONDO:0008185 hereditary chronic pancreatitis MONDO:0015888 Orphanet:676 Orphanet:181381 obsolete other rare diabetes mellitus -MONDO:0008196 parastremmatic dwarfism MONDO:8000032 Orphanet:2646 Orphanet:377789 obsolete malformation syndrome MONDO:0008198 parietal foramina with cleidocranial dysplasia MONDO:0019709 Orphanet:251290 Orphanet:93451 obsolete cleidocranial dysplasia and isolated cranial ossification defect MONDO:0008198 parietal foramina with cleidocranial dysplasia MONDO:0020018 Orphanet:251290 Orphanet:98038 obsolete cranial malformation MONDO:0008198 parietal foramina with cleidocranial dysplasia MONDO:8000032 Orphanet:251290 Orphanet:377789 obsolete malformation syndrome @@ -1359,10 +1339,6 @@ MONDO:0008221 prolidase deficiency MONDO:0035471 Orphanet:742 Orphanet:568047 ob MONDO:0008221 prolidase deficiency MONDO:0035862 Orphanet:742 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0008222 Andersen-Tawil syndrome MONDO:0015110 Orphanet:37553 Orphanet:101934 obsolete genetic cardiac rhythm disease MONDO:0008234 multiple endocrine neoplasia type 2A MONDO:8000031 Orphanet:247698 Orphanet:557494 obsolete subtype of a disorder -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome MONDO:0017432 Orphanet:2878 Orphanet:294955 obsolete syndrome with limb reduction defects -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome MONDO:0019589 Orphanet:2878 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome MONDO:0800090 Orphanet:2878 Orphanet:498477 obsolete ectrodactyly with and without other manifestations -MONDO:0008237 phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome MONDO:8000032 Orphanet:2878 Orphanet:377789 obsolete malformation syndrome MONDO:0008245 piebald trait-neurologic defects syndrome MONDO:0035862 Orphanet:2885 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0008245 piebald trait-neurologic defects syndrome MONDO:8000032 Orphanet:2885 Orphanet:377789 obsolete malformation syndrome MONDO:0008247 Robin sequence-oligodactyly syndrome MONDO:0015335 Orphanet:3104 Orphanet:139039 obsolete Mendelian syndromes with cleft lip/palate @@ -1527,7 +1503,6 @@ MONDO:0008428 septooptic dysplasia MONDO:0018609 Orphanet:3157 Orphanet:441434 o MONDO:0008428 septooptic dysplasia MONDO:0019827 Orphanet:3157 Orphanet:95495 obsolete disease associated with non-acquired combined pituitary hormone deficiency MONDO:0008428 septooptic dysplasia MONDO:0035862 Orphanet:3157 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0008428 septooptic dysplasia MONDO:8000032 Orphanet:3157 Orphanet:377789 obsolete malformation syndrome -MONDO:0008429 Singleton-Merten dysplasia MONDO:0015710 Orphanet:85191 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency MONDO:0008429 Singleton-Merten dysplasia MONDO:0019704 Orphanet:85191 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density MONDO:0008429 Singleton-Merten dysplasia MONDO:8000032 Orphanet:85191 Orphanet:377789 obsolete malformation syndrome MONDO:0008433 small cell lung carcinoma MONDO:0015119 Orphanet:70573 Orphanet:101945 obsolete bronchopulmonary tumor @@ -1808,8 +1783,6 @@ MONDO:0008708 acrocallosal syndrome MONDO:0017434 Orphanet:36 Orphanet:294959 ob MONDO:0008708 acrocallosal syndrome MONDO:0035863 Orphanet:36 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008708 acrocallosal syndrome MONDO:8000032 Orphanet:36 Orphanet:377789 obsolete malformation syndrome MONDO:0008709 acrocephalopolydactyly MONDO:8000032 Orphanet:221054 Orphanet:377789 obsolete malformation syndrome -MONDO:0008711 Goodman syndrome MONDO:0043008 Orphanet:65798 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0008711 Goodman syndrome MONDO:8000032 Orphanet:65798 Orphanet:377789 obsolete malformation syndrome MONDO:0008712 acrocraniofacial dysostosis MONDO:0043008 Orphanet:949 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008712 acrocraniofacial dysostosis MONDO:8000032 Orphanet:949 Orphanet:377789 obsolete malformation syndrome MONDO:0008713 acrodermatitis enteropathica MONDO:0015180 Orphanet:37 Orphanet:104005 obsolete intestinal disease due to fat malabsorption @@ -2322,7 +2295,6 @@ MONDO:0009104 Donnai-Barrow syndrome MONDO:0035863 Orphanet:2143 Orphanet:611327 MONDO:0009104 Donnai-Barrow syndrome MONDO:8000032 Orphanet:2143 Orphanet:377789 obsolete malformation syndrome MONDO:0009105 trichohepatoenteric syndrome MONDO:0015114 Orphanet:84064 Orphanet:101939 obsolete rare parenchymal liver disease MONDO:0009105 trichohepatoenteric syndrome MONDO:0015508 Orphanet:84064 Orphanet:156604 obsolete hereditary parenchymatous liver disease -MONDO:0009105 trichohepatoenteric syndrome MONDO:0015710 Orphanet:84064 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency MONDO:0009105 trichohepatoenteric syndrome MONDO:0019126 Orphanet:84064 Orphanet:73014 obsolete intractable diarrhea of infancy MONDO:0009105 trichohepatoenteric syndrome MONDO:0031697 Orphanet:84064 Orphanet:363300 obsolete genetic intractable diarrhea of infancy MONDO:0009106 diastematomyelia MONDO:0035542 Orphanet:1671 Orphanet:573278 obsolete split cord malformation @@ -2354,7 +2326,6 @@ MONDO:0009131 Riley-Day syndrome MONDO:0018798 Orphanet:1764 Orphanet:477808 obs MONDO:0009131 Riley-Day syndrome MONDO:0020194 Orphanet:1764 Orphanet:98604 obsolete congenital alacrima MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium MONDO:0035862 Orphanet:1766 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0009138 dysosteosclerosis MONDO:8000032 Orphanet:1782 Orphanet:377789 obsolete malformation syndrome -MONDO:0009140 Silverman-Handmaker type dyssegmental dysplasia MONDO:0019689 Orphanet:1865 Orphanet:93424 obsolete perlecan-related bone disorder MONDO:0009144 Ebstein anomaly MONDO:0018797 Orphanet:1880 Orphanet:477805 obsolete genetic cardiac malformation MONDO:0009144 Ebstein anomaly MONDO:8000030 Orphanet:1880 Orphanet:377791 obsolete morphological anomaly MONDO:0009145 SchC6pf-Schulz-Passarge syndrome MONDO:0015336 Orphanet:50944 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component @@ -2389,7 +2360,7 @@ MONDO:0009173 congenital enteropathy due to enteropeptidase deficiency MONDO:001 MONDO:0009174 protein-losing enteropathy MONDO:0015187 Orphanet:566175 Orphanet:104012 obsolete rare inflammatory bowel disease MONDO:0009174 protein-losing enteropathy MONDO:0015616 Orphanet:566175 Orphanet:165655 obsolete rare genetic intestinal disease MONDO:0009175 eosinophilic fasciitis MONDO:0019546 Orphanet:3165 Orphanet:90077 obsolete other acquired skin disease -MONDO:0009176 epidermodysplasia verruciformis MONDO:0018033 Orphanet:302 Orphanet:331193 obsolete other immunodeficiency syndromes due to defects in innate immunity +MONDO:0009176 epidermodysplasia verruciformis MONDO:0015979 Orphanet:302 Orphanet:183710 obsolete hereditary predisposition to infections MONDO:0009176 epidermodysplasia verruciformis MONDO:0019305 Orphanet:302 Orphanet:79391 obsolete immune deficiency with skin involvement MONDO:0009176 epidermodysplasia verruciformis MONDO:0026166 Orphanet:302 Orphanet:183494 obsolete genetic immune deficiency with skin involvement MONDO:0009177 late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome MONDO:0020014 Orphanet:231556 Orphanet:98027 obsolete rare disease with odontological manifestation @@ -2813,6 +2784,7 @@ MONDO:0009499 Krabbe disease MONDO:0018609 Orphanet:487 Orphanet:441434 obsolete MONDO:0009499 Krabbe disease MONDO:0019058 Orphanet:487 Orphanet:68385 obsolete neurometabolic disease MONDO:0009502 pyruvate dehydrogenase E2 deficiency MONDO:8000031 Orphanet:79244 Orphanet:557494 obsolete subtype of a disorder MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency MONDO:8000031 Orphanet:255182 Orphanet:557494 obsolete subtype of a disorder +MONDO:0009506 specific granule deficiency MONDO:0018032 Orphanet:169142 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations MONDO:0009507 Lambert syndrome MONDO:0015334 Orphanet:1296 Orphanet:139036 obsolete branchial arch or oral-acral syndrome MONDO:0009507 Lambert syndrome MONDO:0015495 Orphanet:1296 Orphanet:156202 obsolete otomandibular dysplasia associated with monogenic syndromes MONDO:0009507 Lambert syndrome MONDO:0026189 Orphanet:1296 Orphanet:183576 obsolete genetic branchial arch or oral-acral syndrome @@ -2935,8 +2907,6 @@ MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome MONDO:00196 MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome MONDO:0043008 Orphanet:2631 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009589 mesomelic dwarfism-cleft palate-camptodactyly syndrome MONDO:8000032 Orphanet:2631 Orphanet:377789 obsolete malformation syndrome MONDO:0009591 metachromatic leukodystrophy, juvenile form MONDO:8000031 Orphanet:309263 Orphanet:557494 obsolete subtype of a disorder -MONDO:0009592 metaphyseal acroscyphodysplasia MONDO:0019693 Orphanet:1240 Orphanet:93430 obsolete multiple metaphyseal dysplasia -MONDO:0009592 metaphyseal acroscyphodysplasia MONDO:0035863 Orphanet:1240 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009593 spondylometaphyseal dysplasia, Sedaghatian type MONDO:8000032 Orphanet:93317 Orphanet:377789 obsolete malformation syndrome MONDO:0009594 metaphyseal chondrodysplasia, Kaitila type MONDO:0019693 Orphanet:166038 Orphanet:93430 obsolete multiple metaphyseal dysplasia MONDO:0009595 cartilage-hair hypoplasia MONDO:0019693 Orphanet:175 Orphanet:93430 obsolete multiple metaphyseal dysplasia @@ -3045,7 +3015,6 @@ MONDO:0009688 myasthenia gravis MONDO:0018743 Orphanet:589 Orphanet:464764 obsol MONDO:0009693 plasma cell myeloma MONDO:0016180 Orphanet:29073 Orphanet:209016 obsolete hematological disease associated with an acquired peripheral neuropathy MONDO:0009696 juvenile myoclonic epilepsy MONDO:0017654 Orphanet:307 Orphanet:306759 obsolete non progressive epilepsy and/or ataxia with myoclonus as a major feature MONDO:0009698 Unverricht-Lundborg syndrome MONDO:0035862 Orphanet:308 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0009698 Unverricht-Lundborg syndrome MONDO:8000032 Orphanet:308 Orphanet:377789 obsolete malformation syndrome MONDO:0009704 carnitine palmitoyl transferase II deficiency, myopathic form MONDO:8000031 Orphanet:228302 Orphanet:557494 obsolete subtype of a disorder MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency MONDO:0016804 Orphanet:43115 Orphanet:254843 obsolete exercise intolerance with lactic acidosis MONDO:0009708 myopathy, myosin storage, autosomal recessive MONDO:8000031 Orphanet:636970 Orphanet:557494 obsolete subtype of a disorder @@ -3056,7 +3025,6 @@ MONDO:0009716 Richieri Costa-da Silva syndrome MONDO:0016121 Orphanet:3101 Orpha MONDO:0009716 Richieri Costa-da Silva syndrome MONDO:0035863 Orphanet:3101 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009716 Richieri Costa-da Silva syndrome MONDO:8000032 Orphanet:3101 Orphanet:377789 obsolete malformation syndrome MONDO:0009717 Schwartz-Jampel syndrome MONDO:0016121 Orphanet:800 Orphanet:206973 obsolete congenital myotonia -MONDO:0009717 Schwartz-Jampel syndrome MONDO:0019689 Orphanet:800 Orphanet:93424 obsolete perlecan-related bone disorder MONDO:0009717 Schwartz-Jampel syndrome MONDO:0020225 Orphanet:800 Orphanet:98641 obsolete syndromic cataract MONDO:0009719 familial atrial myxoma MONDO:0015673 Orphanet:615 Orphanet:168194 obsolete rare cardiac tumor MONDO:0009719 familial atrial myxoma MONDO:0017129 Orphanet:615 Orphanet:271841 obsolete inherited cardiac tumor @@ -3152,9 +3120,6 @@ MONDO:0009792 ichthyosis-oral and digital anomalies syndrome MONDO:0015331 Orpha MONDO:0009792 ichthyosis-oral and digital anomalies syndrome MONDO:0029102 Orphanet:2272 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs MONDO:0009792 ichthyosis-oral and digital anomalies syndrome MONDO:0043008 Orphanet:2272 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009792 ichthyosis-oral and digital anomalies syndrome MONDO:8000032 Orphanet:2272 Orphanet:377789 obsolete malformation syndrome -MONDO:0009793 orofaciodigital syndrome III MONDO:0019589 Orphanet:2752 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0009793 orofaciodigital syndrome III MONDO:0035863 Orphanet:2752 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009793 orofaciodigital syndrome III MONDO:8000032 Orphanet:2752 Orphanet:377789 obsolete malformation syndrome MONDO:0009794 orofaciodigital syndrome IV MONDO:0019589 Orphanet:2753 Orphanet:90642 obsolete syndromic genetic hearing loss MONDO:0009794 orofaciodigital syndrome IV MONDO:0035863 Orphanet:2753 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009794 orofaciodigital syndrome IV MONDO:8000032 Orphanet:2753 Orphanet:377789 obsolete malformation syndrome @@ -3204,6 +3169,7 @@ MONDO:0009832 pancreatic agenesis MONDO:8000030 Orphanet:2805 Orphanet:377791 ob MONDO:0009833 Shwachman-Diamond syndrome MONDO:0015112 Orphanet:811 Orphanet:101937 obsolete rare pancreatic disease MONDO:0009833 Shwachman-Diamond syndrome MONDO:0015618 Orphanet:811 Orphanet:165661 obsolete genetic pancreatic disease MONDO:0009833 Shwachman-Diamond syndrome MONDO:0015945 Orphanet:811 Orphanet:183422 obsolete polymalformative genetic syndrome with increased risk of developing cancer +MONDO:0009833 Shwachman-Diamond syndrome MONDO:0018032 Orphanet:811 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations MONDO:0009833 Shwachman-Diamond syndrome MONDO:0019693 Orphanet:811 Orphanet:93430 obsolete multiple metaphyseal dysplasia MONDO:0009833 Shwachman-Diamond syndrome MONDO:0035863 Orphanet:811 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009835 subacute sclerosing panencephalitis MONDO:0015659 Orphanet:2806 Orphanet:166490 obsolete infectious disease with epilepsy @@ -3512,7 +3478,6 @@ MONDO:0010088 mucosulfatidosis MONDO:0018299 Orphanet:585 Orphanet:371442 obsole MONDO:0010088 mucosulfatidosis MONDO:0019058 Orphanet:585 Orphanet:68385 obsolete neurometabolic disease MONDO:0010088 mucosulfatidosis MONDO:0020228 Orphanet:585 Orphanet:98644 obsolete cataract associated with a metabolic disease MONDO:0010089 isolated sulfite oxidase deficiency MONDO:8000031 Orphanet:99731 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010090 Summitt syndrome MONDO:8000032 Orphanet:3210 Orphanet:377789 obsolete malformation syndrome MONDO:0010091 Cold-induced sweating syndrome 1 MONDO:8000032 Orphanet:1545 Orphanet:377789 obsolete malformation syndrome MONDO:0010092 Filippi syndrome MONDO:0017434 Orphanet:3255 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy MONDO:0010092 Filippi syndrome MONDO:0035863 Orphanet:3255 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -3613,8 +3578,6 @@ MONDO:0010188 familial isolated deficiency of vitamin E MONDO:0017760 Orphanet:9 MONDO:0010188 familial isolated deficiency of vitamin E MONDO:0019058 Orphanet:96 Orphanet:68385 obsolete neurometabolic disease MONDO:0010188 familial isolated deficiency of vitamin E MONDO:0020240 Orphanet:96 Orphanet:98661 obsolete syndromic retinitis pigmentosa MONDO:0010191 von Willebrand disease 3 MONDO:8000031 Orphanet:166096 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010193 Weaver syndrome MONDO:0035863 Orphanet:3447 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010193 Weaver syndrome MONDO:0800091 Orphanet:3447 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement MONDO:0010193 Weaver syndrome MONDO:8000032 Orphanet:3447 Orphanet:377789 obsolete malformation syndrome MONDO:0010196 Werner syndrome MONDO:0015329 Orphanet:902 Orphanet:139021 obsolete malformation syndrome with short stature MONDO:0010196 Werner syndrome MONDO:0015331 Orphanet:902 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement @@ -3753,7 +3716,6 @@ MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness- MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:0019589 Orphanet:369939 Orphanet:90642 obsolete syndromic genetic hearing loss MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:0035863 Orphanet:369939 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010334 severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome MONDO:8000032 Orphanet:369939 Orphanet:377789 obsolete malformation syndrome -MONDO:0010336 orofaciodigital syndrome VIII MONDO:0019589 Orphanet:2755 Orphanet:90642 obsolete syndromic genetic hearing loss MONDO:0010336 orofaciodigital syndrome VIII MONDO:8000032 Orphanet:2755 Orphanet:377789 obsolete malformation syndrome MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0015655 Orphanet:137831 Orphanet:166478 obsolete cerebral malformation with epilepsy MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0017118 Orphanet:137831 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature @@ -3817,7 +3779,6 @@ MONDO:0010417 syndromic X-linked intellectual disability Najm type MONDO:0017118 MONDO:0010417 syndromic X-linked intellectual disability Najm type MONDO:0020225 Orphanet:163937 Orphanet:98641 obsolete syndromic cataract MONDO:0010417 syndromic X-linked intellectual disability Najm type MONDO:0035863 Orphanet:163937 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010418 hereditary spastic paraplegia 34 MONDO:0017912 Orphanet:171607 Orphanet:320332 obsolete X-linked pure spastic paraplegia -MONDO:0010420 X-linked erythropoietic protoporphyria MONDO:0015115 Orphanet:443197 Orphanet:101940 obsolete rare genetic metabolic liver disease MONDO:0010421 Bruton-type agammaglobulinemia MONDO:8000031 Orphanet:47 Orphanet:557494 obsolete subtype of a disorder MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome MONDO:0015652 Orphanet:217377 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature MONDO:0010428 chromosome Xp11.23-p11.22 duplication syndrome MONDO:0035863 Orphanet:217377 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -3893,7 +3854,7 @@ MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO: MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:0035863 Orphanet:847 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:8000032 Orphanet:847 Orphanet:377789 obsolete malformation syndrome MONDO:0010520 X-linked Alport syndrome MONDO:8000031 Orphanet:88917 Orphanet:557494 obsolete subtype of a disorder -MONDO:0010523 X-linked reticulate pigmentary disorder MONDO:0015710 Orphanet:85453 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency +MONDO:0010523 X-linked reticulate pigmentary disorder MONDO:0017369 Orphanet:85453 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency MONDO:0010523 X-linked reticulate pigmentary disorder MONDO:0020215 Orphanet:85453 Orphanet:98628 obsolete syndromic corneal dystrophy MONDO:0010524 X-linked sideroblastic anemia with ataxia MONDO:0016803 Orphanet:2802 Orphanet:254837 obsolete unspecified inborn mitochondrial disorder MONDO:0010526 Fabry disease MONDO:0015948 Orphanet:324 Orphanet:183478 obsolete rare genetic skin vascular disorder @@ -4216,10 +4177,6 @@ MONDO:0010773 mitochondrial myopathy with diabetes MONDO:0016794 Orphanet:2596 O MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss MONDO:0016793 Orphanet:90641 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA MONDO:0010779 mitochondrial non-syndromic sensorineural hearing loss MONDO:8000031 Orphanet:90641 Orphanet:557494 obsolete subtype of a disorder MONDO:0010780 mitochondrial myopathy with reversible cytochrome C oxidase deficiency MONDO:0016794 Orphanet:254864 Orphanet:254788 obsolete maternally-inherited mitochondrial myopathy -MONDO:0010785 maternally-inherited diabetes and deafness MONDO:0015888 Orphanet:225 Orphanet:181381 obsolete other rare diabetes mellitus -MONDO:0010785 maternally-inherited diabetes and deafness MONDO:0016793 Orphanet:225 Orphanet:254776 obsolete mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA -MONDO:0010785 maternally-inherited diabetes and deafness MONDO:0019589 Orphanet:225 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0010785 maternally-inherited diabetes and deafness MONDO:0034953 Orphanet:225 Orphanet:519325 obsolete syndromic inherited retinal disorder MONDO:0010786 chronic diarrhea with villous atrophy MONDO:0016792 Orphanet:1670 Orphanet:254767 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA MONDO:0010786 chronic diarrhea with villous atrophy MONDO:0019126 Orphanet:1670 Orphanet:73014 obsolete intractable diarrhea of infancy MONDO:0010786 chronic diarrhea with villous atrophy MONDO:0031697 Orphanet:1670 Orphanet:363300 obsolete genetic intractable diarrhea of infancy @@ -4258,7 +4215,6 @@ MONDO:0010794 NARP syndrome MONDO:0035862 Orphanet:644 Orphanet:611314 obsolete MONDO:0010797 Pearson syndrome MONDO:0015188 Orphanet:699 Orphanet:104013 obsolete metabolic disorder with intestinal involvement MONDO:0010797 Pearson syndrome MONDO:0015895 Orphanet:699 Orphanet:181402 obsolete syndrome with hypoparathyroidism MONDO:0010797 Pearson syndrome MONDO:0016792 Orphanet:699 Orphanet:254767 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA -MONDO:0010797 Pearson syndrome MONDO:0018032 Orphanet:699 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations MONDO:0010801 spondylocamptodactyly syndrome MONDO:8000032 Orphanet:3180 Orphanet:377789 obsolete malformation syndrome MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0015888 Orphanet:2255 Orphanet:181381 obsolete other rare diabetes mellitus MONDO:0010802 pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0035862 Orphanet:2255 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome @@ -4513,7 +4469,7 @@ MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome MONDO:0026203 MONDO:0011116 lung agenesis-heart defect-thumb anomalies syndrome MONDO:8000032 Orphanet:1120 Orphanet:377789 obsolete malformation syndrome MONDO:0011119 iridogoniodysgenesis MONDO:0020216 Orphanet:98634 Orphanet:98631 obsolete secondary dysgenetic glaucoma MONDO:0011128 Sheldon-hall syndrome MONDO:8000032 Orphanet:1147 Orphanet:377789 obsolete malformation syndrome -MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy MONDO:0018035 Orphanet:169095 Orphanet:331217 obsolete syndrome with combined immunodeficiency +MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy MONDO:0018036 Orphanet:169095 Orphanet:331220 obsolete immunodeficiency due to absence of thymus MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type MONDO:0019589 Orphanet:3214 Orphanet:90642 obsolete syndromic genetic hearing loss MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type MONDO:0020253 Orphanet:3214 Orphanet:98683 obsolete syndrome with a symptomatic strabismus MONDO:0011133 deaf blind hypopigmentation syndrome, Yemenite type MONDO:8000032 Orphanet:3214 Orphanet:377789 obsolete malformation syndrome @@ -4735,6 +4691,7 @@ MONDO:0011517 pseudohyperaldosteronism type 2 MONDO:0015582 Orphanet:88660 Orpha MONDO:0011518 Wiedemann-Steiner syndrome MONDO:0035863 Orphanet:319182 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011518 Wiedemann-Steiner syndrome MONDO:8000032 Orphanet:319182 Orphanet:377789 obsolete malformation syndrome MONDO:0011522 hereditary spastic paraplegia 14 MONDO:0017915 Orphanet:100995 Orphanet:320346 obsolete pure or complex autosomal recessive spastic paraplegia +MONDO:0011524 Dianzani autoimmune lymphoproliferative disease MONDO:0015709 Orphanet:275523 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity MONDO:0011528 hyper-IgM syndrome type 2 MONDO:0015976 Orphanet:101089 Orphanet:183666 obsolete hyper-IgM syndrome without susceptibility to opportunistic infections MONDO:0011528 hyper-IgM syndrome type 2 MONDO:8000031 Orphanet:101089 Orphanet:557494 obsolete subtype of a disorder MONDO:0011530 mesomelic dysplasia, Savarirayan type MONDO:0019697 Orphanet:85170 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia @@ -4808,7 +4765,6 @@ MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency MONDO:0015880 MONDO:0011676 PHACE syndrome MONDO:0015145 Orphanet:42775 Orphanet:102006 obsolete neurovascular malformation MONDO:0011676 PHACE syndrome MONDO:0015506 Orphanet:42775 Orphanet:156532 obsolete rare syndrome with cardiac malformations MONDO:0011676 PHACE syndrome MONDO:0017118 Orphanet:42775 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature -MONDO:0011676 PHACE syndrome MONDO:0018718 Orphanet:42775 Orphanet:458827 obsolete vascular tumor with associated anomalies MONDO:0011676 PHACE syndrome MONDO:0018729 Orphanet:42775 Orphanet:459543 obsolete genetic vascular tumor MONDO:0011676 PHACE syndrome MONDO:0018792 Orphanet:42775 Orphanet:477771 obsolete Moyamoya syndrome MONDO:0011676 PHACE syndrome MONDO:0031949 Orphanet:42775 Orphanet:371436 obsolete genetic neurovascular malformation @@ -4835,6 +4791,7 @@ MONDO:0011732 familial digital arthropathy-brachydactyly MONDO:8000032 Orphanet: MONDO:0011735 hyper-IgM syndrome type 3 MONDO:0015975 Orphanet:101090 Orphanet:183663 obsolete hyper-IgM syndrome with susceptibility to opportunistic infections MONDO:0011735 hyper-IgM syndrome type 3 MONDO:8000031 Orphanet:101090 Orphanet:557494 obsolete subtype of a disorder MONDO:0011738 bilateral frontoparietal polymicrogyria MONDO:8000031 Orphanet:101070 Orphanet:557494 obsolete subtype of a disorder +MONDO:0011744 primary intraosseous venous malformation MONDO:0016232 Orphanet:140436 Orphanet:211252 obsolete rare venous malformation MONDO:0011744 primary intraosseous venous malformation MONDO:0016524 Orphanet:140436 Orphanet:235832 obsolete congenital vascular bone syndrome MONDO:0011749 oculocutaneous albinism type 1B MONDO:0020253 Orphanet:79434 Orphanet:98683 obsolete syndrome with a symptomatic strabismus MONDO:0011749 oculocutaneous albinism type 1B MONDO:8000031 Orphanet:79434 Orphanet:557494 obsolete subtype of a disorder @@ -4878,6 +4835,7 @@ MONDO:0011803 hereditary spastic paraplegia 7 MONDO:0017915 Orphanet:99013 Orpha MONDO:0011803 hereditary spastic paraplegia 7 MONDO:0018157 Orphanet:99013 Orphanet:35696 obsolete mitochondrial disorder due to a defect in mitochondrial protein synthesis MONDO:0011803 hereditary spastic paraplegia 7 MONDO:0018609 Orphanet:99013 Orphanet:441434 obsolete syndromic hereditary optic neuropathy MONDO:0011804 autoimmune lymphoproliferative syndrome type 2B MONDO:0015709 Orphanet:275517 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity +MONDO:0011806 osteofibrous dysplasia MONDO:0800089 Orphanet:488265 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components MONDO:0011810 horizontal gaze palsy with progressive scoliosis MONDO:0017120 Orphanet:2744 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature MONDO:0011810 horizontal gaze palsy with progressive scoliosis MONDO:0020253 Orphanet:2744 Orphanet:98683 obsolete syndrome with a symptomatic strabismus MONDO:0011812 Duane-radial ray syndrome MONDO:0015246 Orphanet:93293 Orphanet:117573 obsolete syndromic anorectal malformation @@ -4905,7 +4863,6 @@ MONDO:0011868 lethal congenital contracture syndrome 2 MONDO:8000032 Orphanet:13 MONDO:0011871 Niemann-Pick disease type B MONDO:0016133 Orphanet:77293 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy MONDO:0011871 Niemann-Pick disease type B MONDO:0018799 Orphanet:77293 Orphanet:477811 obsolete rare hypercholesterolemia MONDO:0011871 Niemann-Pick disease type B MONDO:0035862 Orphanet:77293 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0011872 Griscelli syndrome type 2 MONDO:0018032 Orphanet:79477 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations MONDO:0011872 Griscelli syndrome type 2 MONDO:0018042 Orphanet:79477 Orphanet:331249 obsolete immunodeficiency syndrome with abnormal pigmentation MONDO:0011872 Griscelli syndrome type 2 MONDO:0019305 Orphanet:79477 Orphanet:79391 obsolete immune deficiency with skin involvement MONDO:0011872 Griscelli syndrome type 2 MONDO:0026166 Orphanet:79477 Orphanet:183494 obsolete genetic immune deficiency with skin involvement @@ -4940,7 +4897,6 @@ MONDO:0011922 nonimmune chronic idiopathic neutropenia of adults MONDO:0015822 O MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A MONDO:0016149 Orphanet:258 Orphanet:207094 obsolete qualitative or quantitative defects of merosin MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A MONDO:0035862 Orphanet:258 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A MONDO:8000032 Orphanet:258 Orphanet:377789 obsolete malformation syndrome -MONDO:0011927 tufted angioma MONDO:0016228 Orphanet:1063 Orphanet:211237 obsolete rare vascular tumor MONDO:0011927 tufted angioma MONDO:0018729 Orphanet:1063 Orphanet:459543 obsolete genetic vascular tumor MONDO:0011928 caudal duplication MONDO:0015246 Orphanet:1756 Orphanet:117573 obsolete syndromic anorectal malformation MONDO:0011928 caudal duplication MONDO:0017120 Orphanet:1756 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature @@ -4958,7 +4914,6 @@ MONDO:0011934 dermatofibrosarcoma protuberans MONDO:0019300 Orphanet:31112 Orpha MONDO:0011936 microphthalmia with brain and digit anomalies MONDO:0020225 Orphanet:139471 Orphanet:98641 obsolete syndromic cataract MONDO:0011936 microphthalmia with brain and digit anomalies MONDO:0035863 Orphanet:139471 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011936 microphthalmia with brain and digit anomalies MONDO:8000032 Orphanet:139471 Orphanet:377789 obsolete malformation syndrome -MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation MONDO:0015709 Orphanet:1855 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity MONDO:0011939 Spondyloenchondrodysplasia with immune dysregulation MONDO:8000032 Orphanet:1855 Orphanet:377789 obsolete malformation syndrome MONDO:0011945 Gaucher disease perinatal lethal MONDO:0017273 Orphanet:85212 Orphanet:281241 obsolete autosomal ichthyosis syndrome with fatal disease course MONDO:0011945 Gaucher disease perinatal lethal MONDO:8000031 Orphanet:85212 Orphanet:557494 obsolete subtype of a disorder @@ -5012,7 +4967,6 @@ MONDO:0012013 Weill-Marchesani syndrome 2, dominant MONDO:0034937 Orphanet:2084 MONDO:0012013 Weill-Marchesani syndrome 2, dominant MONDO:8000032 Orphanet:2084 Orphanet:377789 obsolete malformation syndrome MONDO:0012016 capillary malformation-arteriovenous malformation syndrome MONDO:0016229 Orphanet:137667 Orphanet:211240 obsolete hereditary vascular anomaly MONDO:0012016 capillary malformation-arteriovenous malformation syndrome MONDO:8000032 Orphanet:137667 Orphanet:377789 obsolete malformation syndrome -MONDO:0012019 spondyloepiphyseal dysplasia, Kimberley type MONDO:0018239 Orphanet:93283 Orphanet:364817 obsolete aggrecan-related bone disorder MONDO:0012020 chromosome 22q11.2 microduplication syndrome MONDO:8000032 Orphanet:1727 Orphanet:377789 obsolete malformation syndrome MONDO:0012032 Braddock syndrome MONDO:0017159 Orphanet:52047 Orphanet:275853 obsolete syndrome with pulmonary hypertension as a major feature MONDO:0012032 Braddock syndrome MONDO:0043008 Orphanet:52047 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -5042,7 +4996,6 @@ MONDO:0012092 hereditary sensory and autonomic neuropathy type 5 MONDO:0015366 O MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome MONDO:0015319 Orphanet:364577 Orphanet:138044 obsolete rare disease with Pierre Robin syndrome MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome MONDO:0018187 Orphanet:364577 Orphanet:363294 obsolete hereditary syndromic Pierre Robin syndrome MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome MONDO:0035863 Orphanet:364577 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome MONDO:0800094 Orphanet:364577 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome MONDO:8000032 Orphanet:364577 Orphanet:377789 obsolete malformation syndrome MONDO:0012099 AICA-ribosiduria MONDO:0034953 Orphanet:250977 Orphanet:519325 obsolete syndromic inherited retinal disorder MONDO:0012099 AICA-ribosiduria MONDO:0035862 Orphanet:250977 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome @@ -5279,7 +5232,6 @@ MONDO:0012574 Potocki-Lupski syndrome MONDO:0035863 Orphanet:1713 Orphanet:61132 MONDO:0012574 Potocki-Lupski syndrome MONDO:8000032 Orphanet:1713 Orphanet:377789 obsolete malformation syndrome MONDO:0012579 autoimmune pulmonary alveolar proteinosis MONDO:0017027 Orphanet:747 Orphanet:264740 obsolete primary interstitial lung disease specific to adulthood MONDO:0012580 hereditary pulmonary alveolar proteinosis MONDO:0015052 Orphanet:264675 Orphanet:100049 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies -MONDO:0012580 hereditary pulmonary alveolar proteinosis MONDO:0015133 Orphanet:264675 Orphanet:101985 obsolete quantitative and/or qualitative congenital phagocyte defect MONDO:0012582 interstitial lung disease due to ABCA3 deficiency MONDO:0015052 Orphanet:440402 Orphanet:100049 obsolete primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies MONDO:0012589 Pitt-Hopkins syndrome MONDO:0035863 Orphanet:2896 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012589 Pitt-Hopkins syndrome MONDO:8000032 Orphanet:2896 Orphanet:377789 obsolete malformation syndrome @@ -5308,11 +5260,8 @@ MONDO:0012634 craniofacial dysplasia - osteopenia syndrome MONDO:8000032 Orphane MONDO:0012635 COG8-congenital disorder of glycosylation MONDO:0018287 Orphanet:95428 Orphanet:371071 obsolete congenital disorder of glycosylation with epilepsy as a major feature MONDO:0012635 COG8-congenital disorder of glycosylation MONDO:0035862 Orphanet:95428 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0018284 Orphanet:263508 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement -MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0018290 Orphanet:263508 Orphanet:371183 obsolete congenital disorder of glycosylation with cardiac malformation as a major feature MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0018292 Orphanet:263508 Orphanet:371195 obsolete congenital disorder of glycosylation-related bone disorder -MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0018295 Orphanet:263508 Orphanet:371212 obsolete congenital disorder of glycosylation with deafness as a major feature -MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0019711 Orphanet:263508 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0035862 Orphanet:263508 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome +MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0035863 Orphanet:263508 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012638 microphthalmia-brain atrophy syndrome MONDO:0015918 Orphanet:77299 Orphanet:182070 obsolete rare neurodegenerative disease MONDO:0012638 microphthalmia-brain atrophy syndrome MONDO:0035863 Orphanet:77299 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012638 microphthalmia-brain atrophy syndrome MONDO:8000032 Orphanet:77299 Orphanet:377789 obsolete malformation syndrome @@ -5355,8 +5304,8 @@ MONDO:0012719 combined PSAP deficiency MONDO:0018299 Orphanet:139406 Orphanet:37 MONDO:0012719 combined PSAP deficiency MONDO:0019058 Orphanet:139406 Orphanet:68385 obsolete neurometabolic disease MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0018284 Orphanet:263516 Orphanet:371047 obsolete congenital disorder of glycosylation with neurological involvement MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0035862 Orphanet:263516 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:8000031 Orphanet:263516 Orphanet:557494 obsolete subtype of a disorder MONDO:0012724 familial cold autoinflammatory syndrome 2 MONDO:0017370 Orphanet:247868 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement +MONDO:0012725 lipoprotein glomerulopathy MONDO:0026192 Orphanet:329481 Orphanet:183586 obsolete genetic glomerular disease MONDO:0012726 autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome MONDO:0018790 Orphanet:73229 Orphanet:477765 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency MONDO:0012727 mucocutaneous lymph node syndrome MONDO:0015489 Orphanet:2331 Orphanet:156143 obsolete predominantly medium-vessel vasculitis MONDO:0012734 SERKAL syndrome MONDO:0017965 Orphanet:139466 Orphanet:325109 obsolete syndrome with 46,XX disorder of sex development @@ -5452,6 +5401,7 @@ MONDO:0012915 chromosome 1q21.1 duplication syndrome MONDO:8000032 Orphanet:2509 MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome MONDO:8000032 Orphanet:261349 Orphanet:377789 obsolete malformation syndrome MONDO:0012927 chromosome 1q41-q42 deletion syndrome MONDO:8000032 Orphanet:250999 Orphanet:377789 obsolete malformation syndrome MONDO:0012928 hereditary spastic paraplegia 42 MONDO:0015088 Orphanet:171863 Orphanet:100980 obsolete autosomal dominant pure spastic paraplegia +MONDO:0012930 autosomal recessive severe congenital neutropenia due to G6PC3 deficiency MONDO:0018032 Orphanet:331176 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations MONDO:0012948 chromosome 6pter-p24 deletion syndrome MONDO:0020222 Orphanet:96125 Orphanet:98638 obsolete rare disease with glaucoma as a major feature MONDO:0012948 chromosome 6pter-p24 deletion syndrome MONDO:0035863 Orphanet:96125 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012948 chromosome 6pter-p24 deletion syndrome MONDO:8000032 Orphanet:96125 Orphanet:377789 obsolete malformation syndrome @@ -5486,7 +5436,6 @@ MONDO:0013005 EAST syndrome MONDO:0035862 Orphanet:199343 Orphanet:611314 obsole MONDO:0013006 isolated growth hormone deficiency type IB MONDO:8000031 Orphanet:231671 Orphanet:557494 obsolete subtype of a disorder MONDO:0013007 combined immunodeficiency due to ORAI1 deficiency MONDO:8000031 Orphanet:317428 Orphanet:557494 obsolete subtype of a disorder MONDO:0013008 combined immunodeficiency due to STIM1 deficiency MONDO:8000031 Orphanet:317430 Orphanet:557494 obsolete subtype of a disorder -MONDO:0013014 spondyloepimetaphyseal dysplasia, aggrecan type MONDO:0018239 Orphanet:171866 Orphanet:364817 obsolete aggrecan-related bone disorder MONDO:0013016 leukocyte adhesion deficiency 3 MONDO:8000031 Orphanet:99844 Orphanet:557494 obsolete subtype of a disorder MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0017369 Orphanet:210115 Orphanet:290839 obsolete autoinflammatory syndrome with immune deficiency MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis MONDO:0017370 Orphanet:210115 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement @@ -5748,9 +5697,6 @@ MONDO:0013523 Nestor-Guillermo progeria syndrome MONDO:0031689 Orphanet:280576 O MONDO:0013523 Nestor-Guillermo progeria syndrome MONDO:8000032 Orphanet:280576 Orphanet:377789 obsolete malformation syndrome MONDO:0013531 PSPH deficiency MONDO:8000031 Orphanet:79350 Orphanet:557494 obsolete subtype of a disorder MONDO:0013539 hypotonia-failure to thrive-microcephaly syndrome MONDO:0019602 Orphanet:79507 Orphanet:91088 obsolete other inborn metabolic disease -MONDO:0013540 deafness-lymphedema-leukemia syndrome MONDO:0019044 Orphanet:3226 Orphanet:68347 obsolete tumor of hematopoietic and lymphoid tissues -MONDO:0013540 deafness-lymphedema-leukemia syndrome MONDO:0019589 Orphanet:3226 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0013540 deafness-lymphedema-leukemia syndrome MONDO:8000032 Orphanet:3226 Orphanet:377789 obsolete malformation syndrome MONDO:0013541 complex cortical dysplasia with other brain malformations 1 MONDO:0015572 Orphanet:300570 Orphanet:163209 obsolete cerebral malformation due to abnormal neuronal migration MONDO:0013541 complex cortical dysplasia with other brain malformations 1 MONDO:0035863 Orphanet:300570 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013546 mitochondrial complex V (ATP synthase) deficiency nuclear type 2 MONDO:0017718 Orphanet:1194 Orphanet:309136 obsolete mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes @@ -5785,7 +5731,6 @@ MONDO:0013595 hyperbiliverdinemia MONDO:0018928 Orphanet:276405 Orphanet:57146 o MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0015709 Orphanet:391487 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0015979 Orphanet:391487 Orphanet:183710 obsolete hereditary predisposition to infections MONDO:0013599 autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0026209 Orphanet:391487 Orphanet:183643 obsolete genetic polyendocrinopathy -MONDO:0013607 monocytopenia with susceptibility to infections MONDO:0015133 Orphanet:228423 Orphanet:101985 obsolete quantitative and/or qualitative congenital phagocyte defect MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome MONDO:0019589 Orphanet:293958 Orphanet:90642 obsolete syndromic genetic hearing loss MONDO:0013614 hypertelorism-preauricular sinus-punctual pits-deafness syndrome MONDO:8000032 Orphanet:293958 Orphanet:377789 obsolete malformation syndrome MONDO:0013615 craniosynostosis and dental anomalies MONDO:0015336 Orphanet:284149 Orphanet:139042 obsolete malformation syndrome with odontal and/or periodontal component @@ -6126,7 +6071,6 @@ MONDO:0014303 hereditary spastic paraplegia 64 MONDO:0035862 Orphanet:401810 Orp MONDO:0014304 hereditary spastic paraplegia 61 MONDO:0015089 Orphanet:401780 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia MONDO:0014305 hereditary spastic paraplegia 63 MONDO:0015089 Orphanet:401805 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:0015489 Orphanet:404553 Orphanet:156143 obsolete predominantly medium-vessel vasculitis -MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:0015710 Orphanet:404553 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency MONDO:0014306 vasculitis due to ADA2 deficiency MONDO:0016517 Orphanet:404553 Orphanet:233655 obsolete rare genetic vascular disease MONDO:0014309 obesity due to CEP19 deficiency MONDO:0020075 Orphanet:397615 Orphanet:98267 obsolete hereditary non-syndromic obesity MONDO:0014309 obesity due to CEP19 deficiency MONDO:8000031 Orphanet:397615 Orphanet:557494 obsolete subtype of a disorder @@ -6199,13 +6143,13 @@ MONDO:0014402 severe neurodegenerative syndrome with lipodystrophy MONDO:0015918 MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0015118 Orphanet:425120 Orphanet:101944 obsolete rare pulmonary disease MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0015490 Orphanet:425120 Orphanet:156146 obsolete predominantly small-vessel vasculitis MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0015510 Orphanet:425120 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0015710 Orphanet:425120 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0016517 Orphanet:425120 Orphanet:233655 obsolete rare genetic vascular disease MONDO:0014405 STING-associated vasculopathy with onset in infancy MONDO:0017370 Orphanet:425120 Orphanet:290842 obsolete autoinflammatory syndrome with skin involvement MONDO:0014412 hyperlipoproteinemia, type 1D MONDO:8000031 Orphanet:535458 Orphanet:557494 obsolete subtype of a disorder MONDO:0014413 orofaciodigital syndrome type 14 MONDO:0017119 Orphanet:434179 Orphanet:269528 obsolete syndrome with microcephaly as major feature MONDO:0014413 orofaciodigital syndrome type 14 MONDO:0035863 Orphanet:434179 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014413 orofaciodigital syndrome type 14 MONDO:8000032 Orphanet:434179 Orphanet:377789 obsolete malformation syndrome +MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease MONDO:0015709 Orphanet:438159 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease MONDO:0015939 Orphanet:438159 Orphanet:182228 obsolete systemic autoimmune disease MONDO:0014417 spinocerebellar ataxia type 38 MONDO:0018118 Orphanet:423296 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement MONDO:0014419 ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0017118 Orphanet:370022 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature @@ -6225,6 +6169,7 @@ MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineura MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:0019589 Orphanet:436174 Orphanet:90642 obsolete syndromic genetic hearing loss MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:0019590 Orphanet:436174 Orphanet:90692 obsolete rare endocrine growth disease MONDO:0014455 cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome MONDO:0020225 Orphanet:436174 Orphanet:98641 obsolete syndromic cataract +MONDO:0014456 autosomal recessive severe congenital neutropenia due to JAGN1 deficiency MONDO:0018032 Orphanet:423384 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations MONDO:0014460 nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome MONDO:0020097 Orphanet:423454 Orphanet:98357 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency MONDO:0018118 Orphanet:431361 Orphanet:352306 obsolete disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement MONDO:0014464 progressive encephalopathy with leukodystrophy due to DECR deficiency MONDO:0019058 Orphanet:431361 Orphanet:68385 obsolete neurometabolic disease @@ -6243,6 +6188,7 @@ MONDO:0014489 limb-girdle muscular dystrophy due to POMK deficiency MONDO:001905 MONDO:0014490 ketoacidosis due to monocarboxylate transporter-1 deficiency MONDO:0018579 Orphanet:438075 Orphanet:438072 obsolete disorder of ketone body transport MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome MONDO:0018558 Orphanet:420686 Orphanet:434809 obsolete syndrome with wooly hair MONDO:0014492 wooly hair-palmoplantar keratoderma syndrome MONDO:0020097 Orphanet:420686 Orphanet:98357 obsolete autosomal recessive disease with focal palmoplantar keratoderma as a major feature +MONDO:0014493 autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency MONDO:0015709 Orphanet:436159 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome MONDO:0020240 Orphanet:436245 Orphanet:98661 obsolete syndromic retinitis pigmentosa MONDO:0014495 retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome MONDO:0035863 Orphanet:436245 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014497 polyendocrine-polyneuropathy syndrome MONDO:0015361 Orphanet:453533 Orphanet:140459 obsolete autosomal recessive hereditary demyelinating motor and sensory neuropathy @@ -6314,6 +6260,7 @@ MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies- MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MONDO:0017644 Orphanet:457212 Orphanet:306712 obsolete rare tremor disorder MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MONDO:0017663 Orphanet:457212 Orphanet:307061 obsolete inherited tremor disorder MONDO:0014559 progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome MONDO:0035863 Orphanet:457212 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0014561 3-methylglutaconic aciduria, type VIIB MONDO:0018032 Orphanet:445038 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations MONDO:0014561 3-methylglutaconic aciduria, type VIIB MONDO:0019058 Orphanet:445038 Orphanet:68385 obsolete neurometabolic disease MONDO:0014561 3-methylglutaconic aciduria, type VIIB MONDO:0020228 Orphanet:445038 Orphanet:98644 obsolete cataract associated with a metabolic disease MONDO:0014561 3-methylglutaconic aciduria, type VIIB MONDO:0035862 Orphanet:445038 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome @@ -6342,7 +6289,6 @@ MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - p MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:0016565 Orphanet:444077 Orphanet:240371 obsolete syndromic genetic obesity MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:0026187 Orphanet:444077 Orphanet:183570 obsolete genetic malformation syndrome with short stature MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:0035863 Orphanet:444077 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:0800094 Orphanet:444077 Orphanet:498454 obsolete dysostosis with brachydactyly with extraskeletal manifestations MONDO:0014609 cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome MONDO:8000032 Orphanet:444077 Orphanet:377789 obsolete malformation syndrome MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 MONDO:0015918 Orphanet:457406 Orphanet:182070 obsolete rare neurodegenerative disease MONDO:0014611 multiple mitochondrial dysfunctions syndrome 4 MONDO:0018609 Orphanet:457406 Orphanet:441434 obsolete syndromic hereditary optic neuropathy @@ -6370,9 +6316,7 @@ MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-ep MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome MONDO:0034962 Orphanet:457351 Orphanet:519343 obsolete rare ophthalmic disorder with cortical involvement MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome MONDO:0035862 Orphanet:457351 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0014698 microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome MONDO:8000032 Orphanet:457351 Orphanet:377789 obsolete malformation syndrome -MONDO:0014700 Au-Kline syndrome MONDO:0035863 Orphanet:2729 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014700 Au-Kline syndrome MONDO:8000031 Orphanet:453504 Orphanet:557494 obsolete subtype of a disorder -MONDO:0014700 Au-Kline syndrome MONDO:8000032 Orphanet:2729 Orphanet:377789 obsolete malformation syndrome MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B MONDO:0015089 Orphanet:447760 Orphanet:100981 obsolete autosomal recessive complex spastic paraplegia MONDO:0014702 autosomal recessive complex spastic paraplegia type 9B MONDO:0035862 Orphanet:447760 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0014704 skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome MONDO:0800091 Orphanet:477831 Orphanet:498448 obsolete overgrowth or tall stature syndrome with skeletal involvement @@ -6639,7 +6583,6 @@ MONDO:0015097 aortic valve dysplasia MONDO:8000031 Orphanet:101043 Orphanet:5574 MONDO:0015099 unilateral hemispheric polymicrogyria MONDO:8000031 Orphanet:101071 Orphanet:557494 obsolete subtype of a disorder MONDO:0015101 Marin-Amat syndrome MONDO:8000031 Orphanet:101104 Orphanet:557494 obsolete subtype of a disorder MONDO:0015103 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome MONDO:8000032 Orphanet:101206 Orphanet:377789 obsolete malformation syndrome -MONDO:0015104 porphyria cutanea tarda MONDO:0019800 Orphanet:101330 Orphanet:95161 obsolete chronic hepatic porphyria MONDO:0015106 obsolete rare urogenital disease MONDO:8000033 Orphanet:101433 Orphanet:557492 obsolete group of disorders MONDO:0015107 obsolete rare genetic eye disease MONDO:0021198 Orphanet:101435 Orphanet:98053 obsolete rare genetic disease MONDO:0015108 obsolete rare non-syndromic intellectual disability MONDO:0000001 Orphanet:101685 Orphanet:377788 disease @@ -6983,7 +6926,6 @@ MONDO:0015391 nasopharyngeal teratoma MONDO:8000031 Orphanet:141107 Orphanet:557 MONDO:0015392 nasal glial heterotopia MONDO:0015503 Orphanet:141112 Orphanet:156246 obsolete nose and cavum anomaly MONDO:0015392 nasal glial heterotopia MONDO:0020035 Orphanet:141112 Orphanet:98061 obsolete rare otorhinolaryngologic tumor MONDO:0015393 nasal ganglioglioma MONDO:0020035 Orphanet:141115 Orphanet:98061 obsolete rare otorhinolaryngologic tumor -MONDO:0015393 nasal ganglioglioma MONDO:8000031 Orphanet:141115 Orphanet:557494 obsolete subtype of a disorder MONDO:0015394 nasal encephalocele MONDO:0015503 Orphanet:141118 Orphanet:156246 obsolete nose and cavum anomaly MONDO:0015394 nasal encephalocele MONDO:8000031 Orphanet:141118 Orphanet:557494 obsolete subtype of a disorder MONDO:0015395 congenital subglottic stenosis MONDO:0015504 Orphanet:141121 Orphanet:156249 obsolete larynx anomaly @@ -7025,8 +6967,6 @@ MONDO:0015419 midline cervical cleft MONDO:0015412 Orphanet:141288 Orphanet:1412 MONDO:0015419 midline cervical cleft MONDO:8000030 Orphanet:141288 Orphanet:377791 obsolete morphological anomaly MONDO:0015420 cleft lip and alveolus MONDO:0016034 Orphanet:141291 Orphanet:1991 obsolete cleft lip with or without cleft palate MONDO:0015420 cleft lip and alveolus MONDO:8000030 Orphanet:141291 Orphanet:377791 obsolete morphological anomaly -MONDO:0015421 orofaciodigital syndrome type 12 MONDO:8000032 Orphanet:141327 Orphanet:377789 obsolete malformation syndrome -MONDO:0015422 orofaciodigital syndrome type 13 MONDO:8000032 Orphanet:141330 Orphanet:377789 obsolete malformation syndrome MONDO:0015425 lethal recessive chondrodysplasia MONDO:0019718 Orphanet:1423 Orphanet:93465 obsolete lethal chondrodysplasia MONDO:0015425 lethal recessive chondrodysplasia MONDO:8000032 Orphanet:1423 Orphanet:377789 obsolete malformation syndrome MONDO:0015426 Desbuquois dysplasia MONDO:0015332 Orphanet:1425 Orphanet:139030 obsolete rare developmental defect with connective tissue involvement @@ -7062,8 +7002,8 @@ MONDO:0015441 ring chromosome 7 MONDO:0018186 Orphanet:1449 Orphanet:363203 obso MONDO:0015441 ring chromosome 7 MONDO:8000032 Orphanet:1449 Orphanet:377789 obsolete malformation syndrome MONDO:0015443 chromosome 8-derived supernumerary ring/marker MONDO:0018186 Orphanet:1450 Orphanet:363203 obsolete ring chromosome MONDO:0015443 chromosome 8-derived supernumerary ring/marker MONDO:8000032 Orphanet:1450 Orphanet:377789 obsolete malformation syndrome -MONDO:0015445 autosomal dominant coarctation of aorta MONDO:8000031 Orphanet:1455 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015446 atypical coarctation of aorta MONDO:8000031 Orphanet:1456 Orphanet:557494 obsolete subtype of a disorder +MONDO:0015446 atypical coarctation of aorta MONDO:0020286 Orphanet:1456 Orphanet:98718 obsolete aortic malformation +MONDO:0015446 atypical coarctation of aorta MONDO:8000030 Orphanet:1456 Orphanet:377791 obsolete morphological anomaly MONDO:0015448 mitochondrial complex III deficiency MONDO:0016805 Orphanet:1460 Orphanet:254846 obsolete isolated oxidative phosphorylation complex disorder MONDO:0015448 mitochondrial complex III deficiency MONDO:0035862 Orphanet:1460 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0015449 criss-cross heart MONDO:8000030 Orphanet:1461 Orphanet:377791 obsolete morphological anomaly @@ -7173,7 +7113,6 @@ MONDO:0015518 infantile bilateral striatal necrosis MONDO:0035862 Orphanet:1576 MONDO:0015519 congenital or early infantile CACH syndrome MONDO:8000031 Orphanet:157713 Orphanet:557494 obsolete subtype of a disorder MONDO:0015520 late infantile CACH syndrome MONDO:8000031 Orphanet:157716 Orphanet:557494 obsolete subtype of a disorder MONDO:0015521 juvenile or adult CACH syndrome MONDO:8000031 Orphanet:157719 Orphanet:557494 obsolete subtype of a disorder -MONDO:0015523 epithelioid hemangioendothelioma MONDO:0016228 Orphanet:157791 Orphanet:211237 obsolete rare vascular tumor MONDO:0015523 epithelioid hemangioendothelioma MONDO:0018729 Orphanet:157791 Orphanet:459543 obsolete genetic vascular tumor MONDO:0015524 hyperplastic polyposis syndrome MONDO:0018188 Orphanet:157798 Orphanet:363314 obsolete hereditary intestinal polyposis MONDO:0015525 congenital pseudoarthrosis of the limbs MONDO:0015227 Orphanet:157808 Orphanet:109011 obsolete non-syndromic limb malformation @@ -7199,8 +7138,7 @@ MONDO:0015555 plaque-form urticaria pigmentosa MONDO:8000031 Orphanet:158769 Orp MONDO:0015556 nodular urticaria pigmentosa MONDO:8000031 Orphanet:158772 Orphanet:557494 obsolete subtype of a disorder MONDO:0015562 distal monosomy 17q MONDO:8000032 Orphanet:1597 Orphanet:377789 obsolete malformation syndrome MONDO:0015565 cap polyposis MONDO:0015187 Orphanet:160148 Orphanet:104012 obsolete rare inflammatory bowel disease -MONDO:0015566 2q24 microdeletion syndrome MONDO:0020226 Orphanet:1617 Orphanet:98642 obsolete chromosomal anomaly with cataract -MONDO:0015566 2q24 microdeletion syndrome MONDO:8000032 Orphanet:1617 Orphanet:377789 obsolete malformation syndrome +MONDO:0015566 2q24 microdeletion syndrome MONDO:8000031 Orphanet:1617 Orphanet:557494 obsolete subtype of a disorder MONDO:0015567 cataract-glaucoma syndrome MONDO:0020225 Orphanet:162 Orphanet:98641 obsolete syndromic cataract MONDO:0015567 cataract-glaucoma syndrome MONDO:8000032 Orphanet:162 Orphanet:377789 obsolete malformation syndrome MONDO:0015568 isolated congenital nasal pyriform aperture stenosis MONDO:0015503 Orphanet:162516 Orphanet:156246 obsolete nose and cavum anomaly @@ -7296,10 +7234,9 @@ MONDO:0015672 diprosopus MONDO:0018731 Orphanet:1681 Orphanet:459787 obsolete le MONDO:0015672 diprosopus MONDO:8000030 Orphanet:1681 Orphanet:377791 obsolete morphological anomaly MONDO:0015673 obsolete rare cardiac tumor MONDO:0019996 Orphanet:168194 Orphanet:97929 obsolete rare cardiac disease MONDO:0015673 obsolete rare cardiac tumor MONDO:0020031 Orphanet:168194 Orphanet:98057 obsolete rare tumor -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis MONDO:0034953 Orphanet:168491 Orphanet:519325 obsolete syndromic inherited retinal disorder MONDO:0015675 distomatosis MONDO:0015577 Orphanet:1685 Orphanet:163588 obsolete rare parasitic disease MONDO:0015677 cardiac diverticulum MONDO:8000030 Orphanet:1686 Orphanet:377791 obsolete morphological anomaly -MONDO:0015678 dysplasia of head of femur, Meyer type MONDO:0019692 Orphanet:168621 Orphanet:93429 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia +MONDO:0015678 dysplasia of head of femur, Meyer type MONDO:0019684 Orphanet:168621 Orphanet:93419 obsolete rare bone disease MONDO:0015679 obsolete autosomal thrombocytopenia with normal platelets MONDO:0017057 Orphanet:168629 Orphanet:268322 obsolete hereditary thrombocytopenia with normal platelets MONDO:0015679 obsolete autosomal thrombocytopenia with normal platelets MONDO:8000031 Orphanet:168629 Orphanet:557494 obsolete subtype of a disorder MONDO:0015680 obsolete rare pervasive developmental disorder MONDO:0019117 Orphanet:168778 Orphanet:71859 obsolete genetic nervous system disorder @@ -7345,7 +7282,7 @@ MONDO:0015729 mosaic trisomy 16 MONDO:0020051 Orphanet:1708 Orphanet:98131 obsol MONDO:0015729 mosaic trisomy 16 MONDO:8000032 Orphanet:1708 Orphanet:377789 obsolete malformation syndrome MONDO:0015730 mosaic trisomy 17 MONDO:0020051 Orphanet:1711 Orphanet:98131 obsolete total autosomal trisomy MONDO:0015730 mosaic trisomy 17 MONDO:8000032 Orphanet:1711 Orphanet:377789 obsolete malformation syndrome -MONDO:0015734 rectal duplication MONDO:0019999 Orphanet:171220 Orphanet:97945 obsolete intestinal malformation +MONDO:0015734 rectal duplication MONDO:0015211 Orphanet:171220 Orphanet:108967 obsolete non-syndromic intestinal malformation MONDO:0015734 rectal duplication MONDO:8000030 Orphanet:171220 Orphanet:377791 obsolete morphological anomaly MONDO:0015735 severe congenital nemaline myopathy MONDO:0018701 Orphanet:171430 Orphanet:457074 obsolete congenital nemaline myopathy MONDO:0015736 intermediate nemaline myopathy MONDO:0018701 Orphanet:171433 Orphanet:457074 obsolete congenital nemaline myopathy @@ -7675,7 +7612,7 @@ MONDO:0016025 myoclonic-astatic epilepsy MONDO:0035862 Orphanet:1942 Orphanet:61 MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome MONDO:0043008 Orphanet:1969 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0016031 facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome MONDO:8000032 Orphanet:1969 Orphanet:377789 obsolete malformation syndrome MONDO:0016032 femoral agenesis/hypoplasia MONDO:0017420 Orphanet:1987 Orphanet:294927 obsolete intercalary limb defects -MONDO:0016032 femoral agenesis/hypoplasia MONDO:8000032 Orphanet:1987 Orphanet:377789 obsolete malformation syndrome +MONDO:0016032 femoral agenesis/hypoplasia MONDO:8000030 Orphanet:1987 Orphanet:377791 obsolete morphological anomaly MONDO:0016033 Cornelia de Lange syndrome MONDO:0015216 Orphanet:199 Orphanet:108979 obsolete syndromic diaphragmatic or abdominal wall malformation MONDO:0016033 Cornelia de Lange syndrome MONDO:0015329 Orphanet:199 Orphanet:139021 obsolete malformation syndrome with short stature MONDO:0016033 Cornelia de Lange syndrome MONDO:0015880 Orphanet:199 Orphanet:180779 obsolete syndromic diaphragmatic or thoracic malformation @@ -7771,6 +7708,7 @@ MONDO:0016085 Cole-Carpenter syndrome MONDO:0026182 Orphanet:2050 Orphanet:18354 MONDO:0016085 Cole-Carpenter syndrome MONDO:0043008 Orphanet:2050 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0016085 Cole-Carpenter syndrome MONDO:8000032 Orphanet:2050 Orphanet:377789 obsolete malformation syndrome MONDO:0016087 progressive non-infectious anterior vertebral fusion MONDO:0019711 Orphanet:2062 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement +MONDO:0016087 progressive non-infectious anterior vertebral fusion MONDO:0043008 Orphanet:2062 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0016087 progressive non-infectious anterior vertebral fusion MONDO:8000032 Orphanet:2062 Orphanet:377789 obsolete malformation syndrome MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:0019058 Orphanet:206428 Orphanet:68385 obsolete neurometabolic disease MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:0019743 Orphanet:206428 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease @@ -7870,8 +7808,6 @@ MONDO:0016219 dysmorphism-pectus carinatum-joint laxity syndrome MONDO:0043008 O MONDO:0016219 dysmorphism-pectus carinatum-joint laxity syndrome MONDO:8000032 Orphanet:2104 Orphanet:377789 obsolete malformation syndrome MONDO:0016220 congenital temporomandibular joint ankylosis MONDO:0016221 Orphanet:210576 Orphanet:210581 obsolete temporomandibular joint anomaly MONDO:0016221 obsolete temporomandibular joint anomaly MONDO:0019038 Orphanet:210581 Orphanet:68329 obsolete rare maxillo-facial surgical disease -MONDO:0016222 spindle cell hemangioma MONDO:0016228 Orphanet:210584 Orphanet:211237 obsolete rare vascular tumor -MONDO:0016223 infantile hemangioma of rare localization MONDO:0016228 Orphanet:210589 Orphanet:211237 obsolete rare vascular tumor MONDO:0016224 obsolete autosomal dominant proximal spinal muscular atrophy MONDO:0024257 Orphanet:211037 Orphanet:98505 hereditary motor neuron disease MONDO:0016225 specific learning disability MONDO:0020009 Orphanet:211047 Orphanet:98006 obsolete rare neurologic disease MONDO:0016228 obsolete rare vascular tumor MONDO:0019063 Orphanet:211237 Orphanet:68419 obsolete vascular anomaly @@ -7883,9 +7819,7 @@ MONDO:0016232 obsolete rare venous malformation MONDO:0016230 Orphanet:211252 Or MONDO:0016233 obsolete rare lymphatic system malformation MONDO:0016230 Orphanet:211255 Orphanet:211243 obsolete simple vascular malformation MONDO:0016234 obsolete rare arteriovenous malformation MONDO:0016230 Orphanet:211266 Orphanet:211243 obsolete simple vascular malformation MONDO:0016235 obsolete complex vascular malformation with associated anomalies MONDO:0019063 Orphanet:211277 Orphanet:68419 obsolete vascular anomaly -MONDO:0016236 kaposiform hemangioendothelioma MONDO:0016228 Orphanet:2122 Orphanet:211237 obsolete rare vascular tumor MONDO:0016236 kaposiform hemangioendothelioma MONDO:0019099 Orphanet:2122 Orphanet:71209 obsolete rare soft tissue tumor -MONDO:0016237 diffuse neonatal hemangiomatosis MONDO:0016228 Orphanet:2123 Orphanet:211237 obsolete rare vascular tumor MONDO:0016237 diffuse neonatal hemangiomatosis MONDO:8000032 Orphanet:2123 Orphanet:377789 obsolete malformation syndrome MONDO:0016240 hemimelia MONDO:0034667 Orphanet:2130 Orphanet:498457 obsolete longitudinal limb defect MONDO:0016242 hemoglobin C disease MONDO:0034039 Orphanet:2132 Orphanet:466066 obsolete genetic hemoglobinopathy @@ -8111,8 +8045,7 @@ MONDO:0016454 Charcot-Marie-Tooth disease type 2B5 MONDO:0019601 Orphanet:228374 MONDO:0016455 virus-associated trichodysplasia spinulosa MONDO:0015576 Orphanet:228379 Orphanet:163585 obsolete rare viral disease MONDO:0016455 virus-associated trichodysplasia spinulosa MONDO:0019546 Orphanet:228379 Orphanet:90077 obsolete other acquired skin disease MONDO:0016456 5q14.3 microdeletion syndrome MONDO:0015652 Orphanet:228384 Orphanet:166469 obsolete chromosomal anomaly with epilepsy as a major feature -MONDO:0016456 5q14.3 microdeletion syndrome MONDO:0035863 Orphanet:228384 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016456 5q14.3 microdeletion syndrome MONDO:8000032 Orphanet:228384 Orphanet:377789 obsolete malformation syndrome +MONDO:0016456 5q14.3 microdeletion syndrome MONDO:8000031 Orphanet:228384 Orphanet:557494 obsolete subtype of a disorder MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome MONDO:0020169 Orphanet:228396 Orphanet:98578 obsolete rare disorder with ptosis MONDO:0016457 ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome MONDO:8000032 Orphanet:228396 Orphanet:377789 obsolete malformation syndrome MONDO:0016458 8q12 microduplication syndrome MONDO:0020253 Orphanet:228399 Orphanet:98683 obsolete syndrome with a symptomatic strabismus @@ -8222,15 +8155,12 @@ MONDO:0016529 duplication of urethra MONDO:0019720 Orphanet:237 Orphanet:93546 o MONDO:0016529 duplication of urethra MONDO:8000030 Orphanet:237 Orphanet:377791 obsolete morphological anomaly MONDO:0016530 laryngocele MONDO:0015504 Orphanet:2372 Orphanet:156249 obsolete larynx anomaly MONDO:0016530 laryngocele MONDO:8000032 Orphanet:2372 Orphanet:377789 obsolete malformation syndrome -MONDO:0016531 digestive duplication MONDO:0015211 Orphanet:238 Orphanet:108967 obsolete non-syndromic intestinal malformation -MONDO:0016531 digestive duplication MONDO:8000030 Orphanet:238 Orphanet:377791 obsolete morphological anomaly MONDO:0016532 Lennox-Gastaut syndrome MONDO:0035862 Orphanet:2382 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0016533 apolipoprotein A-II amyloidosis MONDO:8000031 Orphanet:238269 Orphanet:557494 obsolete subtype of a disorder MONDO:0016535 hypohidrotic ectodermal dysplasia MONDO:0020014 Orphanet:238468 Orphanet:98027 obsolete rare disease with odontological manifestation MONDO:0016535 hypohidrotic ectodermal dysplasia MONDO:0020194 Orphanet:238468 Orphanet:98604 obsolete congenital alacrima MONDO:0016536 obsolete autosomal recessive lymphoproliferative disease MONDO:0000001 Orphanet:238505 Orphanet:377788 disease -MONDO:0016536 obsolete autosomal recessive lymphoproliferative disease MONDO:0016537 Orphanet:238505 Orphanet:238510 lymphoproliferative syndrome -MONDO:0016537 lymphoproliferative syndrome MONDO:0015710 Orphanet:238510 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency +MONDO:0016536 obsolete autosomal recessive lymphoproliferative disease MONDO:0018814 Orphanet:238505 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome MONDO:0015940 Orphanet:238569 Orphanet:182231 obsolete rare rheumatologic disease MONDO:0016542 immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome MONDO:0033967 Orphanet:238569 Orphanet:529974 obsolete immune dysregulation with inflammatory bowel disease MONDO:0016543 hyperphenylalaninemia due to tetrahydrobiopterin deficiency MONDO:0017756 Orphanet:238583 Orphanet:309819 obsolete disorder of pterin metabolism @@ -8254,6 +8184,7 @@ MONDO:0016561 1q44 microdeletion syndrome MONDO:8000032 Orphanet:238769 Orphanet MONDO:0016565 obsolete syndromic genetic obesity MONDO:0015330 Orphanet:240371 Orphanet:139024 obsolete overgrowth/obesity syndrome MONDO:0016565 obsolete syndromic genetic obesity MONDO:0019182 Orphanet:240371 Orphanet:77828 inherited obesity MONDO:0016567 locked-in syndrome MONDO:0020009 Orphanet:2406 Orphanet:98006 obsolete rare neurologic disease +MONDO:0016567 locked-in syndrome MONDO:0032013 Orphanet:2406 Orphanet:377792 obsolete clinical syndrome MONDO:0016568 Lowe-Kohn-Cohen syndrome MONDO:0015246 Orphanet:2408 Orphanet:117573 obsolete syndromic anorectal malformation MONDO:0016568 Lowe-Kohn-Cohen syndrome MONDO:0019589 Orphanet:2408 Orphanet:90642 obsolete syndromic genetic hearing loss MONDO:0016568 Lowe-Kohn-Cohen syndrome MONDO:8000032 Orphanet:2408 Orphanet:377789 obsolete malformation syndrome @@ -8626,7 +8557,6 @@ MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma MONDO:800003 MONDO:0016979 MRCS syndrome MONDO:0020225 Orphanet:263347 Orphanet:98641 obsolete syndromic cataract MONDO:0016979 MRCS syndrome MONDO:0020240 Orphanet:263347 Orphanet:98661 obsolete syndromic retinitis pigmentosa MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome MONDO:0035862 Orphanet:263410 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0016982 angiosarcoma MONDO:0016228 Orphanet:263413 Orphanet:211237 obsolete rare vascular tumor MONDO:0016984 nevus of Ota MONDO:0017414 Orphanet:263425 Orphanet:294057 obsolete rare nevus MONDO:0016985 nevus of Ito MONDO:0017414 Orphanet:263432 Orphanet:294057 obsolete rare nevus MONDO:0016986 congenital smooth muscle hamartoma MONDO:0019300 Orphanet:263435 Orphanet:79386 obsolete rare skin tumor or hamartoma @@ -8672,9 +8602,6 @@ MONDO:0017038 obsolete secondary interstitial lung disease in childhood and adul MONDO:0017039 drug or radiation exposure-related interstitial lung disease MONDO:0017040 Orphanet:264978 Orphanet:264984 obsolete exposure-related interstitial lung disease MONDO:0017039 drug or radiation exposure-related interstitial lung disease MONDO:0032014 Orphanet:264978 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome MONDO:0017040 obsolete exposure-related interstitial lung disease MONDO:0017034 Orphanet:264984 Orphanet:264944 obsolete secondary interstitial lung disease in childhood and adulthood -MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome MONDO:0019589 Orphanet:2653 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome MONDO:0020240 Orphanet:2653 Orphanet:98661 obsolete syndromic retinitis pigmentosa -MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome MONDO:8000032 Orphanet:2653 Orphanet:377789 obsolete malformation syndrome MONDO:0017042 thanatophoric dysplasia MONDO:0018232 Orphanet:2655 Orphanet:364536 obsolete primary bone dysplasia with micromelia MONDO:0017043 congenital mesoblastic nephroma MONDO:0019749 Orphanet:2665 Orphanet:93619 obsolete rare renal tumor MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome MONDO:0022409 Orphanet:2666 Orphanet:156162 obsolete nephropathy-associated ciliopathy @@ -9135,10 +9062,6 @@ MONDO:0017544 zygodactyly type 3 MONDO:8000031 Orphanet:295191 Orphanet:557494 o MONDO:0017545 zygodactyly type 4 MONDO:8000031 Orphanet:295193 Orphanet:557494 obsolete subtype of a disorder MONDO:0017546 congenital vertical talus, unilateral MONDO:8000031 Orphanet:295201 Orphanet:557494 obsolete subtype of a disorder MONDO:0017547 congenital vertical talus, bilateral MONDO:8000031 Orphanet:295203 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017552 humero-ulnar synostosis, unilateral MONDO:8000031 Orphanet:295213 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017553 humero-ulnar synostosis, bilateral MONDO:8000031 Orphanet:295215 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017554 radio-ulnar synostosis, unilateral MONDO:8000031 Orphanet:295217 Orphanet:557494 obsolete subtype of a disorder -MONDO:0017555 radio-ulnar synostosis, bilateral MONDO:8000031 Orphanet:295219 Orphanet:557494 obsolete subtype of a disorder MONDO:0017558 congenital elbow dislocation, unilateral MONDO:8000031 Orphanet:295225 Orphanet:557494 obsolete subtype of a disorder MONDO:0017559 congenital elbow dislocation, bilateral MONDO:8000031 Orphanet:295227 Orphanet:557494 obsolete subtype of a disorder MONDO:0017560 congenital genu recurvatum MONDO:8000031 Orphanet:295229 Orphanet:557494 obsolete subtype of a disorder @@ -9507,7 +9430,7 @@ MONDO:0017923 multiple synostoses syndrome MONDO:8000032 Orphanet:3237 Orphanet: MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome MONDO:0017828 Orphanet:3240 Orphanet:314822 obsolete primary renal tubular acidosis MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome MONDO:0019589 Orphanet:3240 Orphanet:90642 obsolete syndromic genetic hearing loss MONDO:0017924 central nervous system calcification-deafness-tubular acidosis-anemia syndrome MONDO:0035862 Orphanet:3240 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis MONDO:0018033 Orphanet:324294 Orphanet:331193 obsolete other immunodeficiency syndromes due to defects in innate immunity +MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis MONDO:0015979 Orphanet:324294 Orphanet:183710 obsolete hereditary predisposition to infections MONDO:0017926 multiple paragangliomas associated with polycythemia MONDO:0015971 Orphanet:324299 Orphanet:183637 obsolete rare genetic adrenal disease MONDO:0017926 multiple paragangliomas associated with polycythemia MONDO:0025511 Orphanet:324299 Orphanet:271847 obsolete inherited neuroendocrine tumor MONDO:0017926 multiple paragangliomas associated with polycythemia MONDO:0027929 Orphanet:324299 Orphanet:250165 obsolete genetic polycythemia @@ -9602,14 +9525,12 @@ MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration MONDO:0018118 MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration MONDO:0018609 Orphanet:329308 Orphanet:441434 obsolete syndromic hereditary optic neuropathy MONDO:0018000 hereditary thrombocytosis with transverse limb defect MONDO:0016636 Orphanet:329319 Orphanet:248401 obsolete thrombotic disorder due to a constitutional platelet anomaly MONDO:0018000 hereditary thrombocytosis with transverse limb defect MONDO:0017432 Orphanet:329319 Orphanet:294955 obsolete syndrome with limb reduction defects +MONDO:0018001 inverse Klippel-Trenaunay syndrome MONDO:0016235 Orphanet:329324 Orphanet:211277 obsolete complex vascular malformation with associated anomalies MONDO:0018001 inverse Klippel-Trenaunay syndrome MONDO:0016524 Orphanet:329324 Orphanet:235832 obsolete congenital vascular bone syndrome -MONDO:0018001 inverse Klippel-Trenaunay syndrome MONDO:0018718 Orphanet:329324 Orphanet:458827 obsolete vascular tumor with associated anomalies MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy MONDO:0016792 Orphanet:329336 Orphanet:254767 obsolete mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy MONDO:0019058 Orphanet:329336 Orphanet:68385 obsolete neurometabolic disease MONDO:0018002 adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy MONDO:0019589 Orphanet:329336 Orphanet:90642 obsolete syndromic genetic hearing loss MONDO:0018004 acute megakaryoblastic leukemia without down syndrome MONDO:8000031 Orphanet:329469 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome MONDO:0800084 Orphanet:329475 Orphanet:93444 obsolete primary bone dysplasia with increased bone density -MONDO:0018005 spastic paraplegia-Paget disease of bone syndrome MONDO:0800089 Orphanet:329475 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components MONDO:0018007 mosaic genome-wide paternal uniparental disomy MONDO:0020055 Orphanet:329813 Orphanet:98152 obsolete autosomal uniparental disomy MONDO:0018007 mosaic genome-wide paternal uniparental disomy MONDO:8000032 Orphanet:329813 Orphanet:377789 obsolete malformation syndrome MONDO:0018009 non-hypoproteinemic hypertrophic gastropathy MONDO:0015111 Orphanet:329883 Orphanet:101936 obsolete gastroesophageal disease @@ -9729,7 +9650,6 @@ MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome MONDO:0800094 O MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome MONDO:8000032 Orphanet:3433 Orphanet:377789 obsolete malformation syndrome MONDO:0018092 Vogt-Koyanagi-Harada disease MONDO:0015916 Orphanet:3437 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease MONDO:0018092 Vogt-Koyanagi-Harada disease MONDO:0020225 Orphanet:3437 Orphanet:98641 obsolete syndromic cataract -MONDO:0018093 arbovirus fever MONDO:0015576 Orphanet:344 Orphanet:163585 obsolete rare viral disease MONDO:0018094 Waardenburg syndrome MONDO:0015331 Orphanet:3440 Orphanet:139027 obsolete malformation syndrome with skin/mucosae involvement MONDO:0018094 Waardenburg syndrome MONDO:0019589 Orphanet:3440 Orphanet:90642 obsolete syndromic genetic hearing loss MONDO:0018094 Waardenburg syndrome MONDO:0043008 Orphanet:3440 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -9893,7 +9813,6 @@ MONDO:0018235 obsolete dysostosis with limb anomaly as a major feature MONDO:001 MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature MONDO:0018235 Orphanet:364571 Orphanet:364568 obsolete dysostosis with limb anomaly as a major feature MONDO:0018236 obsolete dysostosis with limb and face anomalies as a major feature MONDO:0018455 Orphanet:364571 Orphanet:404571 obsolete dysostosis of genetic origin with limb anomaly as a major feature MONDO:0018237 acrofacial dysostosis MONDO:0018236 Orphanet:364574 Orphanet:364571 obsolete dysostosis with limb and face anomalies as a major feature -MONDO:0018239 obsolete aggrecan-related bone disorder MONDO:0031799 Orphanet:364817 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect MONDO:0018240 TRPV4-related bone disorder MONDO:0031799 Orphanet:364820 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect MONDO:0018241 obsolete primary short bowel syndrome MONDO:0015183 Orphanet:365563 Orphanet:104008 short bowel syndrome MONDO:0018241 obsolete primary short bowel syndrome MONDO:0015616 Orphanet:365563 Orphanet:165655 obsolete rare genetic intestinal disease @@ -10251,7 +10170,6 @@ MONDO:0018564 3p25.3 microdeletion syndrome MONDO:0035862 Orphanet:435638 Orphan MONDO:0018564 3p25.3 microdeletion syndrome MONDO:8000032 Orphanet:435638 Orphanet:377789 obsolete malformation syndrome MONDO:0018565 congenital urachal anomaly MONDO:0015934 Orphanet:435743 Orphanet:182124 obsolete non-syndromic urogenital tract malformation of male and female MONDO:0018565 congenital urachal anomaly MONDO:0019720 Orphanet:435743 Orphanet:93546 obsolete non-syndromic renal or urinary tract malformation -MONDO:0018566 short stature-advanced bone age-early-onset osteoarthritis syndrome MONDO:0018239 Orphanet:435804 Orphanet:364817 obsolete aggrecan-related bone disorder MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome MONDO:0035863 Orphanet:435938 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018569 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome MONDO:8000032 Orphanet:435938 Orphanet:377789 obsolete malformation syndrome MONDO:0018570 hypophosphatasia MONDO:0019705 Orphanet:436 Orphanet:93447 obsolete primary bone dysplasia with defective bone mineralization @@ -10442,13 +10360,8 @@ MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmo MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome MONDO:0026187 Orphanet:457365 Orphanet:183570 obsolete genetic malformation syndrome with short stature MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome MONDO:0035863 Orphanet:457365 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome MONDO:8000032 Orphanet:457365 Orphanet:377789 obsolete malformation syndrome -MONDO:0018712 composite hemangioendothelioma MONDO:0016228 Orphanet:458758 Orphanet:211237 obsolete rare vascular tumor -MONDO:0018713 retiform hemangioendothelioma MONDO:0016228 Orphanet:458763 Orphanet:211237 obsolete rare vascular tumor -MONDO:0018714 primary intralymphatic angioendothelioma MONDO:0016228 Orphanet:458768 Orphanet:211237 obsolete rare vascular tumor -MONDO:0018715 congenital hemangioma MONDO:0016228 Orphanet:458775 Orphanet:211237 obsolete rare vascular tumor MONDO:0018717 mixed cystic lymphatic malformation MONDO:0018720 Orphanet:458792 Orphanet:458833 obsolete common cystic lymphatic malformation MONDO:0018717 mixed cystic lymphatic malformation MONDO:8000032 Orphanet:458792 Orphanet:377789 obsolete malformation syndrome -MONDO:0018718 obsolete vascular tumor with associated anomalies MONDO:0016228 Orphanet:458827 Orphanet:211237 obsolete rare vascular tumor MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies MONDO:0016231 Orphanet:458830 Orphanet:211247 capillary malformation MONDO:0018719 obsolete obsolete rare capillary malformation with associated anomalies MONDO:0018728 Orphanet:458830 Orphanet:459526 obsolete rare genetic capillary malformation MONDO:0018720 obsolete common cystic lymphatic malformation MONDO:0002013 Orphanet:458833 Orphanet:2415 lymphangioma @@ -10467,9 +10380,7 @@ MONDO:0018729 obsolete genetic vascular tumor MONDO:0016229 Orphanet:459543 Orph MONDO:0018730 obsolete rare genetic venous malformation MONDO:0016229 Orphanet:459548 Orphanet:211240 obsolete hereditary vascular anomaly MONDO:0018731 obsolete lethal multiple congenital anomalies/dysmorphic syndrome MONDO:0019042 Orphanet:459787 Orphanet:68341 multiple congenital anomalies/dysmorphic syndrome MONDO:0018733 intellectual disability syndrome due to a DYRK1A point mutation MONDO:8000031 Orphanet:464311 Orphanet:557494 obsolete subtype of a disorder -MONDO:0018734 verrucous hemangioma MONDO:0016228 Orphanet:464318 Orphanet:211237 obsolete rare vascular tumor MONDO:0018735 multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome MONDO:0016631 Orphanet:464321 Orphanet:248347 obsolete hemorrhagic disorder due to an acquired platelet anomaly -MONDO:0018736 kaposiform lymphangiomatosis MONDO:0016228 Orphanet:464329 Orphanet:211237 obsolete rare vascular tumor MONDO:0018737 catastrophic antiphospholipid syndrome MONDO:0015939 Orphanet:464343 Orphanet:182228 obsolete systemic autoimmune disease MONDO:0018737 catastrophic antiphospholipid syndrome MONDO:0016634 Orphanet:464343 Orphanet:248365 obsolete thrombotic disorder due to an acquired coagulation factors defect MONDO:0018738 benign metanephric tumor MONDO:0019749 Orphanet:464359 Orphanet:93619 obsolete rare renal tumor @@ -10635,7 +10546,6 @@ MONDO:0018860 microlissencephaly-micromelia syndrome MONDO:8000032 Orphanet:5081 MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies MONDO:0016799 Orphanet:50812 Orphanet:254822 obsolete mitochondrial oxidative phosphorylation disorder with no known mechanism MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies MONDO:0035862 Orphanet:50812 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0018865 striate palmoplantar keratoderma MONDO:0017673 Orphanet:50942 Orphanet:307846 obsolete isolated focal palmoplantar keratoderma -MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0015710 Orphanet:51 Orphanet:169361 obsolete immune dysregulation disease with immunodeficiency MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0018792 Orphanet:51 Orphanet:477771 obsolete Moyamoya syndrome MONDO:0018866 Aicardi-Goutieres syndrome MONDO:0035862 Orphanet:51 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0018868 metachromatic leukodystrophy MONDO:0016133 Orphanet:512 Orphanet:207018 obsolete rare hereditary metabolic disease with peripheral neuropathy @@ -10840,7 +10750,6 @@ MONDO:0018998 Leber congenital amaurosis MONDO:0022400 Orphanet:65 Orphanet:1561 MONDO:0018998 Leber congenital amaurosis MONDO:0035862 Orphanet:65 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0018999 LCAT deficiency MONDO:0019743 Orphanet:650 Orphanet:93593 obsolete nephropathy secondary to a storage or other metabolic disease MONDO:0018999 LCAT deficiency MONDO:0020215 Orphanet:650 Orphanet:98628 obsolete syndromic corneal dystrophy -MONDO:0019000 perineural cyst MONDO:0020009 Orphanet:65250 Orphanet:98006 obsolete rare neurologic disease MONDO:0019002 Lhermitte-Duclos disease MONDO:0017118 Orphanet:65285 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature MONDO:0019003 multiple endocrine neoplasia type 2 MONDO:0018538 Orphanet:653 Orphanet:425003 obsolete inherited digestive cancer-predisposing syndrome MONDO:0019004 kidney Wilms tumor MONDO:0015963 Orphanet:654 Orphanet:183595 obsolete inherited renal tumor @@ -10849,6 +10758,7 @@ MONDO:0019005 nephronophthisis MONDO:0022405 Orphanet:655 Orphanet:156180 obsole MONDO:0019005 nephronophthisis MONDO:0022409 Orphanet:655 Orphanet:156162 obsolete nephropathy-associated ciliopathy MONDO:0019007 vaginal atresia MONDO:0015847 Orphanet:65681 Orphanet:180151 obsolete rare vaginal malformation MONDO:0019007 vaginal atresia MONDO:8000030 Orphanet:65681 Orphanet:377791 obsolete morphological anomaly +MONDO:0019010 congenital isolated hyperinsulinism MONDO:0019602 Orphanet:657 Orphanet:91088 obsolete other inborn metabolic disease MONDO:0019011 Charcot-Marie-Tooth disease type 1 MONDO:0015359 Orphanet:65753 Orphanet:140453 obsolete autosomal dominant hereditary demyelinating motor and sensory neuropathy MONDO:0019012 Carpenter syndrome MONDO:0016565 Orphanet:65759 Orphanet:240371 obsolete syndromic genetic obesity MONDO:0019012 Carpenter syndrome MONDO:0035863 Orphanet:65759 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -10931,7 +10841,6 @@ MONDO:0019091 bronchopulmonary dysplasia MONDO:8000032 Orphanet:70589 Orphanet:3 MONDO:0019092 infantile apnea MONDO:0015118 Orphanet:70590 Orphanet:101944 obsolete rare pulmonary disease MONDO:0019093 immunodeficiency due to selective anti-polysaccharide antibody deficiency MONDO:0015711 Orphanet:70593 Orphanet:169443 obsolete specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells MONDO:0019094 congenital Epstein-Barr virus infection MONDO:0015576 Orphanet:70596 Orphanet:163585 obsolete rare viral disease -MONDO:0019095 plague MONDO:0015575 Orphanet:707 Orphanet:163582 obsolete rare bacterial infectious disease MONDO:0019096 obsolete rare pulmonary hypertension MONDO:0020000 Orphanet:71198 Orphanet:97955 obsolete rare respiratory disease MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly MONDO:0016629 Orphanet:71202 Orphanet:248326 obsolete hemorrhagic disorder due to a platelet anomaly MONDO:0019097 obsolete hemorrhagic disorder due to a constitutional platelet anomaly MONDO:0021181 Orphanet:71202 Orphanet:183654 inherited blood coagulation disorder @@ -10939,7 +10848,6 @@ MONDO:0019098 autoimmune thrombocytopenia MONDO:0016631 Orphanet:71203 Orphanet: MONDO:0019099 obsolete rare soft tissue tumor MONDO:0020031 Orphanet:71209 Orphanet:98057 obsolete rare tumor MONDO:0019100 neuromyelitis optica MONDO:0016428 Orphanet:71211 Orphanet:228145 obsolete multiple sclerosis variant MONDO:0019101 retinal capillary malformation MONDO:0015145 Orphanet:71213 Orphanet:102006 obsolete neurovascular malformation -MONDO:0019101 retinal capillary malformation MONDO:0016228 Orphanet:71213 Orphanet:211237 obsolete rare vascular tumor MONDO:0019101 retinal capillary malformation MONDO:0018729 Orphanet:71213 Orphanet:459543 obsolete genetic vascular tumor MONDO:0019101 retinal capillary malformation MONDO:0031949 Orphanet:71213 Orphanet:371436 obsolete genetic neurovascular malformation MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome MONDO:0015877 Orphanet:71267 Orphanet:180766 obsolete malformative syndrome with dentinogenesis imperfecta @@ -11116,10 +11024,7 @@ MONDO:0019252 obsolete other metabolic disease with skin involvement MONDO:00193 MONDO:0019253 metabolic disease involving other neurotransmitter deficiency MONDO:0016404 Orphanet:79219 Orphanet:225707 obsolete metabolic neurotransmission anomaly with epilepsy MONDO:0019258 mild phenylketonuria MONDO:8000031 Orphanet:79253 Orphanet:557494 obsolete subtype of a disorder MONDO:0019259 classic phenylketonuria MONDO:8000031 Orphanet:79254 Orphanet:557494 obsolete subtype of a disorder -MONDO:0019260 adult neuronal ceroid lipofuscinosis MONDO:0034953 Orphanet:79262 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0019261 infantile neuronal ceroid lipofuscinosis MONDO:0034953 Orphanet:79263 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis MONDO:0034953 Orphanet:79264 Orphanet:519325 obsolete syndromic inherited retinal disorder -MONDO:0019263 autosomal erythropoietic protoporphyria MONDO:0015115 Orphanet:79278 Orphanet:101940 obsolete rare genetic metabolic liver disease +MONDO:0019263 autosomal erythropoietic protoporphyria MONDO:0020104 Orphanet:79278 Orphanet:98369 obsolete rare constitutional hemolytic anemia due to an enzyme disorder MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 MONDO:0020228 Orphanet:79281 Orphanet:98644 obsolete cataract associated with a metabolic disease MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 MONDO:0020253 Orphanet:79281 Orphanet:98683 obsolete syndrome with a symptomatic strabismus MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 MONDO:8000031 Orphanet:79281 Orphanet:557494 obsolete subtype of a disorder @@ -11262,7 +11167,6 @@ MONDO:0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome MO MONDO:0019387 macrostomia-preauricular tags-external ophthalmoplegia syndrome MONDO:8000032 Orphanet:83619 Orphanet:377789 obsolete malformation syndrome MONDO:0019388 pelvis syndrome MONDO:0015246 Orphanet:83628 Orphanet:117573 obsolete syndromic anorectal malformation MONDO:0019388 pelvis syndrome MONDO:0017120 Orphanet:83628 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature -MONDO:0019388 pelvis syndrome MONDO:0018718 Orphanet:83628 Orphanet:458827 obsolete vascular tumor with associated anomalies MONDO:0019388 pelvis syndrome MONDO:0019299 Orphanet:83628 Orphanet:79385 obsolete unclassified genetic skin disorder MONDO:0019388 pelvis syndrome MONDO:0043008 Orphanet:83628 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0019388 pelvis syndrome MONDO:8000032 Orphanet:83628 Orphanet:377789 obsolete malformation syndrome @@ -11297,8 +11201,6 @@ MONDO:0019409 idiopathic juvenile osteoporosis MONDO:8000032 Orphanet:85193 Orph MONDO:0019411 genochondromatosis type 1 MONDO:0800089 Orphanet:85197 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components MONDO:0019412 dysspondyloenchondromatosis MONDO:0800089 Orphanet:85198 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components MONDO:0019412 dysspondyloenchondromatosis MONDO:8000032 Orphanet:85198 Orphanet:377789 obsolete malformation syndrome -MONDO:0019413 ischio-vertebral syndrome MONDO:0019711 Orphanet:85200 Orphanet:93454 obsolete dysostosis with predominant vertebral and costal involvement -MONDO:0019413 ischio-vertebral syndrome MONDO:8000032 Orphanet:85200 Orphanet:377789 obsolete malformation syndrome MONDO:0019414 BRESEK syndrome MONDO:0035863 Orphanet:85284 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019414 BRESEK syndrome MONDO:8000032 Orphanet:85284 Orphanet:377789 obsolete malformation syndrome MONDO:0019415 fetal and neonatal alloimmune thrombocytopenia MONDO:0016631 Orphanet:853 Orphanet:248347 obsolete hemorrhagic disorder due to an acquired platelet anomaly @@ -11330,6 +11232,7 @@ MONDO:0019433 oligoarticular juvenile idiopathic arthritis MONDO:0017259 Orphane MONDO:0019437 enthesitis-related juvenile idiopathic arthritis MONDO:0017259 Orphanet:85438 Orphanet:280926 obsolete systemic diseases with anterior uveitis MONDO:0019438 AL amyloidosis MONDO:0016179 Orphanet:85443 Orphanet:209013 obsolete acquired amyloid peripheral neuropathy MONDO:0019439 AA amyloidosis MONDO:0016179 Orphanet:85445 Orphanet:209013 obsolete acquired amyloid peripheral neuropathy +MONDO:0019441 ATTRV122I amyloidosis MONDO:8000031 Orphanet:85451 Orphanet:557494 obsolete subtype of a disorder MONDO:0019443 dextro-looped transposition of the great arteries MONDO:0017131 Orphanet:860 Orphanet:271853 obsolete hereditary cardiac anomaly MONDO:0019443 dextro-looped transposition of the great arteries MONDO:8000030 Orphanet:860 Orphanet:377791 obsolete morphological anomaly MONDO:0019444 trichinellosis MONDO:0015577 Orphanet:863 Orphanet:163588 obsolete rare parasitic disease @@ -11549,7 +11452,6 @@ MONDO:0019682 congenital sialidosis type 2 MONDO:8000031 Orphanet:93400 Orphanet MONDO:0019684 obsolete rare bone disease MONDO:8000033 Orphanet:93419 Orphanet:557492 obsolete group of disorders MONDO:0019685 FGFR3-related chondrodysplasia MONDO:0031799 Orphanet:93420 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect MONDO:0019688 obsolete sulfation-related bone disorder MONDO:0031799 Orphanet:93423 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect -MONDO:0019689 obsolete perlecan-related bone disorder MONDO:0031799 Orphanet:93424 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect MONDO:0019690 filamin-related bone disorder MONDO:0031799 Orphanet:93425 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect MONDO:0019691 short rib dysplasia MONDO:0031799 Orphanet:93426 Orphanet:364803 obsolete rare bone disease related to a common gene or pathway defect MONDO:0019692 obsolete multiple epiphyseal dysplasia and pseudoachondroplasia MONDO:0018230 Orphanet:93429 Orphanet:364526 skeletal dysplasia @@ -11591,7 +11493,6 @@ MONDO:0019731 AApoAI amyloidosis MONDO:8000031 Orphanet:93560 Orphanet:557494 ob MONDO:0019732 ALys amyloidosis MONDO:8000031 Orphanet:93561 Orphanet:557494 obsolete subtype of a disorder MONDO:0019733 AFib amyloidosis MONDO:8000031 Orphanet:93562 Orphanet:557494 obsolete subtype of a disorder MONDO:0019734 juvenile polymyositis MONDO:0017021 Orphanet:93568 Orphanet:264704 obsolete secondary interstitial lung disease specific to childhood associated with a connective tissue disease -MONDO:0019735 polymyalgia rheumatica MONDO:0015940 Orphanet:93569 Orphanet:182231 obsolete rare rheumatologic disease MONDO:0019737 thrombotic microangiopathy MONDO:0019750 Orphanet:93573 Orphanet:93626 obsolete rare renal disease MONDO:0019739 atypical hemolytic-uremic syndrome with anti-factor H antibodies MONDO:8000031 Orphanet:93581 Orphanet:557494 obsolete subtype of a disorder MONDO:0019740 acquired thrombotic thrombocytopenic purpura MONDO:8000031 Orphanet:93585 Orphanet:557494 obsolete subtype of a disorder @@ -11641,10 +11542,8 @@ MONDO:0019787 autoimmune enteropathy MONDO:0015245 Orphanet:94075 Orphanet:11756 MONDO:0019790 neuroleptic malignant syndrome MONDO:0018753 Orphanet:94093 Orphanet:466658 obsolete rare disease with malignant hyperthermia MONDO:0019795 acalvaria MONDO:0020018 Orphanet:945 Orphanet:98038 obsolete cranial malformation MONDO:0019795 acalvaria MONDO:8000032 Orphanet:945 Orphanet:377789 obsolete malformation syndrome +MONDO:0019797 acrodysostosis MONDO:0035863 Orphanet:950 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019797 acrodysostosis MONDO:8000032 Orphanet:950 Orphanet:377789 obsolete malformation syndrome -MONDO:0019799 hepatoerythropoietic porphyria MONDO:0019800 Orphanet:95159 Orphanet:95161 obsolete chronic hepatic porphyria -MONDO:0019800 obsolete chronic hepatic porphyria MONDO:0015115 Orphanet:95161 Orphanet:101940 obsolete rare genetic metabolic liver disease -MONDO:0019800 obsolete chronic hepatic porphyria MONDO:0019142 Orphanet:95161 Orphanet:738 inherited porphyria MONDO:0019801 acute adrenal insufficiency MONDO:0032013 Orphanet:95409 Orphanet:377792 obsolete clinical syndrome MONDO:0019803 angioma serpiginosum MONDO:0015948 Orphanet:95429 Orphanet:183478 obsolete rare genetic skin vascular disorder MONDO:0019804 tracheomalacia MONDO:0015221 Orphanet:95430 Orphanet:108993 obsolete non-syndromic respiratory or mediastinal malformation @@ -12261,7 +12160,6 @@ MONDO:0020470 49,XYYYY syndrome MONDO:0017005 Orphanet:99330 Orphanet:263746 obs MONDO:0020470 49,XYYYY syndrome MONDO:0043008 Orphanet:99330 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0020470 49,XYYYY syndrome MONDO:8000032 Orphanet:99330 Orphanet:377789 obsolete malformation syndrome MONDO:0020472 Turner syndrome due to structural X chromosome anomalies MONDO:8000031 Orphanet:99413 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020474 cheirospondyloenchondromatosis MONDO:0800089 Orphanet:99647 Orphanet:93450 obsolete primary bone dysplasia with disorganized development of skeletal components MONDO:0020475 dermotrichic syndrome MONDO:8000032 Orphanet:99688 Orphanet:377789 obsolete malformation syndrome MONDO:0020478 Leber plus disease MONDO:0016327 Orphanet:99718 Orphanet:217587 obsolete mitochondrial disease with hypertrophic cardiomyopathy MONDO:0020478 Leber plus disease MONDO:0016335 Orphanet:99718 Orphanet:217613 obsolete mitochondrial disease with dilated cardiomyopathy @@ -12322,7 +12220,7 @@ MONDO:0020545 staphylococcal toxic-shock syndrome MONDO:8000031 Orphanet:99919 O MONDO:0020546 acute graft versus host disease MONDO:8000031 Orphanet:99920 Orphanet:557494 obsolete subtype of a disorder MONDO:0020547 chronic graft versus host disease MONDO:8000031 Orphanet:99921 Orphanet:557494 obsolete subtype of a disorder MONDO:0020553 secondary pulmonary hemosiderosis MONDO:0017034 Orphanet:99930 Orphanet:264944 obsolete secondary interstitial lung disease in childhood and adulthood -MONDO:0020554 Heiner syndrome MONDO:8000031 Orphanet:99932 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020554 Heiner syndrome MONDO:0017034 Orphanet:99932 Orphanet:264944 obsolete secondary interstitial lung disease in childhood and adulthood MONDO:0020555 pleuropulmonary blastoma type 1 MONDO:8000031 Orphanet:99933 Orphanet:557494 obsolete subtype of a disorder MONDO:0020556 pleuropulmonary blastoma type 2 MONDO:8000031 Orphanet:99934 Orphanet:557494 obsolete subtype of a disorder MONDO:0020557 pleuropulmonary blastoma type 3 MONDO:8000031 Orphanet:99935 Orphanet:557494 obsolete subtype of a disorder @@ -12410,7 +12308,7 @@ MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0020234 Orphanet:2109 Orphan MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0026187 Orphanet:2109 Orphanet:183570 obsolete genetic malformation syndrome with short stature MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:0035863 Orphanet:2109 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0022851 Dennis-Fairhurst-Moore syndrome MONDO:8000032 Orphanet:2109 Orphanet:377789 obsolete malformation syndrome -MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia MONDO:0017027 Orphanet:617916 Orphanet:264740 obsolete primary interstitial lung disease specific to adulthood +MONDO:0022986 diffuse idiopathic pulmonary neuroendocrine cell hyperplasia MONDO:0015119 Orphanet:617916 Orphanet:101945 obsolete bronchopulmonary tumor MONDO:0023122 familial prostate carcinoma MONDO:0015511 Orphanet:1331 Orphanet:156619 obsolete rare genetic urogenital disease MONDO:0023122 familial prostate carcinoma MONDO:0017130 Orphanet:1331 Orphanet:271844 obsolete genetic urogenital tumor MONDO:0023122 familial prostate carcinoma MONDO:0020032 Orphanet:1331 Orphanet:98058 obsolete rare urinary tract tumor @@ -12609,12 +12507,6 @@ MONDO:0032726 combined oxidative phosphorylation deficiency 39 MONDO:0018157 Orp MONDO:0032726 combined oxidative phosphorylation deficiency 39 MONDO:0019058 Orphanet:565624 Orphanet:68385 obsolete neurometabolic disease MONDO:0032726 combined oxidative phosphorylation deficiency 39 MONDO:0035862 Orphanet:565624 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0032737 spastic paraplegia 80, autosomal dominant MONDO:0015088 Orphanet:631068 Orphanet:100980 obsolete autosomal dominant pure spastic paraplegia -MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities MONDO:0015118 Orphanet:656273 Orphanet:101944 obsolete rare pulmonary disease -MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities MONDO:0015510 Orphanet:656273 Orphanet:156610 obsolete rare genetic respiratory disease -MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities MONDO:0018497 Orphanet:656273 Orphanet:423662 obsolete rare autonomic nervous system disorder -MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities MONDO:0018557 Orphanet:656273 Orphanet:434786 obsolete rare genetic autonomic nervous system disorder -MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities MONDO:0032013 Orphanet:656273 Orphanet:377792 obsolete clinical syndrome -MONDO:0032780 hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities MONDO:0035862 Orphanet:656273 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome MONDO:0032814 microangiopathy and leukoencephalopathy, pontine, autosomal dominant MONDO:0018789 Orphanet:477749 Orphanet:477762 obsolete COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency MONDO:0032830 snijders blok-fisher syndrome MONDO:0035863 Orphanet:656135 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0032831 pontocerebellar hypoplasia, type 13 MONDO:0035863 Orphanet:613267 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -12985,8 +12877,6 @@ MONDO:0035663 neuromyelitis optica spectrum disorder with anti-AQP4 antibodies M MONDO:0035664 neuromyelitis optica spectrum disorder with anti-MOG antibodies MONDO:8000031 Orphanet:592856 Orphanet:557494 obsolete subtype of a disorder MONDO:0035665 neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies MONDO:8000031 Orphanet:592869 Orphanet:557494 obsolete subtype of a disorder MONDO:0035666 acute transverse myelitis with anti-MOG antibodies MONDO:8000031 Orphanet:592873 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035667 isolated optic neuritis without anti-MOG antibodies MONDO:8000031 Orphanet:592885 Orphanet:557494 obsolete subtype of a disorder -MONDO:0035668 isolated optic neuritis with anti-MOG antibodies MONDO:8000031 Orphanet:592888 Orphanet:557494 obsolete subtype of a disorder MONDO:0035669 acute disseminated encephalomyelitis with anti-MOG antibodies MONDO:8000031 Orphanet:592894 Orphanet:557494 obsolete subtype of a disorder MONDO:0035670 acute disseminated encephalomyelitis without anti-MOG antibodies MONDO:8000031 Orphanet:592900 Orphanet:557494 obsolete subtype of a disorder MONDO:0035678 Timothy syndrome type 1 MONDO:8000031 Orphanet:595098 Orphanet:557494 obsolete subtype of a disorder @@ -13200,6 +13090,7 @@ MONDO:0044660 menstrual cycle-dependent periodic fever MONDO:0015860 Orphanet:49 MONDO:0044663 aquagenic palmoplantar keratoderma MONDO:0019274 Orphanet:498359 Orphanet:79359 obsolete other epidermal disorder MONDO:0044675 LRP5-related primary osteoporosis MONDO:0019704 Orphanet:498481 Orphanet:93446 obsolete primary bone dysplasia with decreased bone density MONDO:0044675 LRP5-related primary osteoporosis MONDO:8000032 Orphanet:498481 Orphanet:377789 obsolete malformation syndrome +MONDO:0044687 chronic relapsing inflammatory optic neuropathy MONDO:8000031 Orphanet:499085 Orphanet:557494 obsolete subtype of a disorder MONDO:0044688 isolated optic neuritis MONDO:0015916 Orphanet:499096 Orphanet:182064 obsolete rare neuroinflammatory or neuroimmunological disease MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome MONDO:0017120 Orphanet:500144 Orphanet:269531 obsolete other syndrome with a central nervous system malformation as major feature MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome MONDO:0019589 Orphanet:500144 Orphanet:90642 obsolete syndromic genetic hearing loss @@ -13379,7 +13270,6 @@ MONDO:0100367 port-wine nevi-mega cisterna magna-hydrocephalus syndrome MONDO:80 MONDO:0100429 intrahepatic cholestasis of pregnancy MONDO:0015115 Orphanet:69665 Orphanet:101940 obsolete rare genetic metabolic liver disease MONDO:0100429 intrahepatic cholestasis of pregnancy MONDO:0015582 Orphanet:69665 Orphanet:163637 obsolete rare disorder related with pregnancy, childbirth and puerperium MONDO:0100450 CAPN5-related vitreoretinopathy MONDO:0034943 Orphanet:329211 Orphanet:519304 obsolete isolated vitreoretinopathy -MONDO:0100462 short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans MONDO:0018239 Orphanet:251262 Orphanet:364817 obsolete aggrecan-related bone disorder MONDO:0100480 autoimmune primary adrenal insufficiency MONDO:0015130 Orphanet:85138 Orphanet:101963 obsolete acquired chronic primary adrenal insufficiency MONDO:0100491 generalized pustular psoriasis MONDO:0019274 Orphanet:247353 Orphanet:79359 obsolete other epidermal disorder MONDO:0100491 generalized pustular psoriasis MONDO:0019275 Orphanet:247353 Orphanet:79360 obsolete other genetic epidermal disease @@ -13388,6 +13278,7 @@ MONDO:0100512 mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:00 MONDO:0100527 dysplastic cortical hyperostosis, Kozlowski-Tsuruta type MONDO:8000031 Orphanet:2204 Orphanet:557494 obsolete subtype of a disorder MONDO:0100528 Hao-Fountain syndrome due to 16p13.2 microdeletion MONDO:8000031 Orphanet:500055 Orphanet:557494 obsolete subtype of a disorder MONDO:0100552 ATTRV30M amyloidosis MONDO:0016134 Orphanet:85447 Orphanet:207021 obsolete rare hereditary systemic disease with peripheral neuropathy +MONDO:0100552 ATTRV30M amyloidosis MONDO:8000031 Orphanet:85447 Orphanet:557494 obsolete subtype of a disorder MONDO:0700220 disease related to transplantation MONDO:0032014 Orphanet:306644 Orphanet:377793 obsolete particular clinical situation in a disease or syndrome MONDO:0700220 disease related to transplantation MONDO:0035426 Orphanet:306644 Orphanet:565779 obsolete rare disorder potentially indicated for transplant or complication after transplantation MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0043008 Orphanet:1519 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -13407,7 +13298,6 @@ MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0019602 Orphanet:40 MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0020194 Orphanet:404454 Orphanet:98604 obsolete congenital alacrima MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0029102 Orphanet:404454 Orphanet:281244 obsolete autosomal ichthyosis syndrome with other associated signs MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0035862 Orphanet:404454 Orphanet:611314 obsolete rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome -MONDO:0800045 autoinflammatory syndrome, familial, Behcet-like 1 MONDO:0017957 Orphanet:476102 Orphanet:324936 obsolete unclassified autoinflammatory syndrome MONDO:0800046 thyroid hormone metabolism, abnormal 1 MONDO:0035689 Orphanet:171706 Orphanet:596426 obsolete syndrome of reduced sensitivity to thyroid hormone MONDO:0800084 obsolete primary bone dysplasia with increased bone density MONDO:0018230 Orphanet:93444 Orphanet:364526 skeletal dysplasia MONDO:0800085 obsolete dysostosis with predominant craniofacial involvement MONDO:0018234 Orphanet:93453 Orphanet:364559 dysostosis @@ -13448,7 +13338,6 @@ MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0019300 Orphanet:122 Orphanet:7938 MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:8000032 Orphanet:122 Orphanet:377789 obsolete malformation syndrome MONDO:0800446 bleeding diathesis due to thromboxane synthesis deficiency MONDO:0018796 Orphanet:220443 Orphanet:477797 obsolete isolated constitutional thrombocytopenia MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 MONDO:0018796 Orphanet:3319 Orphanet:477797 obsolete isolated constitutional thrombocytopenia -MONDO:0850001 congenital neuronal ceroid lipofuscinosis MONDO:0034953 Orphanet:168486 Orphanet:519325 obsolete syndromic inherited retinal disorder MONDO:0850007 syndromic lacrimal system disorder MONDO:0020195 Orphanet:519274 Orphanet:98605 obsolete excretory apparatus of the lacrimal system anomaly MONDO:0850009 syndromic microspherophakia MONDO:0020235 Orphanet:519294 Orphanet:98652 obsolete lens size anomaly MONDO:0850010 congenital optic disk excavation MONDO:0020145 Orphanet:519333 Orphanet:98553 obsolete developmental defect of the eye @@ -13604,6 +13493,7 @@ MONDO:0958120 autosomal dominant combined immunodeficiency due to ERBIN deficien MONDO:0958123 isolated pulmonary artery sling MONDO:8000030 Orphanet:658574 Orphanet:377791 obsolete morphological anomaly MONDO:0958130 Greig cephalopolysyndactyly-contiguous gene syndrome MONDO:0017434 Orphanet:658805 Orphanet:294959 obsolete syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy MONDO:0958130 Greig cephalopolysyndactyly-contiguous gene syndrome MONDO:0043008 Orphanet:658805 Orphanet:330206 obsolete genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0958130 Greig cephalopolysyndactyly-contiguous gene syndrome MONDO:8000032 Orphanet:658805 Orphanet:377789 obsolete malformation syndrome MONDO:0958137 early-onset autoimmune disorder due to DOCK11 partial deficiency MONDO:0015709 Orphanet:658946 Orphanet:169355 obsolete immunodeficiency syndrome with autoimmunity MONDO:0958137 early-onset autoimmune disorder due to DOCK11 partial deficiency MONDO:0017956 Orphanet:658946 Orphanet:324933 obsolete mixed autoinflammatory and autoimmune syndrome MONDO:0958137 early-onset autoimmune disorder due to DOCK11 partial deficiency MONDO:0019305 Orphanet:658946 Orphanet:79391 obsolete immune deficiency with skin involvement @@ -13643,8 +13533,7 @@ MONDO:0970961 fibroneural non-saccular limited dorsal myeloschisis MONDO:8000031 MONDO:0970962 terminal myelocystocele MONDO:8000030 Orphanet:645337 Orphanet:377791 obsolete morphological anomaly MONDO:0970963 saccular limited dorsal myeloschisis MONDO:8000030 Orphanet:645354 Orphanet:377791 obsolete morphological anomaly MONDO:0970964 myelic limited dorsal malformation MONDO:8000030 Orphanet:645378 Orphanet:377791 obsolete morphological anomaly -MONDO:8000006 WHIM syndrome 1 MONDO:0018032 Orphanet:51636 Orphanet:331184 obsolete constitutional neutropenia with extra-hematopoietic manifestations -MONDO:8000006 WHIM syndrome 1 MONDO:0018033 Orphanet:51636 Orphanet:331193 obsolete other immunodeficiency syndromes due to defects in innate immunity +MONDO:8000006 WHIM syndrome 1 MONDO:0015979 Orphanet:51636 Orphanet:183710 obsolete hereditary predisposition to infections MONDO:8000008 Martsolf syndrome 1 MONDO:0015890 Orphanet:1387 Orphanet:181387 obsolete rare disorder with congenital hypogonadotropic hypogonadism MONDO:8000008 Martsolf syndrome 1 MONDO:0020225 Orphanet:1387 Orphanet:98641 obsolete syndromic cataract MONDO:8000008 Martsolf syndrome 1 MONDO:0035863 Orphanet:1387 Orphanet:611327 obsolete genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability diff --git a/src/ontology/reports/ordo.subclass.added.robot.tsv b/src/ontology/reports/ordo.subclass.added.robot.tsv index 37976f27..469c65fb 100644 --- a/src/ontology/reports/ordo.subclass.added.robot.tsv +++ b/src/ontology/reports/ordo.subclass.added.robot.tsv @@ -21,7 +21,6 @@ MONDO:0001595 choreatic disease MONDO:0015548 Orphanet:1429 Orphanet:158266 Hunt MONDO:0001734 tuberous sclerosis MONDO:0019294 Orphanet:805 Orphanet:79380 mixed dermis disorder MONDO:0001734 tuberous sclerosis MONDO:0019741 Orphanet:805 Orphanet:93587 familial cystic renal disease MONDO:0002474 primary hyperoxaluria MONDO:0017703 Orphanet:416 Orphanet:308998 disorder of glyoxylate metabolism -MONDO:0002520 hepatic porphyria MONDO:0019142 Orphanet:95157 Orphanet:738 inherited porphyria MONDO:0003795 ovarian small cell carcinoma MONDO:0018365 Orphanet:370396 Orphanet:398940 malignant non-epithelial tumor of ovary MONDO:0004672 fasciolopsiasis MONDO:0015675 Orphanet:658909 Orphanet:1685 distomatosis MONDO:0005035 ganglioneuroblastoma MONDO:0016713 Orphanet:251877 Orphanet:251870 central nervous system Ewing sarcoma/peripheral primitive neuroectodermal tumor @@ -30,7 +29,7 @@ MONDO:0005072 neuroblastoma MONDO:0016713 Orphanet:635 Orphanet:251870 central n MONDO:0005100 systemic sclerosis MONDO:0016345 Orphanet:90291 Orphanet:217720 non-familial restrictive cardiomyopathy MONDO:0005164 fibrosarcoma MONDO:0021054 Orphanet:2030 Orphanet:223727 bone sarcoma MONDO:0005272 myelodysplastic syndrome with single lineage dysplasia MONDO:0019453 Orphanet:98826 Orphanet:86836 myelodysplastic syndrome with multilineage dysplasia -MONDO:0005502 dengue disease MONDO:0018093 Orphanet:99828 Orphanet:344 arbovirus fever +MONDO:0005502 dengue disease MONDO:0018087 Orphanet:99828 Orphanet:341 viral hemorrhagic fever MONDO:0005705 clonorchiasis MONDO:0015675 Orphanet:658917 Orphanet:1685 distomatosis MONDO:0005764 follicular dendritic cell sarcoma MONDO:0018078 Orphanet:86902 Orphanet:3394 soft tissue sarcoma MONDO:0005797 HIV wasting syndrome MONDO:0017769 Orphanet:90081 Orphanet:310050 acquired immunodeficiency @@ -53,7 +52,6 @@ MONDO:0007100 familial amyloid neuropathy MONDO:0016340 Orphanet:271861 Orphanet MONDO:0007113 Angelman syndrome MONDO:0015159 Orphanet:72 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007119 isolated aniridia MONDO:0011119 Orphanet:250923 Orphanet:98634 iridogoniodysgenesis MONDO:0007123 ankyloblepharon filiforme adnatum-cleft palate syndrome MONDO:0007124 Orphanet:1072 Orphanet:1071 ankyloblepharon-ectodermal defects-cleft lip/palate syndrome -MONDO:0007142 Townes-Brocks syndrome MONDO:0015159 Orphanet:857 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007168 atelosteogenesis type III MONDO:0015159 Orphanet:56305 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007176 helicoid peripapillary chorioretinal degeneration MONDO:0957337 Orphanet:86813 Orphanet:519300 isolated chorioretinal dystrophy MONDO:0007230 Brachymorphism-onychodysplasia-dysphalangism syndrome MONDO:0015159 Orphanet:1292 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -111,14 +109,13 @@ MONDO:0008047 episodic ataxia type 1 MONDO:0015653 Orphanet:37612 Orphanet:16647 MONDO:0008050 MYH7-related skeletal myopathy MONDO:0016108 Orphanet:59135 Orphanet:206650 autosomal dominant distal myopathy MONDO:0008075 schwannomatosis MONDO:0859008 Orphanet:93921 Orphanet:634518 neurofibromatosis/schwannomatosis MONDO:0008082 multiple endocrine neoplasia type 2B MONDO:0021227 Orphanet:247709 Orphanet:100091 adrenal gland neoplasm +MONDO:0008083 ceroid lipofuscinosis, neuronal, 4 (Kufs type) MONDO:0020074 Orphanet:228343 Orphanet:98261 progressive myoclonus epilepsy MONDO:0008108 oculocerebrocutaneous syndrome MONDO:0015650 Orphanet:1647 Orphanet:166463 epilepsy syndrome MONDO:0008111 oculodentodigital dysplasia MONDO:0015159 Orphanet:2710 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0008137 orofaciodigital syndrome X MONDO:0015159 Orphanet:2756 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008138 syndromic orbital border hypoplasia MONDO:0850007 Orphanet:98606 Orphanet:519274 syndromic lacrimal system disorder MONDO:0008145 Ollier disease MONDO:0015356 Orphanet:296 Orphanet:140162 hereditary neoplastic syndrome MONDO:0008145 Ollier disease MONDO:0019716 Orphanet:296 Orphanet:93460 overgrowth syndrome MONDO:0008150 osteoglophonic dwarfism MONDO:0015338 Orphanet:2645 Orphanet:139393 syndromic craniosynostosis -MONDO:0008158 dacryocystitis-osteopoikilosis syndrome MONDO:0850007 Orphanet:1562 Orphanet:519274 syndromic lacrimal system disorder MONDO:0008163 otofaciocervical syndrome MONDO:0015159 Orphanet:2792 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008185 hereditary chronic pancreatitis MONDO:0015967 Orphanet:676 Orphanet:183625 monogenic diabetes MONDO:0008195 paramyotonia congenita of Von Eulenburg MONDO:0957111 Orphanet:684 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect @@ -169,7 +166,6 @@ MONDO:0008681 WAGR syndrome MONDO:0015159 Orphanet:893 Orphanet:102283 multiple MONDO:0008693 ablepharon macrostomia syndrome MONDO:0015159 Orphanet:920 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008694 pseudoprogeria syndrome MONDO:0015333 Orphanet:2985 Orphanet:139033 progeroid syndrome MONDO:0008708 acrocallosal syndrome MONDO:0015338 Orphanet:36 Orphanet:139393 syndromic craniosynostosis -MONDO:0008711 Goodman syndrome MONDO:0015161 Orphanet:65798 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008723 very long chain acyl-CoA dehydrogenase deficiency MONDO:0017714 Orphanet:26793 Orphanet:309120 acyl-CoA dehydrogenase deficiency MONDO:0008726 Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis MONDO:0018479 Orphanet:63269 Orphanet:418 congenital adrenal hyperplasia MONDO:0008730 congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency MONDO:0019852 Orphanet:90793 Orphanet:95710 inherited primary ovarian failure @@ -179,6 +175,8 @@ MONDO:0008763 Alstrom syndrome MONDO:0015962 Orphanet:64 Orphanet:183592 inherit MONDO:0008763 Alstrom syndrome MONDO:0015967 Orphanet:64 Orphanet:183625 monogenic diabetes MONDO:0008763 Alstrom syndrome MONDO:0022410 Orphanet:64 Orphanet:156165 retinal ciliopathy MONDO:0008766 amaurosis-hypertrichosis syndrome MONDO:0019280 Orphanet:1021 Orphanet:79365 hypertrichosis +MONDO:0008767 neuronal ceroid lipofuscinosis 3 MONDO:0020074 Orphanet:228346 Orphanet:98261 progressive myoclonus epilepsy +MONDO:0008769 neuronal ceroid lipofuscinosis 2 MONDO:0020074 Orphanet:228349 Orphanet:98261 progressive myoclonus epilepsy MONDO:0008799 anophthalmia/microphthalmia-esophageal atresia syndrome MONDO:0015159 Orphanet:77298 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008800 microphthalmia with limb anomalies MONDO:0015159 Orphanet:1106 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008800 microphthalmia with limb anomalies MONDO:0016073 Orphanet:1106 Orphanet:202948 syndromic microphthalmia @@ -199,7 +197,6 @@ MONDO:0008935 cerebellar ataxia-hypogonadism syndrome MONDO:0100309 Orphanet:117 MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome MONDO:0015159 Orphanet:2031 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome MONDO:0019741 Orphanet:2031 Orphanet:93587 familial cystic renal disease MONDO:0008959 CHAND syndrome MONDO:0019287 Orphanet:1401 Orphanet:79373 ectodermal dysplasia syndrome -MONDO:0008963 Chediak-Higashi syndrome MONDO:0015978 Orphanet:167 Orphanet:183681 functional neutrophil defect MONDO:0008965 CHARGE syndrome MONDO:0015159 Orphanet:138 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008975 otospondylomegaepiphyseal dysplasia MONDO:0022800 Orphanet:1427 Orphanet:93421 type 2 collagenopathy MONDO:0008977 chondrosarcoma MONDO:0021054 Orphanet:55880 Orphanet:223727 bone sarcoma @@ -285,7 +282,6 @@ MONDO:0009579 Frank-Ter Haar syndrome MONDO:0018233 Orphanet:137834 Orphanet:364 MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome MONDO:0015967 Orphanet:3044 Orphanet:183625 monogenic diabetes MONDO:0009582 Mietens syndrome MONDO:0015159 Orphanet:2557 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009585 encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0019222 Orphanet:1035 Orphanet:79173 inborn disorder of methionine cycle and sulfur amino acid metabolism -MONDO:0009592 metaphyseal acroscyphodysplasia MONDO:0015159 Orphanet:1240 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009598 metaphyseal chondrodysplasia-retinitis pigmentosa syndrome MONDO:0015159 Orphanet:166035 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009599 metaphyseal dysostosis-intellectual disability-conductive deafness syndrome MONDO:0015159 Orphanet:2502 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009619 microcephaly-micromelia syndrome MONDO:0035534 Orphanet:572768 Orphanet:572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum @@ -314,11 +310,12 @@ MONDO:0009727 atelosteogenesis type II MONDO:0015159 Orphanet:56304 Orphanet:102 MONDO:0009738 sialidosis type 2 MONDO:0015159 Orphanet:87876 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009742 neuroectodermal melanolysosomal disease MONDO:0019289 Orphanet:33445 Orphanet:79375 hyperpigmentation of the skin MONDO:0009742 neuroectodermal melanolysosomal disease MONDO:0019716 Orphanet:33445 Orphanet:93460 overgrowth syndrome +MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:0020074 Orphanet:228329 Orphanet:98261 progressive myoclonus epilepsy +MONDO:0009745 neuronal ceroid lipofuscinosis 5 MONDO:0020074 Orphanet:228360 Orphanet:98261 progressive myoclonus epilepsy MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus MONDO:0015159 Orphanet:2720 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009766 oculocerebral hypopigmentation syndrome of Preus MONDO:0017305 Orphanet:2720 Orphanet:284811 syndromic oculocutaneous albinism MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type MONDO:0015159 Orphanet:2719 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009772 oculorenocerebellar syndrome MONDO:0015159 Orphanet:2715 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009793 orofaciodigital syndrome III MONDO:0015159 Orphanet:2752 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009794 orofaciodigital syndrome IV MONDO:0015159 Orphanet:2753 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009798 Primrose syndrome MONDO:0015159 Orphanet:3042 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009810 autosomal recessive distal osteolysis syndrome MONDO:0015159 Orphanet:2776 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -326,7 +323,6 @@ MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome MONDO:0015 MONDO:0009820 osteoporosis-pseudoglioma syndrome MONDO:0015159 Orphanet:2788 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009833 Shwachman-Diamond syndrome MONDO:0001713 Orphanet:811 Orphanet:68383 inherited aplastic anemia MONDO:0009833 Shwachman-Diamond syndrome MONDO:0015159 Orphanet:811 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0009833 Shwachman-Diamond syndrome MONDO:0015978 Orphanet:811 Orphanet:183681 functional neutrophil defect MONDO:0009841 PEHO syndrome MONDO:0015650 Orphanet:2836 Orphanet:166463 epilepsy syndrome MONDO:0009856 Peters plus syndrome MONDO:0850008 Orphanet:709 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations MONDO:0009925 autosomal recessive inherited pseudoxanthoma elasticum MONDO:0016340 Orphanet:758 Orphanet:217635 familial restrictive cardiomyopathy @@ -403,6 +399,7 @@ MONDO:0010498 MEND syndrome MONDO:0015159 Orphanet:401973 Orphanet:102283 multip MONDO:0010507 Xq25 microduplication syndrome MONDO:0015159 Orphanet:521258 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010514 combined immunodeficiency due to moesin deficiency MONDO:0018814 Orphanet:504530 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0010519 alpha thalassemia-X-linked intellectual disability syndrome MONDO:0015159 Orphanet:847 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0010523 X-linked reticulate pigmentary disorder MONDO:0019289 Orphanet:85453 Orphanet:79375 hyperpigmentation of the skin MONDO:0010526 Fabry disease MONDO:0019293 Orphanet:324 Orphanet:79379 skin vascular disease MONDO:0010529 X-linked spinocerebellar ataxia type 3 MONDO:0015159 Orphanet:85297 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome MONDO:0015159 Orphanet:1484 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -471,6 +468,7 @@ MONDO:0010816 Qazi Markouizos syndrome MONDO:0015159 Orphanet:3010 Orphanet:1022 MONDO:0010816 Qazi Markouizos syndrome MONDO:0019952 Orphanet:3010 Orphanet:97245 congenital myopathy MONDO:0010824 disorder of sex development-intellectual disability syndrome MONDO:0015159 Orphanet:2983 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010826 childhood absence epilepsy MONDO:0017704 Orphanet:64280 Orphanet:309 familial partial epilepsy +MONDO:0010830 neuronal ceroid lipofuscinosis 8 MONDO:0020074 Orphanet:228354 Orphanet:98261 progressive myoclonus epilepsy MONDO:0010840 pachygyria-intellectual disability-epilepsy syndrome MONDO:0015159 Orphanet:2798 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010879 CODAS syndrome MONDO:0015159 Orphanet:1458 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010881 mesomelia-synostoses syndrome MONDO:0019696 Orphanet:2496 Orphanet:93437 acromesomelic dysplasia @@ -480,6 +478,7 @@ MONDO:0010901 HEC syndrome MONDO:0016340 Orphanet:2119 Orphanet:217635 familial MONDO:0010901 HEC syndrome MONDO:0016345 Orphanet:2119 Orphanet:217720 non-familial restrictive cardiomyopathy MONDO:0010911 prolactin-producing pituitary gland adenoma MONDO:0003429 Orphanet:2965 Orphanet:314753 functioning pituitary gland adenoma MONDO:0010932 progressive bifocal chorioretinal atrophy MONDO:0957337 Orphanet:75373 Orphanet:519300 isolated chorioretinal dystrophy +MONDO:0010952 hereditary hyperferritinemia with congenital cataracts MONDO:0017763 Orphanet:163 Orphanet:309842 disorder of iron metabolism and transport MONDO:0010972 hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome MONDO:0015159 Orphanet:2180 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011010 Matthew-Wood syndrome MONDO:0015159 Orphanet:2470 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome MONDO:0015159 Orphanet:1858 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -495,7 +494,9 @@ MONDO:0011076 myofibrillar myopathy 1 MONDO:0016340 Orphanet:98909 Orphanet:2176 MONDO:0011078 anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis MONDO:0850008 Orphanet:2321 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations MONDO:0011093 mucopolysaccharidosis type 9 MONDO:0800088 Orphanet:67041 Orphanet:93448 lysosomal storage disease with skeletal involvement MONDO:0011128 Sheldon-hall syndrome MONDO:0957111 Orphanet:1147 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect +MONDO:0011132 T-cell immunodeficiency, congenital alopecia, and nail dystrophy MONDO:0044200 Orphanet:169095 Orphanet:317416 T-B+ severe combined immunodeficiency MONDO:0011134 Curry-Jones syndrome MONDO:0015159 Orphanet:1553 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011144 ceroid lipofuscinosis, neuronal, 6A MONDO:0020074 Orphanet:228363 Orphanet:98261 progressive myoclonus epilepsy MONDO:0011145 colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome MONDO:0016073 Orphanet:363741 Orphanet:202948 syndromic microphthalmia MONDO:0011150 acroosteolysis-keloid-like lesions-premature aging syndrome MONDO:0015333 Orphanet:363665 Orphanet:139033 progeroid syndrome MONDO:0011152 PHGDH deficiency MONDO:0035004 Orphanet:79351 Orphanet:583595 serine biosynthesis pathway deficiency, infantile/juvenile form @@ -530,6 +531,7 @@ MONDO:0011640 genitopatellar syndrome MONDO:0036042 Orphanet:85201 Orphanet:5977 MONDO:0011652 Phelan-McDermid syndrome MONDO:0015159 Orphanet:48652 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011669 hypotonia-cystinuria syndrome MONDO:0015962 Orphanet:238517 Orphanet:183592 inherited renal tubular disease MONDO:0011676 PHACE syndrome MONDO:0015159 Orphanet:42775 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0011676 PHACE syndrome MONDO:0016223 Orphanet:42775 Orphanet:210589 infantile hemangioma of rare localization MONDO:0011686 DNA ligase IV deficiency MONDO:0015159 Orphanet:99812 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011686 DNA ligase IV deficiency MONDO:0018814 Orphanet:99812 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0011706 Kufor-Rakeb syndrome MONDO:0020257 Orphanet:306674 Orphanet:98687 supranuclear oculomotor palsy @@ -572,21 +574,24 @@ MONDO:0012382 hyperinsulinemic hypoglycemia, familial, 4 MONDO:0017715 Orphanet: MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0011412 Orphanet:530298 Orphanet:85110 familial encephalopathy with neuroserpin inclusion bodies MONDO:0012391 neuronal ceroid lipofuscinosis 8 northern epilepsy variant MONDO:0015159 Orphanet:1947 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012400 cortical dysplasia-focal epilepsy syndrome MONDO:0015650 Orphanet:163681 Orphanet:166463 epilepsy syndrome +MONDO:0012414 neuronal ceroid lipofuscinosis 10 MONDO:0020074 Orphanet:228337 Orphanet:98261 progressive myoclonus epilepsy MONDO:0012423 MORM syndrome MONDO:0022410 Orphanet:75858 Orphanet:156165 retinal ciliopathy MONDO:0012436 neonatal diabetes mellitus with congenital hypothyroidism MONDO:0019741 Orphanet:79118 Orphanet:93587 familial cystic renal disease MONDO:0012496 Koolen-de Vries syndrome MONDO:0015338 Orphanet:96169 Orphanet:139393 syndromic craniosynostosis MONDO:0012517 Gaucher disease due to saposin C deficiency MONDO:0018150 Orphanet:309252 Orphanet:355 Gaucher disease MONDO:0012526 hereditary angioedema type 3 MONDO:0100567 Orphanet:100054 Orphanet:528647 hereditary angioedema with normal C1Inh MONDO:0012574 Potocki-Lupski syndrome MONDO:0015159 Orphanet:1713 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012588 neuronal ceroid lipofuscinosis 7 MONDO:0020074 Orphanet:228366 Orphanet:98261 progressive myoclonus epilepsy MONDO:0012589 Pitt-Hopkins syndrome MONDO:0015653 Orphanet:2896 Orphanet:166472 monogenic epilepsy MONDO:0012596 PSAT deficiency MONDO:0035004 Orphanet:284417 Orphanet:583595 serine biosynthesis pathway deficiency, infantile/juvenile form MONDO:0012605 isolated microphthalmia 5 MONDO:0016073 Orphanet:251279 Orphanet:202948 syndromic microphthalmia MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy MONDO:0015159 Orphanet:500533 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012634 craniofacial dysplasia - osteopenia syndrome MONDO:0015159 Orphanet:314555 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0015159 Orphanet:263508 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012638 microphthalmia-brain atrophy syndrome MONDO:0015159 Orphanet:77299 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012650 Cernunnos-XLF deficiency MONDO:0018814 Orphanet:169079 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0012687 familial cavitary optic disk anomaly MONDO:0850010 Orphanet:464760 Orphanet:519333 congenital optic disk excavation -MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0019261 Orphanet:263516 Orphanet:79263 infantile neuronal ceroid lipofuscinosis +MONDO:0012725 lipoprotein glomerulopathy MONDO:0019722 Orphanet:329481 Orphanet:93548 glomerular disorder MONDO:0012735 Temple-Baraitser syndrome MONDO:0015159 Orphanet:420561 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012739 microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome MONDO:0850008 Orphanet:139450 Orphanet:519276 anterior segment developmental abnormality with extraocular manifestations MONDO:0012747 glycogen storage disease due to aldolase A deficiency MONDO:0002412 Orphanet:57 Orphanet:79201 disorder of glycogen metabolism @@ -631,6 +636,7 @@ MONDO:0013767 autoimmune lymphoproliferative syndrome type 4 MONDO:0015757 Orpha MONDO:0013815 bent bone dysplasia syndrome 1 MONDO:0015338 Orphanet:313855 Orphanet:139393 syndromic craniosynostosis MONDO:0013863 combined immunodeficiency due to LRBA deficiency MONDO:0015126 Orphanet:445018 Orphanet:101956 polyendocrinopathy MONDO:0013863 combined immunodeficiency due to LRBA deficiency MONDO:0018814 Orphanet:445018 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0013866 neuronal ceroid lipofuscinosis 11 MONDO:0020074 Orphanet:314629 Orphanet:98261 progressive myoclonus epilepsy MONDO:0013873 IMAGe syndrome MONDO:0015514 Orphanet:85173 Orphanet:156643 hereditary endocrine growth disease MONDO:0013885 Malan overgrowth syndrome MONDO:0015159 Orphanet:420179 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013894 short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome MONDO:0005308 Orphanet:314394 Orphanet:363250 ciliopathy @@ -651,17 +657,18 @@ MONDO:0014044 dysmorphism-conductive hearing loss-heart defect syndrome MONDO:00 MONDO:0014082 cryptosporidiosis-chronic cholangitis-liver disease syndrome MONDO:0018814 Orphanet:357329 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0014119 intellectual disability-strabismus syndrome MONDO:0015159 Orphanet:363528 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0014139 Ehlers-Danlos syndrome, spondylodysplastic type, 2 MONDO:0034021 Orphanet:536467 Orphanet:536471 spondylodysplastic Ehlers-Danlos syndrome +MONDO:0014147 neuronal ceroid lipofuscinosis 13 MONDO:0020074 Orphanet:352709 Orphanet:98261 progressive myoclonus epilepsy MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome MONDO:0015333 Orphanet:363649 Orphanet:139033 progeroid syndrome MONDO:0014157 mandibular hypoplasia-deafness-progeroid syndrome MONDO:0020087 Orphanet:363649 Orphanet:98305 hereditary lipodystrophy MONDO:0014160 TCR-alpha-beta-positive T-cell deficiency MONDO:0019787 Orphanet:397959 Orphanet:94075 autoimmune enteropathy MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 MONDO:0015338 Orphanet:369837 Orphanet:139393 syndromic craniosynostosis MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO:0957111 Orphanet:371364 Orphanet:98738 neurological muscular channelopathy due to a genetic sodium channel defect MONDO:0014197 combined immunodeficiency due to MALT1 deficiency MONDO:0018814 Orphanet:397964 Orphanet:480549 non-SCID combined immunodeficiency -MONDO:0014218 severe dermatitis-multiple allergies-metabolic wasting syndrome MONDO:0018037 Orphanet:369992 Orphanet:331223 hyper-IgE syndrome MONDO:0014226 idiopathic CD4 lymphocytopenia MONDO:0018814 Orphanet:228000 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0014243 Schaaf-Yang syndrome MONDO:0018354 Orphanet:398069 Orphanet:398073 Prader-Willi-like syndrome MONDO:0014268 combined immunodeficiency due to OX40 deficiency MONDO:0015356 Orphanet:431149 Orphanet:140162 hereditary neoplastic syndrome MONDO:0014268 combined immunodeficiency due to OX40 deficiency MONDO:0018814 Orphanet:431149 Orphanet:480549 non-SCID combined immunodeficiency +MONDO:0014274 L-ferritin deficiency MONDO:0017763 Orphanet:440731 Orphanet:309842 disorder of iron metabolism and transport MONDO:0014276 combined immunodeficiency due to CD3gamma deficiency MONDO:0018814 Orphanet:169082 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0014300 proximal myopathy with extrapyramidal signs MONDO:0024237 Orphanet:401768 Orphanet:183500 inherited neurodegenerative disorder MONDO:0014332 hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0019242 Orphanet:401948 Orphanet:79197 inborn disorder of branched-chain amino acid metabolism @@ -672,7 +679,6 @@ MONDO:0014353 immunodeficiency 23 MONDO:0018037 Orphanet:443811 Orphanet:331223 MONDO:0014382 Tatton-Brown-Rahman overgrowth syndrome MONDO:0019716 Orphanet:404443 Orphanet:93460 overgrowth syndrome MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0015333 Orphanet:438134 Orphanet:139033 progeroid syndrome MONDO:0014399 ataxia-telangiectasia-like disorder 2 MONDO:0019303 Orphanet:438134 Orphanet:79389 premature aging syndrome -MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease MONDO:0016537 Orphanet:438159 Orphanet:238510 lymphoproliferative syndrome MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease MONDO:0019098 Orphanet:438159 Orphanet:71203 autoimmune thrombocytopenia MONDO:0014414 STAT3-related early-onset multisystem autoimmune disease MONDO:0020108 Orphanet:438159 Orphanet:98375 autoimmune hemolytic anemia MONDO:0014429 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency MONDO:0000001 Orphanet:319581 Orphanet:377788 disease @@ -749,8 +755,6 @@ MONDO:0015601 X-linked intellectual disability, van Esch type MONDO:0015159 Orph MONDO:0015608 acute myeloid leukemia and myelodysplastic syndromes related to radiation MONDO:0043459 Orphanet:164726 Orphanet:521132 radiation-induced disorder MONDO:0015612 Dent disease MONDO:0000044 Orphanet:1652 Orphanet:437 hereditary hypophosphatemic rickets MONDO:0015634 isolated osteopoikilosis MONDO:0017198 Orphanet:166119 Orphanet:2781 osteopetrosis -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis MONDO:0016295 Orphanet:168491 Orphanet:216 neuronal ceroid lipofuscinosis -MONDO:0015674 late infantile neuronal ceroid lipofuscinosis MONDO:0020074 Orphanet:168491 Orphanet:98261 progressive myoclonus epilepsy MONDO:0015691 hypereosinophilic syndrome MONDO:0020076 Orphanet:168956 Orphanet:98274 myeloproliferative neoplasm MONDO:0015705 autosomal recessive centronuclear myopathy MONDO:0957115 Orphanet:169186 Orphanet:98742 neurological muscular channelopathy due to a genetic ryanodine receptor defect MONDO:0015736 intermediate nemaline myopathy MONDO:0018958 Orphanet:171433 Orphanet:607 nemaline myopathy @@ -778,7 +782,9 @@ MONDO:0016088 hypoxanthine-guanine phosphoribosyltransferase deficiency MONDO:00 MONDO:0016097 symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers MONDO:0016147 Orphanet:206546 Orphanet:207085 qualitative or quantitative defects of dystrophin MONDO:0016113 bulbospinal muscular atrophy MONDO:0024257 Orphanet:206701 Orphanet:98505 hereditary motor neuron disease MONDO:0016163 autosomal dominant cerebellar ataxia type II MONDO:0020257 Orphanet:94147 Orphanet:98687 supranuclear oculomotor palsy +MONDO:0016237 diffuse neonatal hemangiomatosis MONDO:0016223 Orphanet:2123 Orphanet:210589 infantile hemangioma of rare localization MONDO:0016238 solitary fibrous tumor MONDO:0018078 Orphanet:2126 Orphanet:3394 soft tissue sarcoma +MONDO:0016239 cystinosis MONDO:0000044 Orphanet:213 Orphanet:437 hereditary hypophosphatemic rickets MONDO:0016263 primitive neuroectodermal tumor of the corpus uteri MONDO:0005210 Orphanet:213630 Orphanet:213620 uterine corpus sarcoma MONDO:0016292 nodular neuronal heterotopia MONDO:0015159 Orphanet:2149 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016318 progressive multifocal leukoencephalopathy MONDO:0006009 Orphanet:217260 Orphanet:98252 viral encephalitis @@ -795,7 +801,6 @@ MONDO:0016459 2q23.1 microdeletion syndrome MONDO:0015159 Orphanet:228402 Orphan MONDO:0016460 polyvalvular heart disease syndrome MONDO:0015159 Orphanet:228410 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016512 Kabuki syndrome MONDO:0020161 Orphanet:2322 Orphanet:98570 congenital ectropion MONDO:0016515 Kallmann syndrome-heart disease syndrome MONDO:0015159 Orphanet:2326 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0016537 lymphoproliferative syndrome MONDO:0015356 Orphanet:238510 Orphanet:140162 hereditary neoplastic syndrome MONDO:0016554 neonatal iodine exposure MONDO:0016556 Orphanet:238688 Orphanet:238699 transient congenital hypothyroidism due to neonatal factor MONDO:0016584 mandibuloacral dysplasia MONDO:0015333 Orphanet:2457 Orphanet:139033 progeroid syndrome MONDO:0016593 acquired ataxia MONDO:0000437 Orphanet:247242 Orphanet:102002 cerebellar ataxia @@ -857,11 +862,13 @@ MONDO:0017902 autosomal recessive Mendelian susceptibility to mycobacterial dise MONDO:0017903 autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency MONDO:0000001 Orphanet:319589 Orphanet:377788 disease MONDO:0017905 X-linked Mendelian susceptibility to mycobacterial diseases MONDO:0000001 Orphanet:319605 Orphanet:377788 disease MONDO:0017918 white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome MONDO:0015159 Orphanet:3207 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0017925 T-cell immunodeficiency with epidermodysplasia verruciformis MONDO:0018814 Orphanet:324294 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0017926 multiple paragangliomas associated with polycythemia MONDO:0005571 Orphanet:324299 Orphanet:98427 polycythemia MONDO:0017926 multiple paragangliomas associated with polycythemia MONDO:0035540 Orphanet:324299 Orphanet:573163 pheochromocytoma-paraganglioma MONDO:0017928 9p13 microdeletion syndrome MONDO:0015159 Orphanet:324313 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation MONDO:0015962 Orphanet:324525 Orphanet:183592 inherited renal tubular disease MONDO:0017936 benign Samaritan congenital myopathy MONDO:0957115 Orphanet:324581 Orphanet:98742 neurological muscular channelopathy due to a genetic ryanodine receptor defect +MONDO:0017941 chikungunya MONDO:0006009 Orphanet:324625 Orphanet:98252 viral encephalitis MONDO:0017942 Hendra virus infection MONDO:0006009 Orphanet:324632 Orphanet:98252 viral encephalitis MONDO:0017953 hereditary periodic fever syndrome MONDO:0957403 Orphanet:324924 Orphanet:324939 periodic fever syndrome of childhood MONDO:0017979 autoimmune lymphoproliferative syndrome MONDO:0015757 Orphanet:3261 Orphanet:171898 lymphoid hemopathy @@ -888,7 +895,6 @@ MONDO:0018214 generalized epilepsy with febrile seizures plus MONDO:0020071 Orph MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:0018078 Orphanet:370348 Orphanet:3394 soft tissue sarcoma MONDO:0018271 peripheral primitive neuroectodermal tumor MONDO:0021054 Orphanet:370348 Orphanet:223727 bone sarcoma MONDO:0018304 Schnitzler syndrome MONDO:0015158 Orphanet:37748 Orphanet:102237 unexplained periodic fever syndrome -MONDO:0018305 chronic granulomatous disease MONDO:0015978 Orphanet:379 Orphanet:183681 functional neutrophil defect MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome MONDO:0015159 Orphanet:391408 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0018320 primary microcephaly-mild intellectual disability-young-onset diabetes syndrome MONDO:0015967 Orphanet:391408 Orphanet:183625 monogenic diabetes MONDO:0018341 3q27.3 microdeletion syndrome MONDO:0016902 Orphanet:397695 Orphanet:262019 partial deletion of the long arm of chromosome 3 @@ -909,13 +915,14 @@ MONDO:0018608 pure autonomic failure MONDO:0015914 Orphanet:441 Orphanet:182058 MONDO:0018616 central serous chorioretinopathy MONDO:0957337 Orphanet:443079 Orphanet:519300 isolated chorioretinal dystrophy MONDO:0018631 Marie Unna hereditary hypotrichosis MONDO:0004907 Orphanet:444 Orphanet:79364 alopecia MONDO:0018643 susceptibility to localized juvenile periodontitis MONDO:0000001 Orphanet:447740 Orphanet:377788 disease -MONDO:0018643 susceptibility to localized juvenile periodontitis MONDO:0015978 Orphanet:447740 Orphanet:183681 functional neutrophil defect MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0004907 Orphanet:447961 Orphanet:79364 alopecia MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0015356 Orphanet:447961 Orphanet:140162 hereditary neoplastic syndrome MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0019287 Orphanet:447961 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0018657 pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome MONDO:0019288 Orphanet:447961 Orphanet:79374 skin pigmentation disorder MONDO:0018686 acquired Creutzfeldt-Jakob disease MONDO:0035562 Orphanet:454700 Orphanet:576360 acquired human prion disease MONDO:0018705 infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome MONDO:0015159 Orphanet:457205 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0018734 verrucous hemangioma MONDO:0016231 Orphanet:464318 Orphanet:211247 capillary malformation +MONDO:0018736 kaposiform lymphangiomatosis MONDO:0002013 Orphanet:464329 Orphanet:2415 lymphangioma MONDO:0018740 drug-induced methemoglobinemia MONDO:0019050 Orphanet:464453 Orphanet:68364 inherited hemoglobinopathy MONDO:0018767 severe primary trimethylaminuria MONDO:0019189 Orphanet:468726 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism MONDO:0018770 Jeune syndrome MONDO:0022410 Orphanet:474 Orphanet:156165 retinal ciliopathy @@ -982,9 +989,6 @@ MONDO:0019232 inborn disorder of peptide metabolism MONDO:0019189 Orphanet:79187 MONDO:0019235 inborn disorder of phenylalanine and tyrosine metabolism MONDO:0019189 Orphanet:79190 Orphanet:79062 inborn disorder of amino acid and other organic acid metabolism MONDO:0019245 lysosomal lipid storage disorder MONDO:0019255 Orphanet:79204 Orphanet:79225 sphingolipidosis MONDO:0019249 mucopolysaccharidosis MONDO:0015338 Orphanet:79213 Orphanet:139393 syndromic craniosynostosis -MONDO:0019260 adult neuronal ceroid lipofuscinosis MONDO:0020074 Orphanet:79262 Orphanet:98261 progressive myoclonus epilepsy -MONDO:0019261 infantile neuronal ceroid lipofuscinosis MONDO:0020074 Orphanet:79263 Orphanet:98261 progressive myoclonus epilepsy -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis MONDO:0020074 Orphanet:79264 Orphanet:98261 progressive myoclonus epilepsy MONDO:0019280 hypertrichosis MONDO:0019278 Orphanet:79365 Orphanet:79363 hair anomaly MONDO:0019284 inherited isolated nail anomaly MONDO:0019283 Orphanet:79369 Orphanet:79368 nail anomaly MONDO:0019321 atypical Werner syndrome MONDO:0015333 Orphanet:79474 Orphanet:139033 progeroid syndrome @@ -999,6 +1003,7 @@ MONDO:0019383 acute disseminated encephalomyelitis MONDO:0020640 Orphanet:83597 MONDO:0019383 acute disseminated encephalomyelitis MONDO:0044685 Orphanet:83597 Orphanet:499047 autoimmune/inflammatory optic neuropathy MONDO:0019385 steroid-responsive encephalopathy associated with autoimmune thyroiditis MONDO:0016593 Orphanet:83601 Orphanet:247242 acquired ataxia MONDO:0019386 progressive rubella panencephalitis MONDO:0006009 Orphanet:83616 Orphanet:98252 viral encephalitis +MONDO:0019388 pelvis syndrome MONDO:0016223 Orphanet:83628 Orphanet:210589 infantile hemangioma of rare localization MONDO:0019391 Fanconi anemia MONDO:0015159 Orphanet:84 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019391 Fanconi anemia MONDO:0019289 Orphanet:84 Orphanet:79375 hyperpigmentation of the skin MONDO:0019394 Senior-Boichis syndrome MONDO:0019741 Orphanet:84081 Orphanet:93587 familial cystic renal disease @@ -1022,6 +1027,7 @@ MONDO:0019736 dense deposit disease MONDO:0018013 Orphanet:93571 Orphanet:329918 MONDO:0019784 12q14 microdeletion syndrome MONDO:0015159 Orphanet:94063 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019784 12q14 microdeletion syndrome MONDO:0017198 Orphanet:94063 Orphanet:2781 osteopetrosis MONDO:0019788 non-secreting paraganglioma MONDO:0035540 Orphanet:94080 Orphanet:573163 pheochromocytoma-paraganglioma +MONDO:0019797 acrodysostosis MONDO:0015159 Orphanet:950 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019851 acquired primary ovarian failure MONDO:0015514 Orphanet:95709 Orphanet:156643 hereditary endocrine growth disease MONDO:0019928 48,XXXY syndrome MONDO:0015159 Orphanet:96263 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0019929 49,XXXXY syndrome MONDO:0015159 Orphanet:96264 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -1068,7 +1074,7 @@ MONDO:0024557 ataxia-telangiectasia-like disorder 1 MONDO:0019293 Orphanet:25134 MONDO:0024781 immunodeficiency 102 MONDO:0018814 Orphanet:653751 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0025193 oculopharyngodistal myopathy MONDO:0016108 Orphanet:98897 Orphanet:206650 autosomal dominant distal myopathy MONDO:0025514 livedoid vasculopathy MONDO:0019293 Orphanet:542643 Orphanet:79379 skin vascular disease -MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency MONDO:0016537 Orphanet:542301 Orphanet:238510 lymphoproliferative syndrome +MONDO:0029134 severe combined immunodeficiency due to CARMIL2 deficiency MONDO:0018814 Orphanet:542301 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0030045 Liberfarb syndrome MONDO:0015159 Orphanet:589442 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy MONDO:0015159 Orphanet:589435 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0030074 spondylometaphyseal dysplasia with corneal dystrophy MONDO:0016763 Orphanet:589435 Orphanet:254 spondylometaphyseal dysplasia @@ -1109,6 +1115,7 @@ MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities MONDO:0033642 neurodevelopmental disorder with alopecia and brain abnormalities MONDO:0017356 Orphanet:544488 Orphanet:289869 inborn disorder of ornithine metabolism MONDO:0033810 isolated iridoschisis MONDO:0011119 Orphanet:519392 Orphanet:98634 iridogoniodysgenesis MONDO:0033938 acute radiation syndrome MONDO:0043459 Orphanet:454831 Orphanet:521132 radiation-induced disorder +MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency MONDO:0018814 Orphanet:538958 Orphanet:480549 non-SCID combined immunodeficiency MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome MONDO:0015962 Orphanet:544628 Orphanet:183592 inherited renal tubular disease MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome MONDO:0015967 Orphanet:544628 Orphanet:183625 monogenic diabetes MONDO:0034110 atypical Fanconi syndrome-neonatal hyperinsulinism syndrome MONDO:0017182 Orphanet:544628 Orphanet:276525 familial hyperinsulinism @@ -1182,6 +1189,7 @@ MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-fa MONDO:0044646 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome MONDO:0015653 Orphanet:496641 Orphanet:166472 monogenic epilepsy MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome MONDO:0015159 Orphanet:496693 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome MONDO:0015161 Orphanet:496693 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability +MONDO:0044687 chronic relapsing inflammatory optic neuropathy MONDO:0044688 Orphanet:499085 Orphanet:499096 isolated optic neuritis MONDO:0044701 childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder MONDO:0024237 Orphanet:500180 Orphanet:183500 inherited neurodegenerative disorder MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0100309 Orphanet:502423 Orphanet:183518 hereditary ataxia MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome MONDO:0015159 Orphanet:502430 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -1222,19 +1230,14 @@ MONDO:0800438 developmental delay with short stature, dysmorphic facial features MONDO:0800445 Birt-Hogg-Dube syndrome 1 MONDO:0005308 Orphanet:122 Orphanet:363250 ciliopathy MONDO:0800452 congenital amegakaryocytic thrombocytopenia 1 MONDO:0001713 Orphanet:3319 Orphanet:68383 inherited aplastic anemia MONDO:0800453 juvenile absence epilepsy MONDO:0017704 Orphanet:1941 Orphanet:309 familial partial epilepsy -MONDO:0850001 congenital neuronal ceroid lipofuscinosis MONDO:0020074 Orphanet:168486 Orphanet:98261 progressive myoclonus epilepsy MONDO:0850008 anterior segment developmental abnormality with extraocular manifestations MONDO:0019503 Orphanet:519276 Orphanet:88632 anterior segment dysgenesis MONDO:0850013 twin anemia-polycythemia sequence MONDO:0005570 Orphanet:617294 Orphanet:97992 hematologic disorder MONDO:0850053 F12-associated cold autoinflammatory syndrome MONDO:0017953 Orphanet:617919 Orphanet:324924 hereditary periodic fever syndrome MONDO:0850054 hemophilia B leyden MONDO:0010604 Orphanet:617930 Orphanet:98879 hemophilia B MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome MONDO:0015159 Orphanet:619233 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0850059 hereditary persistence of fetal hemoglobin-intellectual disability syndrome MONDO:0019050 Orphanet:619233 Orphanet:68364 inherited hemoglobinopathy -MONDO:0850065 neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 MONDO:0015542 Orphanet:619363 Orphanet:158041 secondary hemophagocytic lymphohistiocytosis MONDO:0850066 SAMD9L-associated autoinflammatory syndrome MONDO:0700264 Orphanet:619367 Orphanet:477647 type 1 interferonopathy MONDO:0850066 SAMD9L-associated autoinflammatory syndrome MONDO:0957408 Orphanet:619367 Orphanet:481671 type 1 interferonopathy of childhood -MONDO:0850067 immune deficiency due to impaired neutrophil phagocytosis and migration MONDO:0015978 Orphanet:619941 Orphanet:183681 functional neutrophil defect -MONDO:0850068 early-onset autoimmunity-autoinflammation-immunodeficiency syndrome MONDO:0016537 Orphanet:619948 Orphanet:238510 lymphoproliferative syndrome -MONDO:0850069 familial hyperinflammatory lymphoproliferative immunodeficiency MONDO:0016537 Orphanet:619953 Orphanet:238510 lymphoproliferative syndrome MONDO:0850070 CADINS disease MONDO:0018037 Orphanet:619972 Orphanet:331223 hyper-IgE syndrome MONDO:0850071 developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome MONDO:0019222 Orphanet:619979 Orphanet:79173 inborn disorder of methionine cycle and sulfur amino acid metabolism MONDO:0850073 non-syndromic unicoronal craniosynostosis MONDO:0850072 Orphanet:620102 Orphanet:620096 non-syndromic unisutural craniosynostosis diff --git a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv index f6853f1d..5405f364 100644 --- a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv @@ -283,8 +283,6 @@ MONDO:0007548 transient bullous dermolysis of the newborn MONDO:0006543 Orphanet MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa MONDO:0006543 Orphanet:231568 Orphanet:303 epidermolysis bullosa dystrophica MONDO:0007560 reading seizures MONDO:0017768 Orphanet:166433 Orphanet:310 reflex epilepsy MONDO:0007561 multiple epiphyseal dysplasia type 1 MONDO:0016648 Orphanet:93308 Orphanet:251 multiple epiphyseal dysplasia -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type MONDO:0016648 Orphanet:166011 Orphanet:251 multiple epiphyseal dysplasia -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type MONDO:0022800 Orphanet:166011 Orphanet:93421 type 2 collagenopathy MONDO:0007565 familial cylindromatosis MONDO:0011512 Orphanet:211 Orphanet:79493 Brooke-Spiegler syndrome MONDO:0007574 spinocerebellar ataxia type 34 MONDO:0019270 Orphanet:1955 Orphanet:79355 erythrokeratoderma MONDO:0007574 spinocerebellar ataxia type 34 MONDO:0019792 Orphanet:1955 Orphanet:94145 autosomal dominant cerebellar ataxia type I @@ -305,6 +303,7 @@ MONDO:0007636 frontorhiny MONDO:0016643 Orphanet:391474 Orphanet:250 frontonasal MONDO:0007648 hereditary diffuse gastric adenocarcinoma MONDO:0018502 Orphanet:26106 Orphanet:423776 hereditary gastric cancer MONDO:0007650 MALT lymphoma MONDO:0017604 Orphanet:52417 Orphanet:300912 marginal zone lymphoma MONDO:0007651 gastrocutaneous syndrome MONDO:0019289 Orphanet:2069 Orphanet:79375 hyperpigmentation of the skin +MONDO:0007671 fibronectin glomerulopathy MONDO:0019722 Orphanet:84090 Orphanet:93548 glomerular disorder MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome MONDO:0015161 Orphanet:2091 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors MONDO:0015356 Orphanet:276399 Orphanet:140162 hereditary neoplastic syndrome MONDO:0007686 gray platelet syndrome MONDO:0020117 Orphanet:721 Orphanet:98455 alpha granule disease @@ -350,7 +349,6 @@ MONDO:0007874 trichorhinophalangeal syndrome type II MONDO:0016907 Orphanet:502 MONDO:0007874 trichorhinophalangeal syndrome type II MONDO:0017951 Orphanet:502 Orphanet:324764 trichorhinophalangeal syndrome MONDO:0007875 Larsen syndrome MONDO:0019690 Orphanet:503 Orphanet:93425 filamin-related bone disorder MONDO:0007885 Legg-Calve-Perthes disease MONDO:0018381 Orphanet:2380 Orphanet:399319 osteochondrosis -MONDO:0007885 Legg-Calve-Perthes disease MONDO:0022800 Orphanet:2380 Orphanet:93421 type 2 collagenopathy MONDO:0007891 familial generalized lentiginosis MONDO:0019289 Orphanet:231040 Orphanet:79375 hyperpigmentation of the skin MONDO:0007892 Lenz-Majewski hyperostotic dwarfism MONDO:0015159 Orphanet:2658 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0015161 Orphanet:500 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -418,7 +416,6 @@ MONDO:0008123 autosomal dominant omodysplasia MONDO:0017136 Orphanet:93328 Orpha MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome MONDO:0015159 Orphanet:2743 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008133 optic atrophy 3 MONDO:0020250 Orphanet:67036 Orphanet:98672 autosomal dominant optic atrophy MONDO:0008134 autosomal dominant optic atrophy, classic form MONDO:0020250 Orphanet:98673 Orphanet:98672 autosomal dominant optic atrophy -MONDO:0008137 orofaciodigital syndrome X MONDO:0015375 Orphanet:2756 Orphanet:140997 orofaciodigital syndrome MONDO:0008139 OSLAM syndrome MONDO:0019060 Orphanet:2760 Orphanet:68411 bone neoplasm MONDO:0008142 Thiemann disease, familial form MONDO:0018381 Orphanet:3314 Orphanet:399319 osteochondrosis MONDO:0008145 Ollier disease MONDO:0019060 Orphanet:296 Orphanet:68411 bone neoplasm @@ -430,8 +427,6 @@ MONDO:0008165 southeast Asian ovalocytosis MONDO:0020102 Orphanet:98868 Orphanet MONDO:0008175 pacman dysplasia MONDO:0019707 Orphanet:1952 Orphanet:93449 primary osteolysis MONDO:0008182 nasopalpebral lipoma-coloboma syndrome MONDO:0015161 Orphanet:2399 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008195 paramyotonia congenita of Von Eulenburg MONDO:0016120 Orphanet:684 Orphanet:206970 myotonic syndrome -MONDO:0008196 parastremmatic dwarfism MONDO:0018240 Orphanet:2646 Orphanet:364820 TRPV4-related bone disorder -MONDO:0008196 parastremmatic dwarfism MONDO:0019698 Orphanet:2646 Orphanet:93439 bent bone dysplasia MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy MONDO:0016956 Orphanet:99027 Orphanet:262869 partial trisomy of the long arm of chromosome 5 MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy MONDO:0019046 Orphanet:99027 Orphanet:68356 leukodystrophy MONDO:0008221 prolidase deficiency MONDO:0019232 Orphanet:742 Orphanet:79187 inborn disorder of peptide metabolism @@ -869,7 +864,6 @@ MONDO:0009480 Joubert syndrome with oculorenal defect MONDO:0015369 Orphanet:231 MONDO:0009483 Kapur-Toriello syndrome MONDO:0015159 Orphanet:2328 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009485 oculocerebrofacial syndrome, Kaufman type MONDO:0015159 Orphanet:2707 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009486 autosomal recessive Kenny-Caffey syndrome MONDO:0016516 Orphanet:93324 Orphanet:2333 Kenny-Caffey syndrome -MONDO:0009490 Papillon-Lefevre disease MONDO:0015978 Orphanet:678 Orphanet:183681 functional neutrophil defect MONDO:0009490 Papillon-Lefevre disease MONDO:0017739 Orphanet:678 Orphanet:309340 disorder of lysosomal-related organelles MONDO:0009491 Haim-Munk syndrome MONDO:0017739 Orphanet:2342 Orphanet:309340 disorder of lysosomal-related organelles MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency MONDO:0019229 Orphanet:832 Orphanet:79183 inborn disorder of ketolysis @@ -882,7 +876,6 @@ MONDO:0009501 metabolic myopathy due to lactate transporter defect MONDO:0020123 MONDO:0009502 pyruvate dehydrogenase E2 deficiency MONDO:0019169 Orphanet:79244 Orphanet:765 pyruvate dehydrogenase deficiency MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency MONDO:0019169 Orphanet:255182 Orphanet:765 pyruvate dehydrogenase deficiency MONDO:0009504 mitochondrial DNA depletion syndrome 9 MONDO:0016796 Orphanet:17 Orphanet:254803 mitochondrial DNA depletion syndrome, encephalomyopathic form -MONDO:0009506 specific granule deficiency MONDO:0015978 Orphanet:169142 Orphanet:183681 functional neutrophil defect MONDO:0009507 Lambert syndrome MONDO:0015159 Orphanet:1296 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009509 Landau-Kleffner syndrome MONDO:0020072 Orphanet:98818 Orphanet:98259 childhood-onset epilepsy syndrome MONDO:0009513 laryngo-onycho-cutaneous syndrome MONDO:0017612 Orphanet:2407 Orphanet:305 junctional epidermolysis bullosa @@ -977,7 +970,6 @@ MONDO:0009691 mycosis fungoides MONDO:0015821 Orphanet:2584 Orphanet:178566 myco MONDO:0009692 primary myelofibrosis MONDO:0015610 Orphanet:824 Orphanet:164823 acquired aplastic anemia MONDO:0009692 primary myelofibrosis MONDO:0020076 Orphanet:824 Orphanet:98274 myeloproliferative neoplasm MONDO:0009693 plasma cell myeloma MONDO:0004959 Orphanet:29073 Orphanet:98282 plasma cell neoplasm -MONDO:0009694 myeloperoxidase deficiency MONDO:0015978 Orphanet:2587 Orphanet:183681 functional neutrophil defect MONDO:0009696 juvenile myoclonic epilepsy MONDO:0017704 Orphanet:307 Orphanet:309 familial partial epilepsy MONDO:0009697 Lafora disease MONDO:0020074 Orphanet:501 Orphanet:98261 progressive myoclonus epilepsy MONDO:0009698 Unverricht-Lundborg syndrome MONDO:0020074 Orphanet:308 Orphanet:98261 progressive myoclonus epilepsy @@ -998,6 +990,8 @@ MONDO:0009737 galactosialidosis MONDO:0800088 Orphanet:351 Orphanet:93448 lysoso MONDO:0009738 sialidosis type 2 MONDO:0017734 Orphanet:87876 Orphanet:309294 sialidosis MONDO:0009738 sialidosis type 2 MONDO:0800088 Orphanet:87876 Orphanet:93448 lysosomal storage disease with skeletal involvement MONDO:0009740 neurofaciodigitorenal syndrome MONDO:0015159 Orphanet:2673 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:0016295 Orphanet:228329 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0009745 neuronal ceroid lipofuscinosis 5 MONDO:0016295 Orphanet:228360 Orphanet:216 neuronal ceroid lipofuscinosis MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MONDO:0100512 Orphanet:255229 Orphanet:254871 mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:0009760 Norman-Roberts syndrome MONDO:0015204 Orphanet:89844 Orphanet:1083 microlissencephaly MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type MONDO:0017305 Orphanet:2719 Orphanet:284811 syndromic oculocutaneous albinism @@ -1009,7 +1003,6 @@ MONDO:0009779 autosomal recessive omodysplasia MONDO:0017136 Orphanet:93329 Orph MONDO:0009780 lethal omphalocele-cleft palate syndrome MONDO:0015159 Orphanet:2736 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009787 3-methylglutaconic aciduria type 3 MONDO:0017359 Orphanet:67047 Orphanet:289902 3-methylglutaconic aciduria MONDO:0009792 ichthyosis-oral and digital anomalies syndrome MONDO:0015161 Orphanet:2272 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009793 orofaciodigital syndrome III MONDO:0015375 Orphanet:2752 Orphanet:140997 orofaciodigital syndrome MONDO:0009794 orofaciodigital syndrome IV MONDO:0015375 Orphanet:2753 Orphanet:140997 orofaciodigital syndrome MONDO:0009794 orofaciodigital syndrome IV MONDO:0015929 Orphanet:2753 Orphanet:182108 thoracic malformation MONDO:0009794 orofaciodigital syndrome IV MONDO:0019691 Orphanet:2753 Orphanet:93426 short rib dysplasia @@ -1052,7 +1045,6 @@ MONDO:0009900 polysyndactyly-cardiac malformation syndrome MONDO:0015161 Orphane MONDO:0009901 Bartsocas-Papas syndrome 1 MONDO:0017435 Orphanet:1234 Orphanet:294963 popliteal pterygium syndrome MONDO:0009901 Bartsocas-Papas syndrome 1 MONDO:0019287 Orphanet:1234 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009901 Bartsocas-Papas syndrome 1 MONDO:0043009 Orphanet:1234 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0009902 cutaneous porphyria MONDO:0019142 Orphanet:79277 Orphanet:738 inherited porphyria MONDO:0009903 postaxial acrofacial dysostosis MONDO:0015161 Orphanet:246 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009903 postaxial acrofacial dysostosis MONDO:0018237 Orphanet:246 Orphanet:364574 acrofacial dysostosis MONDO:0009904 Gitelman syndrome MONDO:0015962 Orphanet:358 Orphanet:183592 inherited renal tubular disease @@ -1124,7 +1116,6 @@ MONDO:0010088 mucosulfatidosis MONDO:0015327 Orphanet:585 Orphanet:139009 develo MONDO:0010088 mucosulfatidosis MONDO:0019255 Orphanet:585 Orphanet:79225 sphingolipidosis MONDO:0010088 mucosulfatidosis MONDO:0800088 Orphanet:585 Orphanet:93448 lysosomal storage disease with skeletal involvement MONDO:0010089 isolated sulfite oxidase deficiency MONDO:0019358 Orphanet:99731 Orphanet:833 encephalopathy due to sulfite oxidase deficiency -MONDO:0010090 Summitt syndrome MONDO:0015338 Orphanet:3210 Orphanet:139393 syndromic craniosynostosis MONDO:0010092 Filippi syndrome MONDO:0015159 Orphanet:3255 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010094 spondylocarpotarsal synostosis syndrome MONDO:0019690 Orphanet:3275 Orphanet:93425 filamin-related bone disorder MONDO:0010094 spondylocarpotarsal synostosis syndrome MONDO:0019694 Orphanet:3275 Orphanet:93434 spondylodysplastic dysplasia @@ -1165,8 +1156,6 @@ MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:0016826 MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD MONDO:0016826 Orphanet:79283 Orphanet:26 methylmalonic aciduria and homocystinuria MONDO:0010188 familial isolated deficiency of vitamin E MONDO:0020044 Orphanet:96 Orphanet:98096 autosomal recessive metabolic cerebellar ataxia MONDO:0010191 von Willebrand disease 3 MONDO:0019565 Orphanet:166096 Orphanet:903 hereditary von Willebrand disease -MONDO:0010193 Weaver syndrome MONDO:0015159 Orphanet:3447 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010193 Weaver syndrome MONDO:0019716 Orphanet:3447 Orphanet:93460 overgrowth syndrome MONDO:0010196 Werner syndrome MONDO:0015333 Orphanet:902 Orphanet:139033 progeroid syndrome MONDO:0010199 white forelock with malformations MONDO:0015161 Orphanet:2475 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0010200 Wilson disease MONDO:0017762 Orphanet:905 Orphanet:309839 disorder of copper metabolism @@ -1291,7 +1280,6 @@ MONDO:0010621 CHILD syndrome MONDO:0015161 Orphanet:139 Orphanet:102285 multiple MONDO:0010621 CHILD syndrome MONDO:0017269 Orphanet:139 Orphanet:281210 X-linked ichthyosis syndrome MONDO:0010621 CHILD syndrome MONDO:0019240 Orphanet:139 Orphanet:79195 sterol biosynthesis disorder MONDO:0010621 CHILD syndrome MONDO:0019701 Orphanet:139 Orphanet:93442 chondrodysplasia punctata -MONDO:0010627 X-linked lymphoproliferative syndrome MONDO:0016537 Orphanet:2442 Orphanet:238510 lymphoproliferative syndrome MONDO:0010631 incontinentia pigmenti MONDO:0019287 Orphanet:464 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome MONDO:0017007 Orphanet:1018 Orphanet:263756 partial deletion of the long arm of chromosome X MONDO:0010645 oculocerebrorenal syndrome MONDO:0015962 Orphanet:534 Orphanet:183592 inherited renal tubular disease @@ -1324,7 +1312,6 @@ MONDO:0010733 hereditary spastic paraplegia 2 MONDO:0019046 Orphanet:99015 Orpha MONDO:0010735 Kennedy disease MONDO:0024237 Orphanet:481 Orphanet:183500 inherited neurodegenerative disorder MONDO:0010738 spondylometaphyseal dysplasia, Golden type MONDO:0016763 Orphanet:168544 Orphanet:254 spondylometaphyseal dysplasia MONDO:0010742 pentalogy of Cantrell MONDO:0015161 Orphanet:1335 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010785 maternally-inherited diabetes and deafness MONDO:0015967 Orphanet:225 Orphanet:183625 monogenic diabetes MONDO:0010788 Leber hereditary optic neuropathy MONDO:0020249 Orphanet:104 Orphanet:98671 hereditary optic neuropathy MONDO:0010801 spondylocamptodactyly syndrome MONDO:0019694 Orphanet:3180 Orphanet:93434 spondylodysplastic dysplasia MONDO:0010805 bladder exstrophy MONDO:0017919 Orphanet:93930 Orphanet:322 exstrophy-epispadias complex @@ -1501,13 +1488,11 @@ MONDO:0011481 craniosynostosis 2 MONDO:0015338 Orphanet:1541 Orphanet:139393 syn MONDO:0011486 congenital muscular dystrophy 1B MONDO:0019950 Orphanet:98893 Orphanet:97242 congenital muscular dystrophy MONDO:0011487 Huntington disease-like 3 MONDO:0015548 Orphanet:157946 Orphanet:158266 Huntington disease-like syndrome MONDO:0011493 Stickler syndrome type 2 MONDO:0019354 Orphanet:90654 Orphanet:828 Stickler syndrome -MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis MONDO:0022800 Orphanet:93279 Orphanet:93421 type 2 collagenopathy MONDO:0011497 hereditary North American Indian childhood cirrhosis MONDO:0015762 Orphanet:168583 Orphanet:172 progressive familial intrahepatic cholestasis MONDO:0011506 familial infantile myoclonic epilepsy MONDO:0015653 Orphanet:352582 Orphanet:166472 monogenic epilepsy MONDO:0011510 Bohring-Opitz syndrome MONDO:0015159 Orphanet:97297 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011514 tricuspid atresia MONDO:0020289 Orphanet:1209 Orphanet:98721 congenital tricuspid malformation MONDO:0011518 Wiedemann-Steiner syndrome MONDO:0015159 Orphanet:319182 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011524 Dianzani autoimmune lymphoproliferative disease MONDO:0016537 Orphanet:275523 Orphanet:238510 lymphoproliferative syndrome MONDO:0011527 Charcot-Marie-Tooth disease type 4E MONDO:0018995 Orphanet:99951 Orphanet:64749 Charcot-Marie-Tooth disease type 4 MONDO:0011529 spinocerebellar ataxia type 13 MONDO:0019792 Orphanet:98768 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0011534 Charcot-Marie-Tooth disease type 4G MONDO:0018995 Orphanet:99953 Orphanet:64749 Charcot-Marie-Tooth disease type 4 @@ -1537,7 +1522,6 @@ MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C MONDO:0018993 Orphanet: MONDO:0011638 neuroferritinopathy MONDO:0015548 Orphanet:157846 Orphanet:158266 Huntington disease-like syndrome MONDO:0011638 neuroferritinopathy MONDO:0017763 Orphanet:157846 Orphanet:309842 disorder of iron metabolism and transport MONDO:0011638 neuroferritinopathy MONDO:0018307 Orphanet:157846 Orphanet:385 neurodegeneration with brain iron accumulation -MONDO:0011652 Phelan-McDermid syndrome MONDO:0022760 Orphanet:48652 Orphanet:262182 chromosome 22q deletion MONDO:0011655 alveolar soft part sarcoma MONDO:0018078 Orphanet:163699 Orphanet:3394 soft tissue sarcoma MONDO:0011669 hypotonia-cystinuria syndrome MONDO:0019216 Orphanet:238517 Orphanet:79166 inborn disorder of amino acid transport MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency MONDO:0020066 Orphanet:230839 Orphanet:98249 Ehlers-Danlos syndrome @@ -1561,7 +1545,6 @@ MONDO:0011731 glucose-galactose malabsorption MONDO:0019226 Orphanet:35710 Orpha MONDO:0011732 familial digital arthropathy-brachydactyly MONDO:0018240 Orphanet:85169 Orphanet:364820 TRPV4-related bone disorder MONDO:0011738 bilateral frontoparietal polymicrogyria MONDO:0017091 Orphanet:101070 Orphanet:268940 bilateral polymicrogyria MONDO:0011740 Carney-Stratakis syndrome MONDO:0015079 Orphanet:97286 Orphanet:100094 multiple polyglandular tumor -MONDO:0011744 primary intraosseous venous malformation MONDO:0016223 Orphanet:140436 Orphanet:210589 infantile hemangioma of rare localization MONDO:0011758 Hurler syndrome MONDO:0001586 Orphanet:93473 Orphanet:579 mucopolysaccharidosis type 1 MONDO:0011759 Hurler-Scheie syndrome MONDO:0001586 Orphanet:93476 Orphanet:579 mucopolysaccharidosis type 1 MONDO:0011760 Scheie syndrome MONDO:0001586 Orphanet:93474 Orphanet:579 mucopolysaccharidosis type 1 @@ -1579,7 +1562,6 @@ MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome MONDO:0015 MONDO:0011795 anonychia-microcephaly syndrome MONDO:0015161 Orphanet:1094 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 MONDO:0020127 Orphanet:94124 Orphanet:98497 hereditary peripheral neuropathy MONDO:0011803 hereditary spastic paraplegia 7 MONDO:0100309 Orphanet:99013 Orphanet:183518 hereditary ataxia -MONDO:0011806 osteofibrous dysplasia MONDO:0018230 Orphanet:488265 Orphanet:364526 skeletal dysplasia MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome MONDO:0020047 Orphanet:95434 Orphanet:98099 autosomal recessive syndromic cerebellar ataxia MONDO:0011818 isolated focal cortical dysplasia type II MONDO:0019009 Orphanet:268994 Orphanet:65683 isolated focal cortical dysplasia MONDO:0011819 spinocerebellar ataxia type 19/22 MONDO:0019792 Orphanet:98772 Orphanet:94145 autosomal dominant cerebellar ataxia type I @@ -1629,7 +1611,6 @@ MONDO:0011975 paternal uniparental disomy of chromosome 14 MONDO:0016779 Orphane MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome MONDO:0020087 Orphanet:50811 Orphanet:98305 hereditary lipodystrophy MONDO:0011977 8q22.1 microdeletion syndrome MONDO:0015161 Orphanet:178303 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0011977 8q22.1 microdeletion syndrome MONDO:0016907 Orphanet:178303 Orphanet:262065 partial deletion of the long arm of chromosome 8 -MONDO:0011988 neutrophil immunodeficiency syndrome MONDO:0015978 Orphanet:183707 Orphanet:183681 functional neutrophil defect MONDO:0011997 Hermansky-Pudlak syndrome 2 MONDO:0019312 Orphanet:183678 Orphanet:79430 Hermansky-Pudlak syndrome MONDO:0012008 Lelis syndrome MONDO:0019287 Orphanet:140936 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C MONDO:0019548 Orphanet:100045 Orphanet:90114 autosomal dominant intermediate Charcot-Marie-Tooth disease @@ -1757,6 +1738,7 @@ MONDO:0012552 multiple endocrine neoplasia type 4 MONDO:0017169 Orphanet:276152 MONDO:0012556 DK1-congenital disorder of glycosylation MONDO:0017749 Orphanet:91131 Orphanet:309526 disorder of multiple glycosylation MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome MONDO:0016801 Orphanet:91130 Orphanet:254830 mitochondrial substrate carrier disorder MONDO:0012574 Potocki-Lupski syndrome MONDO:0016950 Orphanet:1713 Orphanet:262803 partial duplication of the short arm of chromosome 17 +MONDO:0012588 neuronal ceroid lipofuscinosis 7 MONDO:0016295 Orphanet:228366 Orphanet:216 neuronal ceroid lipofuscinosis MONDO:0012589 Pitt-Hopkins syndrome MONDO:0015159 Orphanet:2896 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy MONDO:0015653 Orphanet:500533 Orphanet:166472 monogenic epilepsy MONDO:0012621 deafness-infertility syndrome MONDO:0016913 Orphanet:94064 Orphanet:262119 partial deletion of the long arm of chromosome 15 @@ -1776,6 +1758,8 @@ MONDO:0012669 Legius syndrome MONDO:0019289 Orphanet:137605 Orphanet:79375 hyper MONDO:0012683 pontocerebellar hypoplasia type 6 MONDO:0020135 Orphanet:166073 Orphanet:98523 pontocerebellar hypoplasia MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:0015152 Orphanet:206554 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia MONDO:0015827 Orphanet:93610 Orphanet:18 distal renal tubular acidosis +MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0016295 Orphanet:263516 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0020074 Orphanet:263516 Orphanet:98261 progressive myoclonus epilepsy MONDO:0012725 lipoprotein glomerulopathy MONDO:0015905 Orphanet:329481 Orphanet:181437 syndromic dyslipidemia MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome MONDO:0015168 Orphanet:53696 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0012755 episodic ataxia type 7 MONDO:0016227 Orphanet:209970 Orphanet:211062 hereditary episodic ataxia @@ -1849,7 +1833,6 @@ MONDO:0013058 cystic leukoencephalopathy without megalencephaly MONDO:0019046 Or MONDO:0013060 autosomal recessive Parkinson disease 14 MONDO:0017998 Orphanet:199351 Orphanet:329303 PLA2G6-associated neurodegeneration MONDO:0013061 myofibrillar myopathy 6 MONDO:0018943 Orphanet:199340 Orphanet:593 myofibrillar myopathy MONDO:0013074 encephalocraniocutaneous lipomatosis MONDO:0019296 Orphanet:2396 Orphanet:79382 subcutaneous tissue disorder -MONDO:0013081 lymphoproliferative syndrome 1 MONDO:0016537 Orphanet:538963 Orphanet:238510 lymphoproliferative syndrome MONDO:0013090 chromosome 19q13.11 deletion syndrome MONDO:0015159 Orphanet:217346 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013090 chromosome 19q13.11 deletion syndrome MONDO:0016917 Orphanet:217346 Orphanet:262155 partial deletion of the long arm of chromosome 19 MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0017313 Orphanet:217382 Orphanet:285657 disorder of folate metabolism and transport @@ -2282,7 +2265,6 @@ MONDO:0015093 sub-cortical nodular heterotopia MONDO:0016292 Orphanet:101029 Orp MONDO:0015094 subependymal nodular heterotopia MONDO:0016292 Orphanet:101030 Orphanet:2149 nodular neuronal heterotopia MONDO:0015097 aortic valve dysplasia MONDO:0017735 Orphanet:101043 Orphanet:3093 congenital aortic valve stenosis MONDO:0015099 unilateral hemispheric polymicrogyria MONDO:0017092 Orphanet:101071 Orphanet:268943 unilateral polymicrogyria -MONDO:0015100 aregenerative anemia MONDO:0019453 Orphanet:101096 Orphanet:86836 myelodysplastic syndrome with multilineage dysplasia MONDO:0015101 Marin-Amat syndrome MONDO:0007946 Orphanet:101104 Orphanet:91412 jaw-winking syndrome MONDO:0015103 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome MONDO:0020064 Orphanet:101206 Orphanet:982 pulmonary valve agenesis MONDO:0015109 congenital anomaly of the mitral subvalvular apparatus MONDO:0019817 Orphanet:101932 Orphanet:95464 congenital mitral valve insufficiency and/or stenosis @@ -2398,12 +2380,8 @@ MONDO:0015406 cerebrofacial arteriovenous metameric syndrome type 1 MONDO:001540 MONDO:0015407 cerebrofacial arteriovenous metameric syndrome type 3 MONDO:0015405 Orphanet:141199 Orphanet:141189 cerebrofacial arteriovenous metameric syndrome MONDO:0015408 diffuse lymphatic malformation MONDO:0002013 Orphanet:141209 Orphanet:2415 lymphangioma MONDO:0015410 nasal dorsum fistula/cyst MONDO:0015476 Orphanet:141219 Orphanet:155835 cysts and fistulae of the face and oral cavity -MONDO:0015421 orofaciodigital syndrome type 12 MONDO:0015375 Orphanet:141327 Orphanet:140997 orofaciodigital syndrome -MONDO:0015422 orofaciodigital syndrome type 13 MONDO:0015375 Orphanet:141330 Orphanet:140997 orofaciodigital syndrome MONDO:0015427 paroxysmal dyskinesia MONDO:0016058 Orphanet:1431 Orphanet:200037 paroxysmal dystonia MONDO:0015428 choroidal atrophy-alopecia syndrome MONDO:0019287 Orphanet:1433 Orphanet:79373 ectodermal dysplasia syndrome -MONDO:0015445 autosomal dominant coarctation of aorta MONDO:0007345 Orphanet:1455 Orphanet:1457 aorta coarctation -MONDO:0015446 atypical coarctation of aorta MONDO:0007345 Orphanet:1456 Orphanet:1457 aorta coarctation MONDO:0015447 differentiated thyroid carcinoma MONDO:0015075 Orphanet:146 Orphanet:100088 thyroid gland carcinoma MONDO:0015449 criss-cross heart MONDO:0019512 Orphanet:1461 Orphanet:88991 congenital heart malformation MONDO:0015451 univentricular heart MONDO:0019820 Orphanet:1464 Orphanet:95483 univentricular cardiopathy @@ -2771,7 +2749,6 @@ MONDO:0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M MONDO:00189 MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome MONDO:0015159 Orphanet:2282 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016450 autoimmune hemolytic anemia, cold type MONDO:0020108 Orphanet:228312 Orphanet:98375 autoimmune hemolytic anemia MONDO:0016453 foodborne botulism MONDO:0005498 Orphanet:228371 Orphanet:1267 botulism -MONDO:0016456 5q14.3 microdeletion syndrome MONDO:0015159 Orphanet:228384 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016456 5q14.3 microdeletion syndrome MONDO:0016904 Orphanet:228384 Orphanet:262038 partial deletion of the long arm of chromosome 5 MONDO:0016458 8q12 microduplication syndrome MONDO:0016959 Orphanet:228399 Orphanet:262896 partial duplication of the long arm of chromosome 8 MONDO:0016459 2q23.1 microdeletion syndrome MONDO:0016901 Orphanet:228402 Orphanet:262010 partial deletion of the long arm of chromosome 2 @@ -3098,7 +3075,6 @@ MONDO:0017227 autoimmune pancreatitis type 1 MONDO:0015175 Orphanet:280302 Orpha MONDO:0017228 autoimmune pancreatitis type 2 MONDO:0015175 Orphanet:280315 Orphanet:103919 autoimmune pancreatitis MONDO:0017229 distal monosomy 12p MONDO:0022174 Orphanet:280325 Orphanet:316244 chromosome 12p deletion MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy MONDO:0020088 Orphanet:280365 Orphanet:98306 familial partial lipodystrophy -MONDO:0017231 erythropoietic uroporphyria associated with myeloid malignancy MONDO:0019142 Orphanet:280379 Orphanet:738 inherited porphyria MONDO:0017238 hemoglobinopathy Toms River MONDO:0019050 Orphanet:280615 Orphanet:68364 inherited hemoglobinopathy MONDO:0017242 cutaneous collagenous vasculopathy MONDO:0019293 Orphanet:280779 Orphanet:79379 skin vascular disease MONDO:0017243 bullous diffuse cutaneous mastocytosis MONDO:0019315 Orphanet:280785 Orphanet:79456 diffuse cutaneous mastocytosis @@ -3207,10 +3183,6 @@ MONDO:0017544 zygodactyly type 3 MONDO:0008512 Orphanet:295191 Orphanet:93402 sy MONDO:0017545 zygodactyly type 4 MONDO:0008512 Orphanet:295193 Orphanet:93402 syndactyly type 1 MONDO:0017546 congenital vertical talus, unilateral MONDO:0008652 Orphanet:295201 Orphanet:178382 congenital vertical talus MONDO:0017547 congenital vertical talus, bilateral MONDO:0008652 Orphanet:295203 Orphanet:178382 congenital vertical talus -MONDO:0017552 humero-ulnar synostosis, unilateral MONDO:0019782 Orphanet:295213 Orphanet:94056 humero-ulnar synostosis -MONDO:0017553 humero-ulnar synostosis, bilateral MONDO:0019782 Orphanet:295215 Orphanet:94056 humero-ulnar synostosis -MONDO:0017554 radio-ulnar synostosis, unilateral MONDO:0017985 Orphanet:295217 Orphanet:3269 congenital radioulnar synostosis -MONDO:0017555 radio-ulnar synostosis, bilateral MONDO:0017985 Orphanet:295219 Orphanet:3269 congenital radioulnar synostosis MONDO:0017558 congenital elbow dislocation, unilateral MONDO:0017469 Orphanet:295225 Orphanet:295032 congenital elbow dislocation MONDO:0017559 congenital elbow dislocation, bilateral MONDO:0017469 Orphanet:295227 Orphanet:295032 congenital elbow dislocation MONDO:0017560 congenital genu recurvatum MONDO:0017470 Orphanet:295229 Orphanet:295034 congenital knee dislocation @@ -3220,7 +3192,6 @@ MONDO:0017565 macrodactyly of fingers, bilateral MONDO:0017474 Orphanet:295241 O MONDO:0017566 macrodactyly of toes, unilateral MONDO:0017475 Orphanet:295243 Orphanet:295047 macrodactyly of toes MONDO:0017567 macrodactyly of toes, bilateral MONDO:0017475 Orphanet:295245 Orphanet:295047 macrodactyly of toes MONDO:0017569 de Barsy syndrome MONDO:0019303 Orphanet:2962 Orphanet:79389 premature aging syndrome -MONDO:0017570 leukocyte adhesion deficiency MONDO:0015978 Orphanet:2968 Orphanet:183681 functional neutrophil defect MONDO:0017571 Proteus-like syndrome MONDO:0017623 Orphanet:2969 Orphanet:306498 PTEN hamartoma tumor syndrome MONDO:0017572 tick-borne encephalitis MONDO:0006009 Orphanet:297 Orphanet:98252 viral encephalitis MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy MONDO:0009637 Orphanet:298 Orphanet:206966 inborn mitochondrial myopathy @@ -3400,7 +3371,6 @@ MONDO:0017936 benign Samaritan congenital myopathy MONDO:0019952 Orphanet:324581 MONDO:0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain MONDO:0019548 Orphanet:324585 Orphanet:90114 autosomal dominant intermediate Charcot-Marie-Tooth disease MONDO:0017939 classic multiminicore myopathy MONDO:0018948 Orphanet:324604 Orphanet:598 multiminicore myopathy MONDO:0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation MONDO:0018993 Orphanet:324611 Orphanet:64746 Charcot-Marie-Tooth disease type 2 -MONDO:0017941 chikungunya MONDO:0018093 Orphanet:324625 Orphanet:344 arbovirus fever MONDO:0017944 invasive non-typhoidal salmonellosis MONDO:0000827 Orphanet:324648 Orphanet:795 salmonellosis MONDO:0017951 trichorhinophalangeal syndrome MONDO:0019287 Orphanet:324764 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0017951 trichorhinophalangeal syndrome MONDO:0019695 Orphanet:324764 Orphanet:93436 acromelic dysplasia @@ -3408,7 +3378,6 @@ MONDO:0017953 hereditary periodic fever syndrome MONDO:0015137 Orphanet:324924 O MONDO:0017972 classic congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0008725 Orphanet:325524 Orphanet:90790 congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0008725 Orphanet:325529 Orphanet:90790 congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0017975 sex chromosome disorder of sex development MONDO:0002145 Orphanet:325546 Orphanet:90771 disorder of sexual differentiation -MONDO:0017979 autoimmune lymphoproliferative syndrome MONDO:0016537 Orphanet:3261 Orphanet:238510 lymphoproliferative syndrome MONDO:0017991 Takayasu arteritis MONDO:0015236 Orphanet:99079 Orphanet:1132 aortic arch defects MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome MONDO:0015159 Orphanet:3293 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017998 PLA2G6-associated neurodegeneration MONDO:0018307 Orphanet:329303 Orphanet:385 neurodegeneration with brain iron accumulation @@ -3916,12 +3885,6 @@ MONDO:0019254 inborn disorder of purine or pyrimidine metabolism MONDO:0019052 O MONDO:0019256 sterol metabolism disorder MONDO:0002525 Orphanet:79226 Orphanet:309005 inherited lipid metabolism disorder MONDO:0019258 mild phenylketonuria MONDO:0009861 Orphanet:79253 Orphanet:716 phenylketonuria MONDO:0019259 classic phenylketonuria MONDO:0009861 Orphanet:79254 Orphanet:716 phenylketonuria -MONDO:0019260 adult neuronal ceroid lipofuscinosis MONDO:0016295 Orphanet:79262 Orphanet:216 neuronal ceroid lipofuscinosis -MONDO:0019260 adult neuronal ceroid lipofuscinosis MONDO:0020143 Orphanet:79262 Orphanet:98544 cerebral lipidosis with dementia -MONDO:0019261 infantile neuronal ceroid lipofuscinosis MONDO:0016295 Orphanet:79263 Orphanet:216 neuronal ceroid lipofuscinosis -MONDO:0019261 infantile neuronal ceroid lipofuscinosis MONDO:0020143 Orphanet:79263 Orphanet:98544 cerebral lipidosis with dementia -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis MONDO:0016295 Orphanet:79264 Orphanet:216 neuronal ceroid lipofuscinosis -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis MONDO:0020143 Orphanet:79264 Orphanet:98544 cerebral lipidosis with dementia MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 MONDO:0017779 Orphanet:79281 Orphanet:3137 alpha-N-acetylgalactosaminidase deficiency MONDO:0019265 diazoxide-resistant focal hyperinsulinism MONDO:0017186 Orphanet:79298 Orphanet:276585 diazoxide-resistant hyperinsulinism MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- MONDO:0009612 Orphanet:79312 Orphanet:27 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency @@ -3971,6 +3934,7 @@ MONDO:0019388 pelvis syndrome MONDO:0015161 Orphanet:83628 Orphanet:102285 multi MONDO:0019391 Fanconi anemia MONDO:0001713 Orphanet:84 Orphanet:68383 inherited aplastic anemia MONDO:0019391 Fanconi anemia MONDO:0015161 Orphanet:84 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0019393 idiopathic malabsorption due to bile acid synthesis defects MONDO:0019218 Orphanet:84065 Orphanet:79168 inborn disorder of bile acid synthesis +MONDO:0019396 collagen type III glomerulopathy MONDO:0019722 Orphanet:84087 Orphanet:93548 glomerular disorder MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions MONDO:0016112 Orphanet:84132 Orphanet:206662 hereditary inclusion-body myopathy MONDO:0019402 beta thalassemia MONDO:0017145 Orphanet:848 Orphanet:275749 beta-thalassemia and related diseases MONDO:0019404 perineurioma MONDO:0016749 Orphanet:85102 Orphanet:252057 tumor of cranial and spinal nerves @@ -4077,6 +4041,7 @@ MONDO:0019583 localized lichen myxedematosus with mixed features of different su MONDO:0019584 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms MONDO:0019447 Orphanet:90399 Orphanet:86797 atypical lichen myxedematosus MONDO:0019585 scleromyxedema without monoclonal gammopathy MONDO:0019447 Orphanet:90400 Orphanet:86797 atypical lichen myxedematosus MONDO:0019600 xeroderma pigmentosum MONDO:0015951 Orphanet:910 Orphanet:183490 hereditary photodermatosis +MONDO:0019605 immunotactoid or fibrillary glomerulopathy MONDO:0019722 Orphanet:91137 Orphanet:93548 glomerular disorder MONDO:0019607 unspecified juvenile idiopathic arthritis MONDO:0011429 Orphanet:91140 Orphanet:92 juvenile idiopathic arthritis MONDO:0019609 Zellweger spectrum disorders MONDO:0015327 Orphanet:912 Orphanet:139009 developmental anomaly of metabolic origin MONDO:0019609 Zellweger spectrum disorders MONDO:0019234 Orphanet:912 Orphanet:79189 peroxisome biogenesis disorder @@ -4318,7 +4283,6 @@ MONDO:0020361 partial cryptophthalmia MONDO:0007410 Orphanet:98950 Orphanet:9139 MONDO:0020362 inverse Marcus-Gunn phenomenon MONDO:0007946 Orphanet:98951 Orphanet:91412 jaw-winking syndrome MONDO:0020363 honey-droplet corneal dystrophy MONDO:0020212 Orphanet:98958 Orphanet:98625 superficial corneal dystrophy MONDO:0020364 posterior polymorphous corneal dystrophy MONDO:0020214 Orphanet:98973 Orphanet:98627 posterior corneal dystrophy -MONDO:0020365 congenital hereditary endothelial dystrophy type I MONDO:0020214 Orphanet:98975 Orphanet:98627 posterior corneal dystrophy MONDO:0020369 Chandler syndrome MONDO:0018988 Orphanet:98979 Orphanet:64734 iridocorneal endothelial syndrome MONDO:0020370 Cogan-Reese syndrome MONDO:0018988 Orphanet:98980 Orphanet:64734 iridocorneal endothelial syndrome MONDO:0020371 essential iris atrophy MONDO:0018988 Orphanet:98981 Orphanet:64734 iridocorneal endothelial syndrome @@ -4399,7 +4363,6 @@ MONDO:0020496 familial porencephaly MONDO:0017410 Orphanet:99810 Orphanet:2940 p MONDO:0020497 Turcot syndrome with polyposis MONDO:0021055 Orphanet:99818 Orphanet:733 classic familial adenomatous polyposis MONDO:0020500 Marburg hemorrhagic fever MONDO:0018087 Orphanet:99826 Orphanet:341 viral hemorrhagic fever MONDO:0020501 Crimean-Congo hemorrhagic fever MONDO:0018087 Orphanet:99827 Orphanet:341 viral hemorrhagic fever -MONDO:0020502 yellow fever MONDO:0018093 Orphanet:99829 Orphanet:344 arbovirus fever MONDO:0020505 ravine syndrome MONDO:0019046 Orphanet:99852 Orphanet:68356 leukodystrophy MONDO:0020507 leukoencephalopathy with vanishing white matter 1 MONDO:0800448 Orphanet:99854 Orphanet:135 leukoencephalopathy with vanishing white matter MONDO:0020508 primary syringomyelia MONDO:0017987 Orphanet:99856 Orphanet:3280 syringomyelia @@ -4425,7 +4388,6 @@ MONDO:0020547 chronic graft versus host disease MONDO:0013730 Orphanet:99921 Orp MONDO:0020549 invasive hydatidiform mole MONDO:0018944 Orphanet:99925 Orphanet:59305 gestational trophoblastic neoplasm MONDO:0020550 gestational choriocarcinoma MONDO:0018944 Orphanet:99926 Orphanet:59305 gestational trophoblastic neoplasm MONDO:0020552 placental site trophoblastic tumor MONDO:0018944 Orphanet:99928 Orphanet:59305 gestational trophoblastic neoplasm -MONDO:0020554 Heiner syndrome MONDO:0020553 Orphanet:99932 Orphanet:99930 secondary pulmonary hemosiderosis MONDO:0020555 pleuropulmonary blastoma type 1 MONDO:0011014 Orphanet:99933 Orphanet:64742 pleuropulmonary blastoma MONDO:0020556 pleuropulmonary blastoma type 2 MONDO:0011014 Orphanet:99934 Orphanet:64742 pleuropulmonary blastoma MONDO:0020557 pleuropulmonary blastoma type 3 MONDO:0011014 Orphanet:99935 Orphanet:64742 pleuropulmonary blastoma @@ -4511,7 +4473,6 @@ MONDO:0033948 acquired angioedema with C1Inh deficiency MONDO:0019624 Orphanet:5 MONDO:0033980 RELA fusion-positive ependymoma MONDO:0003266 Orphanet:530792 Orphanet:301 ependymal tumor MONDO:0034021 spondylodysplastic Ehlers-Danlos syndrome MONDO:0020066 Orphanet:536471 Orphanet:98249 Ehlers-Danlos syndrome MONDO:0034022 Bethlem myopathy 2 MONDO:0020066 Orphanet:536516 Orphanet:98249 Ehlers-Danlos syndrome -MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency MONDO:0016537 Orphanet:538958 Orphanet:238510 lymphoproliferative syndrome MONDO:0034099 SYNGAP1-related developmental and epileptic encephalopathy MONDO:0020071 Orphanet:544254 Orphanet:98258 infantile epilepsy syndrome MONDO:0034103 infection-related hemolytic uremic syndrome MONDO:0001549 Orphanet:544482 Orphanet:544458 hemolytic-uremic syndrome MONDO:0034106 developmental and epileptic encephalopathy, 73 MONDO:0015159 Orphanet:544503 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -4565,8 +4526,6 @@ MONDO:0035663 neuromyelitis optica spectrum disorder with anti-AQP4 antibodies M MONDO:0035664 neuromyelitis optica spectrum disorder with anti-MOG antibodies MONDO:0019100 Orphanet:592856 Orphanet:71211 neuromyelitis optica MONDO:0035665 neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies MONDO:0019100 Orphanet:592869 Orphanet:71211 neuromyelitis optica MONDO:0035666 acute transverse myelitis with anti-MOG antibodies MONDO:0015342 Orphanet:592873 Orphanet:139417 acute transverse myelitis -MONDO:0035667 isolated optic neuritis without anti-MOG antibodies MONDO:0044688 Orphanet:592885 Orphanet:499096 isolated optic neuritis -MONDO:0035668 isolated optic neuritis with anti-MOG antibodies MONDO:0044688 Orphanet:592888 Orphanet:499096 isolated optic neuritis MONDO:0035669 acute disseminated encephalomyelitis with anti-MOG antibodies MONDO:0019383 Orphanet:592894 Orphanet:83597 acute disseminated encephalomyelitis MONDO:0035670 acute disseminated encephalomyelitis without anti-MOG antibodies MONDO:0019383 Orphanet:592900 Orphanet:83597 acute disseminated encephalomyelitis MONDO:0035696 incomplete septal cirrhosis MONDO:0035357 Orphanet:596941 Orphanet:596937 portosinusoidal vascular disease @@ -4621,7 +4580,6 @@ MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spina MONDO:0044656 epidermolytic nevus MONDO:0017266 Orphanet:497737 Orphanet:281103 keratinopathic ichthyosis MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 MONDO:0018993 Orphanet:497757 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0044682 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome MONDO:0015168 Orphanet:498693 Orphanet:1037 arthrogryposis multiplex congenita -MONDO:0044687 chronic relapsing inflammatory optic neuropathy MONDO:0044685 Orphanet:499085 Orphanet:499047 autoimmune/inflammatory optic neuropathy MONDO:0044688 isolated optic neuritis MONDO:0044685 Orphanet:499096 Orphanet:499047 autoimmune/inflammatory optic neuropathy MONDO:0044689 recurrent idiopathic neuroretinitis MONDO:0044685 Orphanet:499103 Orphanet:499047 autoimmune/inflammatory optic neuropathy MONDO:0044690 optic perineuritis MONDO:0044685 Orphanet:499107 Orphanet:499047 autoimmune/inflammatory optic neuropathy @@ -4681,7 +4639,6 @@ MONDO:0800043 Stüve-Wiedemann syndrome 1 MONDO:0019698 Orphanet:3206 Orphanet:9 MONDO:0800448 leukoencephalopathy with vanishing white matter MONDO:0019046 Orphanet:135 Orphanet:68356 leukodystrophy MONDO:0800449 lysosomal acid lipase deficiency MONDO:0015905 Orphanet:275761 Orphanet:181437 syndromic dyslipidemia MONDO:0800449 lysosomal acid lipase deficiency MONDO:0019245 Orphanet:275761 Orphanet:79204 lysosomal lipid storage disorder -MONDO:0850001 congenital neuronal ceroid lipofuscinosis MONDO:0016295 Orphanet:168486 Orphanet:216 neuronal ceroid lipofuscinosis MONDO:0850064 inherited hematologic cancer-predisposing syndrome MONDO:0015356 Orphanet:619340 Orphanet:140162 hereditary neoplastic syndrome MONDO:0850072 non-syndromic unisutural craniosynostosis MONDO:0015337 Orphanet:620096 Orphanet:139390 isolated craniosynostosis MONDO:0850097 autoimmune limbic encephalitis MONDO:0020640 Orphanet:623615 Orphanet:622014 autoimmune encephalitis diff --git a/src/ontology/reports/ordo_exclusion_reasons.robot.template.tsv b/src/ontology/reports/ordo_exclusion_reasons.robot.template.tsv index 18b1c8ca..7056f75f 100644 --- a/src/ontology/reports/ordo_exclusion_reasons.robot.template.tsv +++ b/src/ontology/reports/ordo_exclusion_reasons.robot.template.tsv @@ -74,9 +74,7 @@ Orphanet:231230 MONDO:excludeComplication Orphanet:231386 MONDO:excludeComplication Orphanet:232288 MONDO:excludeComplication Orphanet:235936 MONDO:excludeComplication -Orphanet:238510 MONDO:excludeComplication Orphanet:238517 MONDO:excludeComplication -Orphanet:2442 MONDO:excludeComplication Orphanet:244275 MONDO:excludeComplication Orphanet:247 MONDO:excludeComplication Orphanet:251355 MONDO:excludeComplication @@ -105,7 +103,6 @@ Orphanet:264968 MONDO:excludeComplication Orphanet:264973 MONDO:excludeComplication Orphanet:264984 MONDO:excludeComplication Orphanet:268316 MONDO:excludeComplication -Orphanet:271861 MONDO:excludeComplication Orphanet:275745 MONDO:excludeComplication Orphanet:275749 MONDO:excludeComplication Orphanet:275752 MONDO:excludeComplication @@ -164,7 +161,6 @@ Orphanet:425368 MONDO:excludeComplication Orphanet:42738 MONDO:excludeComplication Orphanet:435365 MONDO:excludeComplication Orphanet:435743 MONDO:excludeComplication -Orphanet:439246 MONDO:excludeComplication Orphanet:439849 MONDO:excludeComplication Orphanet:443090 MONDO:excludeComplication Orphanet:444941 MONDO:excludeComplication @@ -202,9 +198,9 @@ Orphanet:567562 MONDO:excludeComplication Orphanet:567564 MONDO:excludeComplication Orphanet:618899 MONDO:excludeComplication Orphanet:648569 MONDO:excludeComplication +Orphanet:664482 MONDO:excludeComplication Orphanet:68364 MONDO:excludeComplication Orphanet:68383 MONDO:excludeComplication -Orphanet:69 MONDO:excludeComplication Orphanet:73014 MONDO:excludeComplication Orphanet:73217 MONDO:excludeComplication Orphanet:79188 MONDO:excludeComplication @@ -225,6 +221,7 @@ Orphanet:92 MONDO:excludeComplication Orphanet:93546 MONDO:excludeComplication Orphanet:93547 MONDO:excludeComplication Orphanet:93548 MONDO:excludeComplication +Orphanet:95157 MONDO:excludeComplication Orphanet:96346 MONDO:excludeComplication Orphanet:97945 MONDO:excludeComplication Orphanet:98086 MONDO:excludeComplication @@ -1128,7 +1125,6 @@ Orphanet:121062 MONDO:excludeNonDisease Orphanet:121066 MONDO:excludeNonDisease Orphanet:121069 MONDO:excludeNonDisease Orphanet:121073 MONDO:excludeNonDisease -Orphanet:121089 MONDO:excludeNonDisease Orphanet:121091 MONDO:excludeNonDisease Orphanet:121098 MONDO:excludeNonDisease Orphanet:121102 MONDO:excludeNonDisease @@ -1621,7 +1617,6 @@ Orphanet:123245 MONDO:excludeNonDisease Orphanet:123253 MONDO:excludeNonDisease Orphanet:123257 MONDO:excludeNonDisease Orphanet:123263 MONDO:excludeNonDisease -Orphanet:123269 MONDO:excludeNonDisease Orphanet:123271 MONDO:excludeNonDisease Orphanet:123279 MONDO:excludeNonDisease Orphanet:123290 MONDO:excludeNonDisease @@ -1872,6 +1867,7 @@ Orphanet:138530 MONDO:excludeNonDisease Orphanet:138533 MONDO:excludeNonDisease Orphanet:138543 MONDO:excludeNonDisease Orphanet:138557 MONDO:excludeNonDisease +Orphanet:138561 MONDO:excludeNonDisease Orphanet:138568 MONDO:excludeNonDisease Orphanet:138570 MONDO:excludeNonDisease Orphanet:138575 MONDO:excludeNonDisease @@ -1971,7 +1967,6 @@ Orphanet:159075 MONDO:excludeNonDisease Orphanet:159080 MONDO:excludeNonDisease Orphanet:159084 MONDO:excludeNonDisease Orphanet:159087 MONDO:excludeNonDisease -Orphanet:159118 MONDO:excludeNonDisease Orphanet:159122 MONDO:excludeNonDisease Orphanet:159134 MONDO:excludeNonDisease Orphanet:159137 MONDO:excludeNonDisease @@ -2223,7 +2218,6 @@ Orphanet:169953 MONDO:excludeNonDisease Orphanet:169957 MONDO:excludeNonDisease Orphanet:169960 MONDO:excludeNonDisease Orphanet:171034 MONDO:excludeNonDisease -Orphanet:171038 MONDO:excludeNonDisease Orphanet:171045 MONDO:excludeNonDisease Orphanet:171050 MONDO:excludeNonDisease Orphanet:171052 MONDO:excludeNonDisease @@ -3227,7 +3221,6 @@ Orphanet:353369 MONDO:excludeNonDisease Orphanet:353372 MONDO:excludeNonDisease Orphanet:353460 MONDO:excludeNonDisease Orphanet:353497 MONDO:excludeNonDisease -Orphanet:353516 MONDO:excludeNonDisease Orphanet:353524 MONDO:excludeNonDisease Orphanet:353548 MONDO:excludeNonDisease Orphanet:353576 MONDO:excludeNonDisease @@ -3426,7 +3419,6 @@ Orphanet:377662 MONDO:excludeNonDisease Orphanet:377672 MONDO:excludeNonDisease Orphanet:377682 MONDO:excludeNonDisease Orphanet:377743 MONDO:excludeNonDisease -Orphanet:377752 MONDO:excludeNonDisease Orphanet:390741 MONDO:excludeNonDisease Orphanet:390746 MONDO:excludeNonDisease Orphanet:390756 MONDO:excludeNonDisease @@ -3861,7 +3853,6 @@ Orphanet:456808 MONDO:excludeNonDisease Orphanet:456826 MONDO:excludeNonDisease Orphanet:456828 MONDO:excludeNonDisease Orphanet:456982 MONDO:excludeNonDisease -Orphanet:456990 MONDO:excludeNonDisease Orphanet:456998 MONDO:excludeNonDisease Orphanet:457009 MONDO:excludeNonDisease Orphanet:457065 MONDO:excludeNonDisease @@ -3879,7 +3870,6 @@ Orphanet:457562 MONDO:excludeNonDisease Orphanet:457568 MONDO:excludeNonDisease Orphanet:457570 MONDO:excludeNonDisease Orphanet:457585 MONDO:excludeNonDisease -Orphanet:457688 MONDO:excludeNonDisease Orphanet:457735 MONDO:excludeNonDisease Orphanet:458247 MONDO:excludeNonDisease Orphanet:458253 MONDO:excludeNonDisease @@ -3965,6 +3955,7 @@ Orphanet:469930 MONDO:excludeNonDisease Orphanet:469932 MONDO:excludeNonDisease Orphanet:469946 MONDO:excludeNonDisease Orphanet:469950 MONDO:excludeNonDisease +Orphanet:469958 MONDO:excludeNonDisease Orphanet:469962 MONDO:excludeNonDisease Orphanet:469968 MONDO:excludeNonDisease Orphanet:469974 MONDO:excludeNonDisease @@ -3980,27 +3971,28 @@ Orphanet:470040 MONDO:excludeNonDisease Orphanet:470042 MONDO:excludeNonDisease Orphanet:470052 MONDO:excludeNonDisease Orphanet:470056 MONDO:excludeNonDisease +Orphanet:470064 MONDO:excludeNonDisease Orphanet:470084 MONDO:excludeNonDisease Orphanet:470086 MONDO:excludeNonDisease Orphanet:470098 MONDO:excludeNonDisease Orphanet:470102 MONDO:excludeNonDisease +Orphanet:470116 MONDO:excludeNonDisease Orphanet:470128 MONDO:excludeNonDisease Orphanet:470140 MONDO:excludeNonDisease Orphanet:470146 MONDO:excludeNonDisease Orphanet:470150 MONDO:excludeNonDisease Orphanet:470152 MONDO:excludeNonDisease -Orphanet:470170 MONDO:excludeNonDisease Orphanet:470180 MONDO:excludeNonDisease Orphanet:470184 MONDO:excludeNonDisease Orphanet:470200 MONDO:excludeNonDisease Orphanet:470204 MONDO:excludeNonDisease Orphanet:470220 MONDO:excludeNonDisease -Orphanet:470228 MONDO:excludeNonDisease Orphanet:470234 MONDO:excludeNonDisease Orphanet:470266 MONDO:excludeNonDisease Orphanet:470272 MONDO:excludeNonDisease Orphanet:470274 MONDO:excludeNonDisease Orphanet:470286 MONDO:excludeNonDisease +Orphanet:470292 MONDO:excludeNonDisease Orphanet:470322 MONDO:excludeNonDisease Orphanet:470342 MONDO:excludeNonDisease Orphanet:470348 MONDO:excludeNonDisease @@ -4042,6 +4034,7 @@ Orphanet:470698 MONDO:excludeNonDisease Orphanet:470718 MONDO:excludeNonDisease Orphanet:470720 MONDO:excludeNonDisease Orphanet:470722 MONDO:excludeNonDisease +Orphanet:470724 MONDO:excludeNonDisease Orphanet:470736 MONDO:excludeNonDisease Orphanet:470748 MONDO:excludeNonDisease Orphanet:470768 MONDO:excludeNonDisease @@ -4049,6 +4042,7 @@ Orphanet:470770 MONDO:excludeNonDisease Orphanet:470780 MONDO:excludeNonDisease Orphanet:470800 MONDO:excludeNonDisease Orphanet:470810 MONDO:excludeNonDisease +Orphanet:470826 MONDO:excludeNonDisease Orphanet:470828 MONDO:excludeNonDisease Orphanet:470872 MONDO:excludeNonDisease Orphanet:470874 MONDO:excludeNonDisease @@ -4060,6 +4054,7 @@ Orphanet:470934 MONDO:excludeNonDisease Orphanet:470948 MONDO:excludeNonDisease Orphanet:470980 MONDO:excludeNonDisease Orphanet:470984 MONDO:excludeNonDisease +Orphanet:470992 MONDO:excludeNonDisease Orphanet:470996 MONDO:excludeNonDisease Orphanet:470998 MONDO:excludeNonDisease Orphanet:471000 MONDO:excludeNonDisease @@ -4074,7 +4069,7 @@ Orphanet:471062 MONDO:excludeNonDisease Orphanet:471070 MONDO:excludeNonDisease Orphanet:471072 MONDO:excludeNonDisease Orphanet:471076 MONDO:excludeNonDisease -Orphanet:471078 MONDO:excludeNonDisease +Orphanet:471090 MONDO:excludeNonDisease Orphanet:471096 MONDO:excludeNonDisease Orphanet:471110 MONDO:excludeNonDisease Orphanet:471112 MONDO:excludeNonDisease @@ -4094,6 +4089,7 @@ Orphanet:471214 MONDO:excludeNonDisease Orphanet:471224 MONDO:excludeNonDisease Orphanet:471232 MONDO:excludeNonDisease Orphanet:471234 MONDO:excludeNonDisease +Orphanet:471244 MONDO:excludeNonDisease Orphanet:471250 MONDO:excludeNonDisease Orphanet:471260 MONDO:excludeNonDisease Orphanet:471262 MONDO:excludeNonDisease @@ -4114,7 +4110,6 @@ Orphanet:474406 MONDO:excludeNonDisease Orphanet:474419 MONDO:excludeNonDisease Orphanet:474429 MONDO:excludeNonDisease Orphanet:474467 MONDO:excludeNonDisease -Orphanet:474489 MONDO:excludeNonDisease Orphanet:475300 MONDO:excludeNonDisease Orphanet:476149 MONDO:excludeNonDisease Orphanet:476167 MONDO:excludeNonDisease @@ -4264,6 +4259,7 @@ Orphanet:494241 MONDO:excludeNonDisease Orphanet:494252 MONDO:excludeNonDisease Orphanet:494881 MONDO:excludeNonDisease Orphanet:494894 MONDO:excludeNonDisease +Orphanet:494899 MONDO:excludeNonDisease Orphanet:494915 MONDO:excludeNonDisease Orphanet:494919 MONDO:excludeNonDisease Orphanet:494927 MONDO:excludeNonDisease @@ -4325,7 +4321,6 @@ Orphanet:505586 MONDO:excludeNonDisease Orphanet:505596 MONDO:excludeNonDisease Orphanet:505623 MONDO:excludeNonDisease Orphanet:505829 MONDO:excludeNonDisease -Orphanet:506368 MONDO:excludeNonDisease Orphanet:506401 MONDO:excludeNonDisease Orphanet:506519 MONDO:excludeNonDisease Orphanet:507587 MONDO:excludeNonDisease @@ -4344,6 +4339,7 @@ Orphanet:508071 MONDO:excludeNonDisease Orphanet:508638 MONDO:excludeNonDisease Orphanet:508692 MONDO:excludeNonDisease Orphanet:508711 MONDO:excludeNonDisease +Orphanet:508946 MONDO:excludeNonDisease Orphanet:508970 MONDO:excludeNonDisease Orphanet:508976 MONDO:excludeNonDisease Orphanet:509002 MONDO:excludeNonDisease @@ -4360,6 +4356,7 @@ Orphanet:509234 MONDO:excludeNonDisease Orphanet:509236 MONDO:excludeNonDisease Orphanet:509258 MONDO:excludeNonDisease Orphanet:509260 MONDO:excludeNonDisease +Orphanet:509262 MONDO:excludeNonDisease Orphanet:509296 MONDO:excludeNonDisease Orphanet:509298 MONDO:excludeNonDisease Orphanet:509320 MONDO:excludeNonDisease @@ -4376,6 +4373,7 @@ Orphanet:510896 MONDO:excludeNonDisease Orphanet:512271 MONDO:excludeNonDisease Orphanet:512453 MONDO:excludeNonDisease Orphanet:512465 MONDO:excludeNonDisease +Orphanet:512501 MONDO:excludeNonDisease Orphanet:512553 MONDO:excludeNonDisease Orphanet:513401 MONDO:excludeNonDisease Orphanet:513418 MONDO:excludeNonDisease @@ -4384,7 +4382,6 @@ Orphanet:513968 MONDO:excludeNonDisease Orphanet:513988 MONDO:excludeNonDisease Orphanet:514000 MONDO:excludeNonDisease Orphanet:514006 MONDO:excludeNonDisease -Orphanet:514010 MONDO:excludeNonDisease Orphanet:514012 MONDO:excludeNonDisease Orphanet:514016 MONDO:excludeNonDisease Orphanet:514052 MONDO:excludeNonDisease @@ -4439,6 +4436,7 @@ Orphanet:529292 MONDO:excludeNonDisease Orphanet:529328 MONDO:excludeNonDisease Orphanet:529590 MONDO:excludeNonDisease Orphanet:529620 MONDO:excludeNonDisease +Orphanet:529660 MONDO:excludeNonDisease Orphanet:529710 MONDO:excludeNonDisease Orphanet:529730 MONDO:excludeNonDisease Orphanet:529744 MONDO:excludeNonDisease @@ -4562,6 +4560,7 @@ Orphanet:572348 MONDO:excludeNonDisease Orphanet:572371 MONDO:excludeNonDisease Orphanet:572405 MONDO:excludeNonDisease Orphanet:572412 MONDO:excludeNonDisease +Orphanet:572421 MONDO:excludeNonDisease Orphanet:572477 MONDO:excludeNonDisease Orphanet:572486 MONDO:excludeNonDisease Orphanet:573010 MONDO:excludeNonDisease @@ -4576,6 +4575,7 @@ Orphanet:580928 MONDO:excludeNonDisease Orphanet:580943 MONDO:excludeNonDisease Orphanet:581332 MONDO:excludeNonDisease Orphanet:583333 MONDO:excludeNonDisease +Orphanet:584317 MONDO:excludeNonDisease Orphanet:585329 MONDO:excludeNonDisease Orphanet:585336 MONDO:excludeNonDisease Orphanet:585349 MONDO:excludeNonDisease @@ -4603,6 +4603,7 @@ Orphanet:587138 MONDO:excludeNonDisease Orphanet:587142 MONDO:excludeNonDisease Orphanet:587177 MONDO:excludeNonDisease Orphanet:594386 MONDO:excludeNonDisease +Orphanet:594394 MONDO:excludeNonDisease Orphanet:594424 MONDO:excludeNonDisease Orphanet:594489 MONDO:excludeNonDisease Orphanet:594573 MONDO:excludeNonDisease @@ -4617,6 +4618,7 @@ Orphanet:596998 MONDO:excludeNonDisease Orphanet:597004 MONDO:excludeNonDisease Orphanet:597032 MONDO:excludeNonDisease Orphanet:597034 MONDO:excludeNonDisease +Orphanet:597042 MONDO:excludeNonDisease Orphanet:599070 MONDO:excludeNonDisease Orphanet:599155 MONDO:excludeNonDisease Orphanet:599174 MONDO:excludeNonDisease @@ -4624,7 +4626,6 @@ Orphanet:599181 MONDO:excludeNonDisease Orphanet:599195 MONDO:excludeNonDisease Orphanet:599197 MONDO:excludeNonDisease Orphanet:599199 MONDO:excludeNonDisease -Orphanet:599201 MONDO:excludeNonDisease Orphanet:599209 MONDO:excludeNonDisease Orphanet:599213 MONDO:excludeNonDisease Orphanet:599215 MONDO:excludeNonDisease @@ -4641,6 +4642,7 @@ Orphanet:599932 MONDO:excludeNonDisease Orphanet:600014 MONDO:excludeNonDisease Orphanet:600016 MONDO:excludeNonDisease Orphanet:600062 MONDO:excludeNonDisease +Orphanet:600070 MONDO:excludeNonDisease Orphanet:600094 MONDO:excludeNonDisease Orphanet:600112 MONDO:excludeNonDisease Orphanet:600142 MONDO:excludeNonDisease @@ -4650,19 +4652,25 @@ Orphanet:600209 MONDO:excludeNonDisease Orphanet:600231 MONDO:excludeNonDisease Orphanet:600279 MONDO:excludeNonDisease Orphanet:600291 MONDO:excludeNonDisease +Orphanet:600297 MONDO:excludeNonDisease Orphanet:600313 MONDO:excludeNonDisease Orphanet:600321 MONDO:excludeNonDisease Orphanet:600395 MONDO:excludeNonDisease +Orphanet:600435 MONDO:excludeNonDisease Orphanet:600439 MONDO:excludeNonDisease +Orphanet:600449 MONDO:excludeNonDisease Orphanet:600475 MONDO:excludeNonDisease Orphanet:600529 MONDO:excludeNonDisease Orphanet:600533 MONDO:excludeNonDisease Orphanet:600541 MONDO:excludeNonDisease +Orphanet:600559 MONDO:excludeNonDisease Orphanet:600577 MONDO:excludeNonDisease Orphanet:600633 MONDO:excludeNonDisease Orphanet:600635 MONDO:excludeNonDisease Orphanet:600645 MONDO:excludeNonDisease Orphanet:600655 MONDO:excludeNonDisease +Orphanet:600904 MONDO:excludeNonDisease +Orphanet:600936 MONDO:excludeNonDisease Orphanet:600946 MONDO:excludeNonDisease Orphanet:601404 MONDO:excludeNonDisease Orphanet:601410 MONDO:excludeNonDisease @@ -4832,6 +4840,23 @@ Orphanet:650059 MONDO:excludeNonDisease Orphanet:650061 MONDO:excludeNonDisease Orphanet:652816 MONDO:excludeNonDisease Orphanet:653915 MONDO:excludeNonDisease +Orphanet:660030 MONDO:excludeNonDisease +Orphanet:660763 MONDO:excludeNonDisease +Orphanet:662194 MONDO:excludeNonDisease +Orphanet:662222 MONDO:excludeNonDisease +Orphanet:663289 MONDO:excludeNonDisease +Orphanet:663458 MONDO:excludeNonDisease +Orphanet:663850 MONDO:excludeNonDisease +Orphanet:663868 MONDO:excludeNonDisease +Orphanet:663910 MONDO:excludeNonDisease +Orphanet:663918 MONDO:excludeNonDisease +Orphanet:672842 MONDO:excludeNonDisease +Orphanet:674734 MONDO:excludeNonDisease +Orphanet:676458 MONDO:excludeNonDisease +Orphanet:676489 MONDO:excludeNonDisease +Orphanet:677320 MONDO:excludeNonDisease +Orphanet:682951 MONDO:excludeNonDisease +Orphanet:683067 MONDO:excludeNonDisease Orphanet:C001 MONDO:excludeNonDisease Orphanet:C010 MONDO:excludeNonDisease Orphanet:100039 MONDO:excludeObsoleteSource @@ -4847,6 +4872,7 @@ Orphanet:101033 MONDO:excludeObsoleteSource Orphanet:101036 MONDO:excludeObsoleteSource Orphanet:101042 MONDO:excludeObsoleteSource Orphanet:101052 MONDO:excludeObsoleteSource +Orphanet:101096 MONDO:excludeObsoleteSource Orphanet:1011 MONDO:excludeObsoleteSource Orphanet:101106 MONDO:excludeObsoleteSource Orphanet:101107 MONDO:excludeObsoleteSource @@ -4894,7 +4920,7 @@ Orphanet:1211 MONDO:excludeObsoleteSource Orphanet:1219 MONDO:excludeObsoleteSource Orphanet:1232 MONDO:excludeObsoleteSource Orphanet:1235 MONDO:excludeObsoleteSource -Orphanet:1239 MONDO:excludeObsoleteSource +Orphanet:1240 MONDO:excludeObsoleteSource Orphanet:1244 MONDO:excludeObsoleteSource Orphanet:1245 MONDO:excludeObsoleteSource Orphanet:1249 MONDO:excludeObsoleteSource @@ -4952,12 +4978,15 @@ Orphanet:140503 MONDO:excludeObsoleteSource Orphanet:1408 MONDO:excludeObsoleteSource Orphanet:1409 MONDO:excludeObsoleteSource Orphanet:141136 MONDO:excludeObsoleteSource +Orphanet:141327 MONDO:excludeObsoleteSource +Orphanet:141330 MONDO:excludeObsoleteSource Orphanet:1417 MONDO:excludeObsoleteSource Orphanet:1420 MONDO:excludeObsoleteSource Orphanet:1421 MONDO:excludeObsoleteSource Orphanet:1428 MONDO:excludeObsoleteSource Orphanet:1432 MONDO:excludeObsoleteSource Orphanet:1434 MONDO:excludeObsoleteSource +Orphanet:1455 MONDO:excludeObsoleteSource Orphanet:1474 MONDO:excludeObsoleteSource Orphanet:1480 MONDO:excludeObsoleteSource Orphanet:1492 MONDO:excludeObsoleteSource @@ -4973,6 +5002,7 @@ Orphanet:155 MONDO:excludeObsoleteSource Orphanet:1557 MONDO:excludeObsoleteSource Orphanet:156071 MONDO:excludeObsoleteSource Orphanet:156156 MONDO:excludeObsoleteSource +Orphanet:1562 MONDO:excludeObsoleteSource Orphanet:1564 MONDO:excludeObsoleteSource Orphanet:156723 MONDO:excludeObsoleteSource Orphanet:1569 MONDO:excludeObsoleteSource @@ -5009,6 +5039,7 @@ Orphanet:1651 MONDO:excludeObsoleteSource Orphanet:1654 MONDO:excludeObsoleteSource Orphanet:165961 MONDO:excludeObsoleteSource Orphanet:165994 MONDO:excludeObsoleteSource +Orphanet:166011 MONDO:excludeObsoleteSource Orphanet:166068 MONDO:excludeObsoleteSource Orphanet:1664 MONDO:excludeObsoleteSource Orphanet:166457 MONDO:excludeObsoleteSource @@ -5017,6 +5048,8 @@ Orphanet:1678 MONDO:excludeObsoleteSource Orphanet:1680 MONDO:excludeObsoleteSource Orphanet:1683 MONDO:excludeObsoleteSource Orphanet:168448 MONDO:excludeObsoleteSource +Orphanet:168486 MONDO:excludeObsoleteSource +Orphanet:168491 MONDO:excludeObsoleteSource Orphanet:168609 MONDO:excludeObsoleteSource Orphanet:168972 MONDO:excludeObsoleteSource Orphanet:169446 MONDO:excludeObsoleteSource @@ -5034,9 +5067,11 @@ Orphanet:172979 MONDO:excludeObsoleteSource Orphanet:172982 MONDO:excludeObsoleteSource Orphanet:172985 MONDO:excludeObsoleteSource Orphanet:1739 MONDO:excludeObsoleteSource +Orphanet:1765 MONDO:excludeObsoleteSource Orphanet:1767 MONDO:excludeObsoleteSource Orphanet:1773 MONDO:excludeObsoleteSource Orphanet:178330 MONDO:excludeObsoleteSource +Orphanet:178493 MONDO:excludeObsoleteSource Orphanet:178503 MONDO:excludeObsoleteSource Orphanet:1789 MONDO:excludeObsoleteSource Orphanet:1792 MONDO:excludeObsoleteSource @@ -5144,6 +5179,7 @@ Orphanet:2227 MONDO:excludeObsoleteSource Orphanet:2243 MONDO:excludeObsoleteSource Orphanet:2244 MONDO:excludeObsoleteSource Orphanet:2245 MONDO:excludeObsoleteSource +Orphanet:225 MONDO:excludeObsoleteSource Orphanet:2258 MONDO:excludeObsoleteSource Orphanet:225968 MONDO:excludeObsoleteSource Orphanet:226310 MONDO:excludeObsoleteSource @@ -5151,17 +5187,8 @@ Orphanet:2267 MONDO:excludeObsoleteSource Orphanet:227786 MONDO:excludeObsoleteSource Orphanet:228315 MONDO:excludeObsoleteSource Orphanet:228318 MONDO:excludeObsoleteSource -Orphanet:228329 MONDO:excludeObsoleteSource -Orphanet:228337 MONDO:excludeObsoleteSource Orphanet:228340 MONDO:excludeObsoleteSource -Orphanet:228343 MONDO:excludeObsoleteSource -Orphanet:228346 MONDO:excludeObsoleteSource -Orphanet:228349 MONDO:excludeObsoleteSource -Orphanet:228354 MONDO:excludeObsoleteSource Orphanet:228357 MONDO:excludeObsoleteSource -Orphanet:228360 MONDO:excludeObsoleteSource -Orphanet:228363 MONDO:excludeObsoleteSource -Orphanet:228366 MONDO:excludeObsoleteSource Orphanet:2284 MONDO:excludeObsoleteSource Orphanet:228407 MONDO:excludeObsoleteSource Orphanet:228418 MONDO:excludeObsoleteSource @@ -5178,6 +5205,8 @@ Orphanet:2352 MONDO:excludeObsoleteSource Orphanet:2355 MONDO:excludeObsoleteSource Orphanet:235835 MONDO:excludeObsoleteSource Orphanet:235838 MONDO:excludeObsoleteSource +Orphanet:238 MONDO:excludeObsoleteSource +Orphanet:238510 MONDO:excludeObsoleteSource Orphanet:238616 MONDO:excludeObsoleteSource Orphanet:238691 MONDO:excludeObsoleteSource Orphanet:238755 MONDO:excludeObsoleteSource @@ -5269,12 +5298,14 @@ Orphanet:263798 MONDO:excludeObsoleteSource Orphanet:264 MONDO:excludeObsoleteSource Orphanet:2640 MONDO:excludeObsoleteSource Orphanet:2641 MONDO:excludeObsoleteSource +Orphanet:2646 MONDO:excludeObsoleteSource Orphanet:264724 MONDO:excludeObsoleteSource Orphanet:264750 MONDO:excludeObsoleteSource Orphanet:2649 MONDO:excludeObsoleteSource Orphanet:264955 MONDO:excludeObsoleteSource Orphanet:265 MONDO:excludeObsoleteSource Orphanet:2650 MONDO:excludeObsoleteSource +Orphanet:2653 MONDO:excludeObsoleteSource Orphanet:2654 MONDO:excludeObsoleteSource Orphanet:2661 MONDO:excludeObsoleteSource Orphanet:2675 MONDO:excludeObsoleteSource @@ -5309,10 +5340,13 @@ Orphanet:2706 MONDO:excludeObsoleteSource Orphanet:2708 MONDO:excludeObsoleteSource Orphanet:2716 MONDO:excludeObsoleteSource Orphanet:2725 MONDO:excludeObsoleteSource +Orphanet:2729 MONDO:excludeObsoleteSource Orphanet:2731 MONDO:excludeObsoleteSource Orphanet:2739 MONDO:excludeObsoleteSource Orphanet:2742 MONDO:excludeObsoleteSource +Orphanet:2752 MONDO:excludeObsoleteSource Orphanet:275534 MONDO:excludeObsoleteSource +Orphanet:2756 MONDO:excludeObsoleteSource Orphanet:276249 MONDO:excludeObsoleteSource Orphanet:276252 MONDO:excludeObsoleteSource Orphanet:276255 MONDO:excludeObsoleteSource @@ -5349,6 +5383,7 @@ Orphanet:2860 MONDO:excludeObsoleteSource Orphanet:2861 MONDO:excludeObsoleteSource Orphanet:2864 MONDO:excludeObsoleteSource Orphanet:2870 MONDO:excludeObsoleteSource +Orphanet:2878 MONDO:excludeObsoleteSource Orphanet:289395 MONDO:excludeObsoleteSource Orphanet:2894 MONDO:excludeObsoleteSource Orphanet:2895 MONDO:excludeObsoleteSource @@ -5445,6 +5480,10 @@ Orphanet:295205 MONDO:excludeObsoleteSource Orphanet:295207 MONDO:excludeObsoleteSource Orphanet:295209 MONDO:excludeObsoleteSource Orphanet:295211 MONDO:excludeObsoleteSource +Orphanet:295213 MONDO:excludeObsoleteSource +Orphanet:295215 MONDO:excludeObsoleteSource +Orphanet:295217 MONDO:excludeObsoleteSource +Orphanet:295219 MONDO:excludeObsoleteSource Orphanet:295221 MONDO:excludeObsoleteSource Orphanet:295223 MONDO:excludeObsoleteSource Orphanet:295234 MONDO:excludeObsoleteSource @@ -5495,7 +5534,6 @@ Orphanet:3128 MONDO:excludeObsoleteSource Orphanet:3133 MONDO:excludeObsoleteSource Orphanet:3135 MONDO:excludeObsoleteSource Orphanet:3140 MONDO:excludeObsoleteSource -Orphanet:314629 MONDO:excludeObsoleteSource Orphanet:314928 MONDO:excludeObsoleteSource Orphanet:314946 MONDO:excludeObsoleteSource Orphanet:3153 MONDO:excludeObsoleteSource @@ -5510,10 +5548,12 @@ Orphanet:319691 MONDO:excludeObsoleteSource Orphanet:319698 MONDO:excludeObsoleteSource Orphanet:319705 MONDO:excludeObsoleteSource Orphanet:320317 MONDO:excludeObsoleteSource +Orphanet:3210 MONDO:excludeObsoleteSource Orphanet:3212 MONDO:excludeObsoleteSource Orphanet:3213 MONDO:excludeObsoleteSource Orphanet:3215 MONDO:excludeObsoleteSource Orphanet:3221 MONDO:excludeObsoleteSource +Orphanet:3226 MONDO:excludeObsoleteSource Orphanet:3228 MONDO:excludeObsoleteSource Orphanet:3229 MONDO:excludeObsoleteSource Orphanet:323 MONDO:excludeObsoleteSource @@ -5560,6 +5600,7 @@ Orphanet:3421 MONDO:excludeObsoleteSource Orphanet:3423 MONDO:excludeObsoleteSource Orphanet:3435 MONDO:excludeObsoleteSource Orphanet:3438 MONDO:excludeObsoleteSource +Orphanet:344 MONDO:excludeObsoleteSource Orphanet:34412 MONDO:excludeObsoleteSource Orphanet:3444 MONDO:excludeObsoleteSource Orphanet:3446 MONDO:excludeObsoleteSource @@ -5585,7 +5626,6 @@ Orphanet:352613 MONDO:excludeObsoleteSource Orphanet:352694 MONDO:excludeObsoleteSource Orphanet:352699 MONDO:excludeObsoleteSource Orphanet:352704 MONDO:excludeObsoleteSource -Orphanet:352709 MONDO:excludeObsoleteSource Orphanet:352740 MONDO:excludeObsoleteSource Orphanet:353225 MONDO:excludeObsoleteSource Orphanet:35688 MONDO:excludeObsoleteSource @@ -5597,6 +5637,7 @@ Orphanet:363266 MONDO:excludeObsoleteSource Orphanet:363543 MONDO:excludeObsoleteSource Orphanet:363629 MONDO:excludeObsoleteSource Orphanet:36414 MONDO:excludeObsoleteSource +Orphanet:364817 MONDO:excludeObsoleteSource Orphanet:369894 MONDO:excludeObsoleteSource Orphanet:369902 MONDO:excludeObsoleteSource Orphanet:370006 MONDO:excludeObsoleteSource @@ -5613,6 +5654,7 @@ Orphanet:383 MONDO:excludeObsoleteSource Orphanet:387 MONDO:excludeObsoleteSource Orphanet:391479 MONDO:excludeObsoleteSource Orphanet:391658 MONDO:excludeObsoleteSource +Orphanet:398980 MONDO:excludeObsoleteSource Orphanet:40050 MONDO:excludeObsoleteSource Orphanet:401825 MONDO:excludeObsoleteSource Orphanet:406 MONDO:excludeObsoleteSource @@ -5658,6 +5700,7 @@ Orphanet:45360 MONDO:excludeObsoleteSource Orphanet:454872 MONDO:excludeObsoleteSource Orphanet:457252 MONDO:excludeObsoleteSource Orphanet:458713 MONDO:excludeObsoleteSource +Orphanet:458827 MONDO:excludeObsoleteSource Orphanet:458841 MONDO:excludeObsoleteSource Orphanet:459353 MONDO:excludeObsoleteSource Orphanet:459530 MONDO:excludeObsoleteSource @@ -5674,6 +5717,7 @@ Orphanet:466667 MONDO:excludeObsoleteSource Orphanet:466673 MONDO:excludeObsoleteSource Orphanet:466732 MONDO:excludeObsoleteSource Orphanet:466801 MONDO:excludeObsoleteSource +Orphanet:476102 MONDO:excludeObsoleteSource Orphanet:477668 MONDO:excludeObsoleteSource Orphanet:477697 MONDO:excludeObsoleteSource Orphanet:480773 MONDO:excludeObsoleteSource @@ -5712,6 +5756,8 @@ Orphanet:57194 MONDO:excludeObsoleteSource Orphanet:58208 MONDO:excludeObsoleteSource Orphanet:58220 MONDO:excludeObsoleteSource Orphanet:587 MONDO:excludeObsoleteSource +Orphanet:592885 MONDO:excludeObsoleteSource +Orphanet:592888 MONDO:excludeObsoleteSource Orphanet:619 MONDO:excludeObsoleteSource Orphanet:619360 MONDO:excludeObsoleteSource Orphanet:620 MONDO:excludeObsoleteSource @@ -5724,7 +5770,10 @@ Orphanet:642737 MONDO:excludeObsoleteSource Orphanet:64738 MONDO:excludeObsoleteSource Orphanet:64740 MONDO:excludeObsoleteSource Orphanet:651 MONDO:excludeObsoleteSource +Orphanet:65250 MONDO:excludeObsoleteSource Orphanet:65279 MONDO:excludeObsoleteSource +Orphanet:656273 MONDO:excludeObsoleteSource +Orphanet:65798 MONDO:excludeObsoleteSource Orphanet:665 MONDO:excludeObsoleteSource Orphanet:669 MONDO:excludeObsoleteSource Orphanet:670 MONDO:excludeObsoleteSource @@ -5766,6 +5815,9 @@ Orphanet:79142 MONDO:excludeObsoleteSource Orphanet:79211 MONDO:excludeObsoleteSource Orphanet:79260 MONDO:excludeObsoleteSource Orphanet:79261 MONDO:excludeObsoleteSource +Orphanet:79262 MONDO:excludeObsoleteSource +Orphanet:79263 MONDO:excludeObsoleteSource +Orphanet:79264 MONDO:excludeObsoleteSource Orphanet:79289 MONDO:excludeObsoleteSource Orphanet:79316 MONDO:excludeObsoleteSource Orphanet:79317 MONDO:excludeObsoleteSource @@ -5794,6 +5846,7 @@ Orphanet:84271 MONDO:excludeObsoleteSource Orphanet:850 MONDO:excludeObsoleteSource Orphanet:85142 MONDO:excludeObsoleteSource Orphanet:85196 MONDO:excludeObsoleteSource +Orphanet:85200 MONDO:excludeObsoleteSource Orphanet:85281 MONDO:excludeObsoleteSource Orphanet:85289 MONDO:excludeObsoleteSource Orphanet:85291 MONDO:excludeObsoleteSource @@ -5863,6 +5916,7 @@ Orphanet:93385 MONDO:excludeObsoleteSource Orphanet:93389 MONDO:excludeObsoleteSource Orphanet:93393 MONDO:excludeObsoleteSource Orphanet:93395 MONDO:excludeObsoleteSource +Orphanet:93424 MONDO:excludeObsoleteSource Orphanet:93427 MONDO:excludeObsoleteSource Orphanet:93435 MONDO:excludeObsoleteSource Orphanet:93445 MONDO:excludeObsoleteSource @@ -5879,6 +5933,7 @@ Orphanet:93559 MONDO:excludeObsoleteSource Orphanet:93564 MONDO:excludeObsoleteSource Orphanet:93566 MONDO:excludeObsoleteSource Orphanet:93567 MONDO:excludeObsoleteSource +Orphanet:93569 MONDO:excludeObsoleteSource Orphanet:93575 MONDO:excludeObsoleteSource Orphanet:93576 MONDO:excludeObsoleteSource Orphanet:93578 MONDO:excludeObsoleteSource @@ -5916,6 +5971,7 @@ Orphanet:94062 MONDO:excludeObsoleteSource Orphanet:94084 MONDO:excludeObsoleteSource Orphanet:94095 MONDO:excludeObsoleteSource Orphanet:946 MONDO:excludeObsoleteSource +Orphanet:95161 MONDO:excludeObsoleteSource Orphanet:953 MONDO:excludeObsoleteSource Orphanet:95426 MONDO:excludeObsoleteSource Orphanet:95449 MONDO:excludeObsoleteSource @@ -6146,6 +6202,7 @@ Orphanet:98894 MONDO:excludeObsoleteSource Orphanet:98932 MONDO:excludeObsoleteSource Orphanet:98941 MONDO:excludeObsoleteSource Orphanet:98968 MONDO:excludeObsoleteSource +Orphanet:98975 MONDO:excludeObsoleteSource Orphanet:98983 MONDO:excludeObsoleteSource Orphanet:98986 MONDO:excludeObsoleteSource Orphanet:98987 MONDO:excludeObsoleteSource @@ -6169,6 +6226,7 @@ Orphanet:99151 MONDO:excludeObsoleteSource Orphanet:99166 MONDO:excludeObsoleteSource Orphanet:995 MONDO:excludeObsoleteSource Orphanet:99645 MONDO:excludeObsoleteSource +Orphanet:99647 MONDO:excludeObsoleteSource Orphanet:99648 MONDO:excludeObsoleteSource Orphanet:99649 MONDO:excludeObsoleteSource Orphanet:99650 MONDO:excludeObsoleteSource diff --git a/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv index 3f48e046..2d628c7d 100644 --- a/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv @@ -4,35 +4,38 @@ MONDO:0001153 Orphanet:459690 MONDO:equivalentObsolete MONDO:0001807 Orphanet:79211 MONDO:equivalentObsolete MONDO:0003144 Orphanet:251883 MONDO:equivalentObsolete MONDO:0006042 Orphanet:499004 MONDO:equivalentObsolete +MONDO:0007482 Orphanet:1765 MONDO:equivalentObsolete +MONDO:0007562 Orphanet:166011 MONDO:equivalentObsolete MONDO:0007761 Orphanet:413 MONDO:equivalentObsolete MONDO:0007779 Orphanet:306588 MONDO:equivalentObsolete MONDO:0008018 Orphanet:587 MONDO:equivalentObsolete -MONDO:0008083 Orphanet:228343 MONDO:equivalentObsolete +MONDO:0008137 Orphanet:2756 MONDO:equivalentObsolete MONDO:0008157 Orphanet:1306 MONDO:equivalentObsolete +MONDO:0008158 Orphanet:1562 MONDO:equivalentObsolete +MONDO:0008196 Orphanet:2646 MONDO:equivalentObsolete MONDO:0008227 Orphanet:1795 MONDO:equivalentObsolete -MONDO:0008767 Orphanet:228346 MONDO:equivalentObsolete +MONDO:0008237 Orphanet:2878 MONDO:equivalentObsolete +MONDO:0008711 Orphanet:65798 MONDO:equivalentObsolete MONDO:0008768 Orphanet:228340 MONDO:equivalentObsolete -MONDO:0008769 Orphanet:228349 MONDO:equivalentObsolete MONDO:0008816 Orphanet:1136 MONDO:equivalentObsolete MONDO:0008882 Orphanet:2292 MONDO:equivalentObsolete MONDO:0009317 Orphanet:1245 MONDO:equivalentObsolete -MONDO:0009744 Orphanet:228329 MONDO:equivalentObsolete -MONDO:0009745 Orphanet:228360 MONDO:equivalentObsolete +MONDO:0009592 Orphanet:1240 MONDO:equivalentObsolete +MONDO:0009793 Orphanet:2752 MONDO:equivalentObsolete MONDO:0010045 Orphanet:2823 MONDO:equivalentObsolete -MONDO:0010830 Orphanet:228354 MONDO:equivalentObsolete +MONDO:0010090 Orphanet:3210 MONDO:equivalentObsolete +MONDO:0010785 Orphanet:225 MONDO:equivalentObsolete MONDO:0010994 Orphanet:2641 MONDO:equivalentObsolete -MONDO:0011144 Orphanet:228363 MONDO:equivalentObsolete MONDO:0011910 Orphanet:265 MONDO:equivalentObsolete MONDO:0012188 Orphanet:228357 MONDO:equivalentObsolete MONDO:0012282 Orphanet:2725 MONDO:equivalentObsolete MONDO:0012296 Orphanet:268835 MONDO:equivalentObsolete -MONDO:0012414 Orphanet:228337 MONDO:equivalentObsolete -MONDO:0012588 Orphanet:228366 MONDO:equivalentObsolete MONDO:0013297 Orphanet:238755 MONDO:equivalentObsolete +MONDO:0013540 Orphanet:3226 MONDO:equivalentObsolete MONDO:0013621 Orphanet:306507 MONDO:equivalentObsolete -MONDO:0013866 Orphanet:314629 MONDO:equivalentObsolete -MONDO:0014147 Orphanet:352709 MONDO:equivalentObsolete +MONDO:0014700 Orphanet:2729 MONDO:equivalentObsolete MONDO:0014788 Orphanet:466801 MONDO:equivalentObsolete +MONDO:0015100 Orphanet:101096 MONDO:equivalentObsolete MONDO:0015120 Orphanet:101949 MONDO:equivalentObsolete MONDO:0015163 Orphanet:102373 MONDO:equivalentObsolete MONDO:0015172 Orphanet:103912 MONDO:equivalentObsolete @@ -43,14 +46,19 @@ MONDO:0015255 Orphanet:1256 MONDO:equivalentObsolete MONDO:0015297 Orphanet:137653 MONDO:equivalentObsolete MONDO:0015311 Orphanet:137911 MONDO:equivalentObsolete MONDO:0015343 Orphanet:139420 MONDO:equivalentObsolete +MONDO:0015421 Orphanet:141327 MONDO:equivalentObsolete +MONDO:0015422 Orphanet:141330 MONDO:equivalentObsolete +MONDO:0015445 Orphanet:1455 MONDO:equivalentObsolete MONDO:0015551 Orphanet:158665 MONDO:equivalentObsolete MONDO:0015560 Orphanet:158796 MONDO:equivalentObsolete MONDO:0015591 Orphanet:163903 MONDO:equivalentObsolete MONDO:0015593 Orphanet:163914 MONDO:equivalentObsolete MONDO:0015594 Orphanet:163918 MONDO:equivalentObsolete MONDO:0015602 Orphanet:163988 MONDO:equivalentObsolete +MONDO:0015674 Orphanet:168491 MONDO:equivalentObsolete MONDO:0015713 Orphanet:169615 MONDO:equivalentObsolete MONDO:0015714 Orphanet:169618 MONDO:equivalentObsolete +MONDO:0015807 Orphanet:178493 MONDO:equivalentObsolete MONDO:0015902 Orphanet:181425 MONDO:equivalentObsolete MONDO:0015919 Orphanet:182073 MONDO:equivalentObsolete MONDO:0015920 Orphanet:182076 MONDO:equivalentObsolete @@ -68,6 +76,8 @@ MONDO:0016249 Orphanet:213524 MONDO:equivalentObsolete MONDO:0016254 Orphanet:213574 MONDO:equivalentObsolete MONDO:0016285 Orphanet:213817 MONDO:equivalentObsolete MONDO:0016351 Orphanet:2194 MONDO:equivalentObsolete +MONDO:0016531 Orphanet:238 MONDO:equivalentObsolete +MONDO:0016537 Orphanet:238510 MONDO:equivalentObsolete MONDO:0016626 Orphanet:248305 MONDO:equivalentObsolete MONDO:0016715 Orphanet:251880 MONDO:equivalentObsolete MONDO:0016795 Orphanet:254793 MONDO:equivalentObsolete @@ -76,6 +86,7 @@ MONDO:0016816 Orphanet:255249 MONDO:equivalentObsolete MONDO:0016993 Orphanet:263558 MONDO:equivalentObsolete MONDO:0016997 Orphanet:263676 MONDO:equivalentObsolete MONDO:0017036 Orphanet:264955 MONDO:equivalentObsolete +MONDO:0017041 Orphanet:2653 MONDO:equivalentObsolete MONDO:0017063 Orphanet:268377 MONDO:equivalentObsolete MONDO:0017064 Orphanet:268384 MONDO:equivalentObsolete MONDO:0017065 Orphanet:268388 MONDO:equivalentObsolete @@ -109,39 +120,55 @@ MONDO:0017539 Orphanet:295179 MONDO:equivalentObsolete MONDO:0017540 Orphanet:295181 MONDO:equivalentObsolete MONDO:0017541 Orphanet:295183 MONDO:equivalentObsolete MONDO:0017542 Orphanet:295185 MONDO:equivalentObsolete +MONDO:0017552 Orphanet:295213 MONDO:equivalentObsolete +MONDO:0017553 Orphanet:295215 MONDO:equivalentObsolete +MONDO:0017554 Orphanet:295217 MONDO:equivalentObsolete +MONDO:0017555 Orphanet:295219 MONDO:equivalentObsolete MONDO:0017655 Orphanet:306762 MONDO:equivalentObsolete MONDO:0017728 Orphanet:309239 MONDO:equivalentObsolete MONDO:0017772 Orphanet:31142 MONDO:equivalentObsolete MONDO:0017984 Orphanet:3267 MONDO:equivalentObsolete MONDO:0017996 Orphanet:329255 MONDO:equivalentObsolete +MONDO:0018093 Orphanet:344 MONDO:equivalentObsolete MONDO:0018104 Orphanet:3460 MONDO:equivalentObsolete MONDO:0018107 Orphanet:35061 MONDO:equivalentObsolete MONDO:0018110 Orphanet:35064 MONDO:equivalentObsolete MONDO:0018113 Orphanet:35098 MONDO:equivalentObsolete MONDO:0018138 Orphanet:352740 MONDO:equivalentObsolete +MONDO:0018239 Orphanet:364817 MONDO:equivalentObsolete MONDO:0018255 Orphanet:370019 MONDO:equivalentObsolete MONDO:0018285 Orphanet:371054 MONDO:equivalentObsolete MONDO:0018286 Orphanet:371064 MONDO:equivalentObsolete +MONDO:0018368 Orphanet:398980 MONDO:equivalentObsolete MONDO:0018627 Orphanet:443287 MONDO:equivalentObsolete MONDO:0018665 Orphanet:448348 MONDO:equivalentObsolete +MONDO:0018718 Orphanet:458827 MONDO:equivalentObsolete MONDO:0018722 Orphanet:458841 MONDO:equivalentObsolete MONDO:0018912 Orphanet:553 MONDO:equivalentObsolete +MONDO:0019000 Orphanet:65250 MONDO:equivalentObsolete MONDO:0019083 Orphanet:70474 MONDO:equivalentObsolete MONDO:0019116 Orphanet:717 MONDO:equivalentObsolete MONDO:0019165 Orphanet:759 MONDO:equivalentObsolete +MONDO:0019260 Orphanet:79262 MONDO:equivalentObsolete +MONDO:0019261 Orphanet:79263 MONDO:equivalentObsolete +MONDO:0019262 Orphanet:79264 MONDO:equivalentObsolete MONDO:0019348 Orphanet:82004 MONDO:equivalentObsolete MONDO:0019389 Orphanet:83648 MONDO:equivalentObsolete MONDO:0019410 Orphanet:85196 MONDO:equivalentObsolete +MONDO:0019413 Orphanet:85200 MONDO:equivalentObsolete MONDO:0019520 Orphanet:89832 MONDO:equivalentObsolete MONDO:0019657 Orphanet:93221 MONDO:equivalentObsolete MONDO:0019658 Orphanet:93222 MONDO:equivalentObsolete MONDO:0019675 Orphanet:93359 MONDO:equivalentObsolete +MONDO:0019689 Orphanet:93424 MONDO:equivalentObsolete MONDO:0019723 Orphanet:93550 MONDO:equivalentObsolete MONDO:0019724 Orphanet:93551 MONDO:equivalentObsolete +MONDO:0019735 Orphanet:93569 MONDO:equivalentObsolete MONDO:0019765 Orphanet:93942 MONDO:equivalentObsolete MONDO:0019774 Orphanet:93970 MONDO:equivalentObsolete MONDO:0019776 Orphanet:93972 MONDO:equivalentObsolete MONDO:0019779 Orphanet:93975 MONDO:equivalentObsolete +MONDO:0019800 Orphanet:95161 MONDO:equivalentObsolete MONDO:0019826 Orphanet:95493 MONDO:equivalentObsolete MONDO:0019847 Orphanet:95701 MONDO:equivalentObsolete MONDO:0019894 Orphanet:96136 MONDO:equivalentObsolete @@ -213,6 +240,8 @@ MONDO:0020279 Orphanet:98711 MONDO:equivalentObsolete MONDO:0020280 Orphanet:98712 MONDO:equivalentObsolete MONDO:0020281 Orphanet:98713 MONDO:equivalentObsolete MONDO:0020282 Orphanet:98714 MONDO:equivalentObsolete +MONDO:0020365 Orphanet:98975 MONDO:equivalentObsolete +MONDO:0020474 Orphanet:99647 MONDO:equivalentObsolete MONDO:0020489 Orphanet:99763 MONDO:equivalentObsolete MONDO:0020524 Orphanet:99878 MONDO:equivalentObsolete MONDO:0020529 Orphanet:99893 MONDO:equivalentObsolete @@ -222,7 +251,12 @@ MONDO:0021062 Orphanet:306539 MONDO:equivalentObsolete MONDO:0022414 Orphanet:1526 MONDO:equivalentObsolete MONDO:0022921 Orphanet:2861 MONDO:equivalentObsolete MONDO:0023072 Orphanet:1939 MONDO:equivalentObsolete +MONDO:0032780 Orphanet:656273 MONDO:equivalentObsolete MONDO:0034556 Orphanet:493348 MONDO:equivalentObsolete +MONDO:0035667 Orphanet:592885 MONDO:equivalentObsolete +MONDO:0035668 Orphanet:592888 MONDO:equivalentObsolete MONDO:0043007 Orphanet:330197 MONDO:equivalentObsolete MONDO:0044683 Orphanet:498700 MONDO:equivalentObsolete MONDO:0100343 Orphanet:93604 MONDO:equivalentObsolete +MONDO:0800045 Orphanet:476102 MONDO:equivalentObsolete +MONDO:0850001 Orphanet:168486 MONDO:equivalentObsolete diff --git a/src/ontology/reports/ordo_mapping_status.tsv b/src/ontology/reports/ordo_mapping_status.tsv index 82899966..8f557a4c 100644 --- a/src/ontology/reports/ordo_mapping_status.tsv +++ b/src/ontology/reports/ordo_mapping_status.tsv @@ -1,4 +1,5 @@ subject_id subject_label is_mapped is_excluded is_deprecated +Orphanet:1239 Behr syndrome False False False Orphanet:377794 clinical group False False False Orphanet:377795 etiological subtype False False False Orphanet:377796 clinical subtype False False False @@ -38,6 +39,135 @@ Orphanet:409979 <1 / 1 000 000 False False False Orphanet:409980 >1 / 1000 False False False Orphanet:409981 Unknown_epidemiological_range False False False Orphanet:557495 category False False False +Orphanet:659387 PRC-2 complex-related overgrowth spectrum False False False +Orphanet:659396 Cohen-Gibson syndrome False False False +Orphanet:659463 Imagawa-Matsumoto syndrome False False False +Orphanet:659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome False False False +Orphanet:659626 Single isolated optic neuritis False False False +Orphanet:659634 Relapsing isolated optic neuritis False False False +Orphanet:659642 Rauch-Steindl syndrome False False False +Orphanet:659672 Harderoporphyria False False False +Orphanet:659681 Erythropoietic porphyria False False False +Orphanet:659694 Hepatic porphyria False False False +Orphanet:659698 Hepatic cutaneous porphyria False False False +Orphanet:659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome False False False +Orphanet:659707 Yersinia pseudotuberculosis infection False False False +Orphanet:659712 Rare yersiniosis False False False +Orphanet:659744 Ocular surface squamous neoplasia False False False +Orphanet:659756 Oroya fever False False False +Orphanet:659759 Verruga peruana False False False +Orphanet:659873 Wormian bones-micrognathia-abnormal dentition-progeroid syndrome False False False +Orphanet:659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome False False False +Orphanet:659908 Glanders False False False +Orphanet:659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome False False False +Orphanet:660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation False False False +Orphanet:660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome False False False +Orphanet:660021 Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome False False False +Orphanet:660053 Psittacosis False False False +Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency False False False +Orphanet:661526 MBD4-related tumor predisposition syndrome False False False +Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion False False False +Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation False False False +Orphanet:662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome False False False +Orphanet:662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome False False False +Orphanet:662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome False False False +Orphanet:662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome False False False +Orphanet:662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome False False False +Orphanet:662207 Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome False False False +Orphanet:662216 Mucopolysaccharidosis type 10 False False False +Orphanet:662229 Episodic memory defect leukoencephalopathy False False False +Orphanet:662234 Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome False False False +Orphanet:662240 Frey syndrome False False False +Orphanet:662255 Grisel syndrome False False False +Orphanet:662367 NESCAV syndrome False False False +Orphanet:662376 Gastric duplication False False False +Orphanet:662388 Gallbladder duplication False False False +Orphanet:662392 Colonic duplication False False False +Orphanet:662405 Pyloric duplication False False False +Orphanet:662456 Small intestine duplication False False False +Orphanet:662473 Duodenal duplication False False False +Orphanet:662480 Jujeno-ileal duplication False False False +Orphanet:662721 Placenta accreta spectrum disorder False False False +Orphanet:662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome False False False +Orphanet:662786 Vasa previa False False False +Orphanet:662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome False False False +Orphanet:662934 Acute megakaryoblastic leukemia in adult False False False +Orphanet:664372 Soft and hard cleft palate False False False +Orphanet:664377 MGP-related spondyloepiphyseal dysplasia False False False +Orphanet:664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation False False False +Orphanet:664404 6q25.1 microdeletion syndrome False False False +Orphanet:664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome False False False +Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation False False False +Orphanet:664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome False False False +Orphanet:664438 Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome False False False +Orphanet:664450 Inherited cancer-predisposing lymphoproliferative syndrome False False False +Orphanet:664456 Immune dysregulation disease with immunodeficiency associated with EBV susceptibility False False False +Orphanet:664500 Hermansky-Pudlak syndrome due to AP3B1 deficiency False False False +Orphanet:664511 Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency False False False +Orphanet:664699 EBV-induced lymphoproliferative disease due to RASGRP1 deficiency False False False +Orphanet:664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency False False False +Orphanet:664726 EBV-induced lymphoproliferative disease due to CD137 deficiency False False False +Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency False False False +Orphanet:664734 EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature False False False +Orphanet:664787 Nicolau syndrome False False False +Orphanet:664901 Trigeminal trophic syndrome False False False +Orphanet:664912 Neonatal renal venous thrombosis False False False +Orphanet:664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome False False False +Orphanet:665044 Common arterial trunk with aortic dominance False False False +Orphanet:665058 Common arterial trunk with pulmonary dominance and interrupted aortic arch False False False +Orphanet:667589 Isolated congenital femoral bifurcation False False False +Orphanet:667662 Breast implant-associated anaplastic large cell lymphoma False False False +Orphanet:667678 Intraoral basal cell carcinoma False False False +Orphanet:672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome False False False +Orphanet:672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome False False False +Orphanet:673466 Malignant vascular tumor False False False +Orphanet:673470 Benign vascular tumor False False False +Orphanet:673473 Borderline vascular tumor False False False +Orphanet:673525 Intravascular papillary endothelial hyperplasia False False False +Orphanet:673538 Littoral cell hemangioma of the spleen False False False +Orphanet:673543 Papillary hemangioma False False False +Orphanet:673556 Pseudomyogenic hemangioendothelioma False False False +Orphanet:673568 Eccrine angiomatous hamartoma False False False +Orphanet:673574 Reactive angioendotheliomatosis False False False +Orphanet:673580 Classic pilocytic astrocytoma False False False +Orphanet:673585 Pilocytic astrocytoma with histological features of anaplasia False False False +Orphanet:674499 Proteoglycan-related bone disorder False False False +Orphanet:674648 Syndrome with congenital phagocyte functional defect as a major feature False False False +Orphanet:674653 Actinomyopathy-associated syndromic thrombocytopenia False False False +Orphanet:674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency False False False +Orphanet:674896 Non-syndromic congenital phagocyte functional defect False False False +Orphanet:674924 Isolated retinal racemose hemangioma False False False +Orphanet:674930 Perifoveal exudative vascular anomalous complex False False False +Orphanet:674935 Torpedo Maculopathy False False False +Orphanet:674943 Isolated angioid streaks False False False +Orphanet:674947 Diffuse unilateral subacute neuroretinitis False False False +Orphanet:674953 Multiple evanescent white dot syndrome False False False +Orphanet:674958 Stellate multiform amelanotic choroidopathy False False False +Orphanet:674965 Choroidal osteoma False False False +Orphanet:674968 Bilateral diffuse uveal melanocytic proliferation disease False False False +Orphanet:675216 Spinocerebellar ataxia type 27B False False False +Orphanet:675359 Anastomosing haemangioma False False False +Orphanet:675362 Hobnail hemangioma False False False +Orphanet:675369 Microvenular haemangioma False False False +Orphanet:675380 Isolated segmental infantile hemangioma False False False +Orphanet:675396 Epithelioid hemangioma False False False +Orphanet:675404 May-Thurner syndrome False False False +Orphanet:675597 Acquired elastotic haemangioma False False False +Orphanet:675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome False False False +Orphanet:675767 Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency False False False +Orphanet:675775 Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome False False False +Orphanet:675782 Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN False False False +Orphanet:675814 Adenomatoid tumour of the pleura False False False +Orphanet:675822 Well-differentiated papillary mesothelial tumour of the pleura False False False +Orphanet:675833 Localized pleural mesothelioma False False False +Orphanet:675837 Diffused pleural mesothelioma False False False +Orphanet:675841 Pleural mesothelioma in situ False False False +Orphanet:675976 Adenomatoid tumour of the peritoneum False False False +Orphanet:676030 Primary benign peritoneal tumor False False False +Orphanet:676033 Well-differentiated papillary mesothelial tumour of the peritoneum False False False +Orphanet:676036 Peritoneal mesothelioma in situ False False False +Orphanet:676039 Combined immunodeficiency due to FOXN1 haploinsufficiency False False False +Orphanet:676125 X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency False False False Orphanet:C003 epidemiology False False False Orphanet:C004 prevalence False False False Orphanet:C005 inheritance False False False @@ -142,8 +272,8 @@ Orphanet:118000 proteoglycan 4 False True False Orphanet:118006 protein kinase AMP-activated non-catalytic subunit gamma 2 False True False Orphanet:118010 protein kinase cAMP-dependent type I regulatory subunit alpha False True False Orphanet:118014 protein kinase C gamma False True False -Orphanet:118020 protein kinase C substrate 80K-H False True False -Orphanet:118023 prion protein False True False +Orphanet:118020 PRKCSH beta subunit of glucosidase II False True False +Orphanet:118023 prion protein (Kanno blood group) False True False Orphanet:118030 protein C, inactivator of coagulation factors Va and VIIIa False True False Orphanet:118032 proline dehydrogenase 1 False True False Orphanet:118039 prokineticin 2 False True False @@ -413,7 +543,7 @@ Orphanet:119336 centromere protein J False True False Orphanet:119343 centrosomal protein 290 False True False Orphanet:119354 ceramide kinase like False True False Orphanet:119357 cholesteryl ester transfer protein False True False -Orphanet:119359 cripto, FRL-1, cryptic family 1 False True False +Orphanet:119359 cryptic, EGF-CFC family member 1 False True False Orphanet:119363 complement factor H False True False Orphanet:119371 complement factor I False True False Orphanet:119377 cofilin 2 False True False @@ -805,7 +935,6 @@ Orphanet:121062 24-dehydrocholesterol reductase False True False Orphanet:121066 7-dehydrocholesterol reductase False True False Orphanet:121069 desert hedgehog signaling molecule False True False Orphanet:121073 diaphanous related formin 1 False True False -Orphanet:121089 DISC1 scaffold protein False True False Orphanet:121091 dyskerin pseudouridine synthase 1 False True False Orphanet:121098 dihydrolipoamide S-acetyltransferase False True False Orphanet:121102 dihydrolipoamide dehydrogenase False True False @@ -1298,7 +1427,6 @@ Orphanet:123245 MKKS centrosomal shuttling protein False True False Orphanet:123253 MKS transition zone complex subunit 1 False True False Orphanet:123257 modulator of VRAC current 1 False True False Orphanet:123263 mutL homolog 1 False True False -Orphanet:123269 mutL homolog 3 False True False Orphanet:123271 lysine methyltransferase 2A False True False Orphanet:123279 melanophilin False True False Orphanet:123290 malonyl-CoA decarboxylase False True False @@ -1550,6 +1678,7 @@ Orphanet:138530 renin False True False Orphanet:138533 angiotensin II receptor type 1 False True False Orphanet:138543 spermine synthase False True False Orphanet:138557 VANGL planar cell polarity protein 1 False True False +Orphanet:138561 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 False True False Orphanet:138568 amnion associated transmembrane protein False True False Orphanet:138570 FYVE, RhoGEF and PH domain containing 4 False True False Orphanet:138575 C1q and TNF related 5 False True False @@ -1651,7 +1780,6 @@ Orphanet:159075 tyrosine kinase 2 False True False Orphanet:159080 ubiquitin conjugating enzyme E2 A False True False Orphanet:159084 ubiquitin recognition factor in ER associated degradation 1 False True False Orphanet:159087 vinculin False True False -Orphanet:159118 zinc finger protein 41 False True False Orphanet:159122 small nucleolar RNA, C/D box 116 cluster False True False Orphanet:159134 activator of transcription and developmental regulator AUTS2 False True False Orphanet:159137 NOP10 ribonucleoprotein False True False @@ -1780,8 +1908,8 @@ Orphanet:160020 ALK receptor tyrosine kinase False True False Orphanet:160048 aurora kinase C False True False Orphanet:160055 beaded filament structural protein 1 False True False Orphanet:160064 complement C3 False True False -Orphanet:160067 complement C4A (Rodgers blood group) False True False -Orphanet:160082 complement C4B (Chido blood group) False True False +Orphanet:160067 complement C4A (Chido/Rodgers blood group) False True False +Orphanet:160082 complement C4B (Chido/Rodgers blood group) False True False Orphanet:160093 complement C5 False True False Orphanet:160107 complement C6 False True False Orphanet:160112 complement C7 False True False @@ -1903,7 +2031,6 @@ Orphanet:169953 golgin, RAB6 interacting False True False Orphanet:169957 prickle planar cell polarity protein 1 False True False Orphanet:169960 succinyl-CoA:glutarate-CoA transferase False True False Orphanet:171034 glucose-6-phosphatase catalytic subunit 3 False True False -Orphanet:171038 DDB1 and CUL4 associated factor 17 False True False Orphanet:171045 solute carrier family 2 member 9 False True False Orphanet:171050 ribosomal protein S7 False True False Orphanet:171052 ribosomal protein L5 False True False @@ -2168,7 +2295,7 @@ Orphanet:226051 euchromatic histone lysine methyltransferase 1 False True False Orphanet:226058 carbohydrate sulfotransferase 14 False True False Orphanet:226144 CD247 molecule False True False Orphanet:227053 solute carrier family 52 member 3 False True False -Orphanet:227058 FLVCR heme transporter 2 False True False +Orphanet:227058 FLVCR choline and putative heme transporter 2 False True False Orphanet:227063 parathyroid hormone like hormone False True False Orphanet:227071 taperin False True False Orphanet:227077 myosin binding protein C1 False True False @@ -2295,9 +2422,9 @@ Orphanet:244720 protein phosphatase, Mg2+/Mn2+ dependent 1B False True False Orphanet:244737 interleukin 10 receptor subunit alpha False True False Orphanet:244742 interleukin 10 receptor subunit beta False True False Orphanet:244810 DCC netrin 1 receptor False True False -Orphanet:246552 coiled-coil domain containing 39 False True False -Orphanet:246554 coiled-coil domain containing 40 False True False -Orphanet:246647 FLVCR heme transporter 1 False True False +Orphanet:246552 coiled-coil domain 39 molecular ruler complex subunit False True False +Orphanet:246554 coiled-coil domain 40 molecular ruler complex subunit False True False +Orphanet:246647 FLVCR choline and heme transporter 1 False True False Orphanet:246653 myosin light chain kinase False True False Orphanet:246681 neurotrophic receptor tyrosine kinase 3 False True False Orphanet:246689 cAMP responsive element binding protein 1 False True False @@ -2355,7 +2482,7 @@ Orphanet:264482 hepatic and glial cell adhesion molecule False True False Orphanet:264501 lipase family member N False True False Orphanet:264663 cholinergic receptor nicotinic alpha 7 subunit False True False Orphanet:265147 serine protease 56 False True False -Orphanet:265258 RNA, U4atac small nuclear (U12-dependent splicing) False True False +Orphanet:265258 RNA, U4atac small nuclear False True False Orphanet:265487 dpy-19 like 2 False True False Orphanet:265490 serpin family F member 1 False True False Orphanet:265497 trans-2,3-enoyl-CoA reductase False True False @@ -2540,14 +2667,14 @@ Orphanet:290568 lysine demethylase 6A False True False Orphanet:291509 sigma non-opioid intracellular receptor 1 False True False Orphanet:291703 proline rich transmembrane protein 2 False True False Orphanet:291751 distal-less homeobox 5 False True False -Orphanet:291794 ATP binding cassette subfamily B member 6 (Langereis blood group) False True False +Orphanet:291794 ATP binding cassette subfamily B member 6 (LAN blood group) False True False Orphanet:291802 receptor interacting serine/threonine kinase 4 False True False Orphanet:291813 collagen type IV alpha 2 chain False True False Orphanet:291819 enhancer of zeste 2 polycomb repressive complex 2 subunit False True False Orphanet:291830 solute carrier organic anion transporter family member 2A1 False True False Orphanet:291843 cytochrome c oxidase assembly factor COX14 False True False Orphanet:291853 GATA binding protein 6 False True False -Orphanet:291856 deoxyribonuclease 1 like 3 False True False +Orphanet:291856 deoxyribonuclease 1L3 False True False Orphanet:291915 butyrophilin like 2 False True False Orphanet:292027 NADH:ubiquinone oxidoreductase subunit B9 False True False Orphanet:292035 basic helix-loop-helix family member a9 False True False @@ -2636,7 +2763,7 @@ Orphanet:303011 leucine rich repeat and sterile alpha motif containing 1 False T Orphanet:303024 SPARC related modular calcium binding 2 False True False Orphanet:303028 glutamate receptor interacting protein 1 False True False Orphanet:303168 LPS responsive beige-like anchor protein False True False -Orphanet:303176 piezo type mechanosensitive ion channel component 1 False True False +Orphanet:303176 piezo type mechanosensitive ion channel component 1 (Er blood group) False True False Orphanet:303711 leucine zipper transcription factor like 1 False True False Orphanet:303726 coiled-coil domain containing 103 False True False Orphanet:303739 KAT8 regulatory NSL complex subunit 1 False True False @@ -2649,7 +2776,7 @@ Orphanet:303819 phospholipase C gamma 2 False True False Orphanet:303823 CASP2 and RIPK1 domain containing adaptor with death domain False True False Orphanet:303828 glycerol-3-phosphate dehydrogenase 1 False True False Orphanet:303832 dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit False True False -Orphanet:304005 tubulin gamma complex associated protein 6 False True False +Orphanet:304005 tubulin gamma complex component 6 False True False Orphanet:304075 nicotinamide nucleotide transhydrogenase False True False Orphanet:304165 FKBP prolyl isomerase 14 False True False Orphanet:304172 procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 False True False @@ -2774,7 +2901,7 @@ Orphanet:319038 keratin 71 False True False Orphanet:320176 structural maintenance of chromosomes flexible hinge domain containing 1 False True False Orphanet:320192 cytochrome P450 family 26 subfamily C member 1 False True False Orphanet:320199 La ribonucleoprotein 7, transcriptional regulator False True False -Orphanet:320535 EPS8 like 3 False True False +Orphanet:320535 EPS8 signaling adaptor L3 False True False Orphanet:320542 adaptor related protein complex 2 subunit sigma 1 False True False Orphanet:320561 Rho guanine nucleotide exchange factor 10 False True False Orphanet:320663 coiled-coil domain containing 88C False True False @@ -2927,7 +3054,6 @@ Orphanet:353369 STAM binding protein False True False Orphanet:353372 DEP domain containing 5, GATOR1 subcomplex subunit False True False Orphanet:353460 tetratricopeptide repeat domain 7A False True False Orphanet:353497 G protein subunit alpha q False True False -Orphanet:353516 DNA topoisomerase II alpha False True False Orphanet:353524 KIAA1549 False True False Orphanet:353548 solute carrier family 1 member 1 False True False Orphanet:353576 ATP synthase F1 subunit alpha False True False @@ -3124,7 +3250,6 @@ Orphanet:377662 STT3 oligosaccharyltransferase complex catalytic subunit A False Orphanet:377672 STT3 oligosaccharyltransferase complex catalytic subunit B False True False Orphanet:377682 GDP-mannose pyrophosphorylase A False True False Orphanet:377743 NADH:ubiquinone oxidoreductase subunit A13 False True False -Orphanet:377752 ATP synthase mitochondrial F1 complex assembly factor 1 False True False Orphanet:390741 centrosome and spindle pole associated protein 1 False True False Orphanet:390746 BBSome interacting protein 1 False True False Orphanet:390756 eukaryotic translation initiation factor 4A3 False True False @@ -3202,7 +3327,7 @@ Orphanet:401879 TATA-box binding protein associated factor 2 False True False Orphanet:401908 T-cell receptor alpha constant False True False Orphanet:401930 tripartite motif containing 2 False True False Orphanet:402368 glutaredoxin and cysteine rich domain containing 2 False True False -Orphanet:402371 epidermal growth factor receptor pathway substrate 8 False True False +Orphanet:402371 EGFR pathway substrate 8, signaling adaptor False True False Orphanet:402379 interleukin 21 False True False Orphanet:402549 RNA binding region (RNP1, RRM) containing 3 False True False Orphanet:402562 nuclear receptor subfamily 2 group F member 2 False True False @@ -3211,7 +3336,7 @@ Orphanet:402648 adaptor related protein complex 1 subunit sigma 3 False True Fal Orphanet:402736 spalt like transcription factor 2 False True False Orphanet:402744 protein tyrosine phosphatase non-receptor type 3 False True False Orphanet:403061 epithelial membrane protein 2 False True False -Orphanet:403096 pre-mRNA processing factor 4 False True False +Orphanet:403096 pre-mRNA splicing tri-snRNP complex factor PRPF4 False True False Orphanet:403187 spinocerebellar ataxia 32 False True False Orphanet:403281 ERCC excision repair 6 like 2 False True False Orphanet:403288 mitochondrial calcium uptake 1 False True False @@ -3367,7 +3492,7 @@ Orphanet:426034 dishevelled segment polarity protein 1 False True False Orphanet:426049 synaptosome associated protein 25 False True False Orphanet:426073 salt inducible kinase 1 False True False Orphanet:426083 hippocalcin False True False -Orphanet:426086 tubulin gamma complex associated protein 4 False True False +Orphanet:426086 tubulin gamma complex component 4 False True False Orphanet:426145 G protein-coupled receptor 161 False True False Orphanet:426564 enoyl-CoA hydratase, short chain 1 False True False Orphanet:426568 nitric oxide synthase 1 False True False @@ -3556,7 +3681,6 @@ Orphanet:456808 dishevelled segment polarity protein 3 False True False Orphanet:456826 nucleoporin 93 False True False Orphanet:456828 nucleoporin 205 False True False Orphanet:456982 bone morphogenetic protein 6 False True False -Orphanet:456990 lipoyl(octanoyl) transferase 2 False True False Orphanet:456998 mitochondrial pyruvate carrier 1 False True False Orphanet:457009 carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase False True False Orphanet:457065 solute carrier family 9 member A1 False True False @@ -3574,7 +3698,6 @@ Orphanet:457562 distal-less homeobox 4 False True False Orphanet:457568 inositol polyphosphate multikinase False True False Orphanet:457570 clathrin heavy chain like 1 False True False Orphanet:457585 heterogeneous nuclear ribonucleoprotein K False True False -Orphanet:457688 EPH receptor A4 False True False Orphanet:457735 LIM domain only 1 False True False Orphanet:458247 PLAG1 zinc finger False True False Orphanet:458253 nth like DNA glycosylase 1 False True False @@ -3654,12 +3777,13 @@ Orphanet:469050 ubiquitin like modifier activating enzyme 5 False True False Orphanet:469057 glutamate ionotropic receptor NMDA type subunit 2D False True False Orphanet:469582 component of inhibitor of nuclear factor kappa B kinase complex False True False Orphanet:469734 NME/NM23 family member 7 False True False -Orphanet:469890 ATP binding cassette subfamily C member 1 False True False +Orphanet:469890 ATP binding cassette subfamily C member 1 (ABCC1 blood group) False True False Orphanet:469928 adenylosuccinate synthase 1 False True False Orphanet:469930 argonaute RISC component 1 False True False Orphanet:469932 argonaute 2, RISC catalytic component False True False Orphanet:469946 ankyrin repeat and sterile alpha motif domain containing 3 False True False Orphanet:469950 adaptor related protein complex 3 subunit delta 1 False True False +Orphanet:469958 archain 1 False True False Orphanet:469962 AT-rich interaction domain 2 False True False Orphanet:469968 ATPase family AAA domain containing 3A False True False Orphanet:469974 axin 1 False True False @@ -3675,27 +3799,28 @@ Orphanet:470040 coiled-coil domain containing 115 False True False Orphanet:470042 coiled-coil domain containing 174 False True False Orphanet:470052 CD70 molecule False True False Orphanet:470056 cell division cycle 42 False True False +Orphanet:470064 cadherin EGF LAG seven-pass G-type receptor 1 False True False Orphanet:470084 chromodomain helicase DNA binding protein 4 False True False Orphanet:470086 chromodomain helicase DNA binding protein 5 False True False Orphanet:470098 calcium and integrin binding 1 False True False Orphanet:470102 CDKN1A interacting zinc finger protein 1 False True False +Orphanet:470116 collagen beta(1-O)galactosyltransferase 1 False True False Orphanet:470128 coenzyme Q7, hydroxylase False True False Orphanet:470140 casein kinase 2 alpha 1 False True False Orphanet:470146 catenin delta 1 False True False Orphanet:470150 cut like homeobox 1 False True False Orphanet:470152 cut like homeobox 2 False True False -Orphanet:470170 death domain associated protein False True False Orphanet:470180 DEAD-box helicase 41 False True False Orphanet:470184 DEAH-box helicase 38 False True False Orphanet:470200 DLEC1 cilia and flagella associated protein False True False Orphanet:470204 discs large MAGUK scaffold protein 1 False True False Orphanet:470220 distal-less homeobox 6 False True False -Orphanet:470228 doublesex and mab-3 related transcription factor 3 False True False Orphanet:470234 dynein axonemal heavy chain 10 False True False Orphanet:470266 eukaryotic translation initiation factor 2 subunit gamma False True False Orphanet:470272 ER membrane protein complex subunit 1 False True False Orphanet:470274 elastin microfibril interfacer 1 False True False Orphanet:470286 erythropoietin False True False +Orphanet:470292 erbb2 interacting protein False True False Orphanet:470322 F-box protein 28 False True False Orphanet:470342 flavin adenine dinucleotide synthetase 1 False True False Orphanet:470348 forkhead box A2 False True False @@ -3737,6 +3862,7 @@ Orphanet:470698 methenyltetrahydrofolate synthetase False True False Orphanet:470718 myelin regulatory factor False True False Orphanet:470720 Myb like, SWIRM and MPN domains 1 False True False Orphanet:470722 myelin transcription factor 1 like False True False +Orphanet:470724 N-alpha-acetyltransferase 15, NatA auxiliary subunit False True False Orphanet:470736 NADH:ubiquinone oxidoreductase subunit A6 False True False Orphanet:470748 NADH:ubiquinone oxidoreductase subunit B10 False True False Orphanet:470768 NEDD4 like E3 ubiquitin protein ligase False True False @@ -3744,6 +3870,7 @@ Orphanet:470770 nuclear factor of activated T cells 5 False True False Orphanet:470780 NIPA magnesium transporter 2 False True False Orphanet:470800 netrin 1 False True False Orphanet:470810 obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF False True False +Orphanet:470826 prolyl 4-hydroxylase, transmembrane False True False Orphanet:470828 phosphofurin acidic cluster sorting protein 2 False True False Orphanet:470872 progesterone receptor membrane component 1 False True False Orphanet:470874 pleckstrin homology domain interacting protein False True False @@ -3755,6 +3882,7 @@ Orphanet:470934 poly(U) binding splicing factor 60 False True False Orphanet:470948 Rac family small GTPase 1 False True False Orphanet:470980 capping protein regulator and myosin 1 linker 2 False True False Orphanet:470984 ring finger protein 170 False True False +Orphanet:470992 RAR related orphan receptor A False True False Orphanet:470996 RAR related orphan receptor C False True False Orphanet:470998 ribosomal protein L27 False True False Orphanet:471000 ribosomal protein L31 False True False @@ -3769,7 +3897,7 @@ Orphanet:471062 SIN3 transcription regulator family member A False True False Orphanet:471070 solute carrier family 18 member A3 False True False Orphanet:471072 solute carrier family 1 member 2 False True False Orphanet:471076 solute carrier family 25 member 32 False True False -Orphanet:471078 solute carrier family 27 member 5 False True False +Orphanet:471090 solute carrier family 4 member 10 False True False Orphanet:471096 solute carrier family 6 member 14 False True False Orphanet:471110 schlafen family member 14 False True False Orphanet:471112 SMAD family member 2 False True False @@ -3789,6 +3917,7 @@ Orphanet:471214 transferrin receptor False True False Orphanet:471224 translocase of inner mitochondrial membrane domain containing 1 False True False Orphanet:471232 transmembrane protein 107 False True False Orphanet:471234 transmembrane protein 199 False True False +Orphanet:471244 TNF receptor superfamily member 9 False True False Orphanet:471250 tryptophan 2,3-dioxygenase False True False Orphanet:471260 trio Rho guanine nucleotide exchange factor False True False Orphanet:471262 thyroid hormone receptor interactor 12 False True False @@ -3809,7 +3938,6 @@ Orphanet:474406 dynein cytoplasmic 2 light intermediate chain 1 False True False Orphanet:474419 estrogen receptor 2 False True False Orphanet:474429 podocalyxin like False True False Orphanet:474467 G protein-coupled receptor 68 False True False -Orphanet:474489 complement factor H related 4 False True False Orphanet:475300 polycystin 1 like 1, transient receptor potential channel interacting False True False Orphanet:476149 KIAA0753 False True False Orphanet:476167 membrane bound O-acyltransferase domain containing 7 False True False @@ -3876,7 +4004,7 @@ Orphanet:485554 ATPase H+ transporting V1 subunit A False True False Orphanet:485563 ssu-2 homolog False True False Orphanet:485569 Rho/Rac guanine nucleotide exchange factor 18 False True False Orphanet:486844 collectin subfamily member 10 False True False -Orphanet:486881 chromosome 12 open reading frame 4 False True False +Orphanet:486881 FERRY endosomal RAB5 effector complex subunit 3 False True False Orphanet:486883 alpha 2-HS glycoprotein False True False Orphanet:486889 keratinocyte differentiation factor 1 False True False Orphanet:486955 Rare pediatric rheumatologic disease False True False @@ -3927,7 +4055,7 @@ Orphanet:492445 receptor tyrosine kinase like orphan receptor 1 False True False Orphanet:492456 WW domain binding protein 2 False True False Orphanet:492464 solute carrier family 44 member 4 False True False Orphanet:492474 DAZ interacting zinc finger protein 1 like False True False -Orphanet:492482 EPS8 like 2 False True False +Orphanet:492482 EPS8 signaling adaptor L2 False True False Orphanet:492557 intraflagellar transport 88 False True False Orphanet:492567 progesterone immunomodulatory binding factor 1 False True False Orphanet:492579 calpain 1 False True False @@ -3960,6 +4088,7 @@ Orphanet:494241 zona pellucida glycoprotein 3 False True False Orphanet:494252 fms related receptor tyrosine kinase 1 False True False Orphanet:494881 cyclin dependent kinase 13 False True False Orphanet:494894 G protein subunit beta 1 False True False +Orphanet:494899 EBF transcription factor 3 False True False Orphanet:494915 glutamine rich 1 False True False Orphanet:494919 SET nuclear proto-oncogene False True False Orphanet:494927 SET domain containing 1A, histone lysine methyltransferase False True False @@ -3974,7 +4103,7 @@ Orphanet:495724 WD repeat domain 1 False True False Orphanet:495760 tryptophanyl-tRNA synthetase 1 False True False Orphanet:495783 roundabout guidance receptor 1 False True False Orphanet:496171 ferric chelate reductase 1 like False True False -Orphanet:496177 phosphatidylinositol glycan anchor biosynthesis class G False True False +Orphanet:496177 phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) False True False Orphanet:496461 SIX homeobox 2 False True False Orphanet:496652 O-sialoglycoprotein endopeptidase False True False Orphanet:496659 TP53 regulating kinase False True False @@ -4029,7 +4158,6 @@ Orphanet:506216 Rare disorder potentially indicated for bowel transplant False T Orphanet:506219 Rare disorder potentially indicated for hematopoietic stem cell transplant False True False Orphanet:506222 Rare disorder potentially indicated for lung transplant False True False Orphanet:506225 Rare disorder potentially indicated for heart transplant False True False -Orphanet:506368 ARV1 homolog, fatty acid homeostasis modulator False True False Orphanet:506401 gamma-glutamyltransferase 1 False True False Orphanet:506519 cyclin dependent kinase 19 False True False Orphanet:507587 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 False True False @@ -4048,6 +4176,7 @@ Orphanet:508071 FGF1 intracellular binding protein False True False Orphanet:508638 alkaline ceramidase 3 False True False Orphanet:508692 misato mitochondrial distribution and morphology regulator 1 False True False Orphanet:508711 zinc finger protein 462 False True False +Orphanet:508946 BCL11 transcription factor B False True False Orphanet:508970 cadherin 2 False True False Orphanet:508976 chromodomain helicase DNA binding protein 1 False True False Orphanet:509002 EPH receptor B4 False True False @@ -4064,6 +4193,7 @@ Orphanet:509234 receptor interacting serine/threonine kinase 1 False True False Orphanet:509236 ring finger protein 2 False True False Orphanet:509258 suppressor of cytokine signaling 1 False True False Orphanet:509260 spen family transcriptional repressor False True False +Orphanet:509262 speckle type BTB/POZ protein False True False Orphanet:509296 TNF receptor associated factor 7 False True False Orphanet:509298 transformation/transcription domain associated protein False True False Orphanet:509320 zinc and ring finger 3 False True False @@ -4080,6 +4210,7 @@ Orphanet:510896 CD55 molecule (Cromer blood group) False True False Orphanet:512271 canopy FGF signaling regulator 3 False True False Orphanet:512453 dihydrolipoamide S-succinyltransferase False True False Orphanet:512465 ATP synthase F1 subunit delta False True False +Orphanet:512501 cytochrome c oxidase assembly factor COX16 False True False Orphanet:512553 YME1 like 1 ATPase False True False Orphanet:513401 glycoprotein nmb False True False Orphanet:513418 STING1 ER exit protein 1 False True False @@ -4088,7 +4219,6 @@ Orphanet:513968 castor zinc finger 1 False True False Orphanet:513988 forkhead box J1 False True False Orphanet:514000 jumonji and AT-rich interaction domain containing 2 False True False Orphanet:514006 latent transforming growth factor beta binding protein 1 False True False -Orphanet:514010 MLX interacting protein like False True False Orphanet:514012 muscle RAS oncogene homolog False True False Orphanet:514016 non-SMC condensin II complex subunit D3 False True False Orphanet:514052 tripartite motif containing 71 False True False @@ -4208,6 +4338,7 @@ Orphanet:529292 H2.0 like homeobox False True False Orphanet:529328 GDNF inducible zinc finger protein 1 False True False Orphanet:529590 ALG5 dolichyl-phosphate beta-glucosyltransferase False True False Orphanet:529620 ferredoxin reductase False True False +Orphanet:529660 ATPase family AAA domain containing 3B False True False Orphanet:529710 ATP synthase membrane subunit k False True False Orphanet:529730 cytochrome c oxidase subunit 6A2 False True False Orphanet:529744 NADH:ubiquinone oxidoreductase complex assembly factor 8 False True False @@ -4335,6 +4466,7 @@ Orphanet:572348 basonuclin zinc finger protein 1 False True False Orphanet:572371 membrane associated ring-CH-type finger 6 False True False Orphanet:572405 DExH-box helicase 30 False True False Orphanet:572412 glutamate ionotropic receptor AMPA type subunit 4 False True False +Orphanet:572421 heterogeneous nuclear ribonucleoprotein H2 False True False Orphanet:572477 bridge-like lipid transfer protein family member 1 False True False Orphanet:572486 peptidase, mitochondrial processing subunit beta False True False Orphanet:573010 upstream transcription factor family member 3 False True False @@ -4349,6 +4481,7 @@ Orphanet:580928 plastin 1 False True False Orphanet:580943 tetratricopeptide repeat domain 29 False True False Orphanet:581332 NIMA related kinase 10 False True False Orphanet:583333 angiopoietin 2 False True False +Orphanet:584317 ceramide transporter 1 False True False Orphanet:585329 F-box and WD repeat domain containing 4 False True False Orphanet:585336 mannosidase alpha class 2C member 1 False True False Orphanet:585349 interferon regulatory factor 2 binding protein like False True False @@ -4376,6 +4509,7 @@ Orphanet:587138 azoospermia factor 1 False True False Orphanet:587142 FAT atypical cadherin 2 False True False Orphanet:587177 protein tyrosine phosphatase non-receptor type 23 False True False Orphanet:594386 discs large MAGUK scaffold protein 4 False True False +Orphanet:594394 dedicator of cytokinesis 11 False True False Orphanet:594424 FCH and mu domain containing endocytic adaptor 1 False True False Orphanet:594489 interleukin 6 receptor False True False Orphanet:594573 NCK associated protein 1 like False True False @@ -4389,6 +4523,7 @@ Orphanet:596998 C-terminal binding protein 1 False True False Orphanet:597004 RNA polymerase I subunit B False True False Orphanet:597032 cell cycle associated protein 1 False True False Orphanet:597034 NME/NM23 family member 5 False True False +Orphanet:597042 ribosomal protein L13 False True False Orphanet:599070 RAB, member of RAS oncogene family like 3 False True False Orphanet:599155 thioredoxin domain containing 15 False True False Orphanet:599174 mesoderm development LRP chaperone False True False @@ -4396,7 +4531,6 @@ Orphanet:599181 prolyl 4-hydroxylase subunit alpha 2 False True False Orphanet:599195 FKBP prolyl isomerase family member 6 (inactive) False True False Orphanet:599197 VPS37D subunit of ESCRT-I False True False Orphanet:599199 DnaJ heat shock protein family (Hsp40) member C30 False True False -Orphanet:599201 BAF chromatin remodeling complex subunit BCL7B False True False Orphanet:599209 eukaryotic translation initiation factor 4H False True False Orphanet:599213 BUD23 rRNA methyltransferase and ribosome maturation factor False True False Orphanet:599215 methyltransferase like 27 False True False @@ -4413,6 +4547,7 @@ Orphanet:599932 TSPO associated protein 1 False True False Orphanet:600014 phosphate cytidylyltransferase 2, ethanolamine False True False Orphanet:600016 ubiquitin associated protein 1 False True False Orphanet:600062 mitogen-activated protein kinase 8 interacting protein 3 False True False +Orphanet:600070 ATPase family AAA domain containing 3C False True False Orphanet:600094 phosphatidylserine decarboxylase False True False Orphanet:600112 trafficking protein particle complex subunit 10 False True False Orphanet:600142 A-kinase anchoring protein 4 False True False @@ -4422,19 +4557,25 @@ Orphanet:600209 cilia and flagella associated protein 47 False True False Orphanet:600231 eukaryotic translation elongation factor 1 beta 2 False True False Orphanet:600279 GS homeobox 2 False True False Orphanet:600291 H4 clustered histone 3 False True False +Orphanet:600297 heterogeneous nuclear ribonucleoprotein R False True False Orphanet:600313 lysine acetyltransferase 8 False True False Orphanet:600321 RIC1 homolog, RAB6A GEF complex partner 1 False True False Orphanet:600395 netrin G2 False True False +Orphanet:600435 POU class 3 homeobox 3 False True False Orphanet:600439 protein phosphatase 2 catalytic subunit alpha False True False +Orphanet:600449 proline rich 12 False True False Orphanet:600475 SR-related CTD associated factor 4 False True False Orphanet:600529 tetratricopeptide repeat domain 5 False True False Orphanet:600533 ubiquitin protein ligase E3 component n-recognin 7 False True False Orphanet:600541 WASP family member 1 False True False +Orphanet:600559 zinc finger protein 142 False True False Orphanet:600577 G protein subunit beta 2 False True False Orphanet:600633 H4 clustered histone 5 False True False Orphanet:600635 H4 clustered histone 9 False True False Orphanet:600645 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta False True False Orphanet:600655 LSM11, U7 small nuclear RNA associated False True False +Orphanet:600904 Sp6 transcription factor False True False +Orphanet:600936 ubiquitin like with PHD and ring finger domains 1 False True False Orphanet:600946 fibroblast growth factor 13 False True False Orphanet:601404 protein kinase C zeta False True False Orphanet:601410 ubiquitination factor E4B False True False @@ -4448,7 +4589,7 @@ Orphanet:601796 CUGBP Elav-like family member 2 False True False Orphanet:601798 von Willebrand factor A domain containing 1 False True False Orphanet:601801 GIPC PDZ domain containing family member 1 False True False Orphanet:602220 serpin family A member 12 False True False -Orphanet:602223 chibby family member 1, beta catenin antagonist False True False +Orphanet:602223 chibby 1, beta catenin antagonist False True False Orphanet:602226 metaxin 2 False True False Orphanet:602231 Yip1 domain family member 5 False True False Orphanet:602235 protein associated with LIN7 1, MAGUK p55 family member False True False @@ -4490,7 +4631,7 @@ Orphanet:613329 LMBR1 domain containing 2 False True False Orphanet:613332 calcium voltage-gated channel subunit alpha1 I False True False Orphanet:613338 HEAT repeat containing 3 False True False Orphanet:613714 biogenesis of lysosomal organelles complex 1 subunit 5 False True False -Orphanet:614200 'RNA, U7 small nuclear 1' False True False +Orphanet:614200 RNA, U7 small nuclear 1 False True False Orphanet:614208 ubiquitin like modifier activating enzyme 2 False True False Orphanet:614986 pyruvate dehydrogenase E1 subunit alpha 2 False True False Orphanet:615220 yrdC N6-threonylcarbamoyltransferase domain containing False True False @@ -4612,7 +4753,7 @@ Orphanet:650040 ciliogenesis associated TTC17 interacting protein False True Fal Orphanet:650043 ring finger protein 212 False True False Orphanet:650045 telomere repeat binding bouquet formation protein 1 False True False Orphanet:650047 telomere repeat binding bouquet formation protein 2 False True False -Orphanet:650049 Mov10 like RISC complex RNA helicase 1 False True False +Orphanet:650049 Mov10 like RNA helicase 1 False True False Orphanet:650051 F-box protein 43 False True False Orphanet:650053 zona pellucida binding protein False True False Orphanet:650055 C2 calcium dependent domain containing 6 False True False @@ -4626,6 +4767,24 @@ Orphanet:652510 Genetic autoinflammatory syndrome with acne and/or hidradenitis Orphanet:652816 serine/arginine repetitive matrix 2 False True False Orphanet:653434 Autoinflammatory syndrome with acne and/or hidradenitis suppurativa False True False Orphanet:653915 zinc finger homeobox 2 False True False +Orphanet:660030 PR/SET domain 10 False True False +Orphanet:660763 angiomotin like 1 False True False +Orphanet:662194 heterogeneous nuclear ribonucleoprotein C False True False +Orphanet:662222 arylsulfatase family member K False True False +Orphanet:663289 actin related protein 2/3 complex subunit 4 False True False +Orphanet:663458 chromodomain helicase DNA binding protein 6 False True False +Orphanet:663850 N-ribosyldihydronicotinamide:quinone dehydrogenase 2 False True False +Orphanet:663868 potassium voltage-gated channel subfamily C member 2 False True False +Orphanet:663910 ciliated left-right organizer metallopeptidase False True False +Orphanet:663918 ATPase H+ transporting V0 subunit a1 False True False +Orphanet:664482 Primary hemophagocytic lymphohistiocytosis without hypopigmentation False True False +Orphanet:672842 guided entry of tail-anchored proteins factor 3, ATPase False True False +Orphanet:674734 lysine methyltransferase 5B False True False +Orphanet:676458 FosB proto-oncogene, AP-1 transcription factor subunit False True False +Orphanet:676489 RNA binding motif protein X-linked False True False +Orphanet:677320 cyclin dependent kinase 8 False True False +Orphanet:682951 toll like receptor 8 False True False +Orphanet:683067 mab-21 like 1 False True False Orphanet:90051 Sepsis in premature infants False True False Orphanet:90052 Recurrent hepatitis C virus induced liver disease in liver transplant recipients False True False Orphanet:90053 Complications after hematopoietic stem cell transplantation False True False @@ -4700,7 +4859,6 @@ Orphanet:1211 OBSOLETE: Atrichia-mental and growth delay syndrome False True Tru Orphanet:1219 Aurocephalosyndactyly False True True Orphanet:1232 NON RARE IN EUROPE: Barrett esophagus False True True Orphanet:1235 OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome False True True -Orphanet:1239 OBSOLETE: Behr syndrome False True True Orphanet:1244 NON RARE IN EUROPE: Bicuspid aortic valve False True True Orphanet:1249 OBSOLETE: Binswanger disease False True True Orphanet:1250 OBSOLETE: Blaichman syndrome False True True @@ -5827,8 +5985,8 @@ Orphanet:100013 Lissencephaly with cerebellar hypoplasia type C True False False Orphanet:100014 Lissencephaly with cerebellar hypoplasia type D True False False Orphanet:100015 Lissencephaly with cerebellar hypoplasia type E True False False Orphanet:100016 Lissencephaly with cerebellar hypoplasia type F True False False -Orphanet:100019 Refractory anemia with excess blasts type 1 True False False -Orphanet:100020 Refractory anemia with excess blasts type 2 True False False +Orphanet:100019 Myelodysplastic neoplasm with increased blasts type 1 True False False +Orphanet:100020 Myelodysplastic neoplasm with increased blasts type 2 True False False Orphanet:100021 Primary plasmacytoma of the bone True False False Orphanet:100022 Extramedullary soft tissue plasmacytoma True False False Orphanet:100024 Mu-heavy chain disease True False False @@ -5944,7 +6102,6 @@ Orphanet:101089 Hyper-IgM syndrome type 2 True False False Orphanet:101090 Hyper-IgM syndrome type 3 True False False Orphanet:101091 Hyper-IgM syndrome type 4 True False False Orphanet:101092 Hyper-IgM syndrome type 5 True False False -Orphanet:101096 Aregenerative anemia True False False Orphanet:101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness True False False Orphanet:101101 Charcot-Marie-Tooth disease type 2B2 True False False Orphanet:101102 Charcot-Marie-Tooth disease type 2H True False False @@ -5974,7 +6131,7 @@ Orphanet:101940 Rare metabolic liver disease True False False Orphanet:101941 Rare biliary tract disease True False False Orphanet:101943 Rare hepatic and biliary tract tumor True False False Orphanet:101944 Rare pulmonary disease True False False -Orphanet:101945 Rare bronchopulmonary tumor True False False +Orphanet:101945 Rare bronchopulmonary and pleural cavity tumors True False False Orphanet:101950 Rare eye tumor True False False Orphanet:101952 Rare diabetes mellitus True False False Orphanet:101953 Rare dyslipidemia True False False @@ -6191,7 +6348,6 @@ Orphanet:1234 Bartsocas-Papas syndrome True False False Orphanet:1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome True False False Orphanet:1237 Beemer-Ertbruggen syndrome True False False Orphanet:124 Diamond-Blackfan anemia True False False -Orphanet:1240 Metaphyseal acroscyphodysplasia True False False Orphanet:1241 Bencze syndrome True False False Orphanet:1243 Best vitelliform macular dystrophy True False False Orphanet:1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome True False False @@ -6298,7 +6454,7 @@ Orphanet:137678 Spondyloepiphyseal dysplasia with metatarsal shortening True Fal Orphanet:137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 True False False Orphanet:137686 Asherman syndrome True False False Orphanet:1377 Cataract-microcornea syndrome True False False -Orphanet:137754 Neurological conditions associated with aminoacylase 1 deficiency True False False +Orphanet:137754 Aminoacylase 1 deficiency True False False Orphanet:137776 Lethal congenital contracture syndrome type 2 True False False Orphanet:137783 Lethal congenital contracture syndrome type 3 True False False Orphanet:137807 Primary cutaneous amyloidosis True False False @@ -6321,7 +6477,7 @@ Orphanet:137920 Choanal atresia, bilateral True False False Orphanet:137926 Primary laryngeal lymphangioma True False False Orphanet:137929 Neonatal brainstem dysfunction True False False Orphanet:137932 Congenital laryngeal palsy True False False -Orphanet:137935 Laryngotracheal angioma True False False +Orphanet:137935 Airway infantile hemangioma True False False Orphanet:138 CHARGE syndrome True False False Orphanet:1380 Cataract-nephropathy-encephalopathy syndrome True False False Orphanet:138041 Pierre Robin syndrome associated with collagen disease True False False @@ -6483,11 +6639,9 @@ Orphanet:141269 Lateral facial cleft True False False Orphanet:141276 Tessier number 7 facial cleft True False False Orphanet:141288 Midline cervical cleft True False False Orphanet:141291 Cleft lip and alveolus True False False -Orphanet:141327 Orofaciodigital syndrome type 12 True False False -Orphanet:141330 Orofaciodigital syndrome type 13 True False False Orphanet:141333 Biemond syndrome type 2 True False False Orphanet:1414 Cholestasis-lymphedema syndrome True False False -Orphanet:1415 Cholestasis-pigmentary retinopathy-cleft palate syndrome True False False +Orphanet:1415 Hardikar syndrome True False False Orphanet:1416 Familial calcium pyrophosphate deposition True False False Orphanet:142 Anaplastic thyroid carcinoma True False False Orphanet:1422 Chondrodysplasia-difference of sex development syndrome True False False @@ -6521,8 +6675,7 @@ Orphanet:1451 CINCA syndrome True False False Orphanet:1452 Cleidocranial dysplasia True False False Orphanet:1453 Cleidorhizomelic syndrome True False False Orphanet:1454 Joubert syndrome with hepatic defect True False False -Orphanet:1455 Autosomal dominant coarctation of aorta True False False -Orphanet:1456 Atypical coarctation of aorta True False False +Orphanet:1456 Middle aortic syndrome True False False Orphanet:1457 Aorta coarctation True False False Orphanet:1458 CODAS syndrome True False False Orphanet:1459 Celiac disease-epilepsy-cerebral calcification syndrome True False False @@ -6618,7 +6771,6 @@ Orphanet:156174 Retinal ciliopathy due to mutation in the RPGRIP gene True False Orphanet:156177 Retinal ciliopathy due to mutation in Usher gene True False False Orphanet:156180 Retinal ciliopathy due to mutation in nephronophthisis gene True False False Orphanet:156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene True False False -Orphanet:1562 Dacryocystitis-osteopoikilosis syndrome True False False Orphanet:156202 Otomandibular dysplasia associated with monogenic syndromes True False False Orphanet:156207 Macroglossia True False False Orphanet:156212 Hypoglossia/aglossia True False False @@ -6662,7 +6814,7 @@ Orphanet:157794 Hereditary mixed polyposis syndrome True False False Orphanet:157798 Serrated polyposis syndrome True False False Orphanet:1578 Pterin-4 alpha-carbinolamine dehydratase deficiency True False False Orphanet:157801 Mesoaxial synostotic syndactyly with phalangeal reduction True False False -Orphanet:157808 Congenital pseudoarthrosis of the limbs True False False +Orphanet:157808 Isolated pseudoarthrosis of the limbs True False False Orphanet:157820 Cold-induced sweating syndrome True False False Orphanet:157823 Klüver-Bucy syndrome True False False Orphanet:157826 Congenital epulis True False False @@ -6722,8 +6874,8 @@ Orphanet:160 Castleman disease True False False Orphanet:1600 Monosomy 18q True False False Orphanet:160148 Cap polyposis True False False Orphanet:1606 1p36 deletion syndrome True False False -Orphanet:1617 2q24 microdeletion syndrome True False False -Orphanet:162 Cataract-glaucoma syndrome True False False +Orphanet:1617 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion True False False +Orphanet:162 Congenital cataract-anterior segment dysgenesis syndrome True False False Orphanet:1620 Distal deletion 3p True False False Orphanet:1621 3q13 microdeletion syndrome True False False Orphanet:162516 Isolated congenital nasal pyriform aperture stenosis True False False @@ -6774,7 +6926,7 @@ Orphanet:164001 Rare odontal or periodontal disorder True False False Orphanet:164004 Middle and/or inner ear anomaly True False False Orphanet:1642 Distal deletion 9p True False False Orphanet:1643 Xp22.3 microdeletion syndrome True False False -Orphanet:1646 Partial chromosome Y deletion True False False +Orphanet:1646 Chromosome Y microdeletion True False False Orphanet:1647 Oculocerebrocutaneous syndrome True False False Orphanet:164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation True False False Orphanet:164736 Familial advanced sleep-phase syndrome True False False @@ -6801,11 +6953,10 @@ Orphanet:165991 Exercise-induced hyperinsulinism True False False Orphanet:166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy True False False Orphanet:1660 Dermoodontodysplasia True False False Orphanet:166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly True False False -Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type True False False Orphanet:166016 Multiple epiphyseal dysplasia, Lowry type True False False -Orphanet:166024 Multiple epiphyseal dysplasia, Al-Gazali type True False False -Orphanet:166029 Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia True False False -Orphanet:166032 Multiple epiphyseal dysplasia, with miniepiphyses True False False +Orphanet:166024 Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome True False False +Orphanet:166029 Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome True False False +Orphanet:166032 Multiple epiphyseal dysplasia-miniepiphyses syndrome True False False Orphanet:166035 Brachydactyly-short stature-retinitis pigmentosa syndrome True False False Orphanet:166038 Metaphyseal chondrodysplasia, Kaitila type True False False Orphanet:166063 Pontocerebellar hypoplasia type 4 True False False @@ -6879,8 +7030,6 @@ Orphanet:1682 Arterial dissection-lentiginosis syndrome True False False Orphanet:168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome True False False Orphanet:168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome True False False Orphanet:168454 Spondyloepimetaphyseal dysplasia, Geneviève type True False False -Orphanet:168486 Congenital neuronal ceroid lipofuscinosis True False False -Orphanet:168491 Late infantile neuronal ceroid lipofuscinosis True False False Orphanet:1685 Distomatosis True False False Orphanet:168544 Spondylometaphyseal dysplasia, Golden type True False False Orphanet:168549 Axial spondylometaphyseal dysplasia True False False @@ -6910,7 +7059,7 @@ Orphanet:168782 Childhood disintegrative disorder True False False Orphanet:168796 Heart-hand syndrome, Slovenian type True False False Orphanet:168803 Primary peritoneal tumor True False False Orphanet:168811 Malignant peritoneal mesothelioma True False False -Orphanet:168816 Peritoneal cystic mesothelioma True False False +Orphanet:168816 Peritoneal inclusion cyst True False False Orphanet:168829 Primary peritoneal carcinoma True False False Orphanet:168940 Chronic eosinophilic leukemia True False False Orphanet:168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement True False False @@ -6930,7 +7079,7 @@ Orphanet:169100 Immunodeficiency due to CD25 deficiency True False False Orphanet:169105 Good syndrome True False False Orphanet:169110 Immunoglobulin heavy chain deficiency True False False Orphanet:169139 Transient hypogammaglobulinemia of infancy True False False -Orphanet:169142 Recurrent infection due to specific granule deficiency True False False +Orphanet:169142 Recurrent infections due to specific granule deficiency True False False Orphanet:169147 Immunodeficiency due to a classical component pathway complement deficiency True False False Orphanet:169150 Immunodeficiency due to a late component of complement deficiency True False False Orphanet:169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency True False False @@ -7025,7 +7174,6 @@ Orphanet:1759 Thoraco-abdominal enteric duplication True False False Orphanet:176 Non-rhizomelic chondrodysplasia punctata True False False Orphanet:1762 Proximal Xq28 duplication syndrome True False False Orphanet:1764 Familial dysautonomia True False False -Orphanet:1765 Dyschondrosteosis-nephritis syndrome True False False Orphanet:1766 Dysequilibrium syndrome True False False Orphanet:1768 Familial caudal dysgenesis True False False Orphanet:177 Rhizomelic chondrodysplasia punctata True False False @@ -7046,7 +7194,7 @@ Orphanet:177929 Bleeding disorder in hemophilia B carriers True False False Orphanet:178 Chordoma True False False Orphanet:1780 Thakker-Donnai syndrome True False False Orphanet:178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations True False False -Orphanet:178029 Central diabetes insipidus True False False +Orphanet:178029 Arginine vasopressin deficiency True False False Orphanet:178040 Rare peripheral precocious puberty True False False Orphanet:178045 Transient congenital hypothyroidism True False False Orphanet:178145 Moderate multiminicore disease with hand involvement True False False @@ -7076,7 +7224,6 @@ Orphanet:178475 Wound botulism True False False Orphanet:178478 Infant botulism True False False Orphanet:178481 Intestinal botulism True False False Orphanet:178487 Adult intestinal botulism True False False -Orphanet:178493 Myopic macular degeneration True False False Orphanet:178506 Brain calcification, Rajab type True False False Orphanet:178509 Perry syndrome True False False Orphanet:178512 Folliculotropic mycosis fungoides True False False @@ -7099,7 +7246,7 @@ Orphanet:1794 Oculomaxillofacial dysostosis True False False Orphanet:179490 Obesity due to congenital leptin resistance True False False Orphanet:179494 Obesity due to leptin receptor gene deficiency True False False Orphanet:1797 Autosomal dominant spondylocostal dysostosis True False False -Orphanet:1798 Dysostosis, Stanescu type True False False +Orphanet:1798 Craniofacial dysostosis-diaphyseal hyperplasia syndrome True False False Orphanet:1799 Familial developmental dysphasia True False False Orphanet:18 Distal renal tubular acidosis True False False Orphanet:180 Choroideremia True False False @@ -7213,7 +7360,7 @@ Orphanet:1827 Acromelic frontonasal dysplasia True False False Orphanet:182734 Genetic urticaria True False False Orphanet:183 Eosinophilic granulomatosis with polyangiitis True False False Orphanet:1830 Schimke immuno-osseous dysplasia True False False -Orphanet:1832 Lethal osteosclerotic bone dysplasia True False False +Orphanet:1832 Osteosclerotic bone dysplasia True False False Orphanet:1834 Axial mesodermal dysplasia spectrum True False False Orphanet:183422 Polymalformative genetic syndrome with increased risk of developing cancer True False False Orphanet:183426 Genetic epidermal disorder True False False @@ -7279,9 +7426,9 @@ Orphanet:183666 Hyper-IgM syndrome without susceptibility to opportunistic infec Orphanet:183669 Agammaglobulinemia True False False Orphanet:183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency True False False Orphanet:183678 Hermansky-Pudlak syndrome due to AP-3 deficiency True False False -Orphanet:183681 Functional neutrophil defect True False False -Orphanet:1837 Ulna metaphyseal dysplasia syndrome True False False -Orphanet:183707 Neutrophil immunodeficiency syndrome True False False +Orphanet:183681 Congenital functional phagocyte defect True False False +Orphanet:1837 Metaphyseal chondrodysplasia, Rosenberg type True False False +Orphanet:183707 Infantile LAD-like disease due to RAC2 deficiency True False False Orphanet:183710 Genetic susceptibility to infections due to particular pathogens True False False Orphanet:183713 Bacterial susceptibility due to TLR signaling pathway deficiency True False False Orphanet:183731 Rare genetic gynecological and obstetrical diseases True False False @@ -7388,7 +7535,7 @@ Orphanet:1979 Lipodystrophy due to peptidic growth factors deficiency True False Orphanet:198 Occipital horn syndrome True False False Orphanet:1980 Bilateral striopallidodentate calcinosis True False False Orphanet:1986 Gollop-Wolfgang complex True False False -Orphanet:1987 Femoral agenesis/hypoplasia True False False +Orphanet:1987 Isolated femoral agenesis/hypoplasia True False False Orphanet:1988 Femoral-facial syndrome True False False Orphanet:199 Cornelia de Lange syndrome True False False Orphanet:1991 Cleft lip with or without cleft palate True False False @@ -7666,7 +7813,7 @@ Orphanet:210571 Dystonia 16 True False False Orphanet:210576 Congenital temporomandibular joint ankylosis True False False Orphanet:210581 Temporomandibular joint anomaly True False False Orphanet:210584 Spindle cell hemangioma True False False -Orphanet:210589 Infantile hemangioma of rare localization True False False +Orphanet:210589 Rare infantile hemangioma True False False Orphanet:2107 Hall-Riggs syndrome True False False Orphanet:2108 Hallermann-Streiff syndrome True False False Orphanet:2109 Hallermann-Streiff-like syndrome True False False @@ -7695,11 +7842,11 @@ Orphanet:2118 Hawkinsinuria True False False Orphanet:2119 HEC syndrome True False False Orphanet:212 Cystathioninuria True False False Orphanet:2122 Kaposiform hemangioendothelioma True False False -Orphanet:2123 Diffuse neonatal hemangiomatosis True False False +Orphanet:2123 Multifocal infantile hemangioma with extracutenous involvement True False False Orphanet:2126 Solitary fibrous tumor True False False Orphanet:2128 Isolated hemihyperplasia True False False Orphanet:213 Cystinosis True False False -Orphanet:2130 Hemimelia True False False +Orphanet:2130 Non-syndromic hemimelia True False False Orphanet:2131 Alternating hemiplegia of childhood True False False Orphanet:2132 Hemoglobin C disease True False False Orphanet:2133 Hemoglobin E disease True False False @@ -7793,7 +7940,7 @@ Orphanet:217012 Spinocerebellar ataxia type 31 True False False Orphanet:217017 Zechi-Ceide syndrome True False False Orphanet:217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type True False False Orphanet:217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A True False False -Orphanet:217059 Isolated congenital digital clubbing True False False +Orphanet:217059 Isolated nail clubbing True False False Orphanet:217064 5-fluorouracil poisoning True False False Orphanet:217067 Pouchitis True False False Orphanet:217074 Rare carcinoma of pancreas True False False @@ -7906,7 +8053,7 @@ Orphanet:2224 Hypertryptophanemia True False False Orphanet:222628 Hereditary poikiloderma True False False Orphanet:2228 Hypodontia-dysplasia of nails syndrome True False False Orphanet:2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome True False False -Orphanet:223 Nephrogenic diabetes insipidus True False False +Orphanet:223 Arginine vasopressin resistance True False False Orphanet:2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome True False False Orphanet:2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome True False False Orphanet:2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome True False False @@ -7922,7 +8069,6 @@ Orphanet:2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome True Fal Orphanet:2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome True False False Orphanet:2248 Hypoplastic left heart syndrome True False False Orphanet:2249 Ulna hypoplasia-intellectual disability syndrome True False False -Orphanet:225 Maternally-inherited diabetes and deafness True False False Orphanet:2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome True False False Orphanet:2251 Thumb deformity-alopecia-pigmentation anomaly syndrome True False False Orphanet:225123 TFR2-related hemochromatosis True False False @@ -8006,6 +8152,15 @@ Orphanet:228302 Carnitine palmitoyl transferase II deficiency, myopathic form Tr Orphanet:228305 Carnitine palmitoyl transferase II deficiency, severe infantile form True False False Orphanet:228308 Carnitine palmitoyl transferase II deficiency, neonatal form True False False Orphanet:228312 Autoimmune hemolytic anemia, cold type True False False +Orphanet:228329 CLN1 disease True False False +Orphanet:228337 CLN10 disease True False False +Orphanet:228343 CLN4 disease True False False +Orphanet:228346 CLN3 disease True False False +Orphanet:228349 CLN2 disease True False False +Orphanet:228354 CLN8 disease True False False +Orphanet:228360 CLN5 disease True False False +Orphanet:228363 CLN6 disease True False False +Orphanet:228366 CLN7 disease True False False Orphanet:228371 Foodborne botulism True False False Orphanet:228374 Charcot-Marie-Tooth disease type 2B5 True False False Orphanet:228379 Virus-associated trichodysplasia spinulosa True False False @@ -8015,9 +8170,9 @@ Orphanet:228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome True F Orphanet:228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome True False False Orphanet:228399 8q12 microduplication syndrome True False False Orphanet:228402 2q23.1 microdeletion syndrome True False False -Orphanet:228410 Polyvalvular heart disease syndrome True False False +Orphanet:228410 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome True False False Orphanet:228415 5q35 microduplication syndrome True False False -Orphanet:228423 Monocytopenia with susceptibility to infections True False False +Orphanet:228423 GATA2 deficiency spectrum True False False Orphanet:228426 Syndromic multisystem autoimmune disease due to Itch deficiency True False False Orphanet:2285 Primary basilar invagination True False False Orphanet:2287 Fused mandibular incisors True False False @@ -8150,12 +8305,11 @@ Orphanet:2370 Larsen-like osseous dysplasia-short stature syndrome True False Fa Orphanet:2371 Lethal Larsen-like syndrome True False False Orphanet:2372 Laryngocele True False False Orphanet:2373 Congenital laryngomalacia True False False -Orphanet:2374 Congenital laryngeal web True False False +Orphanet:2374 Isolated congenital laryngeal web True False False Orphanet:2375 Laryngeal abductor paralysis-intellectual disability syndrome True False False Orphanet:2377 Laurence-Moon syndrome True False False Orphanet:2378 Laurin-Sandrow syndrome True False False Orphanet:2379 Early-onset parkinsonism-intellectual disability syndrome True False False -Orphanet:238 Digestive duplication True False False Orphanet:2380 Legg-Calvé-Perthes disease True False False Orphanet:2382 Lennox-Gastaut syndrome True False False Orphanet:238269 AApoAII amyloidosis True False False @@ -8207,7 +8361,7 @@ Orphanet:24 Fumaric aciduria True False False Orphanet:240 Léri-Weill dyschondrosteosis True False False Orphanet:2400 Peripheral motor neuropathy-dysautonomia syndrome True False False Orphanet:240071 Classic progressive supranuclear palsy syndrome True False False -Orphanet:240085 Progressive supranuclear palsy-parkinsonism syndrome True False False +Orphanet:240085 Progressive supranuclear palsy-predominant parkinsonism syndrome True False False Orphanet:240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome True False False Orphanet:240103 Progressive supranuclear palsy-corticobasal syndrome True False False Orphanet:240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome True False False @@ -8239,6 +8393,7 @@ Orphanet:2438 Hand-foot-genital syndrome True False False Orphanet:2439 Patterson-Stevenson-Fontaine syndrome True False False Orphanet:244 Primary ciliary dyskinesia True False False Orphanet:2440 Isolated split hand-split foot malformation True False False +Orphanet:2442 X-linked lymphoproliferative disease True False False Orphanet:244242 HELLP syndrome True False False Orphanet:244283 Biliary atresia with splenic malformation syndrome True False False Orphanet:2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies True False False @@ -8343,7 +8498,7 @@ Orphanet:2492 FATCO syndrome True False False Orphanet:2494 Ménétrier disease True False False Orphanet:2495 Meningioma True False False Orphanet:2496 Mesomelia-synostoses syndrome True False False -Orphanet:2497 Upper limb mesomelic dysplasia True False False +Orphanet:2497 Upper limb mesomelic dysplasia, type Fryns True False False Orphanet:2498 Syndactyly type 8 True False False Orphanet:2499 Metachondromatosis True False False Orphanet:25 Glutaryl-CoA dehydrogenase deficiency True False False @@ -8378,7 +8533,7 @@ Orphanet:251028 SATB2-associated syndrome due to a chromosomal rearrangement Tru Orphanet:251038 3q29 microduplication syndrome True False False Orphanet:251043 Ring chromosome 5 syndrome True False False Orphanet:251046 6p22 microdeletion syndrome True False False -Orphanet:251056 6q25 microdeletion syndrome True False False +Orphanet:251056 6q25.2q25.3 microdeletion syndrome True False False Orphanet:251061 7q31 microdeletion syndrome True False False Orphanet:251066 8p11.2 deletion syndrome True False False Orphanet:251071 8p23.1 microdeletion syndrome True False False @@ -8801,7 +8956,7 @@ Orphanet:263458 Hyperinsulinism due to INSR deficiency True False False Orphanet:263463 CHST3-related skeletal dysplasia True False False Orphanet:263479 Fuchs heterochromic iridocyclitis True False False Orphanet:26348 Acquired prothrombin deficiency True False False -Orphanet:263482 Spondyloepiphyseal dysplasia, Maroteaux type True False False +Orphanet:263482 Spondyloepimetaphyseal dysplasia, Maroteaux type True False False Orphanet:263487 COG5-CDG True False False Orphanet:26349 Protein S acquired deficiency True False False Orphanet:263494 DPM3-CDG True False False @@ -8839,13 +8994,11 @@ Orphanet:264431 Partial duplication of the short arm of chromosome 1 True False Orphanet:264450 Trisomy 8p True False False Orphanet:2645 Osteoglosphonic dysplasia True False False Orphanet:264580 Glycogen storage disease due to liver phosphorylase kinase deficiency True False False -Orphanet:2646 Parastremmatic dwarfism True False False Orphanet:264675 Hereditary pulmonary alveolar proteinosis True False False Orphanet:264688 Congenital chylothorax True False False Orphanet:264691 Isolated pulmonary capillaritis True False False Orphanet:264978 Drug or radiation exposure-related interstitial lung disease True False False Orphanet:264992 Genetic interstitial lung disease True False False -Orphanet:2653 Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome True False False Orphanet:2655 Thanatophoric dysplasia True False False Orphanet:2658 Lenz-Majewski hyperostotic dwarfism True False False Orphanet:266 Autosomal dominant limb-girdle muscular dystrophy type 1A True False False @@ -8944,7 +9097,7 @@ Orphanet:270 Oculopharyngeal muscular dystrophy True False False Orphanet:2700 Noma True False False Orphanet:2701 Noonan syndrome-like disorder with loose anagen hair True False False Orphanet:2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome True False False -Orphanet:2704 Ochoa syndrome True False False +Orphanet:2704 Urofacial syndrome True False False Orphanet:2707 Oculocerebrofacial syndrome, Kaufman type True False False Orphanet:2709 Oculodental syndrome, Rutherfurd type True False False Orphanet:2710 Oculodentodigital dysplasia True False False @@ -8960,6 +9113,7 @@ Orphanet:271841 Genetic cardiac tumor True False False Orphanet:271844 Genetic urogenital tumor True False False Orphanet:271847 Genetic neuroendocrine tumor True False False Orphanet:271853 Genetic cardiac anomaly True False False +Orphanet:271861 Hereditary ATTR amyloidosis True False False Orphanet:271870 Rare genetic systemic or rheumatologic disease True False False Orphanet:2719 Oculocerebral hypopigmentation syndrome, Cross type True False False Orphanet:272 Congenital muscular dystrophy, Fukuyama type True False False @@ -8969,7 +9123,6 @@ Orphanet:2722 Odonto-onycho dysplasia-alopecia syndrome True False False Orphanet:2723 Odontotrichomelic syndrome True False False Orphanet:2724 Odontomatosis-aortae esophagus stenosis syndrome True False False Orphanet:2728 Blepharophimosis-intellectual disability syndrome, Ohdo type True False False -Orphanet:2729 Okamoto syndrome True False False Orphanet:273 Steinert myotonic dystrophy True False False Orphanet:2730 Postaxial tetramelic oligodactyly True False False Orphanet:2732 Olivopontocerebellar atrophy-deafness syndrome True False False @@ -8986,15 +9139,13 @@ Orphanet:2749 Oromandibular-limb hypogenesis syndrome True False False Orphanet:275 Severe combined immunodeficiency due to DCLRE1C deficiency True False False Orphanet:2750 Orofaciodigital syndrome type 1 True False False Orphanet:2751 Orofaciodigital syndrome type 2 True False False -Orphanet:2752 Orofaciodigital syndrome type 3 True False False Orphanet:2753 Orofaciodigital syndrome type 4 True False False Orphanet:2754 Orofaciodigital syndrome type 6 True False False Orphanet:2755 Orofaciodigital syndrome type 8 True False False -Orphanet:275517 Autoimmune lymphoproliferative syndrome with recurrent viral infections True False False +Orphanet:275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency True False False Orphanet:275523 Dianzani autoimmune lymphoproliferative disease True False False Orphanet:275543 L1 syndrome True False False Orphanet:275555 Preeclampsia True False False -Orphanet:2756 Orofaciodigital syndrome type 10 True False False Orphanet:275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia True False False Orphanet:275736 Rare hemorrhagic disorder due to a qualitative platelet defect True False False Orphanet:275742 Genetic infertility True False False @@ -9211,7 +9362,7 @@ Orphanet:2838 Renal caliceal diverticuli-deafness syndrome True False False Orphanet:2839 Pelvis-shoulder dysplasia True False False Orphanet:284 Alveolar echinococcosis True False False Orphanet:2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome True False False -Orphanet:2841 Familial benign chronic pemphigus True False False +Orphanet:2841 Hailey-Hailey disease True False False Orphanet:284139 Larsen-like syndrome, B3GAT3 type True False False Orphanet:284149 Craniosynostosis-dental anomalies True False False Orphanet:284160 8q21.11 microdeletion syndrome True False False @@ -9277,7 +9428,6 @@ Orphanet:2872 Cardiocranial syndrome, Pfeiffer type True False False Orphanet:2874 Phakomatosis pigmentokeratotica True False False Orphanet:2875 Phakomatosis pigmentovascularis True False False Orphanet:2876 PHAVER syndrome True False False -Orphanet:2878 Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome True False False Orphanet:2879 Phocomelia, Schinzel type True False False Orphanet:288 Hereditary elliptocytosis True False False Orphanet:2880 Phosphoenolpyruvate carboxykinase deficiency True False False @@ -9330,7 +9480,7 @@ Orphanet:289638 Epstein-Barr Virus-related tumor True False False Orphanet:289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder True False False Orphanet:289651 Epstein-Barr Virus-associated carcinoma True False False Orphanet:289656 Epstein-Barr Virus-associated mesenchymal tumor True False False -Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly True False False +Orphanet:289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma True False False Orphanet:289666 Plasmablastic lymphoma True False False Orphanet:289682 Lymphoepithelial-like carcinoma True False False Orphanet:289685 Myopericytoma True False False @@ -9442,32 +9592,32 @@ Orphanet:294415 Renal-hepatic-pancreatic dysplasia True False False Orphanet:294422 Chronic intestinal failure True False False Orphanet:2946 Brachydactyly-long thumb syndrome True False False Orphanet:2947 Triphalangeal thumbs-brachyectrodactyly syndrome True False False -Orphanet:294925 Amelia True False False -Orphanet:294927 Intercalary limb defects True False False +Orphanet:294925 Non-syndromic amelia True False False +Orphanet:294927 Non-syndromic intercalary limb defects True False False Orphanet:294944 Congenital deformities of limbs True False False Orphanet:294947 Congenital deformities of fingers True False False -Orphanet:294949 Joint formation defects True False False +Orphanet:294949 Non-syndromic joint formation defects True False False Orphanet:294951 Congenital joint dislocations True False False -Orphanet:294953 Non syndromic limb overgrowth True False False +Orphanet:294953 Non-syndromic limb overgrowth True False False Orphanet:294955 Syndrome with limb reduction defects True False False Orphanet:294957 Dysostosis with combined reduction defects of upper and lower limbs True False False Orphanet:294959 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy True False False Orphanet:294963 Popliteal pterygium syndrome True False False Orphanet:294965 Lethal congenital contracture syndrome True False False -Orphanet:294967 Amelia of upper limb True False False -Orphanet:294969 Amelia of lower limb True False False -Orphanet:294971 Tetra-amelia True False False -Orphanet:294973 Humeral agenesis/hypoplasia True False False -Orphanet:294975 Congenital absence of upper arm and forearm with hand present True False False -Orphanet:294977 Congenital absence of thigh and lower leg with foot present True False False -Orphanet:294979 Congenital absence of both forearm and hand True False False -Orphanet:294981 Congenital absence of both lower leg and foot True False False -Orphanet:294983 Acheiria True False False -Orphanet:294986 Apodia True False False -Orphanet:294988 Congenital hypoplasia of thumb True False False +Orphanet:294967 Isolated amelia of upper limb True False False +Orphanet:294969 Isolated amelia of lower limb True False False +Orphanet:294971 Isolated tetra-amelia True False False +Orphanet:294973 Isolated humeral agenesis/hypoplasia True False False +Orphanet:294975 Isolated absence of upper arm and forearm with hand present True False False +Orphanet:294977 Isolated absence of thigh and lower leg with foot present True False False +Orphanet:294979 Isolated absence of both forearm and hand True False False +Orphanet:294981 Isolated absence of both lower leg and foot True False False +Orphanet:294983 Isolated acheiria True False False +Orphanet:294986 Isolated apodia True False False +Orphanet:294988 Isolated hypoplasia of thumb True False False Orphanet:295 Fetal parvovirus syndrome True False False -Orphanet:295000 Constriction rings syndrome True False False -Orphanet:295002 Hyperphalangy True False False +Orphanet:295000 Amniotic band syndrome True False False +Orphanet:295002 Isolated hyperphalangy True False False Orphanet:295004 Central polydactyly True False False Orphanet:295012 Syndactyly type 6 True False False Orphanet:295014 Familial isolated clinodactyly of fingers True False False @@ -9477,7 +9627,7 @@ Orphanet:295020 Congenital pseudoarthrosis of the femur True False False Orphanet:295022 Congenital pseudoarthrosis of the fibula True False False Orphanet:295024 Congenital pseudoarthrosis of the radius True False False Orphanet:295026 Congenital pseudoarthrosis of the ulna True False False -Orphanet:295028 Tibio-fibular synostosis True False False +Orphanet:295028 Isolated tibio-fibular synostosis True False False Orphanet:295030 True congenital shoulder dislocation True False False Orphanet:295032 Isolated congenital radial head dislocation True False False Orphanet:295034 Congenital knee dislocation True False False @@ -9497,10 +9647,6 @@ Orphanet:295199 Synpolydactyly type 3 True False False Orphanet:2952 Adducted thumbs-arthrogryposis syndrome, Christian type True False False Orphanet:295201 Congenital vertical talus, unilateral True False False Orphanet:295203 Congenital vertical talus, bilateral True False False -Orphanet:295213 Humero-ulnar synostosis, unilateral True False False -Orphanet:295215 Humero-ulnar synostosis, bilateral True False False -Orphanet:295217 Radio-ulnar synostosis, unilateral True False False -Orphanet:295219 Radio-ulnar synostosis, bilateral True False False Orphanet:295225 Congenital elbow dislocation, unilateral True False False Orphanet:295227 Congenital elbow dislocation, bilateral True False False Orphanet:295229 Congenital genu recurvatum True False False @@ -9607,7 +9753,7 @@ Orphanet:3015 Radio-renal syndrome True False False Orphanet:3016 Absent radius-anogenital anomalies syndrome True False False Orphanet:3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome True False False Orphanet:3019 Ramon syndrome True False False -Orphanet:302 Epidermodysplasia verruciformis True False False +Orphanet:302 Inherited epidermodysplasia verruciformis True False False Orphanet:3020 Ramsay Hunt syndrome True False False Orphanet:3021 RAPADILINO syndrome True False False Orphanet:3023 External auditory canal atresia-vertical talus-hypertelorism syndrome True False False @@ -9767,7 +9913,7 @@ Orphanet:309192 Tay-Sachs disease, adult form True False False Orphanet:3092 Fixed subaortic stenosis True False False Orphanet:30924 Primary hypomagnesemia with secondary hypocalcemia True False False Orphanet:309246 GM2 gangliosidosis, AB variant True False False -Orphanet:30925 Hereditary central diabetes insipidus True False False +Orphanet:30925 Hereditary arginine vasopressin deficiency True False False Orphanet:309252 Atypical Gaucher disease due to saposin C deficiency True False False Orphanet:309256 Metachromatic leukodystrophy, late infantile form True False False Orphanet:309263 Metachromatic leukodystrophy, juvenile form True False False @@ -9852,7 +9998,7 @@ Orphanet:313781 20p13 microdeletion syndrome True False False Orphanet:313795 Jawad syndrome True False False Orphanet:3138 Ulnar-mammary syndrome True False False Orphanet:313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome True False False -Orphanet:313808 Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia True False False +Orphanet:313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia True False False Orphanet:313838 Coats plus syndrome True False False Orphanet:313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome True False False Orphanet:313850 Infantile cerebellar-retinal degeneration True False False @@ -9890,7 +10036,7 @@ Orphanet:314466 Atypical Meigs syndrome True False False Orphanet:314473 Ovarian fibroma True False False Orphanet:314478 Ovarian fibrothecoma True False False Orphanet:314485 Young adult-onset distal hereditary motor neuropathy True False False -Orphanet:3145 Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome True False False +Orphanet:3145 Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome True False False Orphanet:314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome True False False Orphanet:314566 Primary progressive apraxia of speech True False False Orphanet:314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome True False False @@ -9901,7 +10047,8 @@ Orphanet:314597 Chudley-McCullough syndrome True False False Orphanet:314603 Autosomal recessive spastic ataxia with leukoencephalopathy True False False Orphanet:314613 Growing teratoma syndrome True False False Orphanet:314621 Duplication of the pituitary gland True False False -Orphanet:314632 ATP13A2-related juvenile neuronal ceroid lipofuscinosis True False False +Orphanet:314629 CLN11 disease True False False +Orphanet:314632 CLN12 disease True False False Orphanet:314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency True False False Orphanet:314647 Non-progressive cerebellar ataxia with intellectual disability True False False Orphanet:314652 Variant ABeta2M amyloidosis True False False @@ -9966,7 +10113,7 @@ Orphanet:317425 Severe combined immunodeficiency due to DNA-PKcs deficiency True Orphanet:317428 Combined immunodeficiency due to ORAI1 deficiency True False False Orphanet:317430 Combined immunodeficiency due to STIM1 deficiency True False False Orphanet:317473 Pancytopenia due to IKZF1 mutations True False False -Orphanet:317476 X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia True False False +Orphanet:317476 XMEN True False False Orphanet:3175 X-linked spasticity-intellectual disability-epilepsy syndrome True False False Orphanet:3176 Spina bifida-hypospadias syndrome True False False Orphanet:3177 Spinocerebellar degeneration-corneal dystrophy syndrome True False False @@ -10086,7 +10233,6 @@ Orphanet:3206 Stüve-Wiedemann syndrome True False False Orphanet:3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome True False False Orphanet:3208 Isolated succinate-CoQ reductase deficiency True False False Orphanet:321 Multiple osteochondromas True False False -Orphanet:3210 Summitt syndrome True False False Orphanet:3214 Deaf blind hypopigmentation syndrome, Yemenite type True False False Orphanet:3216 Conductive deafness-malformed external ear syndrome True False False Orphanet:3217 Deafness-small bowel diverticulosis-neuropathy syndrome True False False @@ -10098,7 +10244,6 @@ Orphanet:322126 Genetic tumor of hematopoietic and lymphoid tissues True False F Orphanet:3222 Phosphoribosylpyrophosphate synthetase superactivity True False False Orphanet:3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome True False False Orphanet:3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome True False False -Orphanet:3226 Deafness-lymphedema-leukemia syndrome True False False Orphanet:3230 Deafness-oligodontia syndrome True False False Orphanet:3231 Deafness-onychodystrophy syndrome True False False Orphanet:3232 Deafness-ear malformation-facial palsy syndrome True False False @@ -10153,7 +10298,7 @@ Orphanet:324723 ABeta amyloidosis, Arctic type True False False Orphanet:324737 SRD5A3-CDG True False False Orphanet:324761 Microcephalic primordial dwarfism True False False Orphanet:324764 Trichorhinophalangeal syndrome True False False -Orphanet:3248 Distal symphalangism True False False +Orphanet:3248 Isolated distal symphalangism True False False Orphanet:324924 Hereditary periodic fever syndrome True False False Orphanet:324927 Pyogenic autoinflammatory syndrome True False False Orphanet:324930 Granulomatous autoinflammatory syndrome True False False @@ -10196,10 +10341,10 @@ Orphanet:3260 Idiopathic hypereosinophilic syndrome True False False Orphanet:3261 Autoimmune lymphoproliferative syndrome True False False Orphanet:3262 Dobrow syndrome True False False Orphanet:3263 Syngnathia-cleft palate syndrome True False False -Orphanet:3265 Humero-radial synostosis True False False -Orphanet:3266 Humero-radio-ulnar synostosis True False False +Orphanet:3265 Isolated humero-radial synostosis True False False +Orphanet:3266 Isolated humero-radio-ulnar synostosis True False False Orphanet:3268 Radioulnar synostosis-microcephaly-scoliosis syndrome True False False -Orphanet:3269 Congenital radioulnar synostosis True False False +Orphanet:3269 Isolated radio-ulnar synostosis True False False Orphanet:327 Congenital factor VII deficiency True False False Orphanet:3270 Radioulnar synostosis-developmental delay-hypotonia syndrome True False False Orphanet:3273 Synovial sarcoma True False False @@ -10220,7 +10365,7 @@ Orphanet:329195 Developmental delay with autism spectrum disorder and gait insta Orphanet:3292 Tel Hashomer camptodactyly syndrome True False False Orphanet:329211 Autosomal dominant neovascular inflammatory vitreoretinopathy True False False Orphanet:329217 Cerebral sinovenous thrombosis True False False -Orphanet:329224 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome True False False +Orphanet:329224 Schuurs-Hoeijmakers syndrome True False False Orphanet:329228 Microcephalic primordial dwarfism due to ZNF335 deficiency True False False Orphanet:329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement True False False Orphanet:329242 Congenital chronic diarrhea with protein-losing enteropathy True False False @@ -10239,7 +10384,7 @@ Orphanet:329336 Adult-onset chronic progressive external ophthalmoplegia with mi Orphanet:3294 Extensor tendons of finger anomalies True False False Orphanet:329457 Distal arthrogryposis type 5D True False False Orphanet:329466 Autosomal dominant focal dystonia, DYT25 type True False False -Orphanet:329469 Acute megakaryoblastic leukemia without Down syndrome True False False +Orphanet:329469 Acute megakaryoblastic leukemia in children without Down syndrome True False False Orphanet:329475 Spastic paraplegia-Paget disease of bone syndrome True False False Orphanet:329478 Adult-onset distal myopathy due to VCP mutation True False False Orphanet:329481 Lipoprotein glomerulopathy True False False @@ -10289,14 +10434,14 @@ Orphanet:3310 Tetrasomy 9p True False False Orphanet:33108 Lethal multiple pterygium syndrome True False False Orphanet:33110 Autosomal agammaglobulinemia True False False Orphanet:33111 Granulomatous slack skin True False False -Orphanet:331176 Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency True False False +Orphanet:331176 Severe congenital neutropenia due to G6PC3 deficiency True False False Orphanet:331187 Immunodeficiency due to MASP-2 deficiency True False False Orphanet:331190 Immunodeficiency due to ficolin3 deficiency True False False Orphanet:331193 Other immunodeficiency syndromes due to defects in innate immunity True False False Orphanet:3312 Thalidomide embryopathy True False False Orphanet:331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency True False False Orphanet:331217 Syndrome with combined immunodeficiency True False False -Orphanet:331220 Immunodeficiency due to absence of thymus True False False +Orphanet:331220 Syndome with combined immunodeficiency due to thymic defect True False False Orphanet:331223 Hyper-IgE syndrome True False False Orphanet:331226 Susceptibility to infection due to TYK2 deficiency True False False Orphanet:331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells True False False @@ -10325,7 +10470,7 @@ Orphanet:33355 Reticular dysgenesis True False False Orphanet:33364 Trichothiodystrophy True False False Orphanet:3337 Primary Fanconi renotubular syndrome True False False Orphanet:3338 Toriello-Carey syndrome True False False -Orphanet:3339 Toriello-Lacassie-Droste syndrome True False False +Orphanet:3339 Oculoectodermal syndrome True False False Orphanet:334 Familial atrial fibrillation True False False Orphanet:33402 Pediatric hepatocellular carcinoma True False False Orphanet:33408 Bullous lichen planus True False False @@ -10364,7 +10509,7 @@ Orphanet:3378 Trisomy 13 True False False Orphanet:3379 Distal duplication 17q True False False Orphanet:3380 Trisomy 18 True False False Orphanet:3383 Humerus trochlea aplasia True False False -Orphanet:3384 Truncus arteriosus True False False +Orphanet:3384 Common arterial trunk True False False Orphanet:3385 African trypanosomiasis True False False Orphanet:3386 American trypanosomiasis True False False Orphanet:3387 Isolated anterior cervical hypertrichosis True False False @@ -10400,7 +10545,6 @@ Orphanet:3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome True False Fals Orphanet:3434 MMEP syndrome True False False Orphanet:3437 Vogt-Koyanagi-Harada disease True False False Orphanet:3439 Von Voss-Cherstvoy syndrome True False False -Orphanet:344 Arbovirus fever True False False Orphanet:3440 Waardenburg syndrome True False False Orphanet:3447 Weaver syndrome True False False Orphanet:3448 Weaver-Williams syndrome True False False @@ -10418,7 +10562,7 @@ Orphanet:34533 Corneal dystrophy True False False Orphanet:3454 Intellectual disability-developmental delay-contractures syndrome True False False Orphanet:3455 Wiedemann-Rautenstrauch syndrome True False False Orphanet:3456 Wildervanck syndrome True False False -Orphanet:34587 Glycogen storage disease due to LAMP-2 deficiency True False False +Orphanet:34587 Danon disease True False False Orphanet:3459 Wilson-Turner syndrome True False False Orphanet:34592 Immunodeficiency by defective expression of MHC class I True False False Orphanet:346 Quinquaud folliculitis decalvans True False False @@ -10481,6 +10625,7 @@ Orphanet:352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type Orphanet:352675 X-linked Charcot-Marie-Tooth disease type 6 True False False Orphanet:352682 Cobblestone lissencephaly without muscular or ocular involvement True False False Orphanet:352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies True False False +Orphanet:352709 CLN13 disease True False False Orphanet:352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome True False False Orphanet:352718 Progressive retinal dystrophy due to retinol transport defect True False False Orphanet:352723 Attenuated Chédiak-Higashi syndrome True False False @@ -10618,7 +10763,7 @@ Orphanet:363727 X-linked dyserythropoietic anemia with abnormal platelets and ne Orphanet:363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome True False False Orphanet:363746 Balint syndrome True False False Orphanet:36382 Familial cervical artery dissection True False False -Orphanet:36383 COL4A1-related familial vascular leukoencephalopathy True False False +Orphanet:36383 COL4A1/2-related familial vascular leukoencephalopathy True False False Orphanet:36386 Hereditary sensory and autonomic neuropathy type 1 True False False Orphanet:36387 Generalized epilepsy with febrile seizures-plus True False False Orphanet:36388 Paraneoplastic neurologic syndrome True False False @@ -10653,7 +10798,6 @@ Orphanet:364571 Dysostosis with limb and face anomalies as a major feature True Orphanet:364574 Acrofacial dysostosis True False False Orphanet:364577 Intellectual disability-brachydactyly-Pierre Robin syndrome True False False Orphanet:364803 Rare bone disease related to a common gene or pathway defect True False False -Orphanet:364817 Aggrecan-related bone disorder True False False Orphanet:364820 TRPV4-related bone disorder True False False Orphanet:365 Glycogen storage disease due to acid maltase deficiency True False False Orphanet:366 Glycogen storage disease due to glycogen debranching enzyme deficiency True False False @@ -10799,7 +10943,7 @@ Orphanet:391417 HSD10 disease True False False Orphanet:391428 HSD10 disease, infantile type True False False Orphanet:391457 HSD10 disease, neonatal type True False False Orphanet:391474 Frontorhiny True False False -Orphanet:391487 Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome True False False +Orphanet:391487 STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome True False False Orphanet:391490 Adult-onset myasthenia gravis True False False Orphanet:391497 Juvenile myasthenia gravis True False False Orphanet:391504 Transient neonatal myasthenia gravis True False False @@ -11002,7 +11146,7 @@ Orphanet:404514 Acquired cystic disease-associated renal cell carcinoma True Fal Orphanet:404521 Spinal muscular atrophy with respiratory distress type 2 True False False Orphanet:404538 X-linked distal hereditary motor neuropathy True False False Orphanet:404546 DITRA True False False -Orphanet:404553 Vasculitis due to ADA2 deficiency True False False +Orphanet:404553 Adenosine deaminase 2 deficiency True False False Orphanet:404560 Familial atypical multiple mole melanoma syndrome True False False Orphanet:404568 Dysostosis of genetic origin True False False Orphanet:404571 Dysostosis of genetic origin with limb anomaly as a major feature True False False @@ -11085,11 +11229,11 @@ Orphanet:423 Malignant hyperthermia of anesthesia True False False Orphanet:423275 Spinocerebellar ataxia type 40 True False False Orphanet:423296 Spinocerebellar ataxia type 38 True False False Orphanet:423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome True False False -Orphanet:423384 Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency True False False +Orphanet:423384 Severe congenital neutropenia due to JAGN1 deficiency True False False Orphanet:423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome True False False Orphanet:423461 Mucolipidosis type III alpha/beta True False False Orphanet:423470 Mucolipidosis type III gamma True False False -Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome True False False +Orphanet:423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency True False False Orphanet:423655 ARX-related encephalopathy-brain malformation spectrum True False False Orphanet:423662 Rare autonomic nervous system disorder True False False Orphanet:423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect True False False @@ -11183,7 +11327,7 @@ Orphanet:435988 Chronic atrial and intestinal dysrhythmia syndrome True False Fa Orphanet:435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D True False False Orphanet:436 Hypophosphatasia True False False Orphanet:436003 Contractures-developmental delay-Pierre Robin syndrome True False False -Orphanet:436141 Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome True False False +Orphanet:436141 HIDEA syndrome True False False Orphanet:436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome True False False Orphanet:436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome True False False Orphanet:436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency True False False @@ -11220,6 +11364,7 @@ Orphanet:439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia sy Orphanet:439218 KCNQ2-related epileptic encephalopathy True False False Orphanet:439224 ALECT2 amyloidosis True False False Orphanet:439232 AApoAIV amyloidosis True False False +Orphanet:439246 ABeta2M amyloidosis True False False Orphanet:439254 ITM2B amyloidosis True False False Orphanet:439729 Cutaneous polyarteritis nodosa True False False Orphanet:439737 Primary polyarteritis nodosa True False False @@ -11293,11 +11438,11 @@ Orphanet:444116 Hereditary amyloidosis True False False Orphanet:444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome True False False Orphanet:444316 Idiopathic phalangeal acro-osteolysis True False False Orphanet:444458 Combined oxidative phosphorylation defect type 24 True False False -Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome True False False +Orphanet:444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency True False False Orphanet:444490 Familial chylomicronemia syndrome True False False Orphanet:444916 Pseudohypoaldosteronism True False False Orphanet:445018 Combined immunodeficiency due to LRBA deficiency True False False -Orphanet:445038 3-methylglutaconic aciduria type 7 True False False +Orphanet:445038 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome True False False Orphanet:445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome True False False Orphanet:445110 Limb-girdle muscular dystrophy due to POMK deficiency True False False Orphanet:445197 Secondary vasculitis True False False @@ -11418,13 +11563,12 @@ Orphanet:457485 Macrocephaly-intellectual disability-neurodevelopmental disorder Orphanet:458718 Idiopathic spontaneous coronary artery dissection True False False Orphanet:458758 Composite hemangioendothelioma True False False Orphanet:458763 Retiform hemangioendothelioma True False False -Orphanet:458768 Primary intralymphatic angioendothelioma True False False +Orphanet:458768 Papillary intralymphatic angioendothelioma True False False Orphanet:458775 Congenital hemangioma True False False Orphanet:458785 Partially involuting congenital hemangioma True False False Orphanet:458792 Mixed cystic lymphatic malformation True False False Orphanet:458798 Spinocerebellar ataxia type 41 True False False Orphanet:458803 Spinocerebellar ataxia type 42 True False False -Orphanet:458827 Vascular tumor with associated anomalies True False False Orphanet:458830 Rare capillary malformation with associated anomalies True False False Orphanet:458833 Common cystic lymphatic malformation True False False Orphanet:458837 Rare combined vascular malformation True False False @@ -11536,7 +11680,6 @@ Orphanet:475 Joubert syndrome True False False Orphanet:476084 BVES-related limb-girdle muscular dystrophy True False False Orphanet:476093 Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome True False False Orphanet:476096 Erythrokeratodermia-cardiomyopathy syndrome True False False -Orphanet:476102 Hereditary pediatric Behçet-like disease True False False Orphanet:476109 Axonal hereditary motor and sensory neuropathy True False False Orphanet:476113 Combined immunodeficiency due to TFRC deficiency True False False Orphanet:476116 Demyelinating hereditary motor and sensory neuropathy True False False @@ -11558,8 +11701,8 @@ Orphanet:477742 Nodular fasciitis True False False Orphanet:477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy True False False Orphanet:477754 Genetic cerebral small vessel disease True False False Orphanet:477759 COL4A1 or COL4A2-related cerebral small vessel disease True False False -Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy True False False -Orphanet:477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy True False False +Orphanet:477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency True False False +Orphanet:477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency True False False Orphanet:477768 Moyamoya angiopathy True False False Orphanet:477771 Rare disorder with a moyamoya angiopathy True False False Orphanet:477774 Combined oxidative phosphorylation defect type 27 True False False @@ -11629,19 +11772,19 @@ Orphanet:485 Kniest dysplasia True False False Orphanet:485275 Acquired schizencephaly True False False Orphanet:485350 CLCN4-related X-linked intellectual disability syndrome True False False Orphanet:485358 Propylthiouracil embryofetopathy True False False -Orphanet:485382 Genetic premature ovarian failure True False False +Orphanet:485382 Rare genetic premature ovarian failure True False False Orphanet:485405 16p12.1p12.3 triplication syndrome True False False Orphanet:485418 EMILIN-1-related connective tissue disease True False False Orphanet:485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect True False False Orphanet:485426 Isolated congenital hepatic fibrosis True False False Orphanet:486 Autosomal dominant severe congenital neutropenia True False False -Orphanet:48652 Monosomy 22q13.3 True False False +Orphanet:48652 Phelan-McDermid syndrome True False False Orphanet:486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures True False False Orphanet:486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome True False False Orphanet:48686 Primary effusion lymphoma True False False Orphanet:487 Krabbe disease True False False Orphanet:48736 Embryonal carcinoma of the central nervous system True False False -Orphanet:487796 Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome True False False +Orphanet:487796 Takenouchi-Kosaki syndrome True False False Orphanet:487809 Pediatric collagenous gastritis True False False Orphanet:487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation True False False Orphanet:487825 Pierpont syndrome True False False @@ -11728,8 +11871,8 @@ Orphanet:498445 Genetic inflammatory or rheumatoid-like osteoarthropathy True Fa Orphanet:498448 Overgrowth or tall stature syndrome with skeletal involvement True False False Orphanet:498451 Dysostosis with brachydactyly without extraskeletal manifestations True False False Orphanet:498454 Dysostosis with brachydactyly with extraskeletal manifestations True False False -Orphanet:498457 Longitudinal limb defect True False False -Orphanet:498461 Terminal transverse limb defect True False False +Orphanet:498457 Non-syndromic longitudinal limb defect True False False +Orphanet:498461 Non-syndromic terminal transverse limb defect True False False Orphanet:498464 Non-syndromic preaxial polydactyly True False False Orphanet:498467 Non-syndromic postaxial polydactyly True False False Orphanet:498470 Non-syndromic complex polydactyly True False False @@ -11738,7 +11881,7 @@ Orphanet:498477 Ectrodactyly with and without other manifestations True False Fa Orphanet:498481 LRP5-related primary osteoporosis True False False Orphanet:498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome True False False Orphanet:498488 Overgrowth syndrome with 2q37 translocation True False False -Orphanet:498491 Complete hemimelia True False False +Orphanet:498491 Non-syndromic complete hemimelia True False False Orphanet:498494 Mirror-image polydactyly True False False Orphanet:498497 Short rib-polydactyly syndrome type 5 True False False Orphanet:498602 Sugarman brachydactyly True False False @@ -11746,7 +11889,7 @@ Orphanet:498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis mul Orphanet:499 Kerion celsi True False False Orphanet:499009 Congenital syphilis True False False Orphanet:499047 Autoimmune/inflammatory optic neuropathy True False False -Orphanet:499085 Chronic relapsing inflammatory optic neuropathy True False False +Orphanet:499085 Chronic relapsing inflammatory optic neuritis True False False Orphanet:499096 Isolated optic neuritis True False False Orphanet:499103 Recurrent idiopathic neuroretinitis True False False Orphanet:499107 Idiopathic optic perineuritis True False False @@ -11762,7 +11905,7 @@ Orphanet:500144 Early-onset progressive encephalopathy-hearing loss-pons hypopla Orphanet:500150 Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome True False False Orphanet:500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom True False False Orphanet:500163 Witteveen-Kolk syndrome True False False -Orphanet:500166 SIN3A-related intellectual disability syndrome due to a point mutation True False False +Orphanet:500166 SIN3-related intellectual disability syndrome due to a point mutation True False False Orphanet:500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder True False False Orphanet:500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome True False False Orphanet:500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses True False False @@ -12025,7 +12168,7 @@ Orphanet:538863 Classic pyoderma gangrenosum True False False Orphanet:538866 Pustular pyoderma gangrenosum True False False Orphanet:538869 Bullous pyoderma gangrenosum True False False Orphanet:538872 Vegetative pyoderma gangrenosum True False False -Orphanet:538931 X-linked lymphoproliferative disease due to SH2D1A deficiency True False False +Orphanet:538931 X-linked lymphoproliferative disease due to SAP deficiency True False False Orphanet:538934 X-linked lymphoproliferative disease due to XIAP deficiency True False False Orphanet:538958 Combined immunodeficiency due to CD70 deficiency True False False Orphanet:538963 Combined immunodeficiency due to ITK deficiency True False False @@ -12042,7 +12185,7 @@ Orphanet:542301 Combined immunodeficiency due to CARMIL2 deficiency True False F Orphanet:542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome True False False Orphanet:542310 Leukoencephalopathy with calcifications and cysts True False False Orphanet:54247 Posterior cortical atrophy True False False -Orphanet:54251 Corticosteroid-sensitive aseptic abscess syndrome True False False +Orphanet:54251 Aseptic abscess syndrome True False False Orphanet:542568 Quadricuspid aortic valve True False False Orphanet:542585 Auditory neuropathy-optic atrophy syndrome True False False Orphanet:542592 Necrobiosis lipoidica True False False @@ -12302,8 +12445,6 @@ Orphanet:592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies Orphanet:592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies True False False Orphanet:592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies True False False Orphanet:592873 Acute transverse myelitis with anti-MOG antibodies True False False -Orphanet:592885 Isolated optic neuritis without anti-MOG antibodies True False False -Orphanet:592888 Isolated optic neuritis with anti-MOG antibodies True False False Orphanet:592894 Acute disseminated encephalomyelitis with anti-MOG antibodies True False False Orphanet:592900 Acute disseminated encephalomyelitis without anti-MOG antibodies True False False Orphanet:59298 Schilder disease True False False @@ -12371,7 +12512,7 @@ Orphanet:60026 Pulmonary nodular lymphoid hyperplasia True False False Orphanet:60030 Loeys-Dietz syndrome True False False Orphanet:60032 Recurrent respiratory papillomatosis True False False Orphanet:60033 Idiopathic bronchiectasis True False False -Orphanet:60039 Pudendal neuralgia True False False +Orphanet:60039 Pudendal nerve entrapment syndrome True False False Orphanet:60040 Megalencephaly-capillary malformation-polymicrogyria syndrome True False False Orphanet:60041 Congenital heart block True False False Orphanet:600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance True False False @@ -12449,10 +12590,10 @@ Orphanet:618891 Chronic neurovisceral acid sphingomyelinase deficiency True Fals Orphanet:619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome True False False Orphanet:619284 Narcolepsy True False False Orphanet:619340 Inherited hematologic cancer-predisposing syndrome True False False -Orphanet:619363 Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 True False False +Orphanet:619363 NOCARH syndrome True False False Orphanet:619367 SAMD9L-associated autoinflammatory syndrome True False False -Orphanet:619941 Immune deficiency due to impaired neutrophil phagocytosis and migration True False False -Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome True False False +Orphanet:619941 Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency True False False +Orphanet:619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency True False False Orphanet:619953 Familial hyperinflammatory lymphoproliferative immunodeficiency True False False Orphanet:619972 CADINS disease True False False Orphanet:619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome True False False @@ -12532,7 +12673,7 @@ Orphanet:633035 Intellectual disability-early-onset cataract-microcephaly syndro Orphanet:633099 PAICS deficiency True False False Orphanet:633124 Invasive scopulariopsis infection True False False Orphanet:633211 Preaxial digit brachydactyly-webbed fingers True False False -Orphanet:633228 Proximal femoral focal deficiency True False False +Orphanet:633228 Isolated proximal femoral focal deficiency True False False Orphanet:634 Netherton syndrome True False False Orphanet:63442 Angel-shaped phalango-epiphyseal dysplasia True False False Orphanet:63443 Rare epithelial tumor of stomach True False False @@ -12547,7 +12688,7 @@ Orphanet:63455 Paraneoplastic pemphigus True False False Orphanet:635 Neuroblastoma True False False Orphanet:636 Neurofibromatosis type 1 True False False Orphanet:636941 Vascular Ehlers-Danlos-polymicrogyria syndrome True False False -Orphanet:636945 Invasive Candidiasis True False False +Orphanet:636945 Invasive candidiasis True False False Orphanet:636950 Glaucomatocyclitic crisis disease True False False Orphanet:636955 Endemic pemphigus foliaceus True False False Orphanet:636965 Autosomal dominant myosin storage myopathy True False False @@ -12579,7 +12720,7 @@ Orphanet:641613 Endogenous Cushing syndrome True False False Orphanet:641829 Neonatal compartment syndrome True False False Orphanet:642 Hereditary sensory and autonomic neuropathy type 4 True False False Orphanet:642071 Primary pulmonary vein stenosis True False False -Orphanet:642085 Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type True False False +Orphanet:642085 EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity True False False Orphanet:642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type True False False Orphanet:642671 Familial hyperaldosteronism type IV True False False Orphanet:642675 CHD8 overgrowth syndrome True False False @@ -12647,9 +12788,9 @@ Orphanet:646098 Collagen VI-related congenital muscular dystrophy True False Fal Orphanet:646113 Intermediate collagen VI-related muscular dystrophy True False False Orphanet:646136 Dysplastic cortical hyperostosis, Al-Gazali type True False False Orphanet:646139 Dysplastic cortical hyperostosis True False False -Orphanet:646278 CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome True False False +Orphanet:646278 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome True False False Orphanet:64686 Tolosa-Hunt syndrome True False False -Orphanet:64692 Oroya fever True False False +Orphanet:64692 Bartonella bacilliformis infection True False False Orphanet:64694 Trench fever True False False Orphanet:647 Nijmegen breakage syndrome True False False Orphanet:64720 Leiomyosarcoma True False False @@ -12681,7 +12822,7 @@ Orphanet:647794 Isolated persistent urogenital sinus True False False Orphanet:647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome True False False Orphanet:647804 Combined immunodeficiency due to FCHO1 deficiency True False False Orphanet:647811 Cardiac-urogenital syndrome True False False -Orphanet:647815 Keratoendotheliitis fugax hereditaria True False False +Orphanet:647815 Keratitis fugax hereditaria True False False Orphanet:647823 Idiopathic pregnancy-associated osteoporosis True False False Orphanet:647834 SLC40A1-related hemochromatosis True False False Orphanet:647916 Conjoined twins True False False @@ -12709,7 +12850,6 @@ Orphanet:650097 Genetic central precocious puberty in male True False False Orphanet:650102 Non-genetic central precocious puberty in male True False False Orphanet:652 Multiple endocrine neoplasia type 1 True False False Orphanet:652487 Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome True False False -Orphanet:65250 Perineural cyst True False False Orphanet:652514 Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation True False False Orphanet:652519 Cleft palate-congenital heart defect-intellectual disability syndrome True False False Orphanet:652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome True False False @@ -12745,7 +12885,6 @@ Orphanet:656085 Benign atrophic papulosis True False False Orphanet:656126 Segmental spinal dysgenesis True False False Orphanet:656130 PBX1-related congenital anomalies of kidney and urinary tract syndrome True False False Orphanet:656135 Intellectual disability-cupped ears syndrome True False False -Orphanet:656273 Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome True False False Orphanet:656279 1p36.33 duplication syndrome True False False Orphanet:656283 Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency True False False Orphanet:656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency True False False @@ -12763,7 +12902,6 @@ Orphanet:65743 Autosomal dominant multiple pterygium syndrome True False False Orphanet:65748 Multiple self-healing squamous epithelioma True False False Orphanet:65753 Charcot-Marie-Tooth disease type 1 True False False Orphanet:65759 Carpenter syndrome True False False -Orphanet:65798 Goodman syndrome True False False Orphanet:658 Non-histaminic angioedema True False False Orphanet:658540 16q22 deletion syndrome True False False Orphanet:658549 Idiopathic small fibers neuropathy True False False @@ -12776,12 +12914,12 @@ Orphanet:658612 Non-transplant-related bronchiolitis obliterans True False False Orphanet:658778 COQ7-related distal hereditary motor neuropathy True False False Orphanet:658805 Greig cephalopolysyndactyly-contiguous gene syndrome True False False Orphanet:658810 Atrophoderma of Pasini and Pierini True False False -Orphanet:658813 Methylenetetrahydrofolate dehydrogenase 1 deficiency True False False +Orphanet:658813 Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency True False False Orphanet:658843 Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome True False False Orphanet:658909 Fasciolopsiasis True False False Orphanet:658913 Paragonimiasis True False False Orphanet:658917 Clonorchiasis True False False -Orphanet:658946 Early-onset autoimmune disorder due to DOCK11 partial deficiency True False False +Orphanet:658946 Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency True False False Orphanet:658951 Early-onset immune dysregulation due to DOCK11 complete deficiency True False False Orphanet:659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques True False False Orphanet:660 Omphalocele True False False @@ -12856,8 +12994,9 @@ Orphanet:68402 Rare parkinsonian disorder True False False Orphanet:68411 Rare bone tumor True False False Orphanet:68415 Rare parathyroid disease and phosphocalcic metabolism anomaly True False False Orphanet:68416 Rare infectious disease True False False -Orphanet:68419 Vascular anomaly or angioma True False False +Orphanet:68419 Rare vascular anomaly True False False Orphanet:685 Hereditary spastic paraplegia True False False +Orphanet:69 Amyloidosis True False False Orphanet:69028 Dysostosis with brachydactyly True False False Orphanet:69061 Idiopathic steroid-sensitive nephrotic syndrome True False False Orphanet:69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization True False False @@ -13004,7 +13143,7 @@ Orphanet:75234 Cholesteryl ester storage disease True False False Orphanet:75249 Familial isolated restrictive cardiomyopathy True False False Orphanet:753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency True False False Orphanet:75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome True False False -Orphanet:75326 Retinal arterial tortuosity True False False +Orphanet:75326 Familial isolated retinal arteriolar tortuosity True False False Orphanet:75327 North Carolina macular dystrophy True False False Orphanet:75373 Progressive bifocal chorioretinal atrophy True False False Orphanet:75374 Bradyopsia True False False @@ -13191,9 +13330,6 @@ Orphanet:79256 GM1 gangliosidosis type 2 True False False Orphanet:79257 GM1 gangliosidosis type 3 True False False Orphanet:79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia True False False Orphanet:79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib True False False -Orphanet:79262 Adult neuronal ceroid lipofuscinosis True False False -Orphanet:79263 Infantile neuronal ceroid lipofuscinosis True False False -Orphanet:79264 Juvenile neuronal ceroid lipofuscinosis True False False Orphanet:79269 Sanfilippo syndrome type A True False False Orphanet:79270 Sanfilippo syndrome type B True False False Orphanet:79271 Sanfilippo syndrome type C True False False @@ -13316,7 +13452,7 @@ Orphanet:79457 Maculopapular cutaneous mastocytosis True False False Orphanet:79466 Inflammatory linear verrucous epidermal nevus True False False Orphanet:79467 Verrucous nevus True False False Orphanet:79468 Acanthokeratolytic verrucous nevus True False False -Orphanet:79473 Porphyria variegata True False False +Orphanet:79473 Variegate porphyria True False False Orphanet:79474 Atypical Werner syndrome True False False Orphanet:79476 Griscelli syndrome type 1 True False False Orphanet:79477 Griscelli syndrome type 2 True False False @@ -13444,7 +13580,7 @@ Orphanet:842 Testicular seminomatous germ cell tumor True False False Orphanet:844 Lown-Ganong-Levine syndrome True False False Orphanet:845 Tay-Sachs disease True False False Orphanet:846 Alpha-thalassemia True False False -Orphanet:847 Alpha-thalassemia-X-linked intellectual disability syndrome True False False +Orphanet:847 X-linked alpha-thalassemia-intellectual disability syndrome True False False Orphanet:848 Beta-thalassemia True False False Orphanet:849 Glanzmann thrombasthenia True False False Orphanet:85 Congenital dyserythropoietic anemia True False False @@ -13483,7 +13619,6 @@ Orphanet:85197 Genochondromatosis type 1 True False False Orphanet:85198 Dysspondyloenchondromatosis True False False Orphanet:85199 Craniosynostosis-anal anomalies-porokeratosis syndrome True False False Orphanet:852 X-linked thrombocytopenia with normal platelets True False False -Orphanet:85200 Ischiovertebral syndrome True False False Orphanet:85201 Genitopatellar syndrome True False False Orphanet:85202 Keutel syndrome True False False Orphanet:85203 Acropectoral syndrome True False False @@ -13542,7 +13677,7 @@ Orphanet:85448 AGel amyloidosis True False False Orphanet:85450 Hereditary amyloidosis with primary renal involvement True False False Orphanet:85451 ATTRV122I amyloidosis True False False Orphanet:85453 X-linked reticulate pigmentary disorder True False False -Orphanet:85458 Hereditary cerebral hemorrhage with amyloidosis True False False +Orphanet:85458 Cerebral Amyloid Angiopathy True False False Orphanet:857 Townes-Brocks syndrome True False False Orphanet:858 Congenital toxoplasmosis True False False Orphanet:859 Transcobalamin deficiency True False False @@ -13554,7 +13689,7 @@ Orphanet:86309 DPAGT1-CDG True False False Orphanet:864 Trichofolliculoma True False False Orphanet:867 Familial multiple trichoepithelioma True False False Orphanet:86788 X-linked severe congenital neutropenia True False False -Orphanet:86789 Patella aplasia/hypoplasia True False False +Orphanet:86789 Isolated patella aplasia/hypoplasia True False False Orphanet:86795 Localized lichen myxedematosus True False False Orphanet:86797 Atypical lichen myxedematosus True False False Orphanet:868 Triose phosphate-isomerase deficiency True False False @@ -13573,7 +13708,7 @@ Orphanet:86823 Lissencephaly with cerebellar hypoplasia True False False Orphanet:86829 Chronic neutrophilic leukemia True False False Orphanet:86830 Chronic myeloproliferative disease, unclassifiable True False False Orphanet:86834 Juvenile myelomonocytic leukemia True False False -Orphanet:86839 Refractory anemia with excess blasts True False False +Orphanet:86839 Myelodysplastic neoplasm with increased blasts True False False Orphanet:86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality True False False Orphanet:86843 Acute panmyelosis with myelofibrosis True False False Orphanet:86845 Acute myeloid leukaemia with myelodysplasia-related features True False False @@ -13696,7 +13831,7 @@ Orphanet:90002 Undifferentiated connective tissue syndrome True False False Orphanet:90003 Inflammatory pseudotumor of the liver True False False Orphanet:90020 Parkinson-dementia complex of Guam True False False Orphanet:90021 Radiation myelitis True False False -Orphanet:90023 Primary immunodeficiency syndrome due to LAMTOR2 deficiency True False False +Orphanet:90023 Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency True False False Orphanet:90024 Deafness with labyrinthine aplasia, microtia, and microdontia True False False Orphanet:90025 Non-syndromic syndactyly True False False Orphanet:90026 Primary erythromelalgia True False False @@ -13847,7 +13982,7 @@ Orphanet:91483 Rieger anomaly True False False Orphanet:91489 Isolated congenital megalocornea True False False Orphanet:91490 Isolated congenital sclerocornea True False False Orphanet:91491 Congenital ectropion uveae True False False -Orphanet:91492 Early-onset non-syndromic cataract True False False +Orphanet:91492 Early onset non-syndromic cataract True False False Orphanet:91494 Macular coloboma-cleft palate-hallux valgus syndrome True False False Orphanet:91495 Persistent hyperplastic primary vitreous True False False Orphanet:91496 Snowflake vitreoretinal degeneration True False False @@ -13866,7 +14001,7 @@ Orphanet:927 Hyperammonemia due to N-acetylglutamate synthase deficiency True Fa Orphanet:929 Achalasia-microcephaly syndrome True False False Orphanet:93 Aspartylglucosaminuria True False False Orphanet:930 Idiopathic achalasia True False False -Orphanet:931 Acheiropodia True False False +Orphanet:931 Isolated acheiropodia True False False Orphanet:93100 Renal agenesis, unilateral True False False Orphanet:93101 Renal hypoplasia True False False Orphanet:93108 Renal dysplasia True False False @@ -13914,10 +14049,10 @@ Orphanet:93314 Spondylometaphyseal dysplasia, Kozlowski type True False False Orphanet:93315 Spondylometaphyseal dysplasia, 'corner fracture' type True False False Orphanet:93316 Spondylometaphyseal dysplasia, Schmidt type True False False Orphanet:93317 Spondylometaphyseal dysplasia, Sedaghatian type True False False -Orphanet:93320 Ulnar hemimelia True False False -Orphanet:93321 Radial hemimelia True False False -Orphanet:93322 Tibial hemimelia True False False -Orphanet:93323 Fibular hemimelia True False False +Orphanet:93320 Isolated ulnar hemimelia True False False +Orphanet:93321 Isolated radial hemimelia True False False +Orphanet:93322 Isolated tibial hemimelia True False False +Orphanet:93323 Isolated fibular hemimelia True False False Orphanet:93324 Autosomal recessive Kenny-Caffey syndrome True False False Orphanet:93325 Autosomal dominant Kenny-Caffey syndrome True False False Orphanet:93328 Autosomal dominant omodysplasia True False False @@ -13961,7 +14096,6 @@ Orphanet:93420 FGFR3-related chondrodysplasia True False False Orphanet:93421 Type 2 collagen-related bone disorder True False False Orphanet:93422 Type 11 collagen-related bone disorder True False False Orphanet:93423 Sulfation-related bone disorder True False False -Orphanet:93424 Perlecan-related bone disorder True False False Orphanet:93425 Filamin-related bone disorder True False False Orphanet:93426 Ciliopathies with major skeletal involvement True False False Orphanet:93429 Multiple epiphyseal dysplasia and pseudoachondroplasia True False False @@ -14006,7 +14140,6 @@ Orphanet:93560 AApoAI amyloidosis True False False Orphanet:93561 ALys amyloidosis True False False Orphanet:93562 AFib amyloidosis True False False Orphanet:93568 Juvenile polymyositis True False False -Orphanet:93569 Polymyalgia rheumatica True False False Orphanet:93571 Dense deposit disease True False False Orphanet:93573 Thrombotic microangiopathy True False False Orphanet:93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies True False False @@ -14065,7 +14198,7 @@ Orphanet:93964 Blepharospasm-oromandibular dystonia syndrome True False False Orphanet:93969 Open spinal dysraphism with a myelomeningocele True False False Orphanet:93976 Anotia True False False Orphanet:94 Astrocytoma True False False -Orphanet:94056 Humero-ulnar synostosis True False False +Orphanet:94056 Isolated humero-ulnar synostosis True False False Orphanet:94058 Neovascular glaucoma True False False Orphanet:94063 12q14 microdeletion syndrome True False False Orphanet:94064 Deafness-infertility syndrome True False False @@ -14096,9 +14229,7 @@ Orphanet:945 Acalvaria True False False Orphanet:949 Acrocraniofacial dysostosis True False False Orphanet:95 Friedreich ataxia True False False Orphanet:950 Acrodysostosis True False False -Orphanet:95157 Acute hepatic porphyria True False False Orphanet:95159 Hepatoerythropoietic porphyria True False False -Orphanet:95161 Chronic hepatic porphyria True False False Orphanet:952 Acrofacial dysostosis, Weyers type True False False Orphanet:95232 Lissencephaly due to LIS1 mutation True False False Orphanet:95409 Acute adrenal insufficiency True False False @@ -14146,7 +14277,7 @@ Orphanet:95613 Pituitary apoplexy True False False Orphanet:95617 Pituitary hormone deficiency secondary to a granulomatous disease True False False Orphanet:95618 Pituitary hormone deficiency secondary to storage disease True False False Orphanet:95619 Post-traumatic pituitary deficiency True False False -Orphanet:95626 Acquired central diabetes insipidus True False False +Orphanet:95626 Acquired arginine vasopressin deficiency True False False Orphanet:95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency True False False Orphanet:957 Acropectorovertebral dysplasia True False False Orphanet:95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone True False False @@ -14154,8 +14285,8 @@ Orphanet:95702 X-linked adrenal hypoplasia congenita True False False Orphanet:95706 Non-syndromic posterior hypospadias True False False Orphanet:95707 Idiopathic isolated micropenis True False False Orphanet:95708 Rare precocious puberty True False False -Orphanet:95709 Acquired premature ovarian failure True False False -Orphanet:95710 Non-acquired premature ovarian failure True False False +Orphanet:95709 Rare acquired premature ovarian failure True False False +Orphanet:95710 Rare non-acquired premature ovarian failure True False False Orphanet:95711 Congenital hypothyroidism due to developmental anomaly True False False Orphanet:95712 Thyroid ectopia True False False Orphanet:95713 Athyreosis True False False @@ -14286,7 +14417,7 @@ Orphanet:97289 Thymic neuroendocrine tumor True False False Orphanet:97290 Familial papillary thyroid carcinoma with renal papillary neoplasia True False False Orphanet:97293 Rare benign ovarian tumor True False False Orphanet:97297 Bohring-Opitz syndrome True False False -Orphanet:973 Congenital absence/hypoplasia of fingers excluding thumb, unilateral True False False +Orphanet:973 Isolated absence/hypoplasia of fingers excluding thumb, unilateral True False False Orphanet:97330 Thoracic outlet syndrome True False False Orphanet:97332 Kienbock disease True False False Orphanet:97335 Osgood-Schlatter disease True False False @@ -14591,7 +14722,7 @@ Orphanet:98820 Familial focal epilepsy with variable foci True False False Orphanet:98823 Chronic myelomonocytic leukemia True False False Orphanet:98824 Atypical chronic myeloid leukemia True False False Orphanet:98825 Unclassified myelodysplastic/myeloproliferative disease True False False -Orphanet:98826 Refractory anemia True False False +Orphanet:98826 Myelodysplastic neoplasm with low blasts True False False Orphanet:98827 Unclassified myelodysplastic syndrome True False False Orphanet:98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) True False False Orphanet:98831 Acute myeloid leukemia with 11q23 abnormalities True False False @@ -14641,7 +14772,7 @@ Orphanet:98902 Amish nemaline myopathy True False False Orphanet:98904 Congenital myopathy with excess of thin filaments True False False Orphanet:98905 Congenital multicore myopathy with external ophthalmoplegia True False False Orphanet:98907 Neutral lipid storage disease with ichthyosis True False False -Orphanet:98908 Neutral lipid storage myopathy True False False +Orphanet:98908 Neutral lipid storage disease with myopathy True False False Orphanet:98909 Desminopathy True False False Orphanet:98910 Alpha-crystallinopathy True False False Orphanet:98911 Distal myotilinopathy True False False @@ -14686,7 +14817,6 @@ Orphanet:98971 Posterior amorphous corneal dystrophy True False False Orphanet:98972 Central cloudy dystrophy of François True False False Orphanet:98973 Posterior polymorphous corneal dystrophy True False False Orphanet:98974 Fuchs endothelial corneal dystrophy True False False -Orphanet:98975 Congenital hereditary endothelial dystrophy type I True False False Orphanet:98976 Congenital glaucoma True False False Orphanet:98977 Juvenile glaucoma True False False Orphanet:98978 Axenfeld anomaly True False False @@ -14809,7 +14939,6 @@ Orphanet:99413 Turner syndrome due to structural X chromosome anomalies True Fal Orphanet:99429 Complete androgen insensitivity syndrome True False False Orphanet:99642 Spondyloepimetaphyseal dysplasia, Handigodu type True False False Orphanet:99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria True False False -Orphanet:99647 Cheirospondyloenchondromatosis True False False Orphanet:99657 Primary dystonia, DYT2 type True False False Orphanet:99672 Fried's tooth and nail syndrome True False False Orphanet:99688 Dermotrichic syndrome True False False @@ -14879,7 +15008,7 @@ Orphanet:99879 Familial isolated hyperparathyroidism True False False Orphanet:99880 Hyperparathyroidism-jaw tumor syndrome True False False Orphanet:99885 Isolated permanent neonatal diabetes mellitus True False False Orphanet:99886 Transient neonatal diabetes mellitus True False False -Orphanet:99887 Acute megakaryoblastic leukemia in Down syndrome True False False +Orphanet:99887 Acute megakaryoblastic leukemia in children with Down syndrome True False False Orphanet:99889 Cushing syndrome due to ectopic ACTH secretion True False False Orphanet:99892 ACTH-dependent Cushing syndrome True False False Orphanet:99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency True False False @@ -14952,7 +15081,7 @@ Orphanet:99995 Complex regional pain syndrome type 1 True False False Orphanet:100049 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies True True False Orphanet:100076 Duodenal neuroendocrine tumor True True False Orphanet:100077 Jejunal neuroendocrine tumor True True False -Orphanet:101987 Constitutional neutropenia True True False +Orphanet:101987 Congenital neutropenia True True False Orphanet:104003 Congenital intestinal transport defect True True False Orphanet:104007 Congenital enteropathy involving intestinal mucosa development True True False Orphanet:104008 Short bowel syndrome True True False @@ -15023,9 +15152,7 @@ Orphanet:231230 Beta-thalassemia associated with another hemoglobin anomaly True Orphanet:231386 Beta-thalassemia with other manifestations True True False Orphanet:232288 Syndrome with alpha-thalassemia as a major feature True True False Orphanet:235936 Familial hyperaldosteronism True True False -Orphanet:238510 Lymphoproliferative syndrome True True False Orphanet:238517 Hypotonia-cystinuria type 1 syndrome True True False -Orphanet:2442 X-linked lymphoproliferative disease True True False Orphanet:247 Inherited arrhythmogenic cardiomyopathy True True False Orphanet:251355 Sickle cell disease associated with another hemoglobin anomaly True True False Orphanet:251995 Primary germ cell tumor of central nervous system True True False @@ -15053,7 +15180,6 @@ Orphanet:264949 Secondary interstitial lung disease in childhood and adulthood a Orphanet:264968 Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease True True False Orphanet:264973 Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis True True False Orphanet:264984 Exposure-related interstitial lung disease True True False -Orphanet:271861 Hereditary ATTR amyloidosis True True False Orphanet:275745 Alpha-thalassemia and related disorders True True False Orphanet:275749 Beta-thalassemia and related diseases True True False Orphanet:275752 Sickle cell disease and related diseases True True False @@ -15084,9 +15210,9 @@ Orphanet:324767 Non-familial rare disease with dilated cardiomyopathy True True Orphanet:325357 46,XY difference of sex development due to impaired androgen production True True False Orphanet:325511 46,XY difference of sex development due to a cholesterol synthesis defect True True False Orphanet:325537 46,XY difference of sex development induced by maternal exposure to endocrine disruptors True True False -Orphanet:331184 Constitutional neutropenia with extra-hematopoietic manifestations True True False +Orphanet:331184 Syndrome with congenital neutropenia as a major feature True True False Orphanet:331240 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells True True False -Orphanet:331249 Immunodeficiency syndrome with hypopigmentation True True False +Orphanet:331249 Primary hemophagocytic lymphohistiocytosis with hypopigmentation True True False Orphanet:3399 Germ cell tumor True True False Orphanet:357502 Idiopathic nephrotic syndrome True True False Orphanet:35807 Malignant germ cell tumor of ovary True True False @@ -15112,7 +15238,6 @@ Orphanet:425368 Rare epithelial tumor of small intestine True True False Orphanet:42738 Severe congenital neutropenia True True False Orphanet:435365 Fetal lower urinary tract obstruction True True False Orphanet:435743 Congenital urachal anomaly True True False -Orphanet:439246 ABeta2M amyloidosis True True False Orphanet:439849 Autosomal recessive severe congenital neutropenia True True False Orphanet:443090 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect True True False Orphanet:444941 Caudal regression-sirenomelia spectrum True True False @@ -15136,7 +15261,6 @@ Orphanet:567554 Systemic disease with glomerulopathy as a major feature True Tru Orphanet:567564 Nephrotic syndrome without extrarenal manifestations True True False Orphanet:68364 Hemoglobinopathy True True False Orphanet:68383 Rare constitutional aplastic anemia True True False -Orphanet:69 Amyloidosis True True False Orphanet:73014 Intractable diarrhea of infancy True True False Orphanet:73217 Müllerian aplasia True True False Orphanet:79188 Peroxisomal beta-oxidation disorder True True False @@ -15155,6 +15279,7 @@ Orphanet:92 Juvenile idiopathic arthritis True True False Orphanet:93546 Non-syndromic renal or urinary tract malformation True True False Orphanet:93547 Syndromic renal or urinary tract malformation True True False Orphanet:93548 Glomerular disease True True False +Orphanet:95157 Acute hepatic porphyria True True False Orphanet:96346 Anorectal malformation True True False Orphanet:97292 Cardiogenic shock True True False Orphanet:97945 Intestinal malformation True True False @@ -15175,6 +15300,7 @@ Orphanet:98555 Microphthalmia-anophthalmia-coloboma True True False Orphanet:99739 Rare familial disorder with hypertrophic cardiomyopathy True True False Orphanet:99909 Occupational allergic alveolitis True True False Orphanet:99913 Extragonadal non-dysgerminomatous germ cell tumor True True False +Orphanet:101096 OBSOLETE: Aregenerative anemia True True True Orphanet:101949 OBSOLETE: Rare acquired eye disease True True True Orphanet:102373 OBSOLETE: Primary glomerular disease True True True Orphanet:103912 OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome True True True @@ -15182,6 +15308,7 @@ Orphanet:103916 OBSOLETE: Autoimmune enteropathy type 2 True True True Orphanet:108985 OBSOLETE: Non-syndromic developmental defect of the eye True True True Orphanet:108987 OBSOLETE: Syndromic developmental defect of the eye True True True Orphanet:1136 OBSOLETE: Arnold-Chiari malformation type II True True True +Orphanet:1240 Metaphyseal acroscyphodysplasia True True True Orphanet:1245 BIDS syndrome True True True Orphanet:1256 OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome True True True Orphanet:1306 NON RARE IN EUROPE: Buschke-Ollendorff syndrome True True True @@ -15189,15 +15316,24 @@ Orphanet:1317 CAMFAK syndrome True True True Orphanet:137653 Microcephaly-digital anomalies-intellectual disability syndrome True True True Orphanet:137911 Autism-facial port-wine stain syndrome True True True Orphanet:139420 OBSOLETE: Secondary acute transverse myelitis True True True +Orphanet:141327 OBSOLETE: Orofaciodigital syndrome type 12 True True True +Orphanet:141330 OBSOLETE: Orofaciodigital syndrome type 13 True True True +Orphanet:1455 OBSOLETE: Autosomal dominant coarctation of aorta True True True Orphanet:1526 OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome True True True +Orphanet:1562 OBSOLETE: Dacryocystitis-osteopoikilosis syndrome True True True Orphanet:158665 OBSOLETE: Basal epidermolysis bullosa simplex True True True Orphanet:158796 OBSOLETE: Classic mast cell leukemia True True True Orphanet:163903 OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens True True True Orphanet:163914 OBSOLETE: Limbic encephalitis with nCMAgs antibodies True True True Orphanet:163918 OBSOLETE: Non-paraneoplastic limbic encephalitis True True True Orphanet:163988 OBSOLETE: Developmental delay-deafness syndrome, Hildebrand type True True True +Orphanet:166011 Multiple epiphyseal dysplasia, Beighton type True True True +Orphanet:168486 OBSOLETE: Congenital neuronal ceroid lipofuscinosis True True True +Orphanet:168491 OBSOLETE: Late infantile neuronal ceroid lipofuscinosis True True True Orphanet:169615 NON RARE IN EUROPE: Idiopathic central precocious puberty True True True Orphanet:169618 NON RARE IN EUROPE: Secondary central precocious puberty True True True +Orphanet:1765 OBSOLETE: Dyschondrosteosis-nephritis syndrome True True True +Orphanet:178493 NON RARE IN EUROPE: Myopic macular degeneration True True True Orphanet:1795 OBSOLETE: Peripheral dysostosis True True True Orphanet:181425 OBSOLETE: Rare major hypertriglyceridemia True True True Orphanet:182073 OBSOLETE: Syndromic neurometabolic disease with non-X-linked intellectual disability True True True @@ -15217,18 +15353,12 @@ Orphanet:213524 Hereditary site-specific ovarian cancer syndrome True True True Orphanet:213574 OBSOLETE: Rare variants of adenocarcinoma of the corpus uteri True True True Orphanet:213817 OBSOLETE: Papillary carcinoma of the cervix uteri True True True Orphanet:2194 OBSOLETE: Anti-HLA hyperimmunization True True True -Orphanet:228329 OBSOLETE: CLN1 disease True True True -Orphanet:228337 OBSOLETE: CLN10 disease True True True +Orphanet:225 NON RARE IN EUROPE: Maternally-inherited diabetes and deafness True True True Orphanet:228340 OBSOLETE: CLN4A disease True True True -Orphanet:228343 OBSOLETE: CLN4B disease True True True -Orphanet:228346 OBSOLETE: CLN3 disease True True True -Orphanet:228349 OBSOLETE: CLN2 disease True True True -Orphanet:228354 OBSOLETE : CLN8 disease True True True Orphanet:228357 OBSOLETE: CLN9 disease True True True -Orphanet:228360 OBSOLETE: CLN5 disease True True True -Orphanet:228363 OBSOLETE: CLN6 disease True True True -Orphanet:228366 OBSOLETE: CLN7 disease True True True Orphanet:2292 OBSOLETE: Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome True True True +Orphanet:238 OBSOLETE: Digestive duplication True True True +Orphanet:238510 OBSOLETE: Lymphoproliferative syndrome True True True Orphanet:238755 OBSOLETE: Autosomal dominant limb-girdle muscular dystrophy type 1H True True True Orphanet:248305 OBSOLETE: Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency True True True Orphanet:251880 Ependymoblastoma True True True @@ -15239,8 +15369,10 @@ Orphanet:255249 Leigh syndrome with nephrotic syndrome True True True Orphanet:263558 OBSOLETE: Peeling skin syndrome type C True True True Orphanet:263676 OBSOLETE: Hereditary epidermolysis bullosa associated with ocular features True True True Orphanet:2641 OBSOLETE: Micromelic dwarfism, Fryns type True True True +Orphanet:2646 Parastremmatic dysplasia True True True Orphanet:264955 OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood True True True Orphanet:265 Autosomal dominant limb-girdle muscular dystrophy type 1C True True True +Orphanet:2653 OBSOLETE: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome True True True Orphanet:268377 OBSOLETE: Total spina bifida aperta True True True Orphanet:268384 OBSOLETE: Thoracolumbosacral spina bifida aperta True True True Orphanet:268388 OBSOLETE: Lumbosacral spina bifida aperta True True True @@ -15257,10 +15389,14 @@ Orphanet:268832 OBSOLETE: Lipoma associated with neurospinal dysraphism True Tru Orphanet:268835 Lipomyelomeningocele True True True Orphanet:268838 OBSOLETE: Leptomyelolipoma True True True Orphanet:2725 Eye defects-arachnodactyly-cardiopathy syndrome True True True +Orphanet:2729 Okamoto syndrome True True True +Orphanet:2752 Orofaciodigital syndrome type 3 True True True +Orphanet:2756 OBSOLETE: Orofaciodigital syndrome type 10 True True True Orphanet:280651 OBSOLETE: Acrodysostosis with multiple hormone resistance True True True Orphanet:280914 NON RARE IN EUROPE: Idiopathic anterior uveitis True True True Orphanet:2823 OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome True True True Orphanet:2861 OBSOLETE: Short stature-microcephaly-heart defect syndrome True True True +Orphanet:2878 OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome True True True Orphanet:289527 OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency True True True Orphanet:2925 OBSOLETE: Polymicrogyria-turricephaly-hypogenitalism syndrome True True True Orphanet:294929 OBSOLETE: Terminal limb defects True True True @@ -15278,55 +15414,76 @@ Orphanet:295179 OBSOLETE: Postaxial polydactyly of toes, unilateral True True Tr Orphanet:295181 OBSOLETE: Postaxial polydactyly of toes, bilateral True True True Orphanet:295183 OBSOLETE: Central polydactyly of toes, unilateral True True True Orphanet:295185 OBSOLETE: Central polydactyly of toes, bilateral True True True +Orphanet:295213 OBSOLETE: Humero-ulnar synostosis, unilateral True True True +Orphanet:295215 OBSOLETE: Humero-ulnar synostosis, bilateral True True True +Orphanet:295217 OBSOLETE: Radio-ulnar synostosis, unilateral True True True +Orphanet:295219 OBSOLETE: Radio-ulnar synostosis, bilateral True True True Orphanet:306507 LAMB2-related infantile-onset nephrotic syndrome True True True Orphanet:306539 OBSOLETE: Hereditary acrokeratotic poikiloderma of Kindler-Weary True True True Orphanet:306588 OBSOLETE: Autosomal dominant Opitz G/BBB syndrome True True True Orphanet:306762 OBSOLETE: Progressive epilepsy and/or ataxia with myoclonus as a major feature True True True -Orphanet:309239 OBSELETE:Tay-Sachs disease, B1 variant True True True +Orphanet:309239 OBSOLETE: Tay-Sachs disease, B1 variant True True True Orphanet:31142 NON RARE IN EUROPE: Oral erosive lichen True True True -Orphanet:314629 OBSOLETE: CLN11 disease True True True +Orphanet:3210 Summitt syndrome True True True +Orphanet:3226 Deafness-lymphedema-leukemia syndrome True True True Orphanet:3267 OBSOLETE: Familial lambdoid synostosis True True True Orphanet:329255 Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency True True True Orphanet:330197 OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome True True True +Orphanet:344 OBSOLETE: Arbovirus fever True True True Orphanet:3460 Torg-Winchester syndrome True True True Orphanet:35061 OBSOLETE: Idiopathic recurrent and disabling cutaneous herpes True True True Orphanet:35064 OBSOLETE: Lethal idiopathic viral infection True True True Orphanet:35098 OBSOLETE: Isolated plagiocephaly True True True -Orphanet:352709 OBSOLETE: CLN13 disease True True True Orphanet:352740 Ocular albinism with congenital sensorineural deafness True True True +Orphanet:364817 OBSOLETE: Aggrecan-related bone disorder True True True Orphanet:370019 Spondylometaphyseal dysplasia, Czarny-Ratajczak type True True True Orphanet:371054 OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature True True True Orphanet:371064 OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature True True True +Orphanet:398980 OBSOLETE: Primary peritoneal serous/papillary carcinoma True True True Orphanet:413 NON RARE IN EUROPE: Hyperlipoproteinemia type 4 True True True Orphanet:443287 OBSOLETE: ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor True True True Orphanet:448348 OBSOLETE: X-linked acrogigantism due to a point mutation True True True +Orphanet:458827 OBSOLETE: Vascular tumor with associated anomalies True True True Orphanet:458841 OBSOLETE: Primary lymphedema with associated anomalies True True True Orphanet:459690 NON RARE IN EUROPE: Gender dysphoria True True True Orphanet:466801 OBSOLETE: LIMS2-related myopathy True True True +Orphanet:476102 OBSOLETE: Hereditary pediatric Behçet-like disease True True True Orphanet:493348 OBSOLETE: Vibratory angioedema True True True Orphanet:498700 OBSOLETE: Limbic encephalitis with neurexin-3 antibodies True True True Orphanet:499004 OBSOLETE: Tuberculous meningitis True True True Orphanet:553 OBSOLETE: Cushing syndrome True True True Orphanet:587 Muir-Torre syndrome True True True +Orphanet:592885 OBSOLETE: Isolated optic neuritis without anti-MOG antibodies True True True +Orphanet:592888 OBSOLETE: Isolated optic neuritis with anti-MOG antibodies True True True Orphanet:623 NAME syndrome True True True +Orphanet:65250 NON RARE IN EUROPE: Perineural cyst True True True +Orphanet:656273 OBSOLETE: Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome True True True +Orphanet:65798 Goodman syndrome True True True Orphanet:70474 Leigh syndrome with cardiomyopathy True True True Orphanet:717 OBSOLETE: Catecholamine-producing tumor True True True Orphanet:759 NON RARE IN EUROPE: Central precocious puberty True True True Orphanet:79211 OBSOLETE: Combined hyperlipidemia True True True +Orphanet:79262 OBSOLETE: Adult neuronal ceroid lipofuscinosis True True True +Orphanet:79263 OBSOLETE: Infantile neuronal ceroid lipofuscinosis True True True +Orphanet:79264 OBSOLETE: Juvenile neuronal ceroid lipofuscinosis True True True Orphanet:82004 Ehlers-Danlos syndrome with periventricular heterotopia True True True Orphanet:83648 OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome True True True Orphanet:85196 Nodulosis-arthropathy-osteolysis syndrome True True True +Orphanet:85200 Ischio-vertebral syndrome True True True Orphanet:89832 OBSOLETE: Syndromic lymphedema True True True Orphanet:93221 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with minimal changes True True True Orphanet:93222 OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation True True True Orphanet:93359 OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity True True True +Orphanet:93424 OBSOLETE: Perlecan-related bone disorder True True True Orphanet:93550 OBSOLETE: Basement membrane disease True True True Orphanet:93551 OBSOLETE: Secondary glomerular disease True True True +Orphanet:93569 NON RARE IN EUROPE: Polymyalgia rheumatica True True True Orphanet:93604 OBSOLETE: Antenatal Bartter syndrome True True True Orphanet:93942 OBSOLETE: Superior celosomia True True True Orphanet:93970 Holmes-Gang syndrome True True True Orphanet:93972 Juberg-Marsidi syndrome True True True Orphanet:93975 OBSOLETE: Renier-Gabreels-Jasper syndrome True True True +Orphanet:95161 OBSOLETE: Chronic hepatic porphyria True True True Orphanet:95493 OBSOLETE: Abnormal origin or aberrant course of coronary artery True True True Orphanet:95701 OBSOLETE: Congenital adrenal hypoplasia of maternal cause True True True Orphanet:96136 OBSOLETE: Non-distal monosomy 7p True True True @@ -15398,6 +15555,8 @@ Orphanet:98711 OBSOLETE: Metabolic disease with corneal opacity True True True Orphanet:98712 OBSOLETE: Metabolic disease with cataract True True True Orphanet:98713 OBSOLETE: Metabolic disease with pigmentary retinitis True True True Orphanet:98714 OBSOLETE: Metabolic disease with macular cherry-red spot True True True +Orphanet:98975 Congenital hereditary endothelial dystrophy type I True True True +Orphanet:99647 Cheirospondyloenchondromatosis True True True Orphanet:99763 OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1 True True True Orphanet:99878 OBSOLETE: Primary parathyroid hyperplasia True True True Orphanet:99893 OBSOLETE: ACTH-independent Cushing syndrome True True True diff --git a/src/ontology/reports/ordo_term_exclusions.txt b/src/ontology/reports/ordo_term_exclusions.txt index 83c14950..2c8d0ec2 100644 --- a/src/ontology/reports/ordo_term_exclusions.txt +++ b/src/ontology/reports/ordo_term_exclusions.txt @@ -14,6 +14,7 @@ Orphanet:101033 Orphanet:101036 Orphanet:101042 Orphanet:101052 +Orphanet:101096 Orphanet:1011 Orphanet:101106 Orphanet:101107 @@ -822,7 +823,6 @@ Orphanet:121062 Orphanet:121066 Orphanet:121069 Orphanet:121073 -Orphanet:121089 Orphanet:121091 Orphanet:121098 Orphanet:1211 @@ -1318,7 +1318,6 @@ Orphanet:123245 Orphanet:123253 Orphanet:123257 Orphanet:123263 -Orphanet:123269 Orphanet:123271 Orphanet:123279 Orphanet:123290 @@ -1459,7 +1458,6 @@ Orphanet:123884 Orphanet:123889 Orphanet:123893 Orphanet:123897 -Orphanet:1239 Orphanet:123902 Orphanet:123912 Orphanet:123916 @@ -1476,6 +1474,7 @@ Orphanet:123974 Orphanet:123978 Orphanet:123982 Orphanet:123996 +Orphanet:1240 Orphanet:124003 Orphanet:124007 Orphanet:124012 @@ -1611,6 +1610,7 @@ Orphanet:138530 Orphanet:138533 Orphanet:138543 Orphanet:138557 +Orphanet:138561 Orphanet:138568 Orphanet:138570 Orphanet:138575 @@ -1696,12 +1696,15 @@ Orphanet:140567 Orphanet:1408 Orphanet:1409 Orphanet:141136 +Orphanet:141327 +Orphanet:141330 Orphanet:1417 Orphanet:1420 Orphanet:1421 Orphanet:1428 Orphanet:1432 Orphanet:1434 +Orphanet:1455 Orphanet:1474 Orphanet:1480 Orphanet:1492 @@ -1719,6 +1722,7 @@ Orphanet:156071 Orphanet:156077 Orphanet:156152 Orphanet:156156 +Orphanet:1562 Orphanet:1564 Orphanet:156723 Orphanet:1569 @@ -1766,7 +1770,6 @@ Orphanet:159075 Orphanet:159080 Orphanet:159084 Orphanet:159087 -Orphanet:159118 Orphanet:159122 Orphanet:159134 Orphanet:159137 @@ -1963,6 +1966,7 @@ Orphanet:165961 Orphanet:165966 Orphanet:165976 Orphanet:165994 +Orphanet:166011 Orphanet:166055 Orphanet:166068 Orphanet:166255 @@ -2036,6 +2040,8 @@ Orphanet:168413 Orphanet:168420 Orphanet:168426 Orphanet:168448 +Orphanet:168486 +Orphanet:168491 Orphanet:168609 Orphanet:168807 Orphanet:168943 @@ -2063,7 +2069,6 @@ Orphanet:169953 Orphanet:169957 Orphanet:169960 Orphanet:171034 -Orphanet:171038 Orphanet:171045 Orphanet:171050 Orphanet:171052 @@ -2121,6 +2126,7 @@ Orphanet:173556 Orphanet:173562 Orphanet:1739 Orphanet:176228 +Orphanet:1765 Orphanet:1767 Orphanet:1773 Orphanet:178077 @@ -2128,6 +2134,7 @@ Orphanet:178082 Orphanet:178120 Orphanet:178127 Orphanet:178330 +Orphanet:178493 Orphanet:178503 Orphanet:178548 Orphanet:178551 @@ -2466,6 +2473,7 @@ Orphanet:223735 Orphanet:2243 Orphanet:2244 Orphanet:2245 +Orphanet:225 Orphanet:225243 Orphanet:225264 Orphanet:225280 @@ -2517,17 +2525,8 @@ Orphanet:227786 Orphanet:228215 Orphanet:228315 Orphanet:228318 -Orphanet:228329 -Orphanet:228337 Orphanet:228340 -Orphanet:228343 -Orphanet:228346 -Orphanet:228349 -Orphanet:228354 Orphanet:228357 -Orphanet:228360 -Orphanet:228363 -Orphanet:228366 Orphanet:2284 Orphanet:228407 Orphanet:228418 @@ -2593,6 +2592,7 @@ Orphanet:236967 Orphanet:236971 Orphanet:237462 Orphanet:237464 +Orphanet:238 Orphanet:238510 Orphanet:238517 Orphanet:238544 @@ -2650,7 +2650,6 @@ Orphanet:242929 Orphanet:2431 Orphanet:243377 Orphanet:243761 -Orphanet:2442 Orphanet:244206 Orphanet:244275 Orphanet:244279 @@ -2819,6 +2818,7 @@ Orphanet:2641 Orphanet:264428 Orphanet:264482 Orphanet:264501 +Orphanet:2646 Orphanet:264656 Orphanet:264663 Orphanet:264665 @@ -2850,6 +2850,7 @@ Orphanet:265 Orphanet:2650 Orphanet:265147 Orphanet:265258 +Orphanet:2653 Orphanet:2654 Orphanet:265487 Orphanet:265490 @@ -2949,8 +2950,8 @@ Orphanet:2705 Orphanet:2706 Orphanet:2708 Orphanet:2716 -Orphanet:271861 Orphanet:2725 +Orphanet:2729 Orphanet:2731 Orphanet:2739 Orphanet:273977 @@ -2959,7 +2960,9 @@ Orphanet:2742 Orphanet:274222 Orphanet:274226 Orphanet:274231 +Orphanet:2752 Orphanet:275534 +Orphanet:2756 Orphanet:275745 Orphanet:275749 Orphanet:275752 @@ -3098,6 +3101,7 @@ Orphanet:286639 Orphanet:2870 Orphanet:287069 Orphanet:287584 +Orphanet:2878 Orphanet:288959 Orphanet:288971 Orphanet:289008 @@ -3275,6 +3279,10 @@ Orphanet:295205 Orphanet:295207 Orphanet:295209 Orphanet:295211 +Orphanet:295213 +Orphanet:295215 +Orphanet:295217 +Orphanet:295219 Orphanet:295221 Orphanet:295223 Orphanet:295234 @@ -3453,7 +3461,6 @@ Orphanet:3135 Orphanet:313822 Orphanet:313834 Orphanet:3140 -Orphanet:314629 Orphanet:314731 Orphanet:314894 Orphanet:314928 @@ -3542,6 +3549,7 @@ Orphanet:320765 Orphanet:320785 Orphanet:320793 Orphanet:320815 +Orphanet:3210 Orphanet:3212 Orphanet:3213 Orphanet:321333 @@ -3557,6 +3565,7 @@ Orphanet:322097 Orphanet:3221 Orphanet:322104 Orphanet:322120 +Orphanet:3226 Orphanet:3228 Orphanet:322841 Orphanet:322852 @@ -3729,6 +3738,7 @@ Orphanet:3421 Orphanet:3423 Orphanet:3435 Orphanet:3438 +Orphanet:344 Orphanet:34412 Orphanet:3444 Orphanet:3446 @@ -3759,7 +3769,6 @@ Orphanet:352646 Orphanet:352694 Orphanet:352699 Orphanet:352704 -Orphanet:352709 Orphanet:352740 Orphanet:353211 Orphanet:353225 @@ -3772,7 +3781,6 @@ Orphanet:353369 Orphanet:353372 Orphanet:353460 Orphanet:353497 -Orphanet:353516 Orphanet:353524 Orphanet:353548 Orphanet:353576 @@ -3893,6 +3901,7 @@ Orphanet:364667 Orphanet:364766 Orphanet:364789 Orphanet:364799 +Orphanet:364817 Orphanet:364825 Orphanet:364829 Orphanet:364833 @@ -3999,7 +4008,6 @@ Orphanet:377662 Orphanet:377672 Orphanet:377682 Orphanet:377743 -Orphanet:377752 Orphanet:378 Orphanet:383 Orphanet:387 @@ -4053,6 +4061,7 @@ Orphanet:398201 Orphanet:398212 Orphanet:398416 Orphanet:398677 +Orphanet:398980 Orphanet:400438 Orphanet:400443 Orphanet:400463 @@ -4371,7 +4380,6 @@ Orphanet:438066 Orphanet:438089 Orphanet:438271 Orphanet:438982 -Orphanet:439246 Orphanet:439849 Orphanet:440 Orphanet:440122 @@ -4507,7 +4515,6 @@ Orphanet:456808 Orphanet:456826 Orphanet:456828 Orphanet:456982 -Orphanet:456990 Orphanet:456998 Orphanet:457009 Orphanet:457065 @@ -4526,7 +4533,6 @@ Orphanet:457562 Orphanet:457568 Orphanet:457570 Orphanet:457585 -Orphanet:457688 Orphanet:457735 Orphanet:458247 Orphanet:458253 @@ -4534,6 +4540,7 @@ Orphanet:458270 Orphanet:458274 Orphanet:458278 Orphanet:458713 +Orphanet:458827 Orphanet:458841 Orphanet:458989 Orphanet:459019 @@ -4629,6 +4636,7 @@ Orphanet:469930 Orphanet:469932 Orphanet:469946 Orphanet:469950 +Orphanet:469958 Orphanet:469962 Orphanet:469968 Orphanet:469974 @@ -4644,27 +4652,28 @@ Orphanet:470040 Orphanet:470042 Orphanet:470052 Orphanet:470056 +Orphanet:470064 Orphanet:470084 Orphanet:470086 Orphanet:470098 Orphanet:470102 +Orphanet:470116 Orphanet:470128 Orphanet:470140 Orphanet:470146 Orphanet:470150 Orphanet:470152 -Orphanet:470170 Orphanet:470180 Orphanet:470184 Orphanet:470200 Orphanet:470204 Orphanet:470220 -Orphanet:470228 Orphanet:470234 Orphanet:470266 Orphanet:470272 Orphanet:470274 Orphanet:470286 +Orphanet:470292 Orphanet:470322 Orphanet:470342 Orphanet:470348 @@ -4706,6 +4715,7 @@ Orphanet:470698 Orphanet:470718 Orphanet:470720 Orphanet:470722 +Orphanet:470724 Orphanet:470736 Orphanet:470748 Orphanet:470768 @@ -4713,6 +4723,7 @@ Orphanet:470770 Orphanet:470780 Orphanet:470800 Orphanet:470810 +Orphanet:470826 Orphanet:470828 Orphanet:470872 Orphanet:470874 @@ -4724,6 +4735,7 @@ Orphanet:470934 Orphanet:470948 Orphanet:470980 Orphanet:470984 +Orphanet:470992 Orphanet:470996 Orphanet:470998 Orphanet:471000 @@ -4738,7 +4750,7 @@ Orphanet:471062 Orphanet:471070 Orphanet:471072 Orphanet:471076 -Orphanet:471078 +Orphanet:471090 Orphanet:471096 Orphanet:471110 Orphanet:471112 @@ -4758,6 +4770,7 @@ Orphanet:471214 Orphanet:471224 Orphanet:471232 Orphanet:471234 +Orphanet:471244 Orphanet:471250 Orphanet:471260 Orphanet:471262 @@ -4778,8 +4791,8 @@ Orphanet:474406 Orphanet:474419 Orphanet:474429 Orphanet:474467 -Orphanet:474489 Orphanet:475300 +Orphanet:476102 Orphanet:476149 Orphanet:476167 Orphanet:476274 @@ -4943,6 +4956,7 @@ Orphanet:494252 Orphanet:494348 Orphanet:494881 Orphanet:494894 +Orphanet:494899 Orphanet:494915 Orphanet:494919 Orphanet:494927 @@ -5016,7 +5030,6 @@ Orphanet:506216 Orphanet:506219 Orphanet:506222 Orphanet:506225 -Orphanet:506368 Orphanet:506401 Orphanet:506519 Orphanet:507587 @@ -5037,6 +5050,7 @@ Orphanet:50838 Orphanet:508638 Orphanet:508692 Orphanet:508711 +Orphanet:508946 Orphanet:508970 Orphanet:508976 Orphanet:509002 @@ -5054,6 +5068,7 @@ Orphanet:509234 Orphanet:509236 Orphanet:509258 Orphanet:509260 +Orphanet:509262 Orphanet:509296 Orphanet:509298 Orphanet:509320 @@ -5072,6 +5087,7 @@ Orphanet:512034 Orphanet:512271 Orphanet:512453 Orphanet:512465 +Orphanet:512501 Orphanet:512553 Orphanet:513 Orphanet:513401 @@ -5081,7 +5097,6 @@ Orphanet:513968 Orphanet:513988 Orphanet:514000 Orphanet:514006 -Orphanet:514010 Orphanet:514012 Orphanet:514016 Orphanet:514052 @@ -5211,6 +5226,7 @@ Orphanet:529292 Orphanet:529328 Orphanet:529590 Orphanet:529620 +Orphanet:529660 Orphanet:529710 Orphanet:529730 Orphanet:529744 @@ -5361,6 +5377,7 @@ Orphanet:572348 Orphanet:572371 Orphanet:572405 Orphanet:572412 +Orphanet:572421 Orphanet:572477 Orphanet:572486 Orphanet:573010 @@ -5377,6 +5394,7 @@ Orphanet:581332 Orphanet:58208 Orphanet:58220 Orphanet:583333 +Orphanet:584317 Orphanet:585329 Orphanet:585336 Orphanet:585349 @@ -5404,7 +5422,10 @@ Orphanet:587127 Orphanet:587138 Orphanet:587142 Orphanet:587177 +Orphanet:592885 +Orphanet:592888 Orphanet:594386 +Orphanet:594394 Orphanet:594424 Orphanet:594489 Orphanet:594573 @@ -5419,6 +5440,7 @@ Orphanet:596998 Orphanet:597004 Orphanet:597032 Orphanet:597034 +Orphanet:597042 Orphanet:599070 Orphanet:599155 Orphanet:599174 @@ -5426,7 +5448,6 @@ Orphanet:599181 Orphanet:599195 Orphanet:599197 Orphanet:599199 -Orphanet:599201 Orphanet:599209 Orphanet:599213 Orphanet:599215 @@ -5443,6 +5464,7 @@ Orphanet:599932 Orphanet:600014 Orphanet:600016 Orphanet:600062 +Orphanet:600070 Orphanet:600094 Orphanet:600112 Orphanet:600142 @@ -5452,19 +5474,25 @@ Orphanet:600209 Orphanet:600231 Orphanet:600279 Orphanet:600291 +Orphanet:600297 Orphanet:600313 Orphanet:600321 Orphanet:600395 +Orphanet:600435 Orphanet:600439 +Orphanet:600449 Orphanet:600475 Orphanet:600529 Orphanet:600533 Orphanet:600541 +Orphanet:600559 Orphanet:600577 Orphanet:600633 Orphanet:600635 Orphanet:600645 Orphanet:600655 +Orphanet:600904 +Orphanet:600936 Orphanet:600946 Orphanet:601404 Orphanet:601410 @@ -5668,20 +5696,40 @@ Orphanet:650070 Orphanet:650182 Orphanet:650187 Orphanet:651 +Orphanet:65250 Orphanet:652510 Orphanet:65279 Orphanet:652816 Orphanet:653434 Orphanet:653915 +Orphanet:656273 +Orphanet:65798 +Orphanet:660030 +Orphanet:660763 +Orphanet:662194 +Orphanet:662222 +Orphanet:663289 +Orphanet:663458 +Orphanet:663850 +Orphanet:663868 +Orphanet:663910 +Orphanet:663918 +Orphanet:664482 Orphanet:665 Orphanet:669 Orphanet:670 Orphanet:67037 +Orphanet:672842 +Orphanet:674734 +Orphanet:676458 +Orphanet:676489 +Orphanet:677320 Orphanet:680 +Orphanet:682951 +Orphanet:683067 Orphanet:68364 Orphanet:68383 Orphanet:68388 -Orphanet:69 Orphanet:69127 Orphanet:70470 Orphanet:70474 @@ -5723,6 +5771,9 @@ Orphanet:79213 Orphanet:79225 Orphanet:79260 Orphanet:79261 +Orphanet:79262 +Orphanet:79263 +Orphanet:79264 Orphanet:79289 Orphanet:79316 Orphanet:79317 @@ -5751,6 +5802,7 @@ Orphanet:84271 Orphanet:850 Orphanet:85142 Orphanet:85196 +Orphanet:85200 Orphanet:85281 Orphanet:85289 Orphanet:85291 @@ -5839,6 +5891,7 @@ Orphanet:93385 Orphanet:93389 Orphanet:93393 Orphanet:93395 +Orphanet:93424 Orphanet:93427 Orphanet:93435 Orphanet:93445 @@ -5858,6 +5911,7 @@ Orphanet:93559 Orphanet:93564 Orphanet:93566 Orphanet:93567 +Orphanet:93569 Orphanet:93575 Orphanet:93576 Orphanet:93578 @@ -5896,6 +5950,8 @@ Orphanet:94062 Orphanet:94084 Orphanet:94095 Orphanet:946 +Orphanet:95157 +Orphanet:95161 Orphanet:953 Orphanet:95426 Orphanet:95449 @@ -6151,6 +6207,7 @@ Orphanet:98894 Orphanet:98932 Orphanet:98941 Orphanet:98968 +Orphanet:98975 Orphanet:98983 Orphanet:98986 Orphanet:98987 @@ -6174,6 +6231,7 @@ Orphanet:99151 Orphanet:99166 Orphanet:995 Orphanet:99645 +Orphanet:99647 Orphanet:99648 Orphanet:99649 Orphanet:99650 diff --git a/src/ontology/reports/ordo_unmapped_terms.tsv b/src/ontology/reports/ordo_unmapped_terms.tsv index 8f784fdb..8805c859 100644 --- a/src/ontology/reports/ordo_unmapped_terms.tsv +++ b/src/ontology/reports/ordo_unmapped_terms.tsv @@ -3,12 +3,142 @@ Orphanet:409975 1-5 / 10 000 Orphanet:409976 1-9 / 1 000 000 Orphanet:409977 1-9 / 100 000 Orphanet:409978 6-9 / 10 000 +Orphanet:664404 6q25.1 microdeletion syndrome Orphanet:409979 <1 / 1 000 000 Orphanet:409980 >1 / 1000 +Orphanet:675597 Acquired elastotic haemangioma +Orphanet:674653 Actinomyopathy-associated syndromic thrombocytopenia +Orphanet:662934 Acute megakaryoblastic leukemia in adult +Orphanet:675976 Adenomatoid tumour of the peritoneum +Orphanet:675814 Adenomatoid tumour of the pleura +Orphanet:675359 Anastomosing haemangioma +Orphanet:1239 Behr syndrome +Orphanet:673470 Benign vascular tumor +Orphanet:674968 Bilateral diffuse uveal melanocytic proliferation disease +Orphanet:673473 Borderline vascular tumor +Orphanet:664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome +Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation +Orphanet:667662 Breast implant-associated anaplastic large cell lymphoma +Orphanet:664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation +Orphanet:674965 Choroidal osteoma +Orphanet:673580 Classic pilocytic astrocytoma +Orphanet:659396 Cohen-Gibson syndrome +Orphanet:662392 Colonic duplication +Orphanet:676039 Combined immunodeficiency due to FOXN1 haploinsufficiency +Orphanet:665044 Common arterial trunk with aortic dominance +Orphanet:665058 Common arterial trunk with pulmonary dominance and interrupted aortic arch +Orphanet:664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome +Orphanet:662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome +Orphanet:672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome +Orphanet:672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome +Orphanet:660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome +Orphanet:660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation +Orphanet:674947 Diffuse unilateral subacute neuroretinitis +Orphanet:675837 Diffused pleural mesothelioma +Orphanet:662473 Duodenal duplication +Orphanet:664734 EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature +Orphanet:664726 EBV-induced lymphoproliferative disease due to CD137 deficiency +Orphanet:664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency +Orphanet:664699 EBV-induced lymphoproliferative disease due to RASGRP1 deficiency +Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency +Orphanet:674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency +Orphanet:664511 Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency +Orphanet:673568 Eccrine angiomatous hamartoma +Orphanet:662229 Episodic memory defect leukoencephalopathy +Orphanet:675396 Epithelioid hemangioma +Orphanet:659681 Erythropoietic porphyria +Orphanet:659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome +Orphanet:662240 Frey syndrome +Orphanet:662388 Gallbladder duplication +Orphanet:662376 Gastric duplication +Orphanet:664438 Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome +Orphanet:659908 Glanders +Orphanet:662255 Grisel syndrome +Orphanet:659672 Harderoporphyria +Orphanet:659698 Hepatic cutaneous porphyria +Orphanet:659694 Hepatic porphyria +Orphanet:664500 Hermansky-Pudlak syndrome due to AP3B1 deficiency +Orphanet:675362 Hobnail hemangioma +Orphanet:659463 Imagawa-Matsumoto syndrome +Orphanet:664456 Immune dysregulation disease with immunodeficiency associated with EBV susceptibility +Orphanet:664450 Inherited cancer-predisposing lymphoproliferative syndrome +Orphanet:662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome +Orphanet:667678 Intraoral basal cell carcinoma +Orphanet:659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome +Orphanet:673525 Intravascular papillary endothelial hyperplasia +Orphanet:674943 Isolated angioid streaks +Orphanet:667589 Isolated congenital femoral bifurcation +Orphanet:674924 Isolated retinal racemose hemangioma +Orphanet:675380 Isolated segmental infantile hemangioma +Orphanet:662480 Jujeno-ileal duplication +Orphanet:673538 Littoral cell hemangioma of the spleen +Orphanet:675833 Localized pleural mesothelioma +Orphanet:661526 MBD4-related tumor predisposition syndrome +Orphanet:664377 MGP-related spondyloepiphyseal dysplasia +Orphanet:662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome +Orphanet:673466 Malignant vascular tumor +Orphanet:675404 May-Thurner syndrome +Orphanet:661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency +Orphanet:662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome +Orphanet:675369 Microvenular haemangioma +Orphanet:662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome +Orphanet:662216 Mucopolysaccharidosis type 10 +Orphanet:659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome +Orphanet:674953 Multiple evanescent white dot syndrome +Orphanet:662367 NESCAV syndrome +Orphanet:664912 Neonatal renal venous thrombosis +Orphanet:662207 Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome +Orphanet:662234 Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome +Orphanet:662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome +Orphanet:662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome +Orphanet:664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome +Orphanet:664787 Nicolau syndrome +Orphanet:674896 Non-syndromic congenital phagocyte functional defect +Orphanet:659744 Ocular surface squamous neoplasia +Orphanet:660021 Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome +Orphanet:659756 Oroya fever +Orphanet:659387 PRC-2 complex-related overgrowth spectrum +Orphanet:673543 Papillary hemangioma +Orphanet:674930 Perifoveal exudative vascular anomalous complex +Orphanet:676036 Peritoneal mesothelioma in situ +Orphanet:662169 Phelan-McDermid syndrome due to 22q13.3 deletion +Orphanet:662172 Phelan-McDermid syndrome due to SHANK3 mutation +Orphanet:673585 Pilocytic astrocytoma with histological features of anaplasia +Orphanet:662721 Placenta accreta spectrum disorder +Orphanet:675841 Pleural mesothelioma in situ +Orphanet:676030 Primary benign peritoneal tumor +Orphanet:675782 Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN +Orphanet:674499 Proteoglycan-related bone disorder +Orphanet:673556 Pseudomyogenic hemangioendothelioma +Orphanet:660053 Psittacosis +Orphanet:662405 Pyloric duplication +Orphanet:659712 Rare yersiniosis +Orphanet:659642 Rauch-Steindl syndrome +Orphanet:673574 Reactive angioendotheliomatosis +Orphanet:659634 Relapsing isolated optic neuritis +Orphanet:659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome +Orphanet:675775 Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome +Orphanet:675767 Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency +Orphanet:659626 Single isolated optic neuritis +Orphanet:662456 Small intestine duplication +Orphanet:664372 Soft and hard cleft palate +Orphanet:675216 Spinocerebellar ataxia type 27B +Orphanet:674958 Stellate multiform amelanotic choroidopathy +Orphanet:674648 Syndrome with congenital phagocyte functional defect as a major feature +Orphanet:675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome +Orphanet:674935 Torpedo Maculopathy +Orphanet:664901 Trigeminal trophic syndrome Orphanet:409981 Unknown_epidemiological_range +Orphanet:662786 Vasa previa +Orphanet:659759 Verruga peruana +Orphanet:676033 Well-differentiated papillary mesothelial tumour of the peritoneum +Orphanet:675822 Well-differentiated papillary mesothelial tumour of the pleura +Orphanet:659873 Wormian bones-micrognathia-abnormal dentition-progeroid syndrome Orphanet:409934 X-linked dominant +Orphanet:676125 X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency Orphanet:409932 X-linked recessive Orphanet:409938 Y-linked +Orphanet:659707 Yersinia pseudotuberculosis infection Orphanet:409947 adolescent Orphanet:409948 adult Orphanet:C023 age of onset diff --git a/src/ontology/reports/sync-subClassOf.confirmed.tsv b/src/ontology/reports/sync-subClassOf.confirmed.tsv index e45ada6b..75bb99a8 100644 --- a/src/ontology/reports/sync-subClassOf.confirmed.tsv +++ b/src/ontology/reports/sync-subClassOf.confirmed.tsv @@ -3297,6 +3297,7 @@ MONDO:0005061 lung adenocarcinoma MONDO:0004970 DOID:3910 DOID:299 adenocarcinom MONDO:0005061 lung adenocarcinoma MONDO:0005233 DOID:3910 DOID:3908 non-small cell lung carcinoma MONDO:0005067 monophasic synovial sarcoma MONDO:0010434 DOID:5495 DOID:5485 synovial sarcoma MONDO:0005074 papillary cystadenocarcinoma MONDO:0005596 DOID:3110 DOID:3111 cystadenocarcinoma +MONDO:0005075 thyroid gland papillary carcinoma MONDO:0002512 DOID:3969 DOID:3112 papillary adenocarcinoma MONDO:0005075 thyroid gland papillary carcinoma MONDO:0015447 DOID:3969 DOID:0080525 differentiated thyroid carcinoma MONDO:0005076 periodontitis MONDO:0002635 DOID:824 DOID:3388 periodontal disorder MONDO:0005080 portal hypertension MONDO:0002405 DOID:10762 DOID:272 hepatic vascular disorder @@ -4068,7 +4069,6 @@ MONDO:0006881 orbital cellulitis MONDO:0001230 DOID:11234 DOID:11230 acute orbit MONDO:0006882 orchitis MONDO:0002329 DOID:2518 DOID:2519 testicular disorder MONDO:0006883 malignant superior sulcus neoplasm MONDO:0008903 DOID:8007 DOID:1324 lung cancer MONDO:0006884 panophthalmitis MONDO:0004863 DOID:13732 DOID:9724 purulent endophthalmitis -MONDO:0006886 thyroid gland papillary and follicular carcinoma MONDO:0005075 DOID:3968 DOID:3969 thyroid gland papillary carcinoma MONDO:0006887 parametritis MONDO:0000922 DOID:1260 DOID:1003 pelvic inflammatory disease MONDO:0006889 paraphimosis MONDO:0006904 DOID:5334 DOID:2712 phimosis MONDO:0006890 parathyroid gland adenoma MONDO:0004972 DOID:7608 DOID:657 adenoma @@ -4621,6 +4621,7 @@ MONDO:0008892 progressive familial intrahepatic cholestasis type 1 MONDO:0015762 MONDO:0008903 lung cancer MONDO:0000376 DOID:1324 DOID:0050615 respiratory system cancer MONDO:0008907 PMM2-congenital disorder of glycosylation MONDO:0005500 DOID:0080552 DOID:0050570 congenital disorder of glycosylation type I MONDO:0008908 MGAT2-congenital disorder of glycosylation MONDO:0005501 DOID:0070253 DOID:0050571 congenital disorder of glycosylation type II +MONDO:0008919 systemic primary carnitine deficiency disease MONDO:0004736 DOID:14365 DOID:9252 inborn disorder of amino acid metabolism MONDO:0008922 Sengers syndrome MONDO:0018158 DOID:0080132 DOID:0070329 mitochondrial DNA depletion syndrome MONDO:0008923 autosomal recessive palmoplantar keratoderma and congenital alopecia MONDO:0019287 DOID:0111245 DOID:2121 ectodermal dysplasia syndrome MONDO:0008944 Joubert syndrome 1 MONDO:0018772 DOID:0110980 DOID:0050777 Joubert syndrome @@ -4807,6 +4808,7 @@ MONDO:0009624 microcephaly and chorioretinopathy 1 MONDO:0002254 DOID:0080105 DO MONDO:0009626 pseudo-TORCH syndrome MONDO:0006025 DOID:0050656 DOID:0050737 autosomal recessive disease MONDO:0009627 Galloway-Mowat syndrome MONDO:0002254 DOID:0080694 DOID:225 syndromic disease MONDO:0009631 isolated microphthalmia 1 MONDO:0000062 DOID:0060840 DOID:0080637 isolated microphthalmia +MONDO:0009642 orofaciodigital syndrome type II MONDO:0015375 DOID:0060959 DOID:4501 orofaciodigital syndrome MONDO:0009643 sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:0020480 DOID:0111164 DOID:0111165 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0009644 sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0020480 DOID:0111163 DOID:0111165 sulfite oxidase deficiency due to molybdenum cofactor deficiency MONDO:0009655 mucopolysaccharidosis type 3A MONDO:0018937 DOID:0111395 DOID:12801 mucopolysaccharidosis type 3 @@ -4983,6 +4985,7 @@ MONDO:0010215 xeroderma pigmentosum group F MONDO:0019600 DOID:0110848 DOID:0050 MONDO:0010216 xeroderma pigmentosum group G MONDO:0019600 DOID:0110849 DOID:0050427 xeroderma pigmentosum MONDO:0010218 46,XX sex reversal 2 MONDO:0100249 DOID:0111763 DOID:0111760 46,XX testicular disorder of sex development MONDO:0010224 corpus callosum agenesis-abnormal genitalia syndrome MONDO:0002254 DOID:0112151 DOID:225 syndromic disease +MONDO:0010225 Dent disease type 1 MONDO:0015612 DOID:0081453 DOID:0050699 Dent disease MONDO:0010226 46,XY sex reversal 2 MONDO:0010765 DOID:0111777 DOID:14448 46,XY complete gonadal dysgenesis MONDO:0010227 retinitis pigmentosa 3 MONDO:0019200 DOID:0110414 DOID:10584 retinitis pigmentosa MONDO:0010228 hearing loss, X-linked 3 MONDO:0019586 DOID:0111736 DOID:0050566 X-linked nonsyndromic hearing loss @@ -5039,6 +5042,7 @@ MONDO:0010351 Fanconi anemia complementation group B MONDO:0019391 DOID:0111098 MONDO:0010352 intellectual disability, X-linked 82 MONDO:0019181 DOID:0112052 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010355 syndromic X-linked intellectual disability Claes-Jensen type MONDO:0020119 DOID:0060809 DOID:0060309 X-linked syndromic intellectual disability MONDO:0010358 hypophosphatemic rickets, X-linked recessive MONDO:0020605 DOID:0080353 DOID:0080012 X-linked recessive disease +MONDO:0010359 Dent disease type 2 MONDO:0015612 DOID:0081454 DOID:0050699 Dent disease MONDO:0010361 intellectual disability, X-linked 30 MONDO:0019181 DOID:0112051 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010363 intellectual disability, X-linked 91 MONDO:0019181 DOID:0112043 DOID:0050776 non-syndromic X-linked intellectual disability MONDO:0010365 myopathy, congenital, with fiber-type disproportion, X-linked MONDO:0009711 DOID:0111226 DOID:0080102 congenital fiber-type disproportion myopathy @@ -6469,6 +6473,7 @@ MONDO:0014400 retinitis pigmentosa 70 MONDO:0019200 DOID:0110392 DOID:10584 reti MONDO:0014409 intellectual disability, autosomal recessive 44 MONDO:0019502 DOID:0081208 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0014412 hyperlipoproteinemia, type 1D MONDO:0006025 DOID:0111420 DOID:0050737 autosomal recessive disease MONDO:0014412 hyperlipoproteinemia, type 1D MONDO:0018637 DOID:0111420 DOID:0111417 familial chylomicronemia syndrome +MONDO:0014413 orofaciodigital syndrome type 14 MONDO:0015375 DOID:0060958 DOID:4501 orofaciodigital syndrome MONDO:0014416 ACTH-independent macronodular adrenal hyperplasia 2 MONDO:0009049 DOID:0111624 DOID:0111622 Cushing syndrome due to macronodular adrenal hyperplasia MONDO:0014418 myopathy, centronuclear, 5 MONDO:0015705 DOID:0111222 DOID:0111216 autosomal recessive centronuclear myopathy MONDO:0014427 cone-rod dystrophy 20 MONDO:0015993 DOID:0111026 DOID:0050572 cone-rod dystrophy @@ -6564,6 +6569,7 @@ MONDO:0014650 familial temporal lobe epilepsy 8 MONDO:0005115 DOID:0060754 DOID: MONDO:0014651 acrofacial dysostosis Cincinnati type MONDO:0018237 DOID:0060353 DOID:0060379 acrofacial dysostosis MONDO:0014652 exudative vitreoretinopathy 6 MONDO:0019516 DOID:0111410 DOID:0050535 exudative vitreoretinopathy MONDO:0014653 retinitis pigmentosa 72 MONDO:0019200 DOID:0110395 DOID:10584 retinitis pigmentosa +MONDO:0014654 Ullrich congenital muscular dystrophy 2 MONDO:0000355 DOID:0060948 DOID:0050558 Ullrich congenital muscular dystrophy MONDO:0014657 primary ciliary dyskinesia 32 MONDO:0016575 DOID:0110603 DOID:9562 primary ciliary dyskinesia MONDO:0014658 severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0000426 DOID:0111158 DOID:0050736 autosomal dominant disease MONDO:0014660 microcephaly 15, primary, autosomal recessive MONDO:0016660 DOID:0070277 DOID:0070296 autosomal recessive primary microcephaly @@ -7349,6 +7355,8 @@ MONDO:0026721 mitochondrial complex 1 deficiency, nuclear type 30 MONDO:0100223 MONDO:0026724 Paganini-Miozzo syndrome MONDO:0020119 DOID:0111843 DOID:0060309 X-linked syndromic intellectual disability MONDO:0026726 nephrotic syndrome, type 20 MONDO:0002350 DOID:0070357 DOID:2590 familial nephrotic syndrome MONDO:0026729 congenital disorder of glycosylation, type ICC MONDO:0005500 DOID:0111839 DOID:0050570 congenital disorder of glycosylation type I +MONDO:0026763 holoprosencephaly 13, X-linked MONDO:0016296 DOID:0060954 DOID:4621 holoprosencephaly +MONDO:0026763 holoprosencephaly 13, X-linked MONDO:0020605 DOID:0060954 DOID:0080012 X-linked recessive disease MONDO:0026771 developmental and epileptic encephalopathy, 85, with or without midline brain defects MONDO:0100062 DOID:0070380 DOID:0112202 developmental and epileptic encephalopathy MONDO:0027048 deafness, Y-linked 2 MONDO:0033304 DOID:0111758 DOID:0111757 nonsyndromic deafness, Y-linked MONDO:0027069 mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1 MONDO:0014471 DOID:0111748 DOID:0111143 mitochondrial proton-transporting ATP synthase complex deficiency @@ -7380,9 +7388,11 @@ MONDO:0030054 developmental and epileptic encephalopathy, 86 MONDO:0100062 DOID: MONDO:0030055 neuronopathy, distal hereditary motor, autosomal recessive 8 MONDO:0015363 DOID:0081427 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0030058 hearing loss, autosomal dominant 77 MONDO:0019587 DOID:0112168 DOID:0050564 autosomal dominant nonsyndromic hearing loss MONDO:0030059 developmental and epileptic encephalopathy, 87 MONDO:0100062 DOID:0112221 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0030064 episodic ataxia, type 9 MONDO:0016227 DOID:0060965 DOID:963 hereditary episodic ataxia MONDO:0030066 granulomatous disease, chronic, autosomal recessive, 5 MONDO:0018305 DOID:0070368 DOID:3265 chronic granulomatous disease MONDO:0030067 Treacher Collins syndrome 4 MONDO:0002457 DOID:0080792 DOID:2908 Treacher-Collins syndrome MONDO:0030072 developmental and epileptic encephalopathy, 88 MONDO:0100062 DOID:0112222 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0030105 galactosemia 4 MONDO:0018116 DOID:0060969 DOID:9870 galactosemia MONDO:0030134 oculopharyngodistal myopathy 2 MONDO:0025193 DOID:0081298 DOID:0081296 oculopharyngodistal myopathy MONDO:0030258 pontocerebellar hypoplasia, type 14 MONDO:0020135 DOID:0112325 DOID:0060264 pontocerebellar hypoplasia MONDO:0030259 pontocerebellar hypoplasia, type 15 MONDO:0020135 DOID:0112326 DOID:0060264 pontocerebellar hypoplasia @@ -7408,6 +7418,7 @@ MONDO:0030472 developmental and epileptic encephalopathy 98 MONDO:0100062 DOID:0 MONDO:0030473 developmental and epileptic encephalopathy 99 MONDO:0100062 DOID:0070385 DOID:0112202 developmental and epileptic encephalopathy MONDO:0030492 spermatogenic failure 59 MONDO:0004983 DOID:0112357 DOID:0111910 spermatogenic failure MONDO:0030493 spermatogenic failure 60 MONDO:0004983 DOID:0112355 DOID:0111910 spermatogenic failure +MONDO:0030500 Loeys-Dietz syndrome 6 MONDO:0018954 DOID:0060964 DOID:0050466 Loeys-Dietz syndrome MONDO:0030507 spermatogenic failure 61 MONDO:0004983 DOID:0112350 DOID:0111910 spermatogenic failure MONDO:0030508 spermatogenic failure 62 MONDO:0004983 DOID:0112351 DOID:0111910 spermatogenic failure MONDO:0030514 leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy MONDO:0019046 DOID:0070397 DOID:0060786 leukodystrophy @@ -7770,6 +7781,7 @@ MONDO:0054740 blepharocheilodontic syndrome 1 MONDO:0007339 DOID:0080345 DOID:00 MONDO:0054741 combined oxidative phosphorylation deficiency 34 MONDO:0000732 DOID:0111497 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0054742 combined oxidative phosphorylation deficiency 35 MONDO:0000732 DOID:0111464 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0054752 multiple synostoses syndrome 4 MONDO:0017923 DOID:0081320 DOID:0050794 multiple synostoses syndrome +MONDO:0054770 orofaciodigital syndrome 18 MONDO:0015375 DOID:0060961 DOID:4501 orofaciodigital syndrome MONDO:0054776 epilepsy, familial focal, with variable foci 4 MONDO:0020310 DOID:0081424 DOID:0081420 familial focal epilepsy with variable foci MONDO:0054781 combined oxidative phosphorylation deficiency 36 MONDO:0000732 DOID:0111482 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0054782 leukodystrophy, hypomyelinating, 15 MONDO:0019046 DOID:0070398 DOID:0060786 leukodystrophy @@ -7785,6 +7797,7 @@ MONDO:0054832 corneal dystrophy, posterior polymorphous, 4 MONDO:0020364 DOID:00 MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD MONDO:0000426 DOID:0111558 DOID:0050736 autosomal dominant disease MONDO:0054833 charcot-marie-tooth disease, axonal, type 2DD MONDO:0018993 DOID:0111558 DOID:0050539 Charcot-Marie-Tooth disease type 2 MONDO:0054835 classic dopamine transporter deficiency syndrome MONDO:0700117 DOID:0070489 DOID:0070487 SLC6A3-related dopamine transporter deficiency syndrome +MONDO:0054842 polycystic kidney disease 6 with or without polycystic liver disease MONDO:0004691 DOID:0060951 DOID:898 autosomal dominant polycystic kidney disease MONDO:0054843 ciliary dyskinesia, primary, 38 MONDO:0016575 DOID:0111852 DOID:9562 primary ciliary dyskinesia MONDO:0054845 developmental and epileptic encephalopathy, 66 MONDO:0100062 DOID:0080446 DOID:0112202 developmental and epileptic encephalopathy MONDO:0054846 epilepsy, familial adult myoclonic, 6 MONDO:0000160 DOID:0111696 DOID:0111689 epilepsy, familial adult myoclonic @@ -7859,6 +7872,7 @@ MONDO:0700251 orofacial cleft 7 MONDO:0000358 DOID:0080400 DOID:0050567 orofacia MONDO:0800025 Teebi hypertelorism syndrome 1 MONDO:0030639 DOID:0080698 DOID:0081073 Teebi hypertelorism syndrome MONDO:0800026 central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease MONDO:0001292 DOID:0060731 DOID:11465 autonomic nervous system disorder MONDO:0800027 leukoencephalopathy, diffuse hereditary, with spheroids 1 MONDO:0019046 DOID:0080523 DOID:10579 leukodystrophy +MONDO:0800029 interstitial lung disease 2 MONDO:0002771 DOID:0050156 DOID:3770 pulmonary fibrosis MONDO:0800042 restrictive dermopathy 1 MONDO:0031213 DOID:0070369 DOID:0060762 restrictive dermopathy MONDO:0800044 congenital disorder of deglycosylation 1 MONDO:0019214 DOID:0060728 DOID:2978 inborn carbohydrate metabolic disorder MONDO:0800366 dyskeratosis congenita, autosomal dominant 4 MONDO:0015780 DOID:0070020 DOID:2729 dyskeratosis congenita @@ -8002,12 +8016,14 @@ MONDO:0859245 spinocerebellar ataxia, autosomal recessive 32 MONDO:0015244 DOID: MONDO:0859279 spinal muscular atrophy, distal, autosomal recessive, 6 MONDO:0015363 DOID:0081425 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0859300 neuronopathy, distal hereditary motor, autosomal dominant 10 MONDO:0015362 DOID:0081399 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0859309 spastic paraplegia 88, autosomal dominant MONDO:0019064 DOID:0070457 DOID:2476 hereditary spastic paraplegia +MONDO:0859310 orofaciodigital syndrome 19 MONDO:0015375 DOID:0060960 DOID:4501 orofaciodigital syndrome MONDO:0859314 developmental and epileptic encephalopathy 108 MONDO:0100062 DOID:0070394 DOID:0112202 developmental and epileptic encephalopathy MONDO:0859323 combined oxidative phosphorylation deficiency 56 MONDO:0000732 DOID:0070429 DOID:0060286 combined oxidative phosphorylation deficiency MONDO:0859325 developmental and epileptic encephalopathy 109 MONDO:0100062 DOID:0070378 DOID:0112202 developmental and epileptic encephalopathy MONDO:0859327 developmental and epileptic encephalopathy 110 MONDO:0100062 DOID:0070395 DOID:0112202 developmental and epileptic encephalopathy MONDO:0859335 congenital myopathy 15 MONDO:0019952 DOID:0081347 DOID:0081337 congenital myopathy MONDO:0859337 combined oxidative phosphorylation deficiency 57 MONDO:0000732 DOID:0070430 DOID:0060286 combined oxidative phosphorylation deficiency +MONDO:0859341 hypotrichosis 15 MONDO:0003037 DOID:0060968 DOID:4535 hypotrichosis MONDO:0859360 spinocerebellar ataxia, autosomal recessive 33 MONDO:0015244 DOID:0070414 DOID:0050950 autosomal recessive cerebellar ataxia MONDO:0859362 hyperinsulinemic hypoglycemia, familial, 8 MONDO:0005803 DOID:0081328 DOID:13317 hyperinsulinemic hypoglycemia MONDO:0859363 spastic paraplegia 79A, autosomal dominant, with ataxia MONDO:0019064 DOID:0070455 DOID:2476 hereditary spastic paraplegia @@ -8083,6 +8099,7 @@ MONDO:0957874 neuronopathy, distal hereditary motor, autosomal recessive 9 MONDO MONDO:0957875 neuronopathy, distal hereditary motor, autosomal dominant 11 MONDO:0015362 DOID:0081400 DOID:0111198 neuronopathy, distal hereditary motor, autosomal dominant MONDO:0957876 neuronopathy, distal hereditary motor, autosomal recessive 10 MONDO:0015363 DOID:0081429 DOID:0111197 neuronopathy, distal hereditary motor, autosomal recessive MONDO:0957896 metabolic dysfunction and alcohol associated liver disease MONDO:0004790 DOID:0070508 DOID:9452 fatty liver disease +MONDO:0957921 Cornelia de Lange syndrome 6 MONDO:0016033 DOID:0060970 DOID:11725 Cornelia de Lange syndrome MONDO:0957928 otosclerosis 11 MONDO:0005349 DOID:0060928 DOID:12185 otosclerosis MONDO:0958150 Borrelia miyamotoi disease MONDO:0000314 DOID:0070527 DOID:0050338 primary bacterial infectious disease MONDO:0958151 cepacia syndrome MONDO:0000316 DOID:0070528 DOID:0050340 opportunistic bacterial infectious disease @@ -8096,6 +8113,7 @@ MONDO:0958180 prolonged electroretinal response suppression 1 MONDO:0012033 DOID MONDO:0958184 epidermolytic hyperkeratosis 2 MONDO:0007239 DOID:0081359 DOID:4603 epidermolytic ichthyosis MONDO:0958189 basal cell nevus syndrome 2 MONDO:0007187 DOID:0070366 DOID:2512 nevoid basal cell carcinoma syndrome MONDO:0958190 prolonged electroretinal response suppression 2 MONDO:0012033 DOID:0070364 DOID:0050335 bradyopsia +MONDO:0958230 orofaciodigital syndrome 20 MONDO:0015375 DOID:0060962 DOID:4501 orofaciodigital syndrome MONDO:0958235 Ullrich congenital muscular dystrophy 1B MONDO:0000355 DOID:0060942 DOID:0050558 Ullrich congenital muscular dystrophy MONDO:0958236 Ullrich congenital muscular dystrophy 1C MONDO:0000355 DOID:0060943 DOID:0050558 Ullrich congenital muscular dystrophy MONDO:0958295 BCOR ITD sarcoma MONDO:0958159 DOID:0081403 DOID:0081402 sarcoma with BCOR genetic alterations @@ -8109,6 +8127,7 @@ MONDO:0958302 TFEB-rearranged renal cell carcinoma MONDO:0017886 DOID:0081414 DO MONDO:0958303 childhood renal cell carcinoma with MiT translocations MONDO:0017886 DOID:0081416 DOID:0081413 MIT family translocation renal cell carcinoma MONDO:0968944 intellectual developmental disorder, autosomal recessive 82 MONDO:0019502 DOID:0060947 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0968974 large B-cell lymphoma MONDO:0004095 DOID:0081452 DOID:707 B-cell neoplasm +MONDO:0970945 developmental and epileptic encephalopathy 116 MONDO:0100062 DOID:0070545 DOID:0112202 developmental and epileptic encephalopathy MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0000858 DOID:0080679 DOID:0080072 neuronal intestinal dysplasia MONDO:8000018 benign paroxysmal positional vertigo MONDO:0004900 DOID:13941 DOID:9847 peripheral vertigo MONDO:8000024 autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD MONDO:0017979 DOID:0110119 DOID:6688 autoimmune lymphoproliferative syndrome @@ -16317,8 +16336,6 @@ MONDO:0007548 transient bullous dermolysis of the newborn MONDO:0006543 Orphanet MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa MONDO:0006543 Orphanet:231568 Orphanet:303 epidermolysis bullosa dystrophica MONDO:0007560 reading seizures MONDO:0017768 Orphanet:166433 Orphanet:310 reflex epilepsy MONDO:0007561 multiple epiphyseal dysplasia type 1 MONDO:0016648 Orphanet:93308 Orphanet:251 multiple epiphyseal dysplasia -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type MONDO:0016648 Orphanet:166011 Orphanet:251 multiple epiphyseal dysplasia -MONDO:0007562 multiple epiphyseal dysplasia, Beighton type MONDO:0022800 Orphanet:166011 Orphanet:93421 type 2 collagenopathy MONDO:0007565 familial cylindromatosis MONDO:0011512 Orphanet:211 Orphanet:79493 Brooke-Spiegler syndrome MONDO:0007574 spinocerebellar ataxia type 34 MONDO:0019270 Orphanet:1955 Orphanet:79355 erythrokeratoderma MONDO:0007574 spinocerebellar ataxia type 34 MONDO:0019792 Orphanet:1955 Orphanet:94145 autosomal dominant cerebellar ataxia type I @@ -16339,6 +16356,7 @@ MONDO:0007636 frontorhiny MONDO:0016643 Orphanet:391474 Orphanet:250 frontonasal MONDO:0007648 hereditary diffuse gastric adenocarcinoma MONDO:0018502 Orphanet:26106 Orphanet:423776 hereditary gastric cancer MONDO:0007650 MALT lymphoma MONDO:0017604 Orphanet:52417 Orphanet:300912 marginal zone lymphoma MONDO:0007651 gastrocutaneous syndrome MONDO:0019289 Orphanet:2069 Orphanet:79375 hyperpigmentation of the skin +MONDO:0007671 fibronectin glomerulopathy MONDO:0019722 Orphanet:84090 Orphanet:93548 glomerular disorder MONDO:0007680 multinodular goiter-cystic kidney-polydactyly syndrome MONDO:0015161 Orphanet:2091 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0007681 goiter, multinodular 1, with or without Sertoli-Leydig cell tumors MONDO:0015356 Orphanet:276399 Orphanet:140162 hereditary neoplastic syndrome MONDO:0007686 gray platelet syndrome MONDO:0020117 Orphanet:721 Orphanet:98455 alpha granule disease @@ -16384,7 +16402,6 @@ MONDO:0007874 trichorhinophalangeal syndrome type II MONDO:0016907 Orphanet:502 MONDO:0007874 trichorhinophalangeal syndrome type II MONDO:0017951 Orphanet:502 Orphanet:324764 trichorhinophalangeal syndrome MONDO:0007875 Larsen syndrome MONDO:0019690 Orphanet:503 Orphanet:93425 filamin-related bone disorder MONDO:0007885 Legg-Calve-Perthes disease MONDO:0018381 Orphanet:2380 Orphanet:399319 osteochondrosis -MONDO:0007885 Legg-Calve-Perthes disease MONDO:0022800 Orphanet:2380 Orphanet:93421 type 2 collagenopathy MONDO:0007891 familial generalized lentiginosis MONDO:0019289 Orphanet:231040 Orphanet:79375 hyperpigmentation of the skin MONDO:0007892 Lenz-Majewski hyperostotic dwarfism MONDO:0015159 Orphanet:2658 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007893 Noonan syndrome with multiple lentigines MONDO:0015161 Orphanet:500 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -16452,7 +16469,6 @@ MONDO:0008123 autosomal dominant omodysplasia MONDO:0017136 Orphanet:93328 Orpha MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome MONDO:0015159 Orphanet:2743 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0008133 optic atrophy 3 MONDO:0020250 Orphanet:67036 Orphanet:98672 autosomal dominant optic atrophy MONDO:0008134 autosomal dominant optic atrophy, classic form MONDO:0020250 Orphanet:98673 Orphanet:98672 autosomal dominant optic atrophy -MONDO:0008137 orofaciodigital syndrome X MONDO:0015375 Orphanet:2756 Orphanet:140997 orofaciodigital syndrome MONDO:0008139 OSLAM syndrome MONDO:0019060 Orphanet:2760 Orphanet:68411 bone neoplasm MONDO:0008142 Thiemann disease, familial form MONDO:0018381 Orphanet:3314 Orphanet:399319 osteochondrosis MONDO:0008145 Ollier disease MONDO:0019060 Orphanet:296 Orphanet:68411 bone neoplasm @@ -16464,8 +16480,6 @@ MONDO:0008165 southeast Asian ovalocytosis MONDO:0020102 Orphanet:98868 Orphanet MONDO:0008175 pacman dysplasia MONDO:0019707 Orphanet:1952 Orphanet:93449 primary osteolysis MONDO:0008182 nasopalpebral lipoma-coloboma syndrome MONDO:0015161 Orphanet:2399 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0008195 paramyotonia congenita of Von Eulenburg MONDO:0016120 Orphanet:684 Orphanet:206970 myotonic syndrome -MONDO:0008196 parastremmatic dwarfism MONDO:0018240 Orphanet:2646 Orphanet:364820 TRPV4-related bone disorder -MONDO:0008196 parastremmatic dwarfism MONDO:0019698 Orphanet:2646 Orphanet:93439 bent bone dysplasia MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy MONDO:0016956 Orphanet:99027 Orphanet:262869 partial trisomy of the long arm of chromosome 5 MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy MONDO:0019046 Orphanet:99027 Orphanet:68356 leukodystrophy MONDO:0008221 prolidase deficiency MONDO:0019232 Orphanet:742 Orphanet:79187 inborn disorder of peptide metabolism @@ -16903,7 +16917,6 @@ MONDO:0009480 Joubert syndrome with oculorenal defect MONDO:0015369 Orphanet:231 MONDO:0009483 Kapur-Toriello syndrome MONDO:0015159 Orphanet:2328 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009485 oculocerebrofacial syndrome, Kaufman type MONDO:0015159 Orphanet:2707 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009486 autosomal recessive Kenny-Caffey syndrome MONDO:0016516 Orphanet:93324 Orphanet:2333 Kenny-Caffey syndrome -MONDO:0009490 Papillon-Lefevre disease MONDO:0015978 Orphanet:678 Orphanet:183681 functional neutrophil defect MONDO:0009490 Papillon-Lefevre disease MONDO:0017739 Orphanet:678 Orphanet:309340 disorder of lysosomal-related organelles MONDO:0009491 Haim-Munk syndrome MONDO:0017739 Orphanet:2342 Orphanet:309340 disorder of lysosomal-related organelles MONDO:0009492 succinyl-CoA:3-ketoacid CoA transferase deficiency MONDO:0019229 Orphanet:832 Orphanet:79183 inborn disorder of ketolysis @@ -16916,7 +16929,6 @@ MONDO:0009501 metabolic myopathy due to lactate transporter defect MONDO:0020123 MONDO:0009502 pyruvate dehydrogenase E2 deficiency MONDO:0019169 Orphanet:79244 Orphanet:765 pyruvate dehydrogenase deficiency MONDO:0009503 pyruvate dehydrogenase E3-binding protein deficiency MONDO:0019169 Orphanet:255182 Orphanet:765 pyruvate dehydrogenase deficiency MONDO:0009504 mitochondrial DNA depletion syndrome 9 MONDO:0016796 Orphanet:17 Orphanet:254803 mitochondrial DNA depletion syndrome, encephalomyopathic form -MONDO:0009506 specific granule deficiency MONDO:0015978 Orphanet:169142 Orphanet:183681 functional neutrophil defect MONDO:0009507 Lambert syndrome MONDO:0015159 Orphanet:1296 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009509 Landau-Kleffner syndrome MONDO:0020072 Orphanet:98818 Orphanet:98259 childhood-onset epilepsy syndrome MONDO:0009513 laryngo-onycho-cutaneous syndrome MONDO:0017612 Orphanet:2407 Orphanet:305 junctional epidermolysis bullosa @@ -17011,7 +17023,6 @@ MONDO:0009691 mycosis fungoides MONDO:0015821 Orphanet:2584 Orphanet:178566 myco MONDO:0009692 primary myelofibrosis MONDO:0015610 Orphanet:824 Orphanet:164823 acquired aplastic anemia MONDO:0009692 primary myelofibrosis MONDO:0020076 Orphanet:824 Orphanet:98274 myeloproliferative neoplasm MONDO:0009693 plasma cell myeloma MONDO:0004959 Orphanet:29073 Orphanet:98282 plasma cell neoplasm -MONDO:0009694 myeloperoxidase deficiency MONDO:0015978 Orphanet:2587 Orphanet:183681 functional neutrophil defect MONDO:0009696 juvenile myoclonic epilepsy MONDO:0017704 Orphanet:307 Orphanet:309 familial partial epilepsy MONDO:0009697 Lafora disease MONDO:0020074 Orphanet:501 Orphanet:98261 progressive myoclonus epilepsy MONDO:0009698 Unverricht-Lundborg syndrome MONDO:0020074 Orphanet:308 Orphanet:98261 progressive myoclonus epilepsy @@ -17032,6 +17043,8 @@ MONDO:0009737 galactosialidosis MONDO:0800088 Orphanet:351 Orphanet:93448 lysoso MONDO:0009738 sialidosis type 2 MONDO:0017734 Orphanet:87876 Orphanet:309294 sialidosis MONDO:0009738 sialidosis type 2 MONDO:0800088 Orphanet:87876 Orphanet:93448 lysosomal storage disease with skeletal involvement MONDO:0009740 neurofaciodigitorenal syndrome MONDO:0015159 Orphanet:2673 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability +MONDO:0009744 neuronal ceroid lipofuscinosis 1 MONDO:0016295 Orphanet:228329 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0009745 neuronal ceroid lipofuscinosis 5 MONDO:0016295 Orphanet:228360 Orphanet:216 neuronal ceroid lipofuscinosis MONDO:0009747 mitochondrial DNA depletion syndrome 6 (hepatocerebral type) MONDO:0100512 Orphanet:255229 Orphanet:254871 mitochondrial DNA depletion syndrome, hepatocerebral form MONDO:0009760 Norman-Roberts syndrome MONDO:0015204 Orphanet:89844 Orphanet:1083 microlissencephaly MONDO:0009767 oculocerebral hypopigmentation syndrome, Cross type MONDO:0017305 Orphanet:2719 Orphanet:284811 syndromic oculocutaneous albinism @@ -17043,7 +17056,6 @@ MONDO:0009779 autosomal recessive omodysplasia MONDO:0017136 Orphanet:93329 Orph MONDO:0009780 lethal omphalocele-cleft palate syndrome MONDO:0015159 Orphanet:2736 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0009787 3-methylglutaconic aciduria type 3 MONDO:0017359 Orphanet:67047 Orphanet:289902 3-methylglutaconic aciduria MONDO:0009792 ichthyosis-oral and digital anomalies syndrome MONDO:0015161 Orphanet:2272 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0009793 orofaciodigital syndrome III MONDO:0015375 Orphanet:2752 Orphanet:140997 orofaciodigital syndrome MONDO:0009794 orofaciodigital syndrome IV MONDO:0015375 Orphanet:2753 Orphanet:140997 orofaciodigital syndrome MONDO:0009794 orofaciodigital syndrome IV MONDO:0015929 Orphanet:2753 Orphanet:182108 thoracic malformation MONDO:0009794 orofaciodigital syndrome IV MONDO:0019691 Orphanet:2753 Orphanet:93426 short rib dysplasia @@ -17086,7 +17098,6 @@ MONDO:0009900 polysyndactyly-cardiac malformation syndrome MONDO:0015161 Orphane MONDO:0009901 Bartsocas-Papas syndrome 1 MONDO:0017435 Orphanet:1234 Orphanet:294963 popliteal pterygium syndrome MONDO:0009901 Bartsocas-Papas syndrome 1 MONDO:0019287 Orphanet:1234 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0009901 Bartsocas-Papas syndrome 1 MONDO:0043009 Orphanet:1234 Orphanet:471383 hereditary lethal multiple congenital anomalies/dysmorphic syndrome -MONDO:0009902 cutaneous porphyria MONDO:0019142 Orphanet:79277 Orphanet:738 inherited porphyria MONDO:0009903 postaxial acrofacial dysostosis MONDO:0015161 Orphanet:246 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0009903 postaxial acrofacial dysostosis MONDO:0018237 Orphanet:246 Orphanet:364574 acrofacial dysostosis MONDO:0009904 Gitelman syndrome MONDO:0015962 Orphanet:358 Orphanet:183592 inherited renal tubular disease @@ -17158,7 +17169,6 @@ MONDO:0010088 mucosulfatidosis MONDO:0015327 Orphanet:585 Orphanet:139009 develo MONDO:0010088 mucosulfatidosis MONDO:0019255 Orphanet:585 Orphanet:79225 sphingolipidosis MONDO:0010088 mucosulfatidosis MONDO:0800088 Orphanet:585 Orphanet:93448 lysosomal storage disease with skeletal involvement MONDO:0010089 isolated sulfite oxidase deficiency MONDO:0019358 Orphanet:99731 Orphanet:833 encephalopathy due to sulfite oxidase deficiency -MONDO:0010090 Summitt syndrome MONDO:0015338 Orphanet:3210 Orphanet:139393 syndromic craniosynostosis MONDO:0010092 Filippi syndrome MONDO:0015159 Orphanet:3255 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0010094 spondylocarpotarsal synostosis syndrome MONDO:0019690 Orphanet:3275 Orphanet:93425 filamin-related bone disorder MONDO:0010094 spondylocarpotarsal synostosis syndrome MONDO:0019694 Orphanet:3275 Orphanet:93434 spondylodysplastic dysplasia @@ -17199,8 +17209,6 @@ MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO:0016826 MONDO:0010185 methylmalonic aciduria and homocystinuria type cblD MONDO:0016826 Orphanet:79283 Orphanet:26 methylmalonic aciduria and homocystinuria MONDO:0010188 familial isolated deficiency of vitamin E MONDO:0020044 Orphanet:96 Orphanet:98096 autosomal recessive metabolic cerebellar ataxia MONDO:0010191 von Willebrand disease 3 MONDO:0019565 Orphanet:166096 Orphanet:903 hereditary von Willebrand disease -MONDO:0010193 Weaver syndrome MONDO:0015159 Orphanet:3447 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0010193 Weaver syndrome MONDO:0019716 Orphanet:3447 Orphanet:93460 overgrowth syndrome MONDO:0010196 Werner syndrome MONDO:0015333 Orphanet:902 Orphanet:139033 progeroid syndrome MONDO:0010199 white forelock with malformations MONDO:0015161 Orphanet:2475 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0010200 Wilson disease MONDO:0017762 Orphanet:905 Orphanet:309839 disorder of copper metabolism @@ -17325,7 +17333,6 @@ MONDO:0010621 CHILD syndrome MONDO:0015161 Orphanet:139 Orphanet:102285 multiple MONDO:0010621 CHILD syndrome MONDO:0017269 Orphanet:139 Orphanet:281210 X-linked ichthyosis syndrome MONDO:0010621 CHILD syndrome MONDO:0019240 Orphanet:139 Orphanet:79195 sterol biosynthesis disorder MONDO:0010621 CHILD syndrome MONDO:0019701 Orphanet:139 Orphanet:93442 chondrodysplasia punctata -MONDO:0010627 X-linked lymphoproliferative syndrome MONDO:0016537 Orphanet:2442 Orphanet:238510 lymphoproliferative syndrome MONDO:0010631 incontinentia pigmenti MONDO:0019287 Orphanet:464 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0010641 X-linked diffuse leiomyomatosis-Alport syndrome MONDO:0017007 Orphanet:1018 Orphanet:263756 partial deletion of the long arm of chromosome X MONDO:0010645 oculocerebrorenal syndrome MONDO:0015962 Orphanet:534 Orphanet:183592 inherited renal tubular disease @@ -17358,7 +17365,6 @@ MONDO:0010733 hereditary spastic paraplegia 2 MONDO:0019046 Orphanet:99015 Orpha MONDO:0010735 Kennedy disease MONDO:0024237 Orphanet:481 Orphanet:183500 inherited neurodegenerative disorder MONDO:0010738 spondylometaphyseal dysplasia, Golden type MONDO:0016763 Orphanet:168544 Orphanet:254 spondylometaphyseal dysplasia MONDO:0010742 pentalogy of Cantrell MONDO:0015161 Orphanet:1335 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability -MONDO:0010785 maternally-inherited diabetes and deafness MONDO:0015967 Orphanet:225 Orphanet:183625 monogenic diabetes MONDO:0010788 Leber hereditary optic neuropathy MONDO:0020249 Orphanet:104 Orphanet:98671 hereditary optic neuropathy MONDO:0010801 spondylocamptodactyly syndrome MONDO:0019694 Orphanet:3180 Orphanet:93434 spondylodysplastic dysplasia MONDO:0010805 bladder exstrophy MONDO:0017919 Orphanet:93930 Orphanet:322 exstrophy-epispadias complex @@ -17535,13 +17541,11 @@ MONDO:0011481 craniosynostosis 2 MONDO:0015338 Orphanet:1541 Orphanet:139393 syn MONDO:0011486 congenital muscular dystrophy 1B MONDO:0019950 Orphanet:98893 Orphanet:97242 congenital muscular dystrophy MONDO:0011487 Huntington disease-like 3 MONDO:0015548 Orphanet:157946 Orphanet:158266 Huntington disease-like syndrome MONDO:0011493 Stickler syndrome type 2 MONDO:0019354 Orphanet:90654 Orphanet:828 Stickler syndrome -MONDO:0011496 mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis MONDO:0022800 Orphanet:93279 Orphanet:93421 type 2 collagenopathy MONDO:0011497 hereditary North American Indian childhood cirrhosis MONDO:0015762 Orphanet:168583 Orphanet:172 progressive familial intrahepatic cholestasis MONDO:0011506 familial infantile myoclonic epilepsy MONDO:0015653 Orphanet:352582 Orphanet:166472 monogenic epilepsy MONDO:0011510 Bohring-Opitz syndrome MONDO:0015159 Orphanet:97297 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0011514 tricuspid atresia MONDO:0020289 Orphanet:1209 Orphanet:98721 congenital tricuspid malformation MONDO:0011518 Wiedemann-Steiner syndrome MONDO:0015159 Orphanet:319182 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability -MONDO:0011524 Dianzani autoimmune lymphoproliferative disease MONDO:0016537 Orphanet:275523 Orphanet:238510 lymphoproliferative syndrome MONDO:0011527 Charcot-Marie-Tooth disease type 4E MONDO:0018995 Orphanet:99951 Orphanet:64749 Charcot-Marie-Tooth disease type 4 MONDO:0011529 spinocerebellar ataxia type 13 MONDO:0019792 Orphanet:98768 Orphanet:94145 autosomal dominant cerebellar ataxia type I MONDO:0011534 Charcot-Marie-Tooth disease type 4G MONDO:0018995 Orphanet:99953 Orphanet:64749 Charcot-Marie-Tooth disease type 4 @@ -17571,7 +17575,6 @@ MONDO:0011633 Charcot-Marie-Tooth disease axonal type 2C MONDO:0018993 Orphanet: MONDO:0011638 neuroferritinopathy MONDO:0015548 Orphanet:157846 Orphanet:158266 Huntington disease-like syndrome MONDO:0011638 neuroferritinopathy MONDO:0017763 Orphanet:157846 Orphanet:309842 disorder of iron metabolism and transport MONDO:0011638 neuroferritinopathy MONDO:0018307 Orphanet:157846 Orphanet:385 neurodegeneration with brain iron accumulation -MONDO:0011652 Phelan-McDermid syndrome MONDO:0022760 Orphanet:48652 Orphanet:262182 chromosome 22q deletion MONDO:0011655 alveolar soft part sarcoma MONDO:0018078 Orphanet:163699 Orphanet:3394 soft tissue sarcoma MONDO:0011669 hypotonia-cystinuria syndrome MONDO:0019216 Orphanet:238517 Orphanet:79166 inborn disorder of amino acid transport MONDO:0011670 Ehlers-Danlos syndrome due to tenascin-X deficiency MONDO:0020066 Orphanet:230839 Orphanet:98249 Ehlers-Danlos syndrome @@ -17595,7 +17598,6 @@ MONDO:0011731 glucose-galactose malabsorption MONDO:0019226 Orphanet:35710 Orpha MONDO:0011732 familial digital arthropathy-brachydactyly MONDO:0018240 Orphanet:85169 Orphanet:364820 TRPV4-related bone disorder MONDO:0011738 bilateral frontoparietal polymicrogyria MONDO:0017091 Orphanet:101070 Orphanet:268940 bilateral polymicrogyria MONDO:0011740 Carney-Stratakis syndrome MONDO:0015079 Orphanet:97286 Orphanet:100094 multiple polyglandular tumor -MONDO:0011744 primary intraosseous venous malformation MONDO:0016223 Orphanet:140436 Orphanet:210589 infantile hemangioma of rare localization MONDO:0011758 Hurler syndrome MONDO:0001586 Orphanet:93473 Orphanet:579 mucopolysaccharidosis type 1 MONDO:0011759 Hurler-Scheie syndrome MONDO:0001586 Orphanet:93476 Orphanet:579 mucopolysaccharidosis type 1 MONDO:0011760 Scheie syndrome MONDO:0001586 Orphanet:93474 Orphanet:579 mucopolysaccharidosis type 1 @@ -17613,7 +17615,6 @@ MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome MONDO:0015 MONDO:0011795 anonychia-microcephaly syndrome MONDO:0015161 Orphanet:1094 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0011801 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 MONDO:0020127 Orphanet:94124 Orphanet:98497 hereditary peripheral neuropathy MONDO:0011803 hereditary spastic paraplegia 7 MONDO:0100309 Orphanet:99013 Orphanet:183518 hereditary ataxia -MONDO:0011806 osteofibrous dysplasia MONDO:0018230 Orphanet:488265 Orphanet:364526 skeletal dysplasia MONDO:0011811 autosomal recessive cerebellar ataxia-saccadic intrusion syndrome MONDO:0020047 Orphanet:95434 Orphanet:98099 autosomal recessive syndromic cerebellar ataxia MONDO:0011818 isolated focal cortical dysplasia type II MONDO:0019009 Orphanet:268994 Orphanet:65683 isolated focal cortical dysplasia MONDO:0011819 spinocerebellar ataxia type 19/22 MONDO:0019792 Orphanet:98772 Orphanet:94145 autosomal dominant cerebellar ataxia type I @@ -17663,7 +17664,6 @@ MONDO:0011975 paternal uniparental disomy of chromosome 14 MONDO:0016779 Orphane MONDO:0011976 lipodystrophy-intellectual disability-deafness syndrome MONDO:0020087 Orphanet:50811 Orphanet:98305 hereditary lipodystrophy MONDO:0011977 8q22.1 microdeletion syndrome MONDO:0015161 Orphanet:178303 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0011977 8q22.1 microdeletion syndrome MONDO:0016907 Orphanet:178303 Orphanet:262065 partial deletion of the long arm of chromosome 8 -MONDO:0011988 neutrophil immunodeficiency syndrome MONDO:0015978 Orphanet:183707 Orphanet:183681 functional neutrophil defect MONDO:0011997 Hermansky-Pudlak syndrome 2 MONDO:0019312 Orphanet:183678 Orphanet:79430 Hermansky-Pudlak syndrome MONDO:0012008 Lelis syndrome MONDO:0019287 Orphanet:140936 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0012012 Charcot-Marie-Tooth disease dominant intermediate C MONDO:0019548 Orphanet:100045 Orphanet:90114 autosomal dominant intermediate Charcot-Marie-Tooth disease @@ -17791,6 +17791,7 @@ MONDO:0012552 multiple endocrine neoplasia type 4 MONDO:0017169 Orphanet:276152 MONDO:0012556 DK1-congenital disorder of glycosylation MONDO:0017749 Orphanet:91131 Orphanet:309526 disorder of multiple glycosylation MONDO:0012557 cardiomyopathy-hypotonia-lactic acidosis syndrome MONDO:0016801 Orphanet:91130 Orphanet:254830 mitochondrial substrate carrier disorder MONDO:0012574 Potocki-Lupski syndrome MONDO:0016950 Orphanet:1713 Orphanet:262803 partial duplication of the short arm of chromosome 17 +MONDO:0012588 neuronal ceroid lipofuscinosis 7 MONDO:0016295 Orphanet:228366 Orphanet:216 neuronal ceroid lipofuscinosis MONDO:0012589 Pitt-Hopkins syndrome MONDO:0015159 Orphanet:2896 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0012611 polyhydramnios, megalencephaly, and symptomatic epilepsy MONDO:0015653 Orphanet:500533 Orphanet:166472 monogenic epilepsy MONDO:0012621 deafness-infertility syndrome MONDO:0016913 Orphanet:94064 Orphanet:262119 partial deletion of the long arm of chromosome 15 @@ -17810,6 +17811,8 @@ MONDO:0012669 Legius syndrome MONDO:0019289 Orphanet:137605 Orphanet:79375 hyper MONDO:0012683 pontocerebellar hypoplasia type 6 MONDO:0020135 Orphanet:166073 Orphanet:98523 pontocerebellar hypoplasia MONDO:0012699 autosomal recessive limb-girdle muscular dystrophy type 2M MONDO:0015152 Orphanet:206554 Orphanet:102015 autosomal recessive limb-girdle muscular dystrophy MONDO:0012700 renal tubular acidosis, distal, 4, with hemolytic anemia MONDO:0015827 Orphanet:93610 Orphanet:18 distal renal tubular acidosis +MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0016295 Orphanet:263516 Orphanet:216 neuronal ceroid lipofuscinosis +MONDO:0012721 progressive myoclonic epilepsy type 3 MONDO:0020074 Orphanet:263516 Orphanet:98261 progressive myoclonus epilepsy MONDO:0012725 lipoprotein glomerulopathy MONDO:0015905 Orphanet:329481 Orphanet:181437 syndromic dyslipidemia MONDO:0012750 lethal arthrogryposis-anterior horn cell disease syndrome MONDO:0015168 Orphanet:53696 Orphanet:1037 arthrogryposis multiplex congenita MONDO:0012755 episodic ataxia type 7 MONDO:0016227 Orphanet:209970 Orphanet:211062 hereditary episodic ataxia @@ -17883,7 +17886,6 @@ MONDO:0013058 cystic leukoencephalopathy without megalencephaly MONDO:0019046 Or MONDO:0013060 autosomal recessive Parkinson disease 14 MONDO:0017998 Orphanet:199351 Orphanet:329303 PLA2G6-associated neurodegeneration MONDO:0013061 myofibrillar myopathy 6 MONDO:0018943 Orphanet:199340 Orphanet:593 myofibrillar myopathy MONDO:0013074 encephalocraniocutaneous lipomatosis MONDO:0019296 Orphanet:2396 Orphanet:79382 subcutaneous tissue disorder -MONDO:0013081 lymphoproliferative syndrome 1 MONDO:0016537 Orphanet:538963 Orphanet:238510 lymphoproliferative syndrome MONDO:0013090 chromosome 19q13.11 deletion syndrome MONDO:0015159 Orphanet:217346 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0013090 chromosome 19q13.11 deletion syndrome MONDO:0016917 Orphanet:217346 Orphanet:262155 partial deletion of the long arm of chromosome 19 MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0017313 Orphanet:217382 Orphanet:285657 disorder of folate metabolism and transport @@ -18316,7 +18318,6 @@ MONDO:0015093 sub-cortical nodular heterotopia MONDO:0016292 Orphanet:101029 Orp MONDO:0015094 subependymal nodular heterotopia MONDO:0016292 Orphanet:101030 Orphanet:2149 nodular neuronal heterotopia MONDO:0015097 aortic valve dysplasia MONDO:0017735 Orphanet:101043 Orphanet:3093 congenital aortic valve stenosis MONDO:0015099 unilateral hemispheric polymicrogyria MONDO:0017092 Orphanet:101071 Orphanet:268943 unilateral polymicrogyria -MONDO:0015100 aregenerative anemia MONDO:0019453 Orphanet:101096 Orphanet:86836 myelodysplastic syndrome with multilineage dysplasia MONDO:0015101 Marin-Amat syndrome MONDO:0007946 Orphanet:101104 Orphanet:91412 jaw-winking syndrome MONDO:0015103 pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome MONDO:0020064 Orphanet:101206 Orphanet:982 pulmonary valve agenesis MONDO:0015109 congenital anomaly of the mitral subvalvular apparatus MONDO:0019817 Orphanet:101932 Orphanet:95464 congenital mitral valve insufficiency and/or stenosis @@ -18432,12 +18433,8 @@ MONDO:0015406 cerebrofacial arteriovenous metameric syndrome type 1 MONDO:001540 MONDO:0015407 cerebrofacial arteriovenous metameric syndrome type 3 MONDO:0015405 Orphanet:141199 Orphanet:141189 cerebrofacial arteriovenous metameric syndrome MONDO:0015408 diffuse lymphatic malformation MONDO:0002013 Orphanet:141209 Orphanet:2415 lymphangioma MONDO:0015410 nasal dorsum fistula/cyst MONDO:0015476 Orphanet:141219 Orphanet:155835 cysts and fistulae of the face and oral cavity -MONDO:0015421 orofaciodigital syndrome type 12 MONDO:0015375 Orphanet:141327 Orphanet:140997 orofaciodigital syndrome -MONDO:0015422 orofaciodigital syndrome type 13 MONDO:0015375 Orphanet:141330 Orphanet:140997 orofaciodigital syndrome MONDO:0015427 paroxysmal dyskinesia MONDO:0016058 Orphanet:1431 Orphanet:200037 paroxysmal dystonia MONDO:0015428 choroidal atrophy-alopecia syndrome MONDO:0019287 Orphanet:1433 Orphanet:79373 ectodermal dysplasia syndrome -MONDO:0015445 autosomal dominant coarctation of aorta MONDO:0007345 Orphanet:1455 Orphanet:1457 aorta coarctation -MONDO:0015446 atypical coarctation of aorta MONDO:0007345 Orphanet:1456 Orphanet:1457 aorta coarctation MONDO:0015447 differentiated thyroid carcinoma MONDO:0015075 Orphanet:146 Orphanet:100088 thyroid gland carcinoma MONDO:0015449 criss-cross heart MONDO:0019512 Orphanet:1461 Orphanet:88991 congenital heart malformation MONDO:0015451 univentricular heart MONDO:0019820 Orphanet:1464 Orphanet:95483 univentricular cardiopathy @@ -18805,7 +18802,6 @@ MONDO:0016431 autosomal dominant Charcot-Marie-Tooth disease type 2M MONDO:00189 MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome MONDO:0015159 Orphanet:2282 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016450 autoimmune hemolytic anemia, cold type MONDO:0020108 Orphanet:228312 Orphanet:98375 autoimmune hemolytic anemia MONDO:0016453 foodborne botulism MONDO:0005498 Orphanet:228371 Orphanet:1267 botulism -MONDO:0016456 5q14.3 microdeletion syndrome MONDO:0015159 Orphanet:228384 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0016456 5q14.3 microdeletion syndrome MONDO:0016904 Orphanet:228384 Orphanet:262038 partial deletion of the long arm of chromosome 5 MONDO:0016458 8q12 microduplication syndrome MONDO:0016959 Orphanet:228399 Orphanet:262896 partial duplication of the long arm of chromosome 8 MONDO:0016459 2q23.1 microdeletion syndrome MONDO:0016901 Orphanet:228402 Orphanet:262010 partial deletion of the long arm of chromosome 2 @@ -19132,7 +19128,6 @@ MONDO:0017227 autoimmune pancreatitis type 1 MONDO:0015175 Orphanet:280302 Orpha MONDO:0017228 autoimmune pancreatitis type 2 MONDO:0015175 Orphanet:280315 Orphanet:103919 autoimmune pancreatitis MONDO:0017229 distal monosomy 12p MONDO:0022174 Orphanet:280325 Orphanet:316244 chromosome 12p deletion MONDO:0017230 autosomal semi-dominant severe lipodystrophic laminopathy MONDO:0020088 Orphanet:280365 Orphanet:98306 familial partial lipodystrophy -MONDO:0017231 erythropoietic uroporphyria associated with myeloid malignancy MONDO:0019142 Orphanet:280379 Orphanet:738 inherited porphyria MONDO:0017238 hemoglobinopathy Toms River MONDO:0019050 Orphanet:280615 Orphanet:68364 inherited hemoglobinopathy MONDO:0017242 cutaneous collagenous vasculopathy MONDO:0019293 Orphanet:280779 Orphanet:79379 skin vascular disease MONDO:0017243 bullous diffuse cutaneous mastocytosis MONDO:0019315 Orphanet:280785 Orphanet:79456 diffuse cutaneous mastocytosis @@ -19241,10 +19236,6 @@ MONDO:0017544 zygodactyly type 3 MONDO:0008512 Orphanet:295191 Orphanet:93402 sy MONDO:0017545 zygodactyly type 4 MONDO:0008512 Orphanet:295193 Orphanet:93402 syndactyly type 1 MONDO:0017546 congenital vertical talus, unilateral MONDO:0008652 Orphanet:295201 Orphanet:178382 congenital vertical talus MONDO:0017547 congenital vertical talus, bilateral MONDO:0008652 Orphanet:295203 Orphanet:178382 congenital vertical talus -MONDO:0017552 humero-ulnar synostosis, unilateral MONDO:0019782 Orphanet:295213 Orphanet:94056 humero-ulnar synostosis -MONDO:0017553 humero-ulnar synostosis, bilateral MONDO:0019782 Orphanet:295215 Orphanet:94056 humero-ulnar synostosis -MONDO:0017554 radio-ulnar synostosis, unilateral MONDO:0017985 Orphanet:295217 Orphanet:3269 congenital radioulnar synostosis -MONDO:0017555 radio-ulnar synostosis, bilateral MONDO:0017985 Orphanet:295219 Orphanet:3269 congenital radioulnar synostosis MONDO:0017558 congenital elbow dislocation, unilateral MONDO:0017469 Orphanet:295225 Orphanet:295032 congenital elbow dislocation MONDO:0017559 congenital elbow dislocation, bilateral MONDO:0017469 Orphanet:295227 Orphanet:295032 congenital elbow dislocation MONDO:0017560 congenital genu recurvatum MONDO:0017470 Orphanet:295229 Orphanet:295034 congenital knee dislocation @@ -19254,7 +19245,6 @@ MONDO:0017565 macrodactyly of fingers, bilateral MONDO:0017474 Orphanet:295241 O MONDO:0017566 macrodactyly of toes, unilateral MONDO:0017475 Orphanet:295243 Orphanet:295047 macrodactyly of toes MONDO:0017567 macrodactyly of toes, bilateral MONDO:0017475 Orphanet:295245 Orphanet:295047 macrodactyly of toes MONDO:0017569 de Barsy syndrome MONDO:0019303 Orphanet:2962 Orphanet:79389 premature aging syndrome -MONDO:0017570 leukocyte adhesion deficiency MONDO:0015978 Orphanet:2968 Orphanet:183681 functional neutrophil defect MONDO:0017571 Proteus-like syndrome MONDO:0017623 Orphanet:2969 Orphanet:306498 PTEN hamartoma tumor syndrome MONDO:0017572 tick-borne encephalitis MONDO:0006009 Orphanet:297 Orphanet:98252 viral encephalitis MONDO:0017575 mitochondrial neurogastrointestinal encephalomyopathy MONDO:0009637 Orphanet:298 Orphanet:206966 inborn mitochondrial myopathy @@ -19434,7 +19424,6 @@ MONDO:0017936 benign Samaritan congenital myopathy MONDO:0019952 Orphanet:324581 MONDO:0017937 autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain MONDO:0019548 Orphanet:324585 Orphanet:90114 autosomal dominant intermediate Charcot-Marie-Tooth disease MONDO:0017939 classic multiminicore myopathy MONDO:0018948 Orphanet:324604 Orphanet:598 multiminicore myopathy MONDO:0017940 autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation MONDO:0018993 Orphanet:324611 Orphanet:64746 Charcot-Marie-Tooth disease type 2 -MONDO:0017941 chikungunya MONDO:0018093 Orphanet:324625 Orphanet:344 arbovirus fever MONDO:0017944 invasive non-typhoidal salmonellosis MONDO:0000827 Orphanet:324648 Orphanet:795 salmonellosis MONDO:0017951 trichorhinophalangeal syndrome MONDO:0019287 Orphanet:324764 Orphanet:79373 ectodermal dysplasia syndrome MONDO:0017951 trichorhinophalangeal syndrome MONDO:0019695 Orphanet:324764 Orphanet:93436 acromelic dysplasia @@ -19442,7 +19431,6 @@ MONDO:0017953 hereditary periodic fever syndrome MONDO:0015137 Orphanet:324924 O MONDO:0017972 classic congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0008725 Orphanet:325524 Orphanet:90790 congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0017973 non-classic congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0008725 Orphanet:325529 Orphanet:90790 congenital lipoid adrenal hyperplasia due to STAR deficency MONDO:0017975 sex chromosome disorder of sex development MONDO:0002145 Orphanet:325546 Orphanet:90771 disorder of sexual differentiation -MONDO:0017979 autoimmune lymphoproliferative syndrome MONDO:0016537 Orphanet:3261 Orphanet:238510 lymphoproliferative syndrome MONDO:0017991 Takayasu arteritis MONDO:0015236 Orphanet:99079 Orphanet:1132 aortic arch defects MONDO:0017997 telecanthus-hypertelorism-strabismus-pes cavus syndrome MONDO:0015159 Orphanet:3293 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0017998 PLA2G6-associated neurodegeneration MONDO:0018307 Orphanet:329303 Orphanet:385 neurodegeneration with brain iron accumulation @@ -19950,12 +19938,6 @@ MONDO:0019254 inborn disorder of purine or pyrimidine metabolism MONDO:0019052 O MONDO:0019256 sterol metabolism disorder MONDO:0002525 Orphanet:79226 Orphanet:309005 inherited lipid metabolism disorder MONDO:0019258 mild phenylketonuria MONDO:0009861 Orphanet:79253 Orphanet:716 phenylketonuria MONDO:0019259 classic phenylketonuria MONDO:0009861 Orphanet:79254 Orphanet:716 phenylketonuria -MONDO:0019260 adult neuronal ceroid lipofuscinosis MONDO:0016295 Orphanet:79262 Orphanet:216 neuronal ceroid lipofuscinosis -MONDO:0019260 adult neuronal ceroid lipofuscinosis MONDO:0020143 Orphanet:79262 Orphanet:98544 cerebral lipidosis with dementia -MONDO:0019261 infantile neuronal ceroid lipofuscinosis MONDO:0016295 Orphanet:79263 Orphanet:216 neuronal ceroid lipofuscinosis -MONDO:0019261 infantile neuronal ceroid lipofuscinosis MONDO:0020143 Orphanet:79263 Orphanet:98544 cerebral lipidosis with dementia -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis MONDO:0016295 Orphanet:79264 Orphanet:216 neuronal ceroid lipofuscinosis -MONDO:0019262 juvenile neuronal ceroid lipofuscinosis MONDO:0020143 Orphanet:79264 Orphanet:98544 cerebral lipidosis with dementia MONDO:0019264 alpha-N-acetylgalactosaminidase deficiency type 3 MONDO:0017779 Orphanet:79281 Orphanet:3137 alpha-N-acetylgalactosaminidase deficiency MONDO:0019265 diazoxide-resistant focal hyperinsulinism MONDO:0017186 Orphanet:79298 Orphanet:276585 diazoxide-resistant hyperinsulinism MONDO:0019267 vitamin B12-unresponsive methylmalonic acidemia type mut- MONDO:0009612 Orphanet:79312 Orphanet:27 methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency @@ -20005,6 +19987,7 @@ MONDO:0019388 pelvis syndrome MONDO:0015161 Orphanet:83628 Orphanet:102285 multi MONDO:0019391 Fanconi anemia MONDO:0001713 Orphanet:84 Orphanet:68383 inherited aplastic anemia MONDO:0019391 Fanconi anemia MONDO:0015161 Orphanet:84 Orphanet:102285 multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO:0019393 idiopathic malabsorption due to bile acid synthesis defects MONDO:0019218 Orphanet:84065 Orphanet:79168 inborn disorder of bile acid synthesis +MONDO:0019396 collagen type III glomerulopathy MONDO:0019722 Orphanet:84087 Orphanet:93548 glomerular disorder MONDO:0019398 desmin-related myopathy with Mallory body-like inclusions MONDO:0016112 Orphanet:84132 Orphanet:206662 hereditary inclusion-body myopathy MONDO:0019402 beta thalassemia MONDO:0017145 Orphanet:848 Orphanet:275749 beta-thalassemia and related diseases MONDO:0019404 perineurioma MONDO:0016749 Orphanet:85102 Orphanet:252057 tumor of cranial and spinal nerves @@ -20111,6 +20094,7 @@ MONDO:0019583 localized lichen myxedematosus with mixed features of different su MONDO:0019584 localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms MONDO:0019447 Orphanet:90399 Orphanet:86797 atypical lichen myxedematosus MONDO:0019585 scleromyxedema without monoclonal gammopathy MONDO:0019447 Orphanet:90400 Orphanet:86797 atypical lichen myxedematosus MONDO:0019600 xeroderma pigmentosum MONDO:0015951 Orphanet:910 Orphanet:183490 hereditary photodermatosis +MONDO:0019605 immunotactoid or fibrillary glomerulopathy MONDO:0019722 Orphanet:91137 Orphanet:93548 glomerular disorder MONDO:0019607 unspecified juvenile idiopathic arthritis MONDO:0011429 Orphanet:91140 Orphanet:92 juvenile idiopathic arthritis MONDO:0019609 Zellweger spectrum disorders MONDO:0015327 Orphanet:912 Orphanet:139009 developmental anomaly of metabolic origin MONDO:0019609 Zellweger spectrum disorders MONDO:0019234 Orphanet:912 Orphanet:79189 peroxisome biogenesis disorder @@ -20352,7 +20336,6 @@ MONDO:0020361 partial cryptophthalmia MONDO:0007410 Orphanet:98950 Orphanet:9139 MONDO:0020362 inverse Marcus-Gunn phenomenon MONDO:0007946 Orphanet:98951 Orphanet:91412 jaw-winking syndrome MONDO:0020363 honey-droplet corneal dystrophy MONDO:0020212 Orphanet:98958 Orphanet:98625 superficial corneal dystrophy MONDO:0020364 posterior polymorphous corneal dystrophy MONDO:0020214 Orphanet:98973 Orphanet:98627 posterior corneal dystrophy -MONDO:0020365 congenital hereditary endothelial dystrophy type I MONDO:0020214 Orphanet:98975 Orphanet:98627 posterior corneal dystrophy MONDO:0020369 Chandler syndrome MONDO:0018988 Orphanet:98979 Orphanet:64734 iridocorneal endothelial syndrome MONDO:0020370 Cogan-Reese syndrome MONDO:0018988 Orphanet:98980 Orphanet:64734 iridocorneal endothelial syndrome MONDO:0020371 essential iris atrophy MONDO:0018988 Orphanet:98981 Orphanet:64734 iridocorneal endothelial syndrome @@ -20433,7 +20416,6 @@ MONDO:0020496 familial porencephaly MONDO:0017410 Orphanet:99810 Orphanet:2940 p MONDO:0020497 Turcot syndrome with polyposis MONDO:0021055 Orphanet:99818 Orphanet:733 classic familial adenomatous polyposis MONDO:0020500 Marburg hemorrhagic fever MONDO:0018087 Orphanet:99826 Orphanet:341 viral hemorrhagic fever MONDO:0020501 Crimean-Congo hemorrhagic fever MONDO:0018087 Orphanet:99827 Orphanet:341 viral hemorrhagic fever -MONDO:0020502 yellow fever MONDO:0018093 Orphanet:99829 Orphanet:344 arbovirus fever MONDO:0020505 ravine syndrome MONDO:0019046 Orphanet:99852 Orphanet:68356 leukodystrophy MONDO:0020507 leukoencephalopathy with vanishing white matter 1 MONDO:0800448 Orphanet:99854 Orphanet:135 leukoencephalopathy with vanishing white matter MONDO:0020508 primary syringomyelia MONDO:0017987 Orphanet:99856 Orphanet:3280 syringomyelia @@ -20459,7 +20441,6 @@ MONDO:0020547 chronic graft versus host disease MONDO:0013730 Orphanet:99921 Orp MONDO:0020549 invasive hydatidiform mole MONDO:0018944 Orphanet:99925 Orphanet:59305 gestational trophoblastic neoplasm MONDO:0020550 gestational choriocarcinoma MONDO:0018944 Orphanet:99926 Orphanet:59305 gestational trophoblastic neoplasm MONDO:0020552 placental site trophoblastic tumor MONDO:0018944 Orphanet:99928 Orphanet:59305 gestational trophoblastic neoplasm -MONDO:0020554 Heiner syndrome MONDO:0020553 Orphanet:99932 Orphanet:99930 secondary pulmonary hemosiderosis MONDO:0020555 pleuropulmonary blastoma type 1 MONDO:0011014 Orphanet:99933 Orphanet:64742 pleuropulmonary blastoma MONDO:0020556 pleuropulmonary blastoma type 2 MONDO:0011014 Orphanet:99934 Orphanet:64742 pleuropulmonary blastoma MONDO:0020557 pleuropulmonary blastoma type 3 MONDO:0011014 Orphanet:99935 Orphanet:64742 pleuropulmonary blastoma @@ -20545,7 +20526,6 @@ MONDO:0033948 acquired angioedema with C1Inh deficiency MONDO:0019624 Orphanet:5 MONDO:0033980 RELA fusion-positive ependymoma MONDO:0003266 Orphanet:530792 Orphanet:301 ependymal tumor MONDO:0034021 spondylodysplastic Ehlers-Danlos syndrome MONDO:0020066 Orphanet:536471 Orphanet:98249 Ehlers-Danlos syndrome MONDO:0034022 Bethlem myopathy 2 MONDO:0020066 Orphanet:536516 Orphanet:98249 Ehlers-Danlos syndrome -MONDO:0034054 severe combined immunodeficiency due to CD70 deficiency MONDO:0016537 Orphanet:538958 Orphanet:238510 lymphoproliferative syndrome MONDO:0034099 SYNGAP1-related developmental and epileptic encephalopathy MONDO:0020071 Orphanet:544254 Orphanet:98258 infantile epilepsy syndrome MONDO:0034103 infection-related hemolytic uremic syndrome MONDO:0001549 Orphanet:544482 Orphanet:544458 hemolytic-uremic syndrome MONDO:0034106 developmental and epileptic encephalopathy, 73 MONDO:0015159 Orphanet:544503 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability @@ -20599,8 +20579,6 @@ MONDO:0035663 neuromyelitis optica spectrum disorder with anti-AQP4 antibodies M MONDO:0035664 neuromyelitis optica spectrum disorder with anti-MOG antibodies MONDO:0019100 Orphanet:592856 Orphanet:71211 neuromyelitis optica MONDO:0035665 neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies MONDO:0019100 Orphanet:592869 Orphanet:71211 neuromyelitis optica MONDO:0035666 acute transverse myelitis with anti-MOG antibodies MONDO:0015342 Orphanet:592873 Orphanet:139417 acute transverse myelitis -MONDO:0035667 isolated optic neuritis without anti-MOG antibodies MONDO:0044688 Orphanet:592885 Orphanet:499096 isolated optic neuritis -MONDO:0035668 isolated optic neuritis with anti-MOG antibodies MONDO:0044688 Orphanet:592888 Orphanet:499096 isolated optic neuritis MONDO:0035669 acute disseminated encephalomyelitis with anti-MOG antibodies MONDO:0019383 Orphanet:592894 Orphanet:83597 acute disseminated encephalomyelitis MONDO:0035670 acute disseminated encephalomyelitis without anti-MOG antibodies MONDO:0019383 Orphanet:592900 Orphanet:83597 acute disseminated encephalomyelitis MONDO:0035696 incomplete septal cirrhosis MONDO:0035357 Orphanet:596941 Orphanet:596937 portosinusoidal vascular disease @@ -20655,7 +20633,6 @@ MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spina MONDO:0044656 epidermolytic nevus MONDO:0017266 Orphanet:497737 Orphanet:281103 keratinopathic ichthyosis MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 MONDO:0018993 Orphanet:497757 Orphanet:64746 Charcot-Marie-Tooth disease type 2 MONDO:0044682 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome MONDO:0015168 Orphanet:498693 Orphanet:1037 arthrogryposis multiplex congenita -MONDO:0044687 chronic relapsing inflammatory optic neuropathy MONDO:0044685 Orphanet:499085 Orphanet:499047 autoimmune/inflammatory optic neuropathy MONDO:0044688 isolated optic neuritis MONDO:0044685 Orphanet:499096 Orphanet:499047 autoimmune/inflammatory optic neuropathy MONDO:0044689 recurrent idiopathic neuroretinitis MONDO:0044685 Orphanet:499103 Orphanet:499047 autoimmune/inflammatory optic neuropathy MONDO:0044690 optic perineuritis MONDO:0044685 Orphanet:499107 Orphanet:499047 autoimmune/inflammatory optic neuropathy @@ -20715,7 +20692,6 @@ MONDO:0800043 Stüve-Wiedemann syndrome 1 MONDO:0019698 Orphanet:3206 Orphanet:9 MONDO:0800448 leukoencephalopathy with vanishing white matter MONDO:0019046 Orphanet:135 Orphanet:68356 leukodystrophy MONDO:0800449 lysosomal acid lipase deficiency MONDO:0015905 Orphanet:275761 Orphanet:181437 syndromic dyslipidemia MONDO:0800449 lysosomal acid lipase deficiency MONDO:0019245 Orphanet:275761 Orphanet:79204 lysosomal lipid storage disorder -MONDO:0850001 congenital neuronal ceroid lipofuscinosis MONDO:0016295 Orphanet:168486 Orphanet:216 neuronal ceroid lipofuscinosis MONDO:0850064 inherited hematologic cancer-predisposing syndrome MONDO:0015356 Orphanet:619340 Orphanet:140162 hereditary neoplastic syndrome MONDO:0850072 non-syndromic unisutural craniosynostosis MONDO:0015337 Orphanet:620096 Orphanet:139390 isolated craniosynostosis MONDO:0850097 autoimmune limbic encephalitis MONDO:0020640 Orphanet:623615 Orphanet:622014 autoimmune encephalitis diff --git a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv index 73a6164e..82dab0f1 100644 --- a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv +++ b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv @@ -5015,7 +5015,7 @@ MONDO:0005072 MONDO:0006316 True neuroblastoma neuroblastic tumor UNSUPPORTED-MI MONDO:0005074 MONDO:0002512 True papillary cystadenocarcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005074 MONDO:0005596 True papillary cystadenocarcinoma cystadenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005074 MONDO:0006349 True papillary cystadenocarcinoma papillary cystic neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005075 MONDO:0002512 True thyroid gland papillary carcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005075 MONDO:0002512 True thyroid gland papillary carcinoma papillary adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005075 MONDO:0015447 True thyroid gland papillary carcinoma differentiated thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005075 MONDO:0024622 True thyroid gland papillary carcinoma thyroid gland adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005076 MONDO:0002635 True periodontitis periodontal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -6410,7 +6410,6 @@ MONDO:0006882 MONDO:0002329 True orchitis testicular disorder UNSUPPORTED-MISSIN MONDO:0006883 MONDO:0008903 True malignant superior sulcus neoplasm lung cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006883 MONDO:0024813 True malignant superior sulcus neoplasm pulmonary sulcus neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006884 MONDO:0004863 True panophthalmitis purulent endophthalmitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006886 MONDO:0005075 True thyroid gland papillary and follicular carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006887 MONDO:0000922 True parametritis pelvic inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006889 MONDO:0006904 True paraphimosis phimosis UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006890 MONDO:0004972 True parathyroid gland adenoma adenoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -6834,7 +6833,6 @@ MONDO:0007478 MONDO:0000426 True autosomal dominant Kenny-Caffey syndrome autoso MONDO:0007478 MONDO:0016516 True autosomal dominant Kenny-Caffey syndrome Kenny-Caffey syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0007481 MONDO:0005516 True Leri-Weill dyschondrosteosis osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007481 MONDO:0018230 True Leri-Weill dyschondrosteosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007482 MONDO:0018230 True dyschondrosteosis-nephritis syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007483 MONDO:0000118 True dyschromatosis symmetrica hereditaria reticulate pigment disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007483 MONDO:0019289 True dyschromatosis symmetrica hereditaria hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007485 MONDO:0015780 True dyskeratosis congenita, autosomal dominant 1 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -6885,8 +6883,6 @@ MONDO:0007558 MONDO:0015650 True benign occipital epilepsy epilepsy syndrome UNS MONDO:0007559 MONDO:0015643 True photoparoxysmal response 1 photosensitive epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007560 MONDO:0017768 True reading seizures reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007561 MONDO:0016648 True multiple epiphyseal dysplasia type 1 multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0007562 MONDO:0016648 True multiple epiphyseal dysplasia, Beighton type multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0007562 MONDO:0022800 True multiple epiphyseal dysplasia, Beighton type type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007564 MONDO:0003413 True pilomatrixoma hair follicle neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007565 MONDO:0011512 True familial cylindromatosis Brooke-Spiegler syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0007568 MONDO:0019625 True aortic aneurysm, familial thoracic 4 familial thoracic aortic aneurysm and aortic dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -7086,7 +7082,6 @@ MONDO:0007875 MONDO:0019755 True Larsen syndrome developmental defect during emb MONDO:0007878 MONDO:0004382 True congenital laryngomalacia laryngeal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007881 MONDO:0005486 True tooth agenesis, selective, 4 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007885 MONDO:0018381 True Legg-Calve-Perthes disease osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007885 MONDO:0022800 True Legg-Calve-Perthes disease type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007886 MONDO:0001572 True uterine corpus leiomyoma leiomyoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007886 MONDO:0021525 True uterine corpus leiomyoma benign neoplasm of corpus uteri UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007888 MONDO:0015356 True hereditary leiomyomatosis and renal cell cancer hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -7264,7 +7259,7 @@ MONDO:0008133 MONDO:0020250 True optic atrophy 3 autosomal dominant optic atroph MONDO:0008134 MONDO:0016387 True autosomal dominant optic atrophy, classic form mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008134 MONDO:0020250 True autosomal dominant optic atrophy, classic form autosomal dominant optic atrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008135 MONDO:0043878 True optic atrophy 13 with retinal and foveal abnormalities hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0008137 MONDO:0015375 True orofaciodigital syndrome X orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0008137 MONDO:0015375 True orofaciodigital syndrome X orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0008139 MONDO:0019054 True OSLAM syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008139 MONDO:0019060 True OSLAM syndrome bone neoplasm UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008142 MONDO:0018381 True Thiemann disease, familial form osteochondrosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -7300,8 +7295,6 @@ MONDO:0008183 MONDO:0002356 True annular pancreas pancreas disorder UNSUPPORTED- MONDO:0008187 MONDO:0031240 True panic disorder 1 familial panic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008192 MONDO:0000448 True paragangliomas 1 paraganglioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008195 MONDO:0016120 True paramyotonia congenita of Von Eulenburg myotonic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008196 MONDO:0018240 True parastremmatic dwarfism TRPV4-related bone disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008196 MONDO:0019698 True parastremmatic dwarfism bent bone dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008197 MONDO:0018953 True parietal foramina 1 parietal foramina UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008198 MONDO:0018230 True parietal foramina with cleidocranial dysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008199 MONDO:0005180 True late-onset Parkinson disease Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -7329,8 +7322,6 @@ MONDO:0008228 MONDO:0006873 True pernicious anemia nutritional deficiency diseas MONDO:0008231 MONDO:0016037 True Peyronie disease superficial Fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008234 MONDO:0000426 True multiple endocrine neoplasia type 2A autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008234 MONDO:0019003 True multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2 UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008237 MONDO:0018234 True phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0008237 MONDO:0019054 True phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008243 MONDO:0017276 True Pick disease frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008244 MONDO:0000426 True piebaldism autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008244 MONDO:0019290 True piebaldism hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -7823,6 +7814,7 @@ MONDO:0008910 MONDO:0003847 True carboxypeptidase N deficiency hereditary diseas MONDO:0008913 MONDO:0031323 True cardiac valvular defect, developmental cardiac valvular defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0008917 MONDO:0015161 True heart defects-limb shortening syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008918 MONDO:0017716 True carnitine-acylcarnitine translocase deficiency disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008919 MONDO:0004736 True systemic primary carnitine deficiency disease inborn disorder of amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0008919 MONDO:0017716 True systemic primary carnitine deficiency disease disorder of carnitine cycle and carnitine transport UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008922 MONDO:0016801 True Sengers syndrome mitochondrial substrate carrier disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008922 MONDO:0018117 True Sengers syndrome disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -7960,7 +7952,6 @@ MONDO:0009101 MONDO:0003847 True Wolfram syndrome 1 hereditary disease UNSUPPORT MONDO:0009101 MONDO:0018105 True Wolfram syndrome 1 Wolfram syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009103 MONDO:0005711 True diaphragmatic hernia 2 congenital diaphragmatic hernia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009104 MONDO:0006025 True Donnai-Barrow syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009105 MONDO:0003778 True trichohepatoenteric syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009105 MONDO:0957408 True trichohepatoenteric syndrome type 1 interferonopathy of childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009106 MONDO:0018075 True diastematomyelia neural tube defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009107 MONDO:0005516 True diastrophic dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -8271,7 +8262,6 @@ MONDO:0009501 MONDO:0020123 True metabolic myopathy due to lactate transporter d MONDO:0009502 MONDO:0019169 True pyruvate dehydrogenase E2 deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009503 MONDO:0019169 True pyruvate dehydrogenase E3-binding protein deficiency pyruvate dehydrogenase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009504 MONDO:0016796 True mitochondrial DNA depletion syndrome 9 mitochondrial DNA depletion syndrome, encephalomyopathic form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009506 MONDO:0015978 True specific granule deficiency functional neutrophil defect UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009507 MONDO:0015159 True Lambert syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009509 MONDO:0000414 True Landau-Kleffner syndrome childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009509 MONDO:0020072 True Landau-Kleffner syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8351,7 +8341,6 @@ MONDO:0009588 MONDO:0018230 True Langer mesomelic dysplasia skeletal dysplasia U MONDO:0009589 MONDO:0015161 True mesomelic dwarfism-cleft palate-camptodactyly syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009589 MONDO:0018230 True mesomelic dwarfism-cleft palate-camptodactyly syndrome skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009591 MONDO:0018868 True metachromatic leukodystrophy, juvenile form metachromatic leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009592 MONDO:0018230 True metaphyseal acroscyphodysplasia skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009593 MONDO:0016763 True spondylometaphyseal dysplasia, Sedaghatian type spondylometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009594 MONDO:0018230 True metaphyseal chondrodysplasia, Kaitila type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009595 MONDO:0006025 True cartilage-hair hypoplasia autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -8387,7 +8376,7 @@ MONDO:0009630 MONDO:0000170 True microphthalmia, isolated, with coloboma 4 micro MONDO:0009631 MONDO:0000062 True isolated microphthalmia 1 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009636 MONDO:0019236 True mitochondrial DNA depletion syndrome 3 (hepatocerebral type) inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009636 MONDO:0100512 True mitochondrial DNA depletion syndrome 3 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009642 MONDO:0015375 True orofaciodigital syndrome type II orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0009642 MONDO:0015375 True orofaciodigital syndrome type II orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009643 MONDO:0020480 True sulfite oxidase deficiency due to molybdenum cofactor deficiency type A sulfite oxidase deficiency due to molybdenum cofactor deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009644 MONDO:0020480 True sulfite oxidase deficiency due to molybdenum cofactor deficiency type B sulfite oxidase deficiency due to molybdenum cofactor deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009646 MONDO:0044645 True monosomy 7 myelodysplasia and leukemia syndrome 1 familial monosomy 7 syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -8486,8 +8475,8 @@ MONDO:0009738 MONDO:0017734 True sialidosis type 2 sialidosis UNSUPPORTED-MISSIN MONDO:0009738 MONDO:0031422 True sialidosis type 2 familial mucolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009738 MONDO:0800088 True sialidosis type 2 lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009740 MONDO:0015159 True neurofaciodigitorenal syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009744 MONDO:0016295 True neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0009745 MONDO:0016295 True neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009744 MONDO:0016295 True neuronal ceroid lipofuscinosis 1 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009745 MONDO:0016295 True neuronal ceroid lipofuscinosis 5 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009746 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 4 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009747 MONDO:0100512 True mitochondrial DNA depletion syndrome 6 (hepatocerebral type) mitochondrial DNA depletion syndrome, hepatocerebral form UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009748 MONDO:0015150 True hereditary sensory and autonomic neuropathy with spastic paraplegia complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8518,7 +8507,7 @@ MONDO:0009786 MONDO:0043878 True optic atrophy 6 hereditary optic atrophy UNSUPP MONDO:0009787 MONDO:0017359 True 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009792 MONDO:0015161 True ichthyosis-oral and digital anomalies syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009792 MONDO:0015947 True ichthyosis-oral and digital anomalies syndrome inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009793 MONDO:0015375 True orofaciodigital syndrome III orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0009793 MONDO:0015375 True orofaciodigital syndrome III orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009794 MONDO:0015375 True orofaciodigital syndrome IV orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009794 MONDO:0015929 True orofaciodigital syndrome IV thoracic malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009794 MONDO:0019691 True orofaciodigital syndrome IV short rib dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8755,7 +8744,6 @@ MONDO:0010088 MONDO:0015327 True mucosulfatidosis developmental anomaly of metab MONDO:0010088 MONDO:0019255 True mucosulfatidosis sphingolipidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010088 MONDO:0800088 True mucosulfatidosis lysosomal storage disease with skeletal involvement UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010089 MONDO:0019358 True isolated sulfite oxidase deficiency encephalopathy due to sulfite oxidase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010090 MONDO:0015338 True Summitt syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010091 MONDO:0015526 True Cold-induced sweating syndrome 1 cold-induced sweating syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010092 MONDO:0015159 True Filippi syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010094 MONDO:0005497 True spondylocarpotarsal synostosis syndrome bone development disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -8874,7 +8862,7 @@ MONDO:0010221 MONDO:0017748 True CHIME syndrome inborn disorder of glycosphingol MONDO:0010221 MONDO:0019287 True CHIME syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010224 MONDO:0002254 True corpus callosum agenesis-abnormal genitalia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010224 MONDO:0003847 True corpus callosum agenesis-abnormal genitalia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010225 MONDO:0015612 True Dent disease type 1 Dent disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0010225 MONDO:0015612 True Dent disease type 1 Dent disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010226 MONDO:0010765 True 46,XY sex reversal 2 46,XY complete gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010227 MONDO:0019200 True retinitis pigmentosa 3 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010228 MONDO:0019586 True hearing loss, X-linked 3 X-linked nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -8987,7 +8975,7 @@ MONDO:0010355 MONDO:0015159 True syndromic X-linked intellectual disability Clae MONDO:0010355 MONDO:0020119 True syndromic X-linked intellectual disability Claes-Jensen type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010356 MONDO:0015962 True nephrogenic syndrome of inappropriate antidiuresis inherited renal tubular disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010358 MONDO:0020605 True hypophosphatemic rickets, X-linked recessive X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010359 MONDO:0015612 True Dent disease type 2 Dent disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0010359 MONDO:0015612 True Dent disease type 2 Dent disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010361 MONDO:0019181 True intellectual disability, X-linked 30 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010362 MONDO:0002412 True glycogen storage disease IXd disorder of glycogen metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010363 MONDO:0019181 True intellectual disability, X-linked 91 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -9241,7 +9229,7 @@ MONDO:0010622 MONDO:0020605 True recessive X-linked ichthyosis X-linked recessiv MONDO:0010626 MONDO:0000425 True hyper-IgM syndrome type 1 X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010626 MONDO:0003947 True hyper-IgM syndrome type 1 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010627 MONDO:0000425 True X-linked lymphoproliferative syndrome X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0010627 MONDO:0016537 True X-linked lymphoproliferative syndrome lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010627 MONDO:0016537 True X-linked lymphoproliferative syndrome lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010631 MONDO:0019287 True incontinentia pigmenti ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010632 MONDO:0100062 True developmental and epileptic encephalopathy, 1 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010637 MONDO:0000136 True keratosis follicularis spinulosa decalvans, X-linked keratosis follicularis spinulosa decalvans UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -9333,8 +9321,6 @@ MONDO:0010772 MONDO:0020478 True Leber optic atrophy and dystonia Leber plus dis MONDO:0010775 MONDO:0019501 True retinitis pigmentosa-deafness syndrome Usher syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0010779 MONDO:0016387 True mitochondrial non-syndromic sensorineural hearing loss mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010782 MONDO:0000863 True myopathy, lactic acidosis, and sideroblastic anemia 3 myopathy, lactic acidosis, and sideroblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED -MONDO:0010785 MONDO:0015967 True maternally-inherited diabetes and deafness monogenic diabetes UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010785 MONDO:0016387 True maternally-inherited diabetes and deafness mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010786 MONDO:0016387 True chronic diarrhea with villous atrophy mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010787 MONDO:0005181 True Kearns-Sayre syndrome progressive external ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010787 MONDO:0016333 True Kearns-Sayre syndrome familial dilated cardiomyopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -9576,7 +9562,7 @@ MONDO:0011121 MONDO:0000448 True paragangliomas 2 paraganglioma UNSUPPORTED-MISS MONDO:0011122 MONDO:0003916 True obesity disorder overnutrition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011125 MONDO:0002470 True trichothiodystrophy 1, photosensitive photosensitive trichothiodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011128 MONDO:0019942 True Sheldon-hall syndrome distal arthrogryposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011132 MONDO:0015974 True T-cell immunodeficiency, congenital alopecia, and nail dystrophy severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0011132 MONDO:0015974 True T-cell immunodeficiency, congenital alopecia, and nail dystrophy severe combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011133 MONDO:0019290 True deaf blind hypopigmentation syndrome, Yemenite type hypopigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011134 MONDO:0015338 True Curry-Jones syndrome syndromic craniosynostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011136 MONDO:0000009 True Quebec platelet disorder inherited bleeding disorder, platelet-type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -9822,7 +9808,6 @@ MONDO:0011487 MONDO:0015548 True Huntington disease-like 3 Huntington disease-li MONDO:0011488 MONDO:0016660 True microcephaly 3, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011489 MONDO:0015149 True hereditary spastic paraplegia 12 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011493 MONDO:0019354 True Stickler syndrome type 2 Stickler syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011496 MONDO:0022800 True mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis type 2 collagenopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011497 MONDO:0015762 True hereditary North American Indian childhood cirrhosis progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011500 MONDO:0019755 True Becker nevus syndrome developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011502 MONDO:0003847 True Wolfram syndrome 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -9838,7 +9823,6 @@ MONDO:0011519 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 23 MONDO:0011521 MONDO:0005265 True inflammatory bowel disease 7 inflammatory bowel disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011522 MONDO:0019064 True hereditary spastic paraplegia 14 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011523 MONDO:0015229 True Bardet-Biedl syndrome 6 Bardet-Biedl syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011524 MONDO:0016537 True Dianzani autoimmune lymphoproliferative disease lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011527 MONDO:0018995 True Charcot-Marie-Tooth disease type 4E Charcot-Marie-Tooth disease type 4 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011527 MONDO:0033352 True Charcot-Marie-Tooth disease type 4E neuropathy, congenital hypomelinating UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011528 MONDO:0003947 True hyper-IgM syndrome type 2 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -9932,7 +9916,6 @@ MONDO:0011640 MONDO:0015159 True genitopatellar syndrome multiple congenital ano MONDO:0011640 MONDO:0018234 True genitopatellar syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011644 MONDO:0004674 True pars planitis chorioretinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011652 MONDO:0003847 True Phelan-McDermid syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0011652 MONDO:0022760 True Phelan-McDermid syndrome chromosome 22q deletion UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011655 MONDO:0018078 True alveolar soft part sarcoma soft tissue sarcoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011656 MONDO:0005382 True paget disease of bone 4 bone Paget disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011657 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 24 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -9991,7 +9974,6 @@ MONDO:0011732 MONDO:0019054 True familial digital arthropathy-brachydactyly cong MONDO:0011735 MONDO:0003947 True hyper-IgM syndrome type 3 hyper-IgM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011738 MONDO:0017091 True bilateral frontoparietal polymicrogyria bilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011740 MONDO:0015079 True Carney-Stratakis syndrome multiple polyglandular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011744 MONDO:0016223 True primary intraosseous venous malformation infantile hemangioma of rare localization UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011748 MONDO:0010168 True Usher syndrome type 1G Usher syndrome type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011752 MONDO:0019005 True nephronophthisis 4 nephronophthisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011755 MONDO:0017842 True senior-loken syndrome 3 Senior-Loken syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -10095,7 +10077,6 @@ MONDO:0011868 MONDO:0015161 True lethal congenital contracture syndrome 2 multip MONDO:0011868 MONDO:0017436 True lethal congenital contracture syndrome 2 lethal congenital contracture syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011871 MONDO:0017014 True Niemann-Pick disease type B interstitial lung disease specific to childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011871 MONDO:0020127 True Niemann-Pick disease type B hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011872 MONDO:0015134 True Griscelli syndrome type 2 constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011872 MONDO:0018306 True Griscelli syndrome type 2 Griscelli syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011874 MONDO:0015947 True neonatal ichthyosis-sclerosing cholangitis syndrome inherited ichthyosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011874 MONDO:0018646 True neonatal ichthyosis-sclerosing cholangitis syndrome sclerosing cholangitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10260,8 +10241,6 @@ MONDO:0012090 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 47 MONDO:0012091 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 32 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012092 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 5 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012095 MONDO:0015159 True intellectual disability-brachydactyly-Pierre Robin syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012095 MONDO:0018234 True intellectual disability-brachydactyly-Pierre Robin syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012095 MONDO:0019054 True intellectual disability-brachydactyly-Pierre Robin syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012096 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012098 MONDO:0019792 True spinocerebellar ataxia type 20 autosomal dominant cerebellar ataxia type I UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012099 MONDO:0019236 True AICA-ribosiduria inborn disorder of purine metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10620,7 +10599,7 @@ MONDO:0012576 MONDO:0019037 True supranuclear palsy, progressive, 3 progressive MONDO:0012578 MONDO:0020836 True autism, susceptibility to, 13 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012582 MONDO:0012580 True interstitial lung disease due to ABCA3 deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012583 MONDO:0005486 True tooth agenesis, selective, 5 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012588 MONDO:0016295 True neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0012588 MONDO:0016295 True neuronal ceroid lipofuscinosis 7 neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012589 MONDO:0002254 True Pitt-Hopkins syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012589 MONDO:0003847 True Pitt-Hopkins syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012589 MONDO:0015159 True Pitt-Hopkins syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10993,7 +10972,7 @@ MONDO:0013074 MONDO:0006574 True encephalocraniocutaneous lipomatosis lipomatosi MONDO:0013074 MONDO:0019296 True encephalocraniocutaneous lipomatosis subcutaneous tissue disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013079 MONDO:0005388 True primary biliary cholangitis 2 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013080 MONDO:0005388 True primary biliary cholangitis 3 primary biliary cholangitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0013081 MONDO:0016537 True lymphoproliferative syndrome 1 lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0013081 MONDO:0016537 True lymphoproliferative syndrome 1 lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013090 MONDO:0015159 True chromosome 19q13.11 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013090 MONDO:0016917 True chromosome 19q13.11 deletion syndrome partial deletion of the long arm of chromosome 19 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013092 MONDO:0100242 True glioma susceptibility 2 glioma susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -11371,7 +11350,6 @@ MONDO:0013534 MONDO:0019052 True apolipoprotein c-III deficiency inborn errors o MONDO:0013536 MONDO:0017754 True heme oxygenase 1 deficiency inborn disorder of porphyrin metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013537 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 29 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013539 MONDO:0019052 True hypotonia-failure to thrive-microcephaly syndrome inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013540 MONDO:0005570 True deafness-lymphedema-leukemia syndrome hematologic disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013541 MONDO:0000904 True complex cortical dysplasia with other brain malformations 1 complex cortical dysplasia with other brain malformations UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013542 MONDO:0016820 True Moyamoya disease 5 Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013544 MONDO:0018054 True atrial fibrillation, familial, 11 familial atrial fibrillation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -12105,7 +12083,7 @@ MONDO:0014412 MONDO:0001336 True hyperlipoproteinemia, type 1D familial hyperlip MONDO:0014412 MONDO:0006025 True hyperlipoproteinemia, type 1D autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014412 MONDO:0018637 True hyperlipoproteinemia, type 1D familial chylomicronemia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014413 MONDO:0015159 True orofaciodigital syndrome type 14 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014413 MONDO:0015375 True orofaciodigital syndrome type 14 orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0014413 MONDO:0015375 True orofaciodigital syndrome type 14 orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014414 MONDO:0000213 True STAT3-related early-onset multisystem autoimmune disease autoimmune disease, multisystem, infantile-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014416 MONDO:0009049 True ACTH-independent macronodular adrenal hyperplasia 2 Cushing syndrome due to macronodular adrenal hyperplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014417 MONDO:0018117 True spinocerebellar ataxia type 38 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -12242,6 +12220,7 @@ MONDO:0014557 MONDO:0044807 True ataxia - oculomotor apraxia type 4 inherited dy MONDO:0014558 MONDO:0015159 True autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014561 MONDO:0017359 True 3-methylglutaconic aciduria, type VIIB 3-methylglutaconic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014562 MONDO:0018151 True neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome coenzyme Q10 deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014563 MONDO:0003847 True mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014564 MONDO:0018841 True congenital bile acid synthesis defect 5 congenital bile acid synthesis defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014566 MONDO:0018993 True Charcot-Marie-Tooth disease axonal type 2U Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014567 MONDO:0015150 True glutamate pyruvate transaminase 2 deficiency complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -12329,7 +12308,7 @@ MONDO:0014650 MONDO:0005115 True familial temporal lobe epilepsy 8 temporal lobe MONDO:0014651 MONDO:0018237 True acrofacial dysostosis Cincinnati type acrofacial dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014652 MONDO:0019516 True exudative vitreoretinopathy 6 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014653 MONDO:0019200 True retinitis pigmentosa 72 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0014654 MONDO:0000355 True Ullrich congenital muscular dystrophy 2 Ullrich congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS +MONDO:0014654 MONDO:0000355 True Ullrich congenital muscular dystrophy 2 Ullrich congenital muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014656 MONDO:0000090 True progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 progressive external ophthalmoplegia with mitochondrial DNA deletions UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014657 MONDO:0016575 True primary ciliary dyskinesia 32 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014658 MONDO:0000426 True severe achondroplasia-developmental delay-acanthosis nigricans syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -12569,6 +12548,7 @@ MONDO:0014929 MONDO:0019200 True retinitis pigmentosa 76 retinitis pigmentosa UN MONDO:0014930 MONDO:0019502 True intellectual disability, autosomal recessive 56 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014932 MONDO:0015375 True orofaciodigital syndrome XV orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014935 MONDO:0015942 True frontometaphyseal dysplasia 2 frontometaphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0014936 MONDO:0003847 True ZTTK syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0014936 MONDO:0015159 True ZTTK syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014937 MONDO:0007119 True aniridia 2 isolated aniridia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014938 MONDO:0007119 True aniridia 3 isolated aniridia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -12697,7 +12677,6 @@ MONDO:0015093 MONDO:0016292 True sub-cortical nodular heterotopia nodular neuron MONDO:0015094 MONDO:0016292 True subependymal nodular heterotopia nodular neuronal heterotopia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015097 MONDO:0017735 True aortic valve dysplasia congenital aortic valve stenosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015099 MONDO:0017092 True unilateral hemispheric polymicrogyria unilateral polymicrogyria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015100 MONDO:0019453 True aregenerative anemia myelodysplastic syndrome with multilineage dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015101 MONDO:0007946 True Marin-Amat syndrome jaw-winking syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015103 MONDO:0020064 True pulmonary valve agenesis-tetralogy of fallot-absence of ductus arteriosus syndrome pulmonary valve agenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015104 MONDO:0002520 True porphyria cutanea tarda hepatic porphyria UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -12867,14 +12846,10 @@ MONDO:0015413 MONDO:0015411 True median cleft of the upper lip and maxilla facia MONDO:0015416 MONDO:0015411 True Tessier number 5 facial cleft facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015417 MONDO:0015411 True Tessier number 6 facial cleft facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015419 MONDO:0015411 True midline cervical cleft facial cleft UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015421 MONDO:0015375 True orofaciodigital syndrome type 12 orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015422 MONDO:0015375 True orofaciodigital syndrome type 13 orofaciodigital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015426 MONDO:0005516 True Desbuquois dysplasia osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0015426 MONDO:0019755 True Desbuquois dysplasia developmental defect during embryogenesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015427 MONDO:0016058 True paroxysmal dyskinesia paroxysmal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015428 MONDO:0019287 True choroidal atrophy-alopecia syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015445 MONDO:0007345 True autosomal dominant coarctation of aorta aorta coarctation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015446 MONDO:0007345 True atypical coarctation of aorta aorta coarctation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015447 MONDO:0015075 True differentiated thyroid carcinoma thyroid gland carcinoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0015449 MONDO:0019512 True criss-cross heart congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015450 MONDO:0019512 True triatrial heart congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -13002,9 +12977,7 @@ MONDO:0015664 MONDO:0020292 True idiopathic pulmonary artery dilatation congenit MONDO:0015665 MONDO:0018432 True scleromyxedema lichen myxedematosus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015666 MONDO:0019512 True familial idiopathic dilatation of the right atrium congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015667 MONDO:0018874 True acute myeloid leukemia by FAB classification acute myeloid leukemia UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015674 MONDO:0002561 True late infantile neuronal ceroid lipofuscinosis lysosomal storage disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015677 MONDO:0019512 True cardiac diverticulum congenital heart malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015678 MONDO:0018230 True dysplasia of head of femur, Meyer type skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015681 MONDO:0000594 True childhood disintegrative disorder pervasive developmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0015687 MONDO:0001014 True chronic eosinophilic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0015687 MONDO:0020076 True chronic eosinophilic leukemia myeloproliferative neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -13485,7 +13458,7 @@ MONDO:0016532 MONDO:0020072 True Lennox-Gastaut syndrome childhood-onset epileps MONDO:0016533 MONDO:0007099 True apolipoprotein A-II amyloidosis familial visceral amyloidosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016534 MONDO:0019835 True infundibulo-neurohypophysitis primary hypophysitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016535 MONDO:0019287 True hypohidrotic ectodermal dysplasia ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016537 MONDO:0003778 True lymphoproliferative syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0016537 MONDO:0003778 True lymphoproliferative syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0016539 MONDO:0011669 True atypical hypotonia-cystinuria syndrome hypotonia-cystinuria syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016540 MONDO:0020115 True congenital secondary polycythemia secondary polycythemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016541 MONDO:0020115 True acquired secondary polycythemia secondary polycythemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14074,10 +14047,6 @@ MONDO:0017544 MONDO:0008512 True zygodactyly type 3 syndactyly type 1 UNSUPPORTE MONDO:0017545 MONDO:0008512 True zygodactyly type 4 syndactyly type 1 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017546 MONDO:0008652 True congenital vertical talus, unilateral congenital vertical talus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017547 MONDO:0008652 True congenital vertical talus, bilateral congenital vertical talus UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017552 MONDO:0019782 True humero-ulnar synostosis, unilateral humero-ulnar synostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017553 MONDO:0019782 True humero-ulnar synostosis, bilateral humero-ulnar synostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017554 MONDO:0017985 True radio-ulnar synostosis, unilateral congenital radioulnar synostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017555 MONDO:0017985 True radio-ulnar synostosis, bilateral congenital radioulnar synostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017558 MONDO:0017469 True congenital elbow dislocation, unilateral congenital elbow dislocation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017559 MONDO:0017469 True congenital elbow dislocation, bilateral congenital elbow dislocation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017560 MONDO:0017470 True congenital genu recurvatum congenital knee dislocation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14329,7 +14298,6 @@ MONDO:0017936 MONDO:0019952 True benign Samaritan congenital myopathy congenital MONDO:0017937 MONDO:0019548 True autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017939 MONDO:0018948 True classic multiminicore myopathy multiminicore myopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017940 MONDO:0018993 True autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation Charcot-Marie-Tooth disease type 2 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017941 MONDO:0018093 True chikungunya arbovirus fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017944 MONDO:0000827 True invasive non-typhoidal salmonellosis salmonellosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017951 MONDO:0019287 True trichorhinophalangeal syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0017951 MONDO:0019695 True trichorhinophalangeal syndrome acromelic dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -14341,7 +14309,6 @@ MONDO:0017972 MONDO:0008725 True classic congenital lipoid adrenal hyperplasia d MONDO:0017973 MONDO:0008725 True non-classic congenital lipoid adrenal hyperplasia due to STAR deficency congenital lipoid adrenal hyperplasia due to STAR deficency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017975 MONDO:0002145 True sex chromosome disorder of sex development disorder of sexual differentiation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017979 MONDO:0002459 True autoimmune lymphoproliferative syndrome type IV hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0017979 MONDO:0016537 True autoimmune lymphoproliferative syndrome lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017980 MONDO:0018234 True syngnathia multiple anomalies dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017987 MONDO:0002545 True syringomyelia spinal cord disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0017990 MONDO:0000992 True catecholaminergic polymorphic ventricular tachycardia heart conduction disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -14900,7 +14867,6 @@ MONDO:0018857 MONDO:0020568 True creeping myiasis cutaneous myiasis UNSUPPORTED- MONDO:0018858 MONDO:0004907 True Graham Little-Piccardi-Lassueur syndrome alopecia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018861 MONDO:0016387 True Zellweger-like syndrome without peroxisomal anomalies mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018865 MONDO:0017672 True striate palmoplantar keratoderma focal palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018866 MONDO:0003778 True Aicardi-Goutieres syndrome inborn error of immunity UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018866 MONDO:0019046 True Aicardi-Goutieres syndrome leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0018866 MONDO:0957408 True Aicardi-Goutieres syndrome type 1 interferonopathy of childhood UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018868 MONDO:0015547 True metachromatic leukodystrophy hereditary dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15200,12 +15166,6 @@ MONDO:0019256 MONDO:0002525 True sterol metabolism disorder inherited lipid meta MONDO:0019257 MONDO:0006507 True hemochromatosis type 2 hereditary hemochromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0019258 MONDO:0009861 True mild phenylketonuria phenylketonuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019259 MONDO:0009861 True classic phenylketonuria phenylketonuria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019260 MONDO:0016295 True adult neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019260 MONDO:0020143 True adult neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019261 MONDO:0016295 True infantile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019261 MONDO:0020143 True infantile neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019262 MONDO:0016295 True juvenile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019262 MONDO:0020143 True juvenile neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019264 MONDO:0017779 True alpha-N-acetylgalactosaminidase deficiency type 3 alpha-N-acetylgalactosaminidase deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0019265 MONDO:0017186 True diazoxide-resistant focal hyperinsulinism diazoxide-resistant hyperinsulinism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019266 MONDO:0019751 True SAPHO syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15303,7 +15263,6 @@ MONDO:0019407 MONDO:0005497 True microcephalic osteodysplastic dysplasia, Saul-W MONDO:0019408 MONDO:0019701 True Astley-Kendall dysplasia chondrodysplasia punctata UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019409 MONDO:0005298 True idiopathic juvenile osteoporosis osteoporosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED MONDO:0019412 MONDO:0018230 True dysspondyloenchondromatosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019413 MONDO:0018234 True ischio-vertebral syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019416 MONDO:0015159 True X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019418 MONDO:0015159 True X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019420 MONDO:0015159 True X-linked intellectual disability, Pai type multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15770,7 +15729,6 @@ MONDO:0020361 MONDO:0007410 True partial cryptophthalmia isolated cryptophthalmi MONDO:0020362 MONDO:0007946 True inverse Marcus-Gunn phenomenon jaw-winking syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020363 MONDO:0020212 True honey-droplet corneal dystrophy superficial corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020364 MONDO:0020214 True posterior polymorphous corneal dystrophy posterior corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020365 MONDO:0020214 True congenital hereditary endothelial dystrophy type I posterior corneal dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020367 MONDO:0005338 True juvenile open angle glaucoma open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0020367 MONDO:0018174 True juvenile open angle glaucoma hereditary glaucoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020369 MONDO:0018102 True Chandler syndrome corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -15859,7 +15817,6 @@ MONDO:0020463 MONDO:0020161 True isolated congenital ectropion congenital ectrop MONDO:0020466 MONDO:0019499 True monosomy X Turner syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020470 MONDO:0015161 True 49,XYYYY syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020472 MONDO:0019499 True Turner syndrome due to structural X chromosome anomalies Turner syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020474 MONDO:0018230 True cheirospondyloenchondromatosis skeletal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020475 MONDO:0019287 True dermotrichic syndrome ectodermal dysplasia syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020476 MONDO:0017704 True mesial temporal lobe epilepsy with hippocampal sclerosis familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020478 MONDO:0016387 True Leber plus disease mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15876,7 +15833,6 @@ MONDO:0020496 MONDO:0017410 True familial porencephaly porencephaly UNSUPPORTED- MONDO:0020497 MONDO:0021055 True Turcot syndrome with polyposis classic familial adenomatous polyposis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020500 MONDO:0018087 True Marburg hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020501 MONDO:0018087 True Crimean-Congo hemorrhagic fever viral hemorrhagic fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020502 MONDO:0018093 True yellow fever arbovirus fever UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020504 MONDO:0019052 True hereditary recurrent myoglobinuria inborn errors of metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020505 MONDO:0019046 True ravine syndrome leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020507 MONDO:0800448 True leukoencephalopathy with vanishing white matter 1 leukoencephalopathy with vanishing white matter UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -15920,7 +15876,6 @@ MONDO:0020550 MONDO:0018944 True gestational choriocarcinoma gestational trophob MONDO:0020552 MONDO:0005207 True placental site trophoblastic tumor choriocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0020552 MONDO:0018944 True placental site trophoblastic tumor gestational trophoblastic neoplasm UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020553 MONDO:0015925 True secondary pulmonary hemosiderosis interstitial lung disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020554 MONDO:0020553 True Heiner syndrome secondary pulmonary hemosiderosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020555 MONDO:0011014 True pleuropulmonary blastoma type 1 pleuropulmonary blastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020556 MONDO:0011014 True pleuropulmonary blastoma type 2 pleuropulmonary blastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020557 MONDO:0011014 True pleuropulmonary blastoma type 3 pleuropulmonary blastoma UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -16882,7 +16837,8 @@ MONDO:0026731 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 8 hypo MONDO:0026732 MONDO:0000045 True hypothyroidism, congenital, nongoitrous, 9 hypothyroidism, congenital, nongoitrous UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0026733 MONDO:0020119 True intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0026762 MONDO:0025445 True Wieacker-Wolff syndrome, female-restricted Wieacker-Wolff syndrome (spectrum) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0026763 MONDO:0016296 True holoprosencephaly 13, X-linked holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0026763 MONDO:0016296 True holoprosencephaly 13, X-linked holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0026763 MONDO:0020605 True holoprosencephaly 13, X-linked X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0026765 MONDO:0005501 True congenital disorder of glycosylation, type IIr congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0026767 MONDO:0021094 True immunodeficiency 74, COVID-19-related, X-linked immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0026771 MONDO:0100062 True developmental and epileptic encephalopathy, 85, with or without midline brain defects developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -16940,7 +16896,7 @@ MONDO:0030058 MONDO:0019587 True hearing loss, autosomal dominant 77 autosomal d MONDO:0030059 MONDO:0100062 True developmental and epileptic encephalopathy, 87 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030061 MONDO:0020341 True periventricular nodular heterotopia 9 periventricular nodular heterotopia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030062 MONDO:0016342 True arrhythmogenic right ventricular dysplasia, familial, 14 familial isolated arrhythmogenic right ventricular dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030064 MONDO:0016227 True episodic ataxia, type 9 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030064 MONDO:0016227 True episodic ataxia, type 9 hereditary episodic ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030066 MONDO:0018305 True granulomatous disease, chronic, autosomal recessive, 5 chronic granulomatous disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030067 MONDO:0002457 True Treacher Collins syndrome 4 Treacher-Collins syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030069 MONDO:0018037 True hyper-IgE recurrent infection syndrome 5, autosomal recessive hyper-IgE syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -16952,7 +16908,7 @@ MONDO:0030077 MONDO:0020831 True vertebral, cardiac, renal, and limb defects syn MONDO:0030087 MONDO:0100164 True diabetes mellitus, permanent neonatal 2 permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030088 MONDO:0100164 True diabetes mellitus, permanent neonatal 3 permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030089 MONDO:0100164 True diabetes mellitus, permanent neonatal 4 permanent neonatal diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030105 MONDO:0018116 True galactosemia 4 galactosemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030105 MONDO:0018116 True galactosemia 4 galactosemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030116 MONDO:0008394 True silver-russell syndrome 2 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030118 MONDO:0008394 True silver-russell syndrome 4 Silver-Russell syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030134 MONDO:0025193 True oculopharyngodistal myopathy 2 oculopharyngodistal myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -17044,7 +17000,7 @@ MONDO:0030491 MONDO:0021094 True immunodeficiency 91 and hyperinflammation immun MONDO:0030492 MONDO:0004983 True spermatogenic failure 59 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030493 MONDO:0004983 True spermatogenic failure 60 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030498 MONDO:0021094 True immunodeficiency 92 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030500 MONDO:0018954 True Loeys-Dietz syndrome 6 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0030500 MONDO:0018954 True Loeys-Dietz syndrome 6 Loeys-Dietz syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030503 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 7, with or without hearing loss progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030505 MONDO:0015762 True cholestasis, progressive familial intrahepatic, 8 progressive familial intrahepatic cholestasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030506 MONDO:0009299 True ovarian dysgenesis 9 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -17258,7 +17214,7 @@ MONDO:0031055 MONDO:0100062 True developmental and epileptic encephalopathy 107 MONDO:0031057 MONDO:0015780 True dyskeratosis congenita, digenic dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031060 MONDO:0016660 True microcephaly 29, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031061 MONDO:0002350 True nephrotic syndrome, IIa 26 familial nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0031062 MONDO:0020642 True polycystic kidney disease 7 polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0031062 MONDO:0020642 True polycystic kidney disease 7 polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0031068 MONDO:0015626 True Charcot-Marie-Tooth disease, axonal, IIa 2II Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031071 MONDO:0015253 True Diamond-Blackfan anemia 21 Diamond-Blackfan anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0031077 MONDO:0004983 True spermatogenic failure 76 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -17638,7 +17594,7 @@ MONDO:0033980 MONDO:0003266 True RELA fusion-positive ependymoma ependymal tumor MONDO:0034021 MONDO:0020066 True spondylodysplastic Ehlers-Danlos syndrome Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034022 MONDO:0008029 True Bethlem myopathy 2 Bethlem myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0034022 MONDO:0020066 True Bethlem myopathy 2 Ehlers-Danlos syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0034054 MONDO:0016537 True severe combined immunodeficiency due to CD70 deficiency lymphoproliferative syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0034054 MONDO:0016537 True severe combined immunodeficiency due to CD70 deficiency lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0034092 MONDO:0020127 True optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034099 MONDO:0020071 True SYNGAP1-related developmental and epileptic encephalopathy infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0034103 MONDO:0001549 True infection-related hemolytic uremic syndrome hemolytic-uremic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17720,8 +17676,6 @@ MONDO:0035663 MONDO:0019100 True neuromyelitis optica spectrum disorder with ant MONDO:0035664 MONDO:0019100 True neuromyelitis optica spectrum disorder with anti-MOG antibodies neuromyelitis optica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035665 MONDO:0019100 True neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies neuromyelitis optica UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035666 MONDO:0015342 True acute transverse myelitis with anti-MOG antibodies acute transverse myelitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035667 MONDO:0044688 True isolated optic neuritis without anti-MOG antibodies isolated optic neuritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0035668 MONDO:0044688 True isolated optic neuritis with anti-MOG antibodies isolated optic neuritis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035669 MONDO:0019383 True acute disseminated encephalomyelitis with anti-MOG antibodies acute disseminated encephalomyelitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035670 MONDO:0019383 True acute disseminated encephalomyelitis without anti-MOG antibodies acute disseminated encephalomyelitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035694 MONDO:0015131 True combined immunodeficiency due to RELA haploinsufficiency combined immunodeficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18082,7 +18036,7 @@ MONDO:0054761 MONDO:0016660 True microcephaly 20, primary, autosomal recessive a MONDO:0054763 MONDO:0018307 True neurodegeneration with brain iron accumulation 7 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054764 MONDO:0018307 True neurodegeneration with brain iron accumulation 8 neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054765 MONDO:0007101 True amyloidosis, primary localized cutaneous, 3 familial primary localized cutaneous amyloidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0054770 MONDO:0015375 True orofaciodigital syndrome 18 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054770 MONDO:0015375 True orofaciodigital syndrome 18 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054771 MONDO:0015486 True keratoconus 9 keratoconus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054776 MONDO:0020310 True epilepsy, familial focal, with variable foci 4 familial focal epilepsy with variable foci UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054781 MONDO:0000732 True combined oxidative phosphorylation deficiency 36 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -18105,6 +18059,7 @@ MONDO:0054833 MONDO:0018993 True charcot-marie-tooth disease, axonal, type 2DD C MONDO:0054835 MONDO:0013150 True classic dopamine transporter deficiency syndrome parkinsonism-dystonia, infantile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054835 MONDO:0700117 True classic dopamine transporter deficiency syndrome SLC6A3-related dopamine transporter deficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0054838 MONDO:0024573 True cardiomyopathy, familial hypertrophic 27 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0054842 MONDO:0004691 True polycystic kidney disease 6 with or without polycystic liver disease autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0054843 MONDO:0016575 True ciliary dyskinesia, primary, 38 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054844 MONDO:0020135 True pontocerebellar hypoplasia, type 1D pontocerebellar hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054845 MONDO:0100062 True developmental and epileptic encephalopathy, 66 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -18324,6 +18279,7 @@ MONDO:0800027 MONDO:0019046 True leukoencephalopathy, diffuse hereditary, with s MONDO:0800027 MONDO:0030796 True leukoencephalopathy, diffuse hereditary, with spheroids 1 leukoencephalopathy, hereditary diffuse, with spheroids UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800028 MONDO:0031115 True dyskinesia with orofacial involvement, autosomal dominant dyskinesia with orofacial involvement UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800029 MONDO:0002429 True interstitial lung disease 2 idiopathic interstitial pneumonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0800029 MONDO:0002771 True interstitial lung disease 2 pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0800029 MONDO:0031199 True interstitial lung disease 2 inherited interstitial lung disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800030 MONDO:0030831 True gastrointestinal defects and immunodeficiency syndrome 1 gastrointestinal defect and immunodeficiency syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800042 MONDO:0031213 True restrictive dermopathy 1 restrictive dermopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -18351,7 +18307,6 @@ MONDO:0800449 MONDO:0019245 True lysosomal acid lipase deficiency lysosomal lipi MONDO:0800452 MONDO:0800451 True congenital amegakaryocytic thrombocytopenia 1 congenital amegakaryocytic thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0800453 MONDO:0850093 True juvenile absence epilepsy absence epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0800455 MONDO:0800444 True Birt-Hogg-Dube syndrome 2 Birt-Hogg-Dube syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0850001 MONDO:0016295 True congenital neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850053 MONDO:0019751 True F12-associated cold autoinflammatory syndrome autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850064 MONDO:0015356 True inherited hematologic cancer-predisposing syndrome hereditary neoplastic syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850065 MONDO:0019751 True neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 autoinflammatory syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18530,7 +18485,7 @@ MONDO:0859280 MONDO:0003847 True developmental delay, hypotonia, and impaired la MONDO:0859300 MONDO:0015362 True neuronopathy, distal hereditary motor, autosomal dominant 10 neuronopathy, distal hereditary motor, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859308 MONDO:0019200 True retinitis pigmentosa 95 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859309 MONDO:0019064 True spastic paraplegia 88, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0859310 MONDO:0015375 True orofaciodigital syndrome 19 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859310 MONDO:0015375 True orofaciodigital syndrome 19 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859311 MONDO:0015626 True Charcot-Marie-Tooth disease, demyelinating, type 1J Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859314 MONDO:0100062 True developmental and epileptic encephalopathy 108 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859319 MONDO:0015780 True dyskeratosis congenita, autosomal recessive 8 dyskeratosis congenita UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -18550,7 +18505,7 @@ MONDO:0859337 MONDO:0000732 True combined oxidative phosphorylation deficiency 5 MONDO:0859338 MONDO:0004983 True spermatogenic failure 78 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859339 MONDO:0005486 True tooth agenesis, selective, 10 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859340 MONDO:0020380 True spinocerebellar ataxia 27B, late-onset autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0859341 MONDO:0003037 True hypotrichosis 15 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0859341 MONDO:0003037 True hypotrichosis 15 hypotrichosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0859342 MONDO:0016660 True microcephaly 30, primary, autosomal recessive autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859346 MONDO:0000141 True mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition mosaic variegated aneuploidy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0859352 MONDO:0004983 True spermatogenic failure 79 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -18758,7 +18713,7 @@ MONDO:0957875 MONDO:0015362 True neuronopathy, distal hereditary motor, autosoma MONDO:0957876 MONDO:0015363 True neuronopathy, distal hereditary motor, autosomal recessive 10 neuronopathy, distal hereditary motor, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957896 MONDO:0004790 True metabolic dysfunction and alcohol associated liver disease fatty liver disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0957920 MONDO:0021094 True immunodeficiency 113 with autoimmunity and autoinflammation immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0957921 MONDO:0016033 True Cornelia de Lange syndrome 6 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0957921 MONDO:0016033 True Cornelia de Lange syndrome 6 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957922 MONDO:0016575 True ciliary dyskinesia, primary, 52 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957928 MONDO:0005349 True otosclerosis 11 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957935 MONDO:0043878 True optic atrophy 15 hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -18851,7 +18806,7 @@ MONDO:0958203 MONDO:0100172 True intellectual developmental disorder, autosomal MONDO:0958204 MONDO:0019502 True intellectual developmental disorder, autosomal recessive 81 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0958206 MONDO:0004983 True spermatogenic failure 89 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0958228 MONDO:0019588 True hearing loss, autosomal recessive 122 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0958230 MONDO:0015375 True orofaciodigital syndrome 20 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0958230 MONDO:0015375 True orofaciodigital syndrome 20 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0958232 MONDO:0019587 True hearing loss, autosomal dominant 90 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0958233 MONDO:0008029 True Bethlem myopathy 1B Bethlem myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0958234 MONDO:0008029 True Bethlem myopathy 1C Bethlem myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -18912,7 +18867,7 @@ MONDO:0968989 MONDO:0958345 True non-saccular limited dorsal myeloschisis limite MONDO:0968990 MONDO:0958356 True genetic central precocious puberty in male primary central precocious puberty in male UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0968991 MONDO:0958356 True non-genetic central precocious puberty in male primary central precocious puberty in male UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0970943 MONDO:0004983 True spermatogenic failure, x-linked, 8 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0970945 MONDO:0100062 True developmental and epileptic encephalopathy 116 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0970945 MONDO:0100062 True developmental and epileptic encephalopathy 116 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0970950 MONDO:0010002 True Rothmund-Thomson syndrome, type 4 Rothmund-Thomson syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0970952 MONDO:0004983 True spermatogenic failure 91 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0970957 MONDO:0968987 True terminal extramedullary conus spinal cord lipoma extramedullary conus spinal cord lipoma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18944,7 +18899,6 @@ MONDO:0971013 MONDO:0008855 True MHC class II deficiency 2 MHC class II deficien MONDO:0971014 MONDO:0008855 True MHC class II deficiency 3 MHC class II deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0971015 MONDO:0008855 True MHC class II deficiency 4 MHC class II deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0971016 MONDO:0008855 True MHC class II deficiency 5 MHC class II deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:8000006 MONDO:0015134 True WHIM syndrome 1 constitutional neutropenia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000006 MONDO:0023880 True WHIM syndrome 1 WHIM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:8000008 MONDO:0015159 True Martsolf syndrome 1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000008 MONDO:0015770 True Martsolf syndrome 1 congenital hypogonadotropic hypogonadism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20709,6 +20663,7 @@ MONDO:0005110 MONDO:0004994 False idiopathic cardiomyopathy cardiomyopathy UNSUP MONDO:0005110 MONDO:0700007 False idiopathic cardiomyopathy idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005111 MONDO:0100329 False Epstein-Barr virus infection primary viral infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005114 MONDO:0021680 False pneumococcal infection streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005115 MONDO:0100030 False temporal lobe epilepsy adolescent/adult-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005116 MONDO:0005113 False Whipple disease bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005116 MONDO:0043424 False Whipple disease digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005118 MONDO:0004805 False human granulocytic ehrlichiosis leukocyte disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -21554,8 +21509,8 @@ MONDO:0006512 MONDO:0006116 False estrogen-receptor positive breast cancer breas MONDO:0006513 MONDO:0006116 False estrogen-receptor negative breast cancer breast carcinoma by gene expression profile UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006515 MONDO:0020683 False acute pancreatitis acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006520 MONDO:0002254 False Achenbach syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006525 MONDO:0004980 False allergic contact dermatitis atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0006526 MONDO:0004980 False allergic urticaria atopic eczema UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006525 MONDO:0004980 False allergic contact dermatitis atopic eczema UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006526 MONDO:0004980 False allergic urticaria atopic eczema UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006528 MONDO:0024295 False bacterial exanthem skin disease caused by bacterial infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006536 MONDO:0020087 False congenital generalized lipodystrophy hereditary lipodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006537 MONDO:0001331 False conjunctival pigmentation conjunctival deposit UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -21734,6 +21689,7 @@ MONDO:0006881 MONDO:0005230 False orbital cellulitis cellulitis UNSUPPORTED-MISS MONDO:0006882 MONDO:0021166 False orchitis inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006884 MONDO:0001718 False panophthalmitis scleritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006886 MONDO:0005034 False thyroid gland papillary and follicular carcinoma thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006886 MONDO:0005075 False thyroid gland papillary and follicular carcinoma thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006887 MONDO:0002654 False parametritis uterine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006887 MONDO:0043786 False parametritis serositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006887 MONDO:0045043 False parametritis disorder of uterine broad ligament UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22186,6 +22142,7 @@ MONDO:0007476 MONDO:0016037 False familial Dupuytren contracture superficial Fib MONDO:0007479 MONDO:0003847 False dwarfism, Levi type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007480 MONDO:0003847 False dwarfism with stiff joints and ocular abnormalities hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007482 MONDO:0002254 False dyschondrosteosis-nephritis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007482 MONDO:0018230 False dyschondrosteosis-nephritis syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007483 MONDO:0700261 False dyschromatosis symmetrica hereditaria ADAR-related type 1 interferonopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007485 MONDO:0100137 False dyskeratosis congenita, autosomal dominant 1 telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007486 MONDO:0002254 False hereditary benign intraepithelial dyskeratosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22242,6 +22199,8 @@ MONDO:0007546 MONDO:0019452 False myeloproliferative disorder, chronic, with eos MONDO:0007546 MONDO:0023603 False myeloproliferative disorder, chronic, with eosinophilia hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007547 MONDO:0003847 False epidermoid cysts hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007553 MONDO:0003847 False epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007562 MONDO:0016648 False multiple epiphyseal dysplasia, Beighton type multiple epiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0007562 MONDO:0022800 False multiple epiphyseal dysplasia, Beighton type type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007566 MONDO:0015356 False multiple self-healing squamous epithelioma hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007569 MONDO:0003847 False erythema nodosum, familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007570 MONDO:0005093 False erythema palmare hereditarium skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22485,6 +22444,7 @@ MONDO:0007882 MONDO:0003847 False lattice degeneration of retina leading to reti MONDO:0007883 MONDO:0003847 False periodic fever, immunodeficiency, and thrombocytopenia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007884 MONDO:0003847 False leg ulcers, familial, of juvenile onset hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007885 MONDO:0018383 False Legg-Calve-Perthes disease osteonecrosis of genetic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007885 MONDO:1030002 False Legg-Calve-Perthes disease dysplasia of the proximal femoral epiphyses UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007886 MONDO:0005167 False uterine corpus leiomyoma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007886 MONDO:0023603 False uterine corpus leiomyoma hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007887 MONDO:0010641 False leiomyoma of vulva and esophagus X-linked diffuse leiomyomatosis-Alport syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -22746,6 +22706,8 @@ MONDO:0008193 MONDO:0009830 False paralysis agitans, juvenile, of Hunt parkinson MONDO:0008194 MONDO:0003847 False Paramolar tubercle of bolk hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008195 MONDO:0700223 False paramyotonia congenita of Von Eulenburg hereditary skeletal muscle disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008195 MONDO:0800468 False paramyotonia congenita of Von Eulenburg SCN4A-related channelopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008196 MONDO:0018240 False parastremmatic dwarfism TRPV4-related bone disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008196 MONDO:0019698 False parastremmatic dwarfism bent bone dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008201 MONDO:0021095 False Perry syndrome parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008201 MONDO:0100545 False Perry syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008202 MONDO:0003847 False Parotidomegaly, hereditary bilateral hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22784,6 +22746,8 @@ MONDO:0008233 MONDO:0021511 False pheochromocytoma benign neoplasm of adrenal gl MONDO:0008235 MONDO:0003847 False pheochromocytoma-islet cell tumor syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008236 MONDO:0003847 False phlebectasia of lips hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008237 MONDO:0003847 False phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008237 MONDO:0018234 False phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008237 MONDO:0019054 False phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008238 MONDO:0003847 False phosphatase, acid, of tissues hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008239 MONDO:0003847 False phosphoglucomutase 4 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008240 MONDO:0003847 False 6-phosphogluconolactonase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23522,6 +23486,7 @@ MONDO:0009099 MONDO:0002254 False nephrogenic diabetes insipidus-intracranial ca MONDO:0009100 MONDO:0010255 False type 1 diabetes mellitus 1 diabetes mellitus, insulin-dependent, X-linked, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009102 MONDO:0003847 False diaminopentanuria hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009104 MONDO:0015160 False Donnai-Barrow syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009105 MONDO:0003778 False trichohepatoenteric syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009105 MONDO:0005020 False trichohepatoenteric syndrome intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009105 MONDO:0023603 False trichohepatoenteric syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009106 MONDO:0002320 False diastematomyelia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23848,6 +23813,7 @@ MONDO:0009501 MONDO:0700223 False metabolic myopathy due to lactate transporter MONDO:0009504 MONDO:0006040 False mitochondrial DNA depletion syndrome 9 lactic acidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009505 MONDO:0017688 False lactic aciduria due to D-lactic acid disorder of glycolysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009506 MONDO:0003847 False specific granule deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009506 MONDO:0015978 False specific granule deficiency functional neutrophil defect UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009506 MONDO:0024626 False specific granule deficiency defective phagocytic cell engulfment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009508 MONDO:0003847 False Lambotte syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009509 MONDO:0002254 False Landau-Kleffner syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -23916,6 +23882,7 @@ MONDO:0009588 MONDO:0023599 False Langer mesomelic dysplasia mesomelic dysplasia MONDO:0009589 MONDO:0002254 False mesomelic dwarfism-cleft palate-camptodactyly syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009590 MONDO:0018868 False metachromatic leukodystrophy due to saposin B deficiency metachromatic leukodystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009590 MONDO:0100517 False metachromatic leukodystrophy due to saposin B deficiency PSAP-related sphingolipidosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009592 MONDO:0018230 False metaphyseal acroscyphodysplasia skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009593 MONDO:0040566 False spondylometaphyseal dysplasia, Sedaghatian type inherited glutathione metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009593 MONDO:0800080 False spondylometaphyseal dysplasia, Sedaghatian type severe spondylodysplastic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009594 MONDO:0005516 False metaphyseal chondrodysplasia, Kaitila type osteochondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24329,6 +24296,7 @@ MONDO:0010082 MONDO:0002254 False subaortic stenosis-short stature syndrome synd MONDO:0010084 MONDO:0003847 False sucrosuria, hiatus hernia and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010085 MONDO:0002562 False Schilder disease demyelinating disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010088 MONDO:0002051 False mucosulfatidosis integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0010090 MONDO:0015338 False Summitt syndrome syndromic craniosynostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010092 MONDO:0800066 False Filippi syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010093 MONDO:0003847 False syndesmodysplasic dwarfism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010096 MONDO:0003847 False tardive dyskinesia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24720,7 +24688,7 @@ MONDO:0010680 MONDO:0000425 False X-linked Emery-Dreifuss muscular dystrophy X-l MONDO:0010680 MONDO:0021106 False X-linked Emery-Dreifuss muscular dystrophy laminopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010681 MONDO:0003847 False myelolymphatic insufficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010683 MONDO:0000425 False X-linked myotubular myopathy X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010687 MONDO:0008171 False nephrolithiasis, X-linked recessive, with renal failure nephrolithiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010687 MONDO:0008171 False nephrolithiasis, X-linked recessive, with renal failure nephrolithiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010687 MONDO:0100191 False nephrolithiasis, X-linked recessive, with renal failure inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010690 MONDO:0044749 False congenital stationary night blindness 1A X-linked congenital stationary night blindness UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010690 MONDO:0800407 False congenital stationary night blindness 1A NYX-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24808,6 +24776,8 @@ MONDO:0010779 MONDO:0016298 False mitochondrial non-syndromic sensorineural hear MONDO:0010780 MONDO:0009637 False mitochondrial myopathy with reversible cytochrome C oxidase deficiency inborn mitochondrial myopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010781 MONDO:0021190 False ataxia and polyneuropathy, adult-onset DNA repair disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010784 MONDO:0003847 False chloramphenicol toxicity hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010785 MONDO:0015967 False maternally-inherited diabetes and deafness monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010785 MONDO:0016387 False maternally-inherited diabetes and deafness mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010786 MONDO:0005020 False chronic diarrhea with villous atrophy intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010787 MONDO:0002254 False Kearns-Sayre syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010787 MONDO:0002320 False Kearns-Sayre syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -25254,7 +25224,7 @@ MONDO:0011404 MONDO:0003847 False Caronte hereditary disease UNSUPPORTED-MISSING MONDO:0011405 MONDO:0100118 False poikiloderma with neutropenia hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011406 MONDO:0003847 False cholesteatoma, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011407 MONDO:0017627 False facial paresis, hereditary congenital, 2 congenital hereditary facial paralysis-variable hearing loss syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0011409 MONDO:0000093 False hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection Schistosoma mansoni infection, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011409 MONDO:0020573 False hepatic fibrosis, severe, susceptibility to, due to Schistosoma mansoni infection inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011410 MONDO:0003847 False Hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011411 MONDO:0003847 False Chudley-McCullough syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011411 MONDO:0021147 False Chudley-McCullough syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25312,6 +25282,7 @@ MONDO:0011491 MONDO:0020573 False epilepsy, idiopathic generalized, susceptibili MONDO:0011492 MONDO:0003847 False mandibulofacial dysostosis syndrome, Bauru type hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011494 MONDO:0003847 False hyaluronan metabolism, defect 1N hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011496 MONDO:0016761 False mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis spondyloepiphyseal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011496 MONDO:1030002 False mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis dysplasia of the proximal femoral epiphyses UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011498 MONDO:0100182 False schizophrenia 9 schizophrenia, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011500 MONDO:0005073 False Becker nevus syndrome melanocytic nevus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011500 MONDO:0100118 False Becker nevus syndrome hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25336,6 +25307,7 @@ MONDO:0011517 MONDO:0003847 False pseudohyperaldosteronism type 2 hereditary dis MONDO:0011517 MONDO:0024575 False pseudohyperaldosteronism type 2 pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011518 MONDO:0003847 False Wiedemann-Steiner syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011520 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011524 MONDO:0016537 False Dianzani autoimmune lymphoproliferative disease lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011525 MONDO:0015285 False Carney complex type 2 Carney complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011530 MONDO:0023599 False mesomelic dysplasia, Savarirayan type mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011533 MONDO:0005172 False temtamy preaxial brachydactyly syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25413,6 +25385,7 @@ MONDO:0011647 MONDO:0015140 False Alzheimer disease 7 early-onset autosomal domi MONDO:0011648 MONDO:0016642 False radiation-induced meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011650 MONDO:0020573 False atrioventricular septal defect, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011651 MONDO:0003847 False intellectual disability, short stature, facial anomalies, and joint dislocations hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011652 MONDO:0022760 False Phelan-McDermid syndrome chromosome 22q deletion UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011653 MONDO:0017895 False thyroid cancer, nonmedullary, 3 familial papillary or follicular thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011654 MONDO:0003847 False intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011655 MONDO:0003847 False alveolar soft part sarcoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -25474,6 +25447,7 @@ MONDO:0011741 MONDO:0100179 False Hirschsprung disease, susceptibility to, 6 Hir MONDO:0011742 MONDO:0100179 False Hirschsprung disease, susceptibility to, 7 Hirschsprung disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011743 MONDO:0015140 False Alzheimer disease 4 early-onset autosomal dominant Alzheimer disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011744 MONDO:0003847 False primary intraosseous venous malformation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011744 MONDO:0016223 False primary intraosseous venous malformation infantile hemangioma of rare localization UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011745 MONDO:0003847 False duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011746 MONDO:0003847 False symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011747 MONDO:0020573 False dyslexia, susceptibility to, 5 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25550,6 +25524,7 @@ MONDO:0011869 MONDO:0015550 False epidermolysis bullosa simplex superficialis su MONDO:0011870 MONDO:0020702 False annular epidermolytic ichthyosis autosomal dominant epidermolytic ichthyosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011871 MONDO:0006025 False Niemann-Pick disease type B autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011871 MONDO:0100464 False Niemann-Pick disease type B acid sphingomyelinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011872 MONDO:0015134 False Griscelli syndrome type 2 constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011872 MONDO:0015541 False Griscelli syndrome type 2 hereditary hemophagocytic lymphohistiocytosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011873 MONDO:0018982 False Niemann-Pick disease, type C2 Niemann-Pick disease type C UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011874 MONDO:0002254 False neonatal ichthyosis-sclerosing cholangitis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25680,6 +25655,8 @@ MONDO:0012089 MONDO:0043905 False ichthyosis prematurity syndrome pneumonitis UN MONDO:0012093 MONDO:0023122 False prostate cancer, hereditary, 3 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012094 MONDO:0023122 False prostate cancer, hereditary, 4 familial prostate carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012095 MONDO:0003847 False intellectual disability-brachydactyly-Pierre Robin syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012095 MONDO:0018234 False intellectual disability-brachydactyly-Pierre Robin syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012095 MONDO:0019054 False intellectual disability-brachydactyly-Pierre Robin syndrome congenital limb malformation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012097 MONDO:0010180 False spondylocostal dysostosis 2, autosomal recessive autosomal recessive spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012099 MONDO:0002320 False AICA-ribosiduria congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012099 MONDO:0015159 False AICA-ribosiduria multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26506,6 +26483,7 @@ MONDO:0013532 MONDO:0003847 False protein Z deficiency hereditary disease UNSUPP MONDO:0013533 MONDO:0001336 False hyperlipidemia due to hepatic triglyceride lipase deficiency familial hyperlipidemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013535 MONDO:0003847 False hydroxyacyl glutathione hydrolase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013540 MONDO:0002254 False deafness-lymphedema-leukemia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013540 MONDO:0005570 False deafness-lymphedema-leukemia syndrome hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013540 MONDO:0019313 False deafness-lymphedema-leukemia syndrome lymphatic malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013540 MONDO:0042982 False deafness-lymphedema-leukemia syndrome GATA2 deficiency with susceptibility to MDS/AML UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013543 MONDO:0003847 False trypsinogen deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27044,7 +27022,6 @@ MONDO:0014559 MONDO:0005395 False progressive essential tremor-speech impairment MONDO:0014559 MONDO:0019216 False progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014559 MONDO:0100545 False progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014560 MONDO:0015047 False amelogenesis imperfecta type 1F amelogenesis imperfecta type 1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014563 MONDO:0003847 False mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014563 MONDO:0044970 False mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency mitochondrial disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014564 MONDO:0100372 False congenital bile acid synthesis defect 5 disorder of peroxisomal transporter UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014565 MONDO:0011060 False cataract 43 early-onset non-syndromic cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -27262,7 +27239,6 @@ MONDO:0014931 MONDO:0003847 False Alazami-Yuan syndrome hereditary disease UNSUP MONDO:0014933 MONDO:0018614 False developmental and epileptic encephalopathy, 44 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014933 MONDO:0100455 False developmental and epileptic encephalopathy, 44 neonatal-onset developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014934 MONDO:0020380 False spinocerebellar ataxia, autosomal recessive 24 autosomal dominant cerebellar ataxia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0014936 MONDO:0003847 False ZTTK syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014937 MONDO:0002466 False aniridia 2 eye carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014937 MONDO:0002658 False aniridia 2 iris cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014937 MONDO:0003008 False aniridia 2 hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27352,6 +27328,7 @@ MONDO:0015091 MONDO:0015087 False autosomal dominant spastic paraplegia type 9 a MONDO:0015091 MONDO:0100126 False autosomal dominant spastic paraplegia type 9 P5CS deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015095 MONDO:0011414 False Peters anomaly-cataract syndrome Peters anomaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015096 MONDO:0008737 False familial hypofibrinogenemia congenital afibrinogenemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015100 MONDO:0019453 False aregenerative anemia myelodysplastic syndrome with multilineage dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015104 MONDO:0002406 False porphyria cutanea tarda dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015109 MONDO:0003767 False congenital anomaly of the mitral subvalvular apparatus mitral valve disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015126 MONDO:0005151 False polyendocrinopathy endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27496,6 +27473,8 @@ MONDO:0015411 MONDO:0023369 False facial cleft disorder of facial skeleton UNSUP MONDO:0015414 MONDO:0008866 False paramedian nasal cleft bifid nose, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015420 MONDO:0000358 False cleft lip and alveolus orofacial cleft UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015420 MONDO:0021147 False cleft lip and alveolus disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015421 MONDO:0015375 False orofaciodigital syndrome type 12 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015422 MONDO:0015375 False orofaciodigital syndrome type 13 orofaciodigital syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015425 MONDO:0003847 False lethal recessive chondrodysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015425 MONDO:0022723 False lethal recessive chondrodysplasia chondrodysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015426 MONDO:0003847 False Desbuquois dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -27528,6 +27507,8 @@ MONDO:0015441 MONDO:0700091 False ring chromosome 7 ring chromosome disorder UNS MONDO:0015443 MONDO:0700015 False chromosome 8-derived supernumerary ring/marker chromosome 8 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015443 MONDO:0700091 False chromosome 8-derived supernumerary ring/marker ring chromosome disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015445 MONDO:0000426 False autosomal dominant coarctation of aorta autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015445 MONDO:0007345 False autosomal dominant coarctation of aorta aorta coarctation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015446 MONDO:0007345 False atypical coarctation of aorta aorta coarctation UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015448 MONDO:0000066 False mitochondrial complex III deficiency mitochondrial complex deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015452 MONDO:0005172 False Coffin-Siris syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015453 MONDO:0000587 False Cogan syndrome autoimmune disease of ear, nose and throat UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -27618,7 +27599,9 @@ MONDO:0015663 MONDO:0005151 False diencephalic syndrome endocrine system disorde MONDO:0015664 MONDO:0700007 False idiopathic pulmonary artery dilatation idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015666 MONDO:0700007 False familial idiopathic dilatation of the right atrium idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015672 MONDO:0021147 False diprosopus disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015674 MONDO:0002561 False late infantile neuronal ceroid lipofuscinosis lysosomal storage disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015675 MONDO:0005135 False distomatosis parasitic infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015678 MONDO:0018230 False dysplasia of head of femur, Meyer type skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015686 MONDO:0002113 False primary peritoneal carcinoma peritoneal carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015691 MONDO:0002254 False hypereosinophilic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015691 MONDO:0044972 False hypereosinophilic syndrome eosinophil disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28538,6 +28521,10 @@ MONDO:0017528 MONDO:0008271 False polydactyly of an index finger, bilateral poly MONDO:0017536 MONDO:0017456 False central polydactyly of fingers, bilateral central polydactyly of fingers UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017538 MONDO:0017457 False Preaxial polydactyly of toes, bilateral Preaxial polydactyly of toes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017549 MONDO:0017983 False humero-radio-ulnar synostosis, bilateral humero-radio-ulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017552 MONDO:0019782 False humero-ulnar synostosis, unilateral humero-ulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017553 MONDO:0019782 False humero-ulnar synostosis, bilateral humero-ulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017554 MONDO:0017985 False radio-ulnar synostosis, unilateral congenital radioulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017555 MONDO:0017985 False radio-ulnar synostosis, bilateral congenital radioulnar synostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017557 MONDO:0018154 False Madelung deformity, bilateral Madelung deformity UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017563 MONDO:0017471 False congenital patella dislocation, bilateral congenital patella dislocation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017571 MONDO:0002051 False Proteus-like syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28723,6 +28710,7 @@ MONDO:0017929 MONDO:0021147 False congenital achiasma disorder of development or MONDO:0017930 MONDO:0005381 False mixed sclerosing bone dystrophy with extra-skeletal manifestations bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017939 MONDO:0100493 False classic multiminicore myopathy autosomal recessive titinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017941 MONDO:0005643 False chikungunya Alphavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0017941 MONDO:0018093 False chikungunya arbovirus fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017941 MONDO:0100120 False chikungunya vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017942 MONDO:0020067 False Hendra virus infection infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017943 MONDO:0007179 False autoerythrocyte sensitization syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28733,6 +28721,7 @@ MONDO:0017948 MONDO:0011583 False ABetaA21G amyloidosis cerebral amyloid angiopa MONDO:0017949 MONDO:0011583 False ABeta amyloidosis, Arctic type cerebral amyloid angiopathy, APP-related UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017953 MONDO:0023603 False hereditary periodic fever syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017979 MONDO:0007179 False autoimmune lymphoproliferative syndrome autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0017979 MONDO:0016537 False autoimmune lymphoproliferative syndrome lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017979 MONDO:0021058 False autoimmune lymphoproliferative syndrome neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017980 MONDO:0002254 False syngnathia multiple anomalies syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017980 MONDO:0003847 False syngnathia multiple anomalies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29224,6 +29213,7 @@ MONDO:0018855 MONDO:0021036 False keratosis pilaris atrophicans keratosis pilari MONDO:0018855 MONDO:0100118 False keratosis pilaris atrophicans hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018860 MONDO:0002254 False microlissencephaly-micromelia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018864 MONDO:0002052 False Kikuchi-Fujimoto disease lymphadenitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018866 MONDO:0003778 False Aicardi-Goutieres syndrome inborn error of immunity UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018866 MONDO:0006025 False Aicardi-Goutieres syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018866 MONDO:0023603 False Aicardi-Goutieres syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018870 MONDO:0003847 False arterial calcification of infancy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -29510,6 +29500,12 @@ MONDO:0019249 MONDO:0019214 False mucopolysaccharidosis inborn carbohydrate meta MONDO:0019249 MONDO:0100365 False mucopolysaccharidosis mucopolysaccharidosis or mucopolysaccharidosis-like disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019251 MONDO:0019214 False oligosaccharidosis inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019256 MONDO:0045012 False sterol metabolism disorder steroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019260 MONDO:0016295 False adult neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019260 MONDO:0020143 False adult neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019261 MONDO:0016295 False infantile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019261 MONDO:0020143 False infantile neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019262 MONDO:0016295 False juvenile neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019262 MONDO:0020143 False juvenile neuronal ceroid lipofuscinosis cerebral lipidosis with dementia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019263 MONDO:0001676 False autosomal erythropoietic protoporphyria erythropoietic protoporphyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019268 MONDO:0005093 False epidermal disease skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019272 MONDO:0006590 False hereditary palmoplantar keratoderma palmoplantar keratosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29603,6 +29599,7 @@ MONDO:0019409 MONDO:0700007 False idiopathic juvenile osteoporosis idiopathic di MONDO:0019411 MONDO:0007653 False genochondromatosis type 1 genochondromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019413 MONDO:0002254 False ischio-vertebral syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019413 MONDO:0003847 False ischio-vertebral syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019413 MONDO:0018234 False ischio-vertebral syndrome dysostosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019414 MONDO:0002254 False BRESEK syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019415 MONDO:0002243 False fetal and neonatal alloimmune thrombocytopenia hemorrhagic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019416 MONDO:0002320 False X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29815,6 +29812,7 @@ MONDO:0019851 MONDO:0005387 False acquired primary ovarian failure primary ovari MONDO:0019852 MONDO:0003847 False inherited primary ovarian failure hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019852 MONDO:0005387 False inherited primary ovarian failure primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019852 MONDO:0015514 False inherited primary ovarian failure hereditary endocrine growth disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019852 MONDO:0021124 False inherited primary ovarian failure female infertility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019854 MONDO:0009043 False thyroid ectopia generalized resistance to thyroid hormone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019855 MONDO:0009043 False athyreosis generalized resistance to thyroid hormone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019858 MONDO:0700007 False idiopathic congenital hypothyroidism idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30020,6 +30018,7 @@ MONDO:0020356 MONDO:0007350 False coloboma of iris coloboma, ocular, autosomal d MONDO:0020357 MONDO:0001476 False coloboma of eyelid coloboma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020364 MONDO:0000766 False posterior polymorphous corneal dystrophy corneal endothelial dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020364 MONDO:0003847 False posterior polymorphous corneal dystrophy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020365 MONDO:0020214 False congenital hereditary endothelial dystrophy type I posterior corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020366 MONDO:0018174 False congenital glaucoma hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020368 MONDO:0005328 False Axenfeld anomaly eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020378 MONDO:0013411 False early-onset posterior polar cataract cataract 16 multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30059,6 +30058,7 @@ MONDO:0020469 MONDO:0700028 False 48,XYYY syndrome chromosome Y disorder UNSUPPO MONDO:0020470 MONDO:0700028 False 49,XYYYY syndrome chromosome Y disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020470 MONDO:0700085 False 49,XYYYY syndrome pentasomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020473 MONDO:0019701 False dappled diaphyseal dysplasia chondrodysplasia punctata UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020474 MONDO:0018230 False cheirospondyloenchondromatosis skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020479 MONDO:0006793 False pituitary gigantism hyperpituitarism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020479 MONDO:0019927 False pituitary gigantism growth hormone-producing pituitary gland neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020485 MONDO:0002320 False King-Denborough syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30077,6 +30077,7 @@ MONDO:0020499 MONDO:0005785 False Nipah virus disease henipavirus infectious dis MONDO:0020500 MONDO:0005762 False Marburg hemorrhagic fever Filoviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020501 MONDO:0100120 False Crimean-Congo hemorrhagic fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020502 MONDO:0005763 False yellow fever Flaviviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020502 MONDO:0018093 False yellow fever arbovirus fever UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020502 MONDO:0100120 False yellow fever vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020510 MONDO:0700007 False idiopathic syringomyelia idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020511 MONDO:0017595 False precursor B-cell acute lymphoblastic leukemia aggressive B-cell non-Hodgkin lymphoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30100,6 +30101,7 @@ MONDO:0020542 MONDO:0036595 False malignant Sertoli-Leydig cell tumor of ovary o MONDO:0020544 MONDO:0021680 False streptococcal toxic-shock syndrome streptococcal infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020546 MONDO:0020683 False acute graft versus host disease acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020550 MONDO:0003578 False gestational choriocarcinoma extragonadal nonseminomatous germ cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0020554 MONDO:0020553 False Heiner syndrome secondary pulmonary hemosiderosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020559 MONDO:0011224 False O'Sullivan-McLeod syndrome monomelic amyotrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020560 MONDO:0002217 False atypical teratoid rhabdoid tumor central nervous system sarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0020567 MONDO:0019092 False apnea of prematurity infantile apnea UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31514,7 +31516,6 @@ MONDO:0026045 MONDO:0005093 False prurigo nodularis skin disorder UNSUPPORTED-MI MONDO:0026404 MONDO:0100209 False X inactivation, familial skewed, 1 X inactivation, familial skewed UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0026426 MONDO:0100209 False X inactivation, familial skewed, 2 X inactivation, familial skewed UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0026730 MONDO:0002254 False Basilicata-Akhtar syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0026763 MONDO:0020605 False holoprosencephaly 13, X-linked X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0026777 MONDO:0023603 False VEXAS syndrome hereditary disorder of connective tissue UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027026 MONDO:0002149 False Buschke Lowenstein tumor reproductive system cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0027026 MONDO:0005647 False Buschke Lowenstein tumor anogenital human papillomavirus infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32018,6 +32019,8 @@ MONDO:0035651 MONDO:0003847 False choanal atresia-athelia-hypothyroidism-delayed MONDO:0035660 MONDO:0003847 False GNAO1-related developmental delay-seizures-movement disorder spectrum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035661 MONDO:0002254 False TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035661 MONDO:0003847 False TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035667 MONDO:0044688 False isolated optic neuritis without anti-MOG antibodies isolated optic neuritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0035668 MONDO:0044688 False isolated optic neuritis with anti-MOG antibodies isolated optic neuritis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035678 MONDO:0021171 False Timothy syndrome type 1 Timothy syndrome, classic type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035679 MONDO:0021171 False Timothy syndrome type 2 Timothy syndrome, classic type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0035706 MONDO:0000508 False SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32081,7 +32084,6 @@ MONDO:0037821 MONDO:0005066 False porphyrin metabolism disease metabolic disease MONDO:0037829 MONDO:0005066 False purine metabolism disease metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037847 MONDO:0000812 False vertebral joint disorder vertebral column disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037847 MONDO:0006816 False vertebral joint disorder arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0037858 MONDO:0000688 False inherited fatty acid metabolism disorder inborn organic aciduria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037858 MONDO:0002525 False inherited fatty acid metabolism disorder inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037858 MONDO:0019189 False inherited fatty acid metabolism disorder inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0037870 MONDO:0037871 False valine metabolism disease amino acid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32704,7 +32706,7 @@ MONDO:0045071 MONDO:0015821 False mycosis fungoides variant mycosis fungoides an MONDO:0045072 MONDO:0021058 False ectopic hormone secretion syndrome associated with neoplasia neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0049223 MONDO:0800064 False osteogenesis imperfecta, type 19 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054549 MONDO:0100261 False peroxisome biogenesis disorder 10B peroxisome biogenesis disorder due to PEX3 defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054550 MONDO:0022800 False avascular necrosis of femoral head, primary, 1 type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0054550 MONDO:1030002 False avascular necrosis of femoral head, primary, 1 dysplasia of the proximal femoral epiphyses UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054573 MONDO:0002254 False Lopes-Maciel-Rodan syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054581 MONDO:0800066 False Townes-Brocks syndrome 1 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054591 MONDO:0002254 False Stankiewicz-Isidor syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32717,7 +32719,6 @@ MONDO:0054750 MONDO:0020573 False amyotrophic lateral sclerosis, susceptibility MONDO:0054754 MONDO:0800174 False encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8 encephalitis, acute, infection-induced, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054780 MONDO:0017319 False elliptocytosis 3 hereditary elliptocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054837 MONDO:0015802 False intellectual disability, autosomal dominant 57 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0054842 MONDO:0004691 False polycystic kidney disease 6 with or without polycystic liver disease autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054862 MONDO:0003225 False premature ovarian failure 15 bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0054865 MONDO:0100276 False encephalopathy due to mitochondrial and peroxisomal fission defect disorder of defective peroxisomal and mitochondrial fission UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054866 MONDO:0007263 False sudden arrhythmia death syndrome cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33185,6 +33186,7 @@ MONDO:0700163 MONDO:1011436 False canine Langerhans cell histiocytosis histiocyt MONDO:0700165 MONDO:0700155 False canine thyroid gland medullary carcinoma canine thyroid adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700166 MONDO:0025478 False canine transmissible venereal tumor venereal tumors, veterinary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700169 MONDO:1011328 False canine cutaneous t-cell lymphoma integumentary system disorder, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0700169 MONDO:1011828 False canine cutaneous t-cell lymphoma cancer, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700171 MONDO:0700132 False horse melanoma melanoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700171 MONDO:0700170 False horse melanoma equine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700172 MONDO:0700102 False horse lymphoma lymphoma, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33258,7 +33260,6 @@ MONDO:0800026 MONDO:0021635 False central hypoventilation syndrome, congenital, MONDO:0800026 MONDO:0100545 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800028 MONDO:0005395 False dyskinesia with orofacial involvement, autosomal dominant movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800028 MONDO:0100545 False dyskinesia with orofacial involvement, autosomal dominant hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800029 MONDO:0002771 False interstitial lung disease 2 pulmonary fibrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800029 MONDO:0100137 False interstitial lung disease 2 telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800030 MONDO:0002254 False gastrointestinal defects and immunodeficiency syndrome 1 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800031 MONDO:0003847 False central hypoventilation syndrome, congenital hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33410,6 +33411,7 @@ MONDO:0800480 MONDO:0016225 False non-verbal learning disability specific learni MONDO:0800481 MONDO:0005167 False oral fibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800486 MONDO:0005381 False metabolic bone disorder bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0810000 MONDO:0005328 False choroidal neovascularization eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0850001 MONDO:0016295 False congenital neuronal ceroid lipofuscinosis neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850007 MONDO:0001854 False syndromic lacrimal system disorder lacrimal apparatus disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850008 MONDO:0005328 False anterior segment developmental abnormality with extraocular manifestations eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0850009 MONDO:0002254 False syndromic microspherophakia syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33821,6 +33823,7 @@ MONDO:1010000 MONDO:0005550 False pythiosis infectious disease UNSUPPORTED-MISSI MONDO:1030001 MONDO:0020573 False epilepsy, juvenile absence, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000005 MONDO:0002041 False fungal discitis fungal infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000005 MONDO:8000000 False fungal discitis infectious discitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:8000006 MONDO:0015134 False WHIM syndrome 1 constitutional neutropenia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000010 MONDO:0002254 False antiphospholipid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:8000014 MONDO:0000426 False familial antiphospholipid syndrome autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000014 MONDO:8000010 False familial antiphospholipid syndrome antiphospholipid syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING diff --git a/src/ontology/slurp/doid.tsv b/src/ontology/slurp/doid.tsv index cfdc816a..6562fab4 100644 --- a/src/ontology/slurp/doid.tsv +++ b/src/ontology/slurp/doid.tsv @@ -8,29 +8,28 @@ MONDO:0958359 childhood spinal muscular atrophy DOID:0060160 MONDO:equivalentTo MONDO:0958360 cholesterol-ester transfer protein deficiency DOID:0111368 MONDO:equivalentTo cholesterol-ester transfer protein deficiency MONDO:0002525 MONDO:0968993 aleutian mink disease DOID:2934 MONDO:equivalentTo aleutian mink disease MONDO:0005108 MONDO:0968994 borna disease DOID:5154 MONDO:equivalentTo borna disease MONDO:0005108|MONDO:0002602 -MONDO:0970966 ullrich congenital muscular dystrophy 2 DOID:0060948 MONDO:equivalentTo Ullrich congenital muscular dystrophy 2 MONDO:0000355 -MONDO:0970967 3-hydroxyisobutryl-coa hydrolase deficiency DOID:0060949 MONDO:equivalentTo 3-hydroxyisobutryl-CoA hydrolase deficiency MONDO:0006025|MONDO:0004736 -MONDO:0970968 hypervalinemia and hyperleucine-isoleucinemia DOID:0060950 MONDO:equivalentTo hypervalinemia and hyperleucine-isoleucinemia An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13. MONDO:0004736|MONDO:0006025 -MONDO:0970969 polycystic kidney disease 6 DOID:0060951 MONDO:equivalentTo polycystic kidney disease 6 An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27. MONDO:0004691 -MONDO:0970970 polycystic kidney disease 7 DOID:0060952 MONDO:equivalentTo polycystic kidney disease 7 A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13. MONDO:0004691 -MONDO:0970971 zttk syndrome DOID:0060953 MONDO:equivalentTo ZTTK syndrome MONDO:0000426|MONDO:0002254 -MONDO:0970972 holoprosencephaly 13, x-linked DOID:0060954 MONDO:equivalentTo Holoprosencephaly 13, X-linked MONDO:0016296|MONDO:0020605|MONDO:0020604 -MONDO:0970973 orofaciodigital syndrome xiv DOID:0060958 MONDO:equivalentTo orofaciodigital syndrome XIV MONDO:0015375|MONDO:0006025 -MONDO:0970974 orofaciodigital syndrome ii DOID:0060959 MONDO:equivalentTo orofaciodigital syndrome II MONDO:0015375|MONDO:0006025 -MONDO:0970975 orofaciodigital syndrome xix DOID:0060960 MONDO:equivalentTo orofaciodigital syndrome XIX MONDO:0015375|MONDO:0006025 -MONDO:0970976 orofaciodigital syndrome xviii DOID:0060961 MONDO:equivalentTo orofaciodigital syndrome XVIII MONDO:0006025|MONDO:0015375 -MONDO:0970977 orofaciodigital syndrome xx DOID:0060962 MONDO:equivalentTo orofaciodigital syndrome XX MONDO:0015375|MONDO:0006025 -MONDO:0970978 loeys-dietz syndrome 6 DOID:0060964 MONDO:equivalentTo Loeys-Dietz syndrome 6 MONDO:0018954 -MONDO:0970979 episodic ataxia type 9 DOID:0060965 MONDO:equivalentTo episodic ataxia type 9 MONDO:0016227|MONDO:0000426 -MONDO:0970980 hypotrichosis 15 DOID:0060968 MONDO:equivalentTo hypotrichosis 15 MONDO:0003037|MONDO:0006025 -MONDO:0970981 galactosemia 4 DOID:0060969 MONDO:equivalentTo galactosemia 4 MONDO:0018116 -MONDO:0970982 cornelia de lange syndrome 6 DOID:0060970 MONDO:equivalentTo Cornelia de Lange syndrome 6 MONDO:0016033|MONDO:0000426 -MONDO:0970983 mitochondrial short-chain enoyl-coa hydratase 1 deficiency DOID:0070540 MONDO:equivalentTo mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MONDO:0004736|MONDO:0002525|MONDO:0004069|MONDO:0006025 -MONDO:0970984 3-hydroxy-3-methylglutaryl-coa lyase deficiency DOID:0070541 MONDO:equivalentTo 3-hydroxy-3-methylglutaryl-CoA lyase deficiency MONDO:0004736|MONDO:0006025 -MONDO:0970985 neurodevelopmental disorder with spastic paraplegia and microcephaly DOID:0070542 MONDO:equivalentTo neurodevelopmental disorder with spastic paraplegia and microcephaly MONDO:0019502|MONDO:0004736 -MONDO:0970986 neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities DOID:0070543 MONDO:equivalentTo neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MONDO:0004736|MONDO:0004069|MONDO:0006025 -MONDO:0970987 congenital glutamine deficiency DOID:0070544 MONDO:equivalentTo congenital glutamine deficiency MONDO:0004736|MONDO:0006025 -MONDO:0970988 developmental and epileptic encephalopathy 116 DOID:0070545 MONDO:equivalentTo developmental and epileptic encephalopathy 116 MONDO:0004736|MONDO:0100062|MONDO:0000426 -MONDO:0970989 dent disease 1 DOID:0081453 MONDO:equivalentTo Dent disease 1 A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent. MONDO:0015612 -MONDO:0970990 dent disease 2 DOID:0081454 MONDO:equivalentTo Dent disease 2 A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26. MONDO:0015612 MONDO:0970991 papilledema DOID:146 MONDO:equivalentTo papilledema MONDO:0002135 +MONDO:0970996 interstitial lung disease 2 DOID:0060971 MONDO:equivalentTo interstitial lung disease 2 MONDO:0015925|MONDO:0000426 +MONDO:0970997 renal hypomagnesemia 7, with or without dilated cardiomyopathy DOID:0060972 MONDO:equivalentTo renal hypomagnesemia 7, with or without dilated cardiomyopathy MONDO:0018100|MONDO:0000426 +MONDO:0971003 whim syndrome 2 DOID:0060973 MONDO:equivalentTo WHIM syndrome 2 MONDO:0003778|MONDO:0006025 +MONDO:0971017 autosomal recessive robinow syndrome 2 DOID:0060974 MONDO:equivalentTo autosomal recessive Robinow syndrome 2 MONDO:0019978|MONDO:0006025 +MONDO:0971018 polycystic liver disease 2 DOID:0060975 MONDO:equivalentTo polycystic liver disease 2 MONDO:0005154|MONDO:0000426 +MONDO:0971019 polycystic liver disease 3 with or without kidney cysts DOID:0060976 MONDO:equivalentTo polycystic liver disease 3 with or without kidney cysts MONDO:0005154|MONDO:0000426 +MONDO:0971020 polycystic liver disease 4 with or without kidney cysts DOID:0060977 MONDO:equivalentTo polycystic liver disease 4 with or without kidney cysts MONDO:0005154|MONDO:0000426 +MONDO:0971021 primary pigmented nodular adrenocortical disease 1 DOID:0070546 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 1 MONDO:0000426|MONDO:0015999 +MONDO:0971022 primary pigmented nodular adrenocortical disease 2 DOID:0070547 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 2 MONDO:0000426|MONDO:0015999 +MONDO:0971023 primary pigmented nodular adrenocortical disease 3 DOID:0070548 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 3 MONDO:0015999 +MONDO:0971024 primary pigmented nodular adrenocortical disease 4 DOID:0070549 MONDO:equivalentTo primary pigmented nodular adrenocortical disease 4 MONDO:0015999|MONDO:0000426 +MONDO:0971025 krt1-related nonepidermolytic palmoplantar keratoderma DOID:0070550 MONDO:equivalentTo KRT1-related nonepidermolytic palmoplantar keratoderma MONDO:0010962 +MONDO:0971026 epidermolytic palmoplantar keratoderma 2 DOID:0070551 MONDO:equivalentTo epidermolytic palmoplantar keratoderma 2 MONDO:0007758|MONDO:0000426 +MONDO:0971027 epidermolytic palmoplantar keratoderma 1 DOID:0070552 MONDO:equivalentTo epidermolytic palmoplantar keratoderma 1 MONDO:0007758|MONDO:0000426 +MONDO:0971028 focal palmoplantar and gingival keratosis DOID:0070553 MONDO:equivalentTo focal palmoplantar and gingival keratosis MONDO:0006590 +MONDO:0971029 palmoplantar keratoderma and woolly hair DOID:0070554 MONDO:equivalentTo palmoplantar keratoderma and woolly hair MONDO:0010962|MONDO:0006025 +MONDO:0971030 nagashima-type palmoplantar keratosis DOID:0070555 MONDO:equivalentTo Nagashima-type palmoplantar keratosis MONDO:0010962|MONDO:0006025 +MONDO:0971031 auto-brewery syndrome DOID:0081455 MONDO:equivalentTo auto-brewery syndrome An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication. MONDO:0006504 +MONDO:0971032 bladder fermentation syndrome DOID:0081456 MONDO:equivalentTo bladder fermentation syndrome An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication. MONDO:0006504 +MONDO:0971033 intrathyroid thymic carcinoma DOID:0081457 MONDO:equivalentTo intrathyroid thymic carcinoma A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation. MONDO:0015075 +MONDO:0971034 thyroid gland cribriform morular carcinoma DOID:0081458 MONDO:equivalentTo thyroid gland cribriform morular carcinoma A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. MONDO:0015075 +MONDO:0971035 thyroid gland mixed medullary and follicular cell-derived carcinoma DOID:0081459 MONDO:equivalentTo thyroid gland mixed medullary and follicular cell-derived carcinoma A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin. MONDO:0015075 +MONDO:0971036 thyroid gland mucinous carcinoma DOID:0081460 MONDO:equivalentTo thyroid gland mucinous carcinoma A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition. MONDO:0015075 +MONDO:0971037 thyroid gland spindle epithelial tumor with thymus-like elements DOID:0081461 MONDO:equivalentTo thyroid gland spindle epithelial tumor with thymus-like elements A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. MONDO:0015075 diff --git a/src/ontology/slurp/icd10cm.tsv b/src/ontology/slurp/icd10cm.tsv index 44b8c89c..85bf0f3f 100644 --- a/src/ontology/slurp/icd10cm.tsv +++ b/src/ontology/slurp/icd10cm.tsv @@ -1889,3 +1889,6 @@ MONDO:0883530 late pregnancy ICD10CM:O48 MONDO:equivalentTo Late pregnancy MONDO:0883963 disorders of muscle tone of newborn ICD10CM:P94 MONDO:equivalentTo Disorders of muscle tone of newborn MONDO:0883968 other conditions originating in the perinatal period ICD10CM:P96 MONDO:equivalentTo Other conditions originating in the perinatal period MONDO:0957527 obstructive hypertrophic cardiomyopathy ICD10CM:I42.1 MONDO:equivalentTo Obstructive hypertrophic cardiomyopathy MONDO:0004994 +MONDO:0971039 besnier's prurigo ICD10CM:L20.0 MONDO:equivalentTo Besnier's prurigo MONDO:0004980 +MONDO:0971040 other atopic dermatitis ICD10CM:L20.8 MONDO:equivalentTo Other atopic dermatitis MONDO:0004980 +MONDO:0971041 atopic dermatitis, unspecified ICD10CM:L20.9 MONDO:equivalentTo Atopic dermatitis, unspecified MONDO:0004980 diff --git a/src/ontology/slurp/omim.tsv b/src/ontology/slurp/omim.tsv index e757769c..4b45acb4 100644 --- a/src/ontology/slurp/omim.tsv +++ b/src/ontology/slurp/omim.tsv @@ -1,2 +1,4 @@ mondo_id mondo_label xref xref_source original_label definition parents ID LABEL A oboInOwl:hasDbXref >A oboInOwl:source SPLIT=| A IAO:0000115 SC % +MONDO:0971043 neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities OMIM:620852 MONDO:equivalentTo neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities +MONDO:0971044 ehlers-danlos syndrome, classic-like, 3 OMIM:620865 MONDO:equivalentTo ehlers-danlos syndrome, classic-like, 3 MONDO:0020066 diff --git a/src/ontology/slurp/ordo.tsv b/src/ontology/slurp/ordo.tsv index 4428d503..32f6e6e0 100644 --- a/src/ontology/slurp/ordo.tsv +++ b/src/ontology/slurp/ordo.tsv @@ -1,2 +1,104 @@ mondo_id mondo_label xref xref_source original_label definition parents subset ID LABEL A oboInOwl:hasDbXref >A oboInOwl:source SPLIT=| A IAO:0000115 SC % +MONDO:0971046 behr syndrome Orphanet:1239 MONDO:equivalentTo Behr syndrome MONDO:8000034|MONDO:0020225|MONDO:0016135|MONDO:0035862|MONDO:8000032 disorder +MONDO:0971047 prc-2 complex-related overgrowth spectrum Orphanet:659387 MONDO:equivalentTo PRC-2 complex-related overgrowth spectrum MONDO:8000033|MONDO:0800091|MONDO:0015159|MONDO:0035863|MONDO:0019716 group of disorders +MONDO:0971048 facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome Orphanet:659609 MONDO:equivalentTo Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome MONDO:8000034|MONDO:0000001|MONDO:0035863|MONDO:0015159|MONDO:0017120 disorder +MONDO:0971049 single isolated optic neuritis Orphanet:659626 MONDO:equivalentTo Single isolated optic neuritis MONDO:8000031|MONDO:0044688 subtype of a disorder +MONDO:0971050 relapsing isolated optic neuritis Orphanet:659634 MONDO:equivalentTo Relapsing isolated optic neuritis MONDO:8000031|MONDO:0044688 subtype of a disorder +MONDO:0971051 rauch-steindl syndrome Orphanet:659642 MONDO:equivalentTo Rauch-Steindl syndrome MONDO:0015329|MONDO:0026187|MONDO:0017119|MONDO:8000031|MONDO:0015159|MONDO:0035863 subtype of a disorder +MONDO:0971052 erythropoietic porphyria Orphanet:659681 MONDO:equivalentTo Erythropoietic porphyria MONDO:0019142|MONDO:8000033 group of disorders +MONDO:0971053 hepatic porphyria Orphanet:659694 MONDO:equivalentTo Hepatic porphyria MONDO:0019142|MONDO:8000033|MONDO:0015115 group of disorders +MONDO:0971054 intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome Orphanet:659702 MONDO:equivalentTo Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome MONDO:0015329|MONDO:0015159|MONDO:8000034|MONDO:0035863|MONDO:0026187|MONDO:8000032 disorder +MONDO:0971055 rare yersiniosis Orphanet:659712 MONDO:equivalentTo Rare yersiniosis MONDO:8000033|MONDO:0015575 group of disorders +MONDO:0971056 ocular surface squamous neoplasia Orphanet:659744 MONDO:equivalentTo Ocular surface squamous neoplasia MONDO:0000001|MONDO:8000034|MONDO:0015121 disorder +MONDO:0971057 oroya fever Orphanet:659756 MONDO:equivalentTo Oroya fever A rare bacterial infectious disease characterized by severe acute hemolytic anemia, fever, malaise, myalgia, headache, tachycardia, jaundice, and hepatomegaly occurring around 60 days after the bite of a sand fly infected with Bartonella bacilliformis. Complications are common and include secondary infections and cardiovascular and neurological problems. Fatality rates are high without antimicrobial intervention. MONDO:0018984|MONDO:8000031 subtype of a disorder +MONDO:0971058 verruga peruana Orphanet:659759 MONDO:equivalentTo Verruga peruana A rare bacterial infectious disease characterized by development of endothelial cell-derived, blood-filled tumors on the surface of the skin during the chronic phase of infection with Bartonella bacilliformis. The lesions can persist for months to years and may cause pain and scarring due to ulceration. They are classified as miliary (multiple red papules of <3 mm in diameter), mular (blood-filled nodules), and diffuse (groups of subdermal nodules >5 mm in diameter). Eruptions may be accompanied by fever and malaise, lymphadenopathy, acute bone and joint pains, and headache. Fatality rates during this phase are low. MONDO:0018984|MONDO:8000031 subtype of a disorder +MONDO:0971059 wormian bones-micrognathia-abnormal dentition-progeroid syndrome Orphanet:659873 MONDO:equivalentTo Wormian bones-micrognathia-abnormal dentition-progeroid syndrome MONDO:0031689|MONDO:0015336|MONDO:0043008|MONDO:8000032|MONDO:0015161|MONDO:8000034|MONDO:0015333 disorder +MONDO:0971060 multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome Orphanet:659904 MONDO:equivalentTo Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome MONDO:8000032|MONDO:8000034|MONDO:0035863|MONDO:0015159 disorder +MONDO:0971061 glanders Orphanet:659908 MONDO:equivalentTo Glanders MONDO:8000034|MONDO:0015575|MONDO:0000001 disorder +MONDO:0971062 sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome Orphanet:659975 MONDO:equivalentTo Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome MONDO:0035863|MONDO:0015159|MONDO:8000032|MONDO:0019589|MONDO:8000034 disorder +MONDO:0971063 developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome Orphanet:660017 MONDO:equivalentTo Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome MONDO:0035862|MONDO:8000034|MONDO:0000001|MONDO:0018265 disorder +MONDO:0971064 orofacial clefting-cardiac anomalies-facial dysmorphism syndrome Orphanet:660021 MONDO:equivalentTo Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome MONDO:0035863|MONDO:8000032|MONDO:0015335|MONDO:0015159|MONDO:8000034 disorder +MONDO:0971065 psittacosis Orphanet:660053 MONDO:equivalentTo Psittacosis MONDO:0000001|MONDO:8000034|MONDO:0015575 disorder +MONDO:0971066 megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency Orphanet:661412 MONDO:equivalentTo Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency MONDO:0018035|MONDO:8000034|MONDO:0020111|MONDO:0000001|MONDO:0017313 disorder +MONDO:0971067 mbd4-related tumor predisposition syndrome Orphanet:661526 MONDO:equivalentTo MBD4-related tumor predisposition syndrome MONDO:8000034|MONDO:0015356|MONDO:0000001 disorder +MONDO:0971068 phelan-mcdermid syndrome due to 22q13.3 deletion Orphanet:662169 MONDO:equivalentTo Phelan-McDermid syndrome due to 22q13.3 deletion MONDO:0022760|MONDO:0011652|MONDO:8000031 subtype of a disorder +MONDO:0971069 phelan-mcdermid syndrome due to shank3 mutation Orphanet:662172 MONDO:equivalentTo Phelan-McDermid syndrome due to SHANK3 mutation MONDO:0011652|MONDO:8000031 subtype of a disorder +MONDO:0971070 macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome Orphanet:662175 MONDO:equivalentTo Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome MONDO:0035863|MONDO:8000032|MONDO:0015159|MONDO:8000034 disorder +MONDO:0971071 microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome Orphanet:662179 MONDO:equivalentTo Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome MONDO:0035863|MONDO:0015159|MONDO:0019589|MONDO:0017119|MONDO:8000032|MONDO:8000034 disorder +MONDO:0971072 congenital muscular dystrophy-cataract-intellectual disability syndrome Orphanet:662184 MONDO:equivalentTo Congenital muscular dystrophy-cataract-intellectual disability syndrome MONDO:0000001|MONDO:0020225|MONDO:0035862|MONDO:0019950|MONDO:8000034 disorder +MONDO:0971073 neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome Orphanet:662189 MONDO:equivalentTo Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome MONDO:8000032|MONDO:8000034|MONDO:0035863|MONDO:0017120|MONDO:0015159 disorder +MONDO:0971074 neurodevelopmental delay-intellectual disability-skeletal defects syndrome Orphanet:662198 MONDO:equivalentTo Neurodevelopmental delay-intellectual disability-skeletal defects syndrome MONDO:8000034|MONDO:8000032|MONDO:0035863|MONDO:0015159 disorder +MONDO:0971075 neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome Orphanet:662207 MONDO:equivalentTo Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome MONDO:8000034|MONDO:0035863|MONDO:0017120|MONDO:0015159|MONDO:8000032 disorder +MONDO:0971076 mucopolysaccharidosis type 10 Orphanet:662216 MONDO:equivalentTo Mucopolysaccharidosis type 10 MONDO:0019058|MONDO:0000001|MONDO:0800088|MONDO:0035862|MONDO:0019249|MONDO:8000034 disorder +MONDO:0971077 episodic memory defect leukoencephalopathy Orphanet:662229 MONDO:equivalentTo Episodic memory defect leukoencephalopathy MONDO:8000034|MONDO:0019046|MONDO:0000001 disorder +MONDO:0971078 neurodevelopmental delay-congenital heart defects-intellectual disability syndrome Orphanet:662234 MONDO:equivalentTo Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome MONDO:0035863|MONDO:8000034|MONDO:0015159|MONDO:8000032 disorder +MONDO:0971079 frey syndrome Orphanet:662240 MONDO:equivalentTo Frey syndrome MONDO:8000034|MONDO:0015923|MONDO:0032013 disorder +MONDO:0971080 grisel syndrome Orphanet:662255 MONDO:equivalentTo Grisel syndrome MONDO:0032013|MONDO:8000034|MONDO:0016434 disorder +MONDO:0971081 nescav syndrome Orphanet:662367 MONDO:equivalentTo NESCAV syndrome MONDO:0035862|MONDO:8000034|MONDO:0000001 disorder +MONDO:0971082 gastric duplication Orphanet:662376 MONDO:equivalentTo Gastric duplication MONDO:8000034|MONDO:8000030|MONDO:0015209 disorder +MONDO:0971083 gallbladder duplication Orphanet:662388 MONDO:equivalentTo Gallbladder duplication MONDO:0015213|MONDO:0015116|MONDO:8000034|MONDO:8000030 disorder +MONDO:0971084 colonic duplication Orphanet:662392 MONDO:equivalentTo Colonic duplication MONDO:0015211|MONDO:8000030|MONDO:8000034 disorder +MONDO:0971085 pyloric duplication Orphanet:662405 MONDO:equivalentTo Pyloric duplication MONDO:8000034|MONDO:8000030|MONDO:0015209 disorder +MONDO:0971086 small intestine duplication Orphanet:662456 MONDO:equivalentTo Small intestine duplication MONDO:8000030|MONDO:0015211|MONDO:8000034 disorder +MONDO:0971087 placenta accreta spectrum disorder Orphanet:662721 MONDO:equivalentTo Placenta accreta spectrum disorder MONDO:0000001|MONDO:0015582|MONDO:8000034 disorder +MONDO:0971088 motor delay-microcephaly-speech impairment-ocular abnormalities syndrome Orphanet:662762 MONDO:equivalentTo Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome MONDO:8000032|MONDO:8000034|MONDO:0017119|MONDO:0035863|MONDO:0015159 disorder +MONDO:0971089 vasa previa Orphanet:662786 MONDO:equivalentTo Vasa previa MONDO:0015582|MONDO:8000034|MONDO:0000001 disorder +MONDO:0971090 intellectual disability-speech delay-dysmorphic features-t cell abnormalities syndrome Orphanet:662829 MONDO:equivalentTo Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome MONDO:0015159|MONDO:0035863|MONDO:0000001|MONDO:8000034 disorder +MONDO:0971091 acute megakaryoblastic leukemia in adult Orphanet:662934 MONDO:equivalentTo Acute megakaryoblastic leukemia in adult MONDO:8000031|MONDO:0018872 subtype of a disorder +MONDO:0971092 soft and hard cleft palate Orphanet:664372 MONDO:equivalentTo Soft and hard cleft palate MONDO:0016064|MONDO:8000034|MONDO:8000030 disorder +MONDO:0971093 mgp-related spondyloepiphyseal dysplasia Orphanet:664377 MONDO:equivalentTo MGP-related spondyloepiphyseal dysplasia MONDO:0015329|MONDO:8000032|MONDO:0026187|MONDO:8000034 disorder +MONDO:0971094 cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to tab2 mutation Orphanet:664401 MONDO:equivalentTo Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation MONDO:8000031|MONDO:0016460 subtype of a disorder +MONDO:0971095 6q25.1 microdeletion syndrome Orphanet:664404 MONDO:equivalentTo 6q25.1 microdeletion syndrome MONDO:8000031|MONDO:0016905|MONDO:0016460 subtype of a disorder +MONDO:0971096 brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome Orphanet:664410 MONDO:equivalentTo Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome MONDO:8000034|MONDO:0017120|MONDO:0035863|MONDO:8000032|MONDO:0015159 disorder +MONDO:0971097 neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome Orphanet:664430 MONDO:equivalentTo Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome MONDO:8000032|MONDO:0035863|MONDO:0015159|MONDO:8000034 disorder +MONDO:0971098 gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome Orphanet:664438 MONDO:equivalentTo Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome MONDO:0015506|MONDO:0015336|MONDO:0026190|MONDO:0035863|MONDO:0015159|MONDO:8000032|MONDO:8000034 disorder +MONDO:0971099 inherited cancer-predisposing lymphoproliferative syndrome Orphanet:664450 MONDO:equivalentTo Inherited cancer-predisposing lymphoproliferative syndrome MONDO:8000033|MONDO:0015356 group of disorders +MONDO:0971100 immune dysregulation disease with immunodeficiency associated with ebv susceptibility Orphanet:664456 MONDO:equivalentTo Immune dysregulation disease with immunodeficiency associated with EBV susceptibility MONDO:8000033|MONDO:0015710 group of disorders +MONDO:0971101 hermansky-pudlak syndrome due to ap3b1 deficiency Orphanet:664500 MONDO:equivalentTo Hermansky-Pudlak syndrome due to AP3B1 deficiency Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia. MONDO:8000031|MONDO:0011997 subtype of a disorder +MONDO:0971102 early-onset severe hermansky-pudlak syndrome with hearing loss, due to ap3d1 deficiency Orphanet:664511 MONDO:equivalentTo Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency MONDO:8000031|MONDO:0011997 subtype of a disorder +MONDO:0971103 nicolau syndrome Orphanet:664787 MONDO:equivalentTo Nicolau syndrome MONDO:8000034|MONDO:0032013|MONDO:0019546 disorder +MONDO:0971104 trigeminal trophic syndrome Orphanet:664901 MONDO:equivalentTo Trigeminal trophic syndrome MONDO:8000034|MONDO:0016374|MONDO:0000001|MONDO:0019546 disorder +MONDO:0971105 neonatal renal venous thrombosis Orphanet:664912 MONDO:equivalentTo Neonatal renal venous thrombosis MONDO:8000034|MONDO:0000001|MONDO:0019750 disorder +MONDO:0971106 congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome Orphanet:664923 MONDO:equivalentTo Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome MONDO:0015168|MONDO:0015159|MONDO:0035863|MONDO:0000001|MONDO:8000034|MONDO:0017119 disorder +MONDO:0971107 common arterial trunk with aortic dominance Orphanet:665044 MONDO:equivalentTo Common arterial trunk with aortic dominance MONDO:8000031|MONDO:0018072 subtype of a disorder +MONDO:0971108 common arterial trunk with pulmonary dominance and interrupted aortic arch Orphanet:665058 MONDO:equivalentTo Common arterial trunk with pulmonary dominance and interrupted aortic arch MONDO:8000031|MONDO:0018072 subtype of a disorder +MONDO:0971109 isolated congenital femoral bifurcation Orphanet:667589 MONDO:equivalentTo Isolated congenital femoral bifurcation MONDO:8000034|MONDO:8000030|MONDO:0017420 disorder +MONDO:0971110 breast implant-associated anaplastic large cell lymphoma Orphanet:667662 MONDO:equivalentTo Breast implant-associated anaplastic large cell lymphoma MONDO:0000001|MONDO:0015760|MONDO:8000034 disorder +MONDO:0971111 intraoral basal cell carcinoma Orphanet:667678 MONDO:equivalentTo Intraoral basal cell carcinoma MONDO:0000001|MONDO:0017797|MONDO:8000034 disorder +MONDO:0971112 craniosynostosis-facial dysmorphism-brachydactyly syndrome Orphanet:672979 MONDO:equivalentTo Craniosynostosis-facial dysmorphism-brachydactyly syndrome MONDO:8000032|MONDO:0015338|MONDO:8000034 disorder +MONDO:0971113 craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome Orphanet:672985 MONDO:equivalentTo Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome MONDO:0015338|MONDO:8000032|MONDO:8000034 disorder +MONDO:0971114 malignant vascular tumor Orphanet:673466 MONDO:equivalentTo Malignant vascular tumor MONDO:8000033|MONDO:0016228 group of disorders +MONDO:0971115 benign vascular tumor Orphanet:673470 MONDO:equivalentTo Benign vascular tumor MONDO:8000033|MONDO:0016228 group of disorders +MONDO:0971116 borderline vascular tumor Orphanet:673473 MONDO:equivalentTo Borderline vascular tumor MONDO:8000033|MONDO:0016228 group of disorders +MONDO:0971117 classic pilocytic astrocytoma Orphanet:673580 MONDO:equivalentTo Classic pilocytic astrocytoma MONDO:8000031|MONDO:0016691 subtype of a disorder +MONDO:0971118 pilocytic astrocytoma with histological features of anaplasia Orphanet:673585 MONDO:equivalentTo Pilocytic astrocytoma with histological features of anaplasia MONDO:8000031|MONDO:0016691 subtype of a disorder +MONDO:0971119 proteoglycan-related bone disorder Orphanet:674499 MONDO:equivalentTo Proteoglycan-related bone disorder MONDO:8000033|MONDO:0031799 group of disorders +MONDO:0971120 syndrome with congenital phagocyte functional defect as a major feature Orphanet:674648 MONDO:equivalentTo Syndrome with congenital phagocyte functional defect as a major feature MONDO:8000033|MONDO:0015978 group of disorders +MONDO:0971121 early-onset autoinflammatory syndrome due to a20 haploinsufficiency Orphanet:674762 MONDO:equivalentTo Early-onset autoinflammatory syndrome due to A20 haploinsufficiency MONDO:0000001|MONDO:0017957|MONDO:8000034|MONDO:0017370|MONDO:0017369 disorder +MONDO:0971122 non-syndromic congenital phagocyte functional defect Orphanet:674896 MONDO:equivalentTo Non-syndromic congenital phagocyte functional defect MONDO:8000033|MONDO:0015978 group of disorders +MONDO:0971123 isolated retinal racemose hemangioma Orphanet:674924 MONDO:equivalentTo Isolated retinal racemose hemangioma MONDO:8000034|MONDO:0000001 disorder +MONDO:0971124 perifoveal exudative vascular anomalous complex Orphanet:674930 MONDO:equivalentTo Perifoveal exudative vascular anomalous complex MONDO:8000034|MONDO:0000001 disorder +MONDO:0971125 torpedo maculopathy Orphanet:674935 MONDO:equivalentTo Torpedo Maculopathy MONDO:0000001|MONDO:8000034 disorder +MONDO:0971126 isolated angioid streaks Orphanet:674943 MONDO:equivalentTo Isolated angioid streaks MONDO:8000034|MONDO:0000001 disorder +MONDO:0971127 diffuse unilateral subacute neuroretinitis Orphanet:674947 MONDO:equivalentTo Diffuse unilateral subacute neuroretinitis MONDO:0015577|MONDO:0000001|MONDO:8000034 disorder +MONDO:0971128 multiple evanescent white dot syndrome Orphanet:674953 MONDO:equivalentTo Multiple evanescent white dot syndrome MONDO:8000034|MONDO:0000001 disorder +MONDO:0971129 stellate multiform amelanotic choroidopathy Orphanet:674958 MONDO:equivalentTo Stellate multiform amelanotic choroidopathy MONDO:8000034|MONDO:0000001 disorder +MONDO:0971130 choroidal osteoma Orphanet:674965 MONDO:equivalentTo Choroidal osteoma MONDO:8000034|MONDO:0000001|MONDO:0015121 disorder +MONDO:0971131 bilateral diffuse uveal melanocytic proliferation disease Orphanet:674968 MONDO:equivalentTo Bilateral diffuse uveal melanocytic proliferation disease MONDO:8000034|MONDO:0000001 disorder +MONDO:0971132 spinocerebellar ataxia type 27b Orphanet:675216 MONDO:equivalentTo Spinocerebellar ataxia type 27B MONDO:0019792|MONDO:8000034|MONDO:0000001 disorder +MONDO:0971133 isolated segmental infantile hemangioma Orphanet:675380 MONDO:equivalentTo Isolated segmental infantile hemangioma MONDO:8000034|MONDO:0000001|MONDO:0016223 disorder +MONDO:0971134 may-thurner syndrome Orphanet:675404 MONDO:equivalentTo May-Thurner syndrome MONDO:8000034|MONDO:0024471|MONDO:0000001 disorder +MONDO:0971135 tlr8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome Orphanet:675628 MONDO:equivalentTo TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome MONDO:8000034|MONDO:0000001|MONDO:0018032|MONDO:0020083 disorder +MONDO:0971136 severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to srp54 deficiency Orphanet:675767 MONDO:equivalentTo Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency MONDO:0035862|MONDO:0018032|MONDO:8000034|MONDO:0000001 disorder +MONDO:0971137 severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome Orphanet:675775 MONDO:equivalentTo Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome MONDO:0015159|MONDO:0016404|MONDO:0035863|MONDO:0020076|MONDO:0000001|MONDO:8000034 disorder +MONDO:0971138 progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to fyve-defective rbsn Orphanet:675782 MONDO:equivalentTo Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN MONDO:8000034|MONDO:0017739|MONDO:0035863|MONDO:0000001|MONDO:0015159 disorder +MONDO:0971139 adenomatoid tumour of the pleura Orphanet:675814 MONDO:equivalentTo Adenomatoid tumour of the pleura MONDO:8000034|MONDO:0000001|MONDO:0015119 disorder +MONDO:0971140 well-differentiated papillary mesothelial tumour of the pleura Orphanet:675822 MONDO:equivalentTo Well-differentiated papillary mesothelial tumour of the pleura MONDO:8000034|MONDO:0000001|MONDO:0015119 disorder +MONDO:0971141 localized pleural mesothelioma Orphanet:675833 MONDO:equivalentTo Localized pleural mesothelioma MONDO:8000031|MONDO:0006292 subtype of a disorder +MONDO:0971142 diffused pleural mesothelioma Orphanet:675837 MONDO:equivalentTo Diffused pleural mesothelioma MONDO:8000031|MONDO:0006292 subtype of a disorder +MONDO:0971143 pleural mesothelioma in situ Orphanet:675841 MONDO:equivalentTo Pleural mesothelioma in situ MONDO:8000031|MONDO:0006292 subtype of a disorder +MONDO:0971144 primary benign peritoneal tumor Orphanet:676030 MONDO:equivalentTo Primary benign peritoneal tumor MONDO:8000033|MONDO:0015682 group of disorders +MONDO:0971145 peritoneal mesothelioma in situ Orphanet:676036 MONDO:equivalentTo Peritoneal mesothelioma in situ MONDO:8000034|MONDO:0000001|MONDO:0015683 disorder +MONDO:0971146 combined immunodeficiency due to foxn1 haploinsufficiency Orphanet:676039 MONDO:equivalentTo Combined immunodeficiency due to FOXN1 haploinsufficiency MONDO:8000034|MONDO:0018814|MONDO:0000001 disorder +MONDO:0971147 x-linked immune dysregulation with inflammatory bowel disease due to elf4 deficiency Orphanet:676125 MONDO:equivalentTo X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency MONDO:8000034|MONDO:0017957|MONDO:0000001|MONDO:0033967 disorder diff --git a/src/ontology/unmapped/doid-unmapped.owl b/src/ontology/unmapped/doid-unmapped.owl index 3027ff72..2849492f 100644 --- a/src/ontology/unmapped/doid-unmapped.owl +++ b/src/ontology/unmapped/doid-unmapped.owl @@ -33,153 +33,147 @@ - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - + - - - - - - - + diff --git a/src/ontology/unmapped/omim-unmapped.owl b/src/ontology/unmapped/omim-unmapped.owl index b6de336d..4b713f93 100644 --- a/src/ontology/unmapped/omim-unmapped.owl +++ b/src/ontology/unmapped/omim-unmapped.owl @@ -2829,12 +2829,6 @@ - - - - - - @@ -4923,12 +4917,6 @@ - - - - - - @@ -7551,12 +7539,6 @@ - - - - - - @@ -20387,36 +20369,6 @@ - - - - - - - - - - - - - - - - - - - - - - MMP1 - collagenase, fibroblast - collagenase, interstitial - matrix metalloproteinase 1 - MMP1 - - - - @@ -29806,7 +29758,7 @@ - + @@ -45686,30 +45638,6 @@ - - - - - - - - - - - - - - - - NUMA1 - nuclear mitotic apparatus protein 1 - numa1/rara fusion gene - This term has one or more labels that end with ', INCLUDED'. - NUMA1 - - - - @@ -56509,12 +56437,6 @@ - - - - - - @@ -56527,12 +56449,6 @@ - - - - - - @@ -58986,7 +58902,7 @@ craniosynostosis, philadelphia type sd1 syndactyly, type 1 - zygodactyly + zygodactyly 2 This term has one or more labels that end with ', INCLUDED'. chromosome 2q35 duplication syndrome @@ -60310,10 +60226,16 @@ - + + + + + + + THBS2 thrombospondin 2 tsp2 @@ -63897,12 +63819,6 @@ - - - - - - @@ -74987,7 +74903,7 @@ - cerebroosteonephosis syndrome + cerebroosteonephrosis syndrome cond hutterite cerebroosteonephrodysplasia syndrome hutterite cerebroosteonephrodysplasia syndrome @@ -98774,6 +98690,7 @@ MRXSBA basilicata-akhtar syndrome + intellectual developmental disorder, x-linked, syndromic, 36 mental retardation, x-linked, syndromic 36 mental retardation, x-linked, syndromic, basilicata-akhtar type basilicata-akhtar syndrome @@ -133777,13 +133694,11 @@ SLC22A18 beckwith-wiedemann region 1a beckwith-wiedemann syndrome chromosome region 1, candidate a - beckwith-wiedemann syndrome critical region imprinted polyspecific membrane transporter 1 organic-cation transporter-like 2 solute carrier family 22 (organic cation transporter), member 1-like solute carrier family 22 (organic cation transporter), member 18 tumor-suppressing subchromosomal transferable fragment candidate gene 5 - This term has one or more labels that end with ', INCLUDED'. SLC22A18 @@ -145411,12 +145326,6 @@ - - - - - - @@ -148420,10 +148329,12 @@ + PRTAO + proximal renal tubular acidosis-ocular anomaly syndrome renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development renal tubular acidosis, proximal, with ocular abnormalities and mental retardation rta, proximal, autosomal recessive - renal tubular acidosis, proximal, with ocular abnormalities and impaired intellectual development + proximal renal tubular acidosis-ocular anomaly syndrome @@ -154400,6 +154311,29 @@ + + + + + + + + + + + + + + + + WBP4 + formin-binding protein 21 + ww domain-containing binding protein 4 + WBP4 + + + + @@ -191957,12 +191891,6 @@ - - - - - - PSHK2 cryohydrocytosis, mild pseudohyperkalemia cardiff @@ -199780,12 +199708,6 @@ - - - - - - MPD3 myopathy, distal, 3 myopathy, distal, 3 @@ -206961,12 +206883,6 @@ - - - - - - @@ -209574,12 +209490,6 @@ - - - - - - MGS mungan syndrome pseudoobstruction, chronic idiopathic intestinal, with barrett esophagus and cardiac abnormalities @@ -217507,12 +217417,6 @@ - - - - - - APL acute promyelocytic leukemia leukemia, acute promyelocytic @@ -223705,12 +223609,16 @@ + + + + + + EIG10 epilepsy, idiopathic generalized, susceptibility to, 10 - epilepsy, juvenile myoclonic, susceptibility to, 7 gefs+, type 5, susceptibility to gefs+5, susceptibility to - gefsp5, susceptibility to generalized epilepsy with febrile seizures plus, type 5, susceptibility to This term has one or more labels that end with ', INCLUDED'. epilepsy, idiopathic generalized, susceptibility to, 10 @@ -235882,12 +235790,6 @@ - - - - - - @@ -296035,6 +295937,33 @@ + + + + + + + + + + NEDHFDB + neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities + neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities + + + + + + + + + EDSCLL3 + ehlers-danlos syndrome, classic-like, 3 + ehlers-danlos syndrome, classic-like, 3 + + + + diff --git a/src/ontology/unmapped/ordo-unmapped.owl b/src/ontology/unmapped/ordo-unmapped.owl index a2e644a8..08d1b45c 100644 --- a/src/ontology/unmapped/ordo-unmapped.owl +++ b/src/ontology/unmapped/ordo-unmapped.owl @@ -277,6 +277,12 @@ + + + + + + @@ -337,6 +343,12 @@ + + + + + + @@ -1807,6 +1819,12 @@ + + + + + + @@ -2797,6 +2815,12 @@ + + + + + + @@ -3313,6 +3337,12 @@ + + + + + + @@ -3781,6 +3811,12 @@ + + + + + + @@ -3937,6 +3973,12 @@ + + + + + + @@ -4351,6 +4393,12 @@ + + + + + + @@ -4525,6 +4573,12 @@ + + + + + + @@ -4735,6 +4789,12 @@ + + + + + + @@ -4915,6 +4975,12 @@ + + + + + + @@ -5413,6 +5479,12 @@ + + + + + + @@ -5545,6 +5617,12 @@ + + + + + + @@ -6121,6 +6199,12 @@ + + + + + + @@ -6385,24 +6469,12 @@ - - - - - - - - - - - - @@ -7057,6 +7129,12 @@ + + + + + + @@ -7069,6 +7147,12 @@ + + + + + + @@ -7627,6 +7711,12 @@ + + + + + + @@ -8077,6 +8167,12 @@ + + + + + + @@ -8095,6 +8191,12 @@ + + + + + + @@ -8755,6 +8857,12 @@ + + + + + + @@ -8809,6 +8917,12 @@ + + + + + + @@ -9961,12 +10075,6 @@ - - - - - - @@ -10027,6 +10135,12 @@ + + + + + + @@ -10639,6 +10753,12 @@ + + + + + + @@ -11053,6 +11173,12 @@ + + + + + + @@ -11641,6 +11767,12 @@ + + + + + + @@ -12121,12 +12253,6 @@ - - - - - - @@ -12463,6 +12589,12 @@ + + + + + + @@ -13543,6 +13675,12 @@ + + + + + + @@ -14011,6 +14149,12 @@ + + + + + + @@ -15043,6 +15187,12 @@ + + + + + + @@ -16585,12 +16735,6 @@ - - - - - - @@ -18451,18 +18595,42 @@ + + + + + + + + + + + + + + + + + + + + + + + + @@ -18721,6 +18889,12 @@ + + + + + + @@ -18901,6 +19075,12 @@ + + + + + + @@ -19423,6 +19603,12 @@ + + + + + + @@ -19897,6 +20083,12 @@ + + + + + + @@ -20263,6 +20455,12 @@ + + + + + + @@ -20593,6 +20791,12 @@ + + + + + + @@ -20641,6 +20845,12 @@ + + + + + + @@ -20977,6 +21187,12 @@ + + + + + + @@ -21163,6 +21379,12 @@ + + + + + + @@ -22285,6 +22507,12 @@ + + + + + + @@ -22297,6 +22525,12 @@ + + + + + + @@ -23239,6 +23473,12 @@ + + + + + + @@ -24049,6 +24289,12 @@ + + + + + + @@ -24406,7 +24652,7 @@ - A form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder. + A rare form of lissencephaly with cerebellar hypoplasia characterized by subtle microcephaly, hypotonia and neurological and cognitive development delay. Hippocampal malformation is a characteristic imaging feature of this disorder. ICD-10:Q04.3 ICD-11:LD20.1 ICD10:Q04.3 @@ -24440,7 +24686,7 @@ - A form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (&#8804; -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. + A rare form of lissencephaly with cerebellar hypoplasia characterized by pronounced microcephaly (&#8804; -3 SD), intellectual disability, spastic diplegia and moderate to severe cerebellar hypoplasia involving both vermis and hemispheres. ICD-10:Q04.3 ICD-11:LD20.1 ICD10:Q04.3 @@ -24502,8 +24748,10 @@ ICD10:D46.2 ICD11:2A35 UMLS:C1318550 + MDS-IB1 RAEB-1 - Refractory anemia with excess blasts type 1 + Refractory anemia with excess blasts type 1 + Myelodysplastic neoplasm with increased blasts type 1 @@ -24525,8 +24773,10 @@ ICD10:D46.2 ICD11:2A35 UMLS:C1318551 + MDS-IB2 RAEB-2 - Refractory anemia with excess blasts type 2 + Refractory anemia with excess blasts type 2 + Myelodysplastic neoplasm with increased blasts type 2 @@ -24554,6 +24804,7 @@ ICD-11:2A83.2 ICD10:C90.2 ICD11:2A83.2 + UMLS:C2211567 Extramedullary soft tissue plasmacytoma @@ -24643,6 +24894,12 @@ + + + + + + @@ -24838,8 +25095,6 @@ - ICD-10:D58.8 - ICD10:D58.8 OMIM:177720 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Dehydrated hereditary stomatocytosis Familial pseudohyperkalemia type 1 @@ -25081,7 +25336,7 @@ - Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway. + A rare hereditary angioedema characterized by normal serum levels and function of C1 inhibitor, normal C1 activity, and, clinically, recurrent subcutaneous edema, abdominal pain attacks, and episodes of potentially life-threatening upper airway obstruction. The disorder occurs almost exclusively in women, and episodes are often precipitated or worsened by high estrogen levels (such as during pregnancy or treatment with oral contraceptives). ICD-10:T78.3 ICD-11:4A00.14 ICD10:T78.3 @@ -25179,7 +25434,6 @@ MESH:D014884 MeSH:D014884 MedDRA:10047847 - UMLS:C0043068 Waterhouse-Friderichsen syndrome @@ -25255,7 +25509,9 @@ Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities. ICD-10:Q92.1 + ICD-11:LD40.Y ICD10:Q92.1 + ICD11:LD40.Y UMLS:C4707012 Mosaic trisomy chromosome 3 Trisomy 3 mosaicism @@ -25650,6 +25906,7 @@ MESH:D013953 MeSH:D013953 + MedDRA:10056296 UMLS:C3714644 Thymic tumor @@ -25673,16 +25930,16 @@ ICD-10:G44.0 ICD10:G44.0 - Ciliary neuralgia - Cluster migraine - Erythromelalgia of the head - Erythroprosopalgia of Bing - Histamine cephalalgia - Histamine headache - Histaminic cephalalgia - Horton headache - Migrainous neuralgia - Red migraine + NON RARE IN EUROPE: Ciliary neuralgia + NON RARE IN EUROPE: Cluster migraine + NON RARE IN EUROPE: Erythromelalgia of the head + NON RARE IN EUROPE: Erythroprosopalgia of Bing + NON RARE IN EUROPE: Histamine cephalalgia + NON RARE IN EUROPE: Histamine headache + NON RARE IN EUROPE: Histaminic cephalalgia + NON RARE IN EUROPE: Horton headache + NON RARE IN EUROPE: Migrainous neuralgia + NON RARE IN EUROPE: Red migraine This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Cluster headache true @@ -25754,8 +26011,6 @@ - ICD-10:A54.9 - ICD10:A54.9 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Gonorrhea true @@ -25798,7 +26053,7 @@ - A rare malignant small round cell bone tumor with strong metastatic potential. + A rare acute hepatic porphyria characterized by neurovisceral attacks without skin symptoms. ICD-10:E80.2 ICD-11:5C58.1Y ICD10:E80.2 @@ -26004,6 +26259,8 @@ MeSH:C536864 OMIM:182600 UMLS:C2931355 + Autosomal dominant spastic paraplegia type 3A + SPG3A Strümpell disease Autosomal dominant spastic paraplegia type 3 @@ -26108,6 +26365,8 @@ ICD-11:8B44.00 ICD10:G11.4 ICD11:8B44.00 + MESH:C580458 + MeSH:C580458 OMIM:603563 UMLS:C1863704 SPG8 @@ -26120,7 +26379,7 @@ - SPG9 + OBSOLETE: SPG9 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autosomal dominant complex spastic paraplegia OBSOLETE: Autosomal dominant spastic paraplegia type 9 true @@ -26872,9 +27131,6 @@ - ICD-10:D69.1 - ICD10:D69.1 - OMIM:210250 UMLS:C0272281 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Sitosterolemia Mediterranean macrothrombocytopenia @@ -27223,6 +27479,12 @@ + + + + + + @@ -27330,7 +27592,7 @@ - X-linked Charcot-Marie-Tooth disease type 1 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and the childhood-onset (within the first decade in males) of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and central nervous system involvement have also been reported. + A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked dominant inheritance pattern and adolescence onset in males of progressive, distal, moderate to severe muscle weakness and atrophy in lower extremities and intrinsic hand muscles, pes cavus, bilateral foot drop, reduced or absent tendon reflexes, as well as mild to moderate sensory impairment in lower extremities. Females tend to have milder manifestations or may be asymptomatic. Sensorineural deafness and (often transient) central nervous system involvement have also been reported. ICD-10:G60.0 ICD-11:8C20.0 ICD10:G60.0 @@ -27352,7 +27614,7 @@ - X-linked Charcot-Marie-Tooth disease type 2 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile- to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals. + A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infantile-to childhood-onset of progressive, distal muscle weakness and atrophy (more prominent in the lower extremities than in the upper extremities), pes cavus, and absent tendon reflexes. Sensory impairment and intellectual disability has been reported in some individuals. ICD-10:G60.0 ICD-11:LD90.Y ICD10:G60.0 @@ -27373,7 +27635,7 @@ - X-linked Charcot-Marie-Tooth disease type 3 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood- to adolescent-onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. Spastic paraparesis (manifested by clasp-knife sign, hyperactive deep-tendon reflexes, and Babinski sign) has also been reported. + A rare genetic peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the childhood onset of progressive, distal muscle weakness and atrophy (beginning in the lower extremities and then affecting the upper extremities), as well as distal, pansensory loss in the upper and lower extremities, pes cavus, and absent or reduced distal tendon reflexes. Pain and paresthesia are frequently the initial sensory symptoms. ICD-10:G60.0 ICD-11:LD90.Y ICD10:G60.0 @@ -27401,7 +27663,7 @@ - X-linked Charcot-Marie-Tooth disease type 4 is a rare, genetic, axonal, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype. + A rare genetic, axonal, peripheral sensorimotor neuropathy, characterized by an X-linked recessive inheritance pattern and the neonatal- to early childhood-onset of severe, slowly progressive, distal muscle weakness and atrophy (in particular of the peroneal group), as well as sensory impairment (with the lower extremities being more affected than the upper extremities), pes cavus, areflexia and hammertoes. Sensorineural hearing loss and cognitive impairment may also be associated. Females are asymptomatic and do not display the phenotype. ICD-10:G60.0 ICD-11:LD90.Y ICD10:G60.0 @@ -27675,14 +27937,10 @@ - - - - ICD-10:D46.7 - ICD10:D46.7 - MedDRA:10054329 - UMLS:C0553669 - Aregenerative anemia + + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Myelodysplastic syndrome + OBSOLETE: Aregenerative anemia + true @@ -27815,11 +28073,8 @@ - ICD-10:G11.2 - ICD10:G11.2 MESH:C542540 MeSH:C542540 - OMIM:607346 UMLS:C2746067 SCA22 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spinocerebellar ataxia type 19/22 @@ -28013,8 +28268,6 @@ - ICD-10:G24.1 - ICD10:G24.1 DYT14 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant dopa-responsive dystonia Dystonia 14 @@ -28046,8 +28299,8 @@ - - Porphyria cutanea tarda (PCT) is the most common form of chronic hepatic porphyria (see this term). It is characterized by bullous photodermatitis. + + A rare hepatic porphyria with cutaneous expression (PCT) characterized by bullous photodermatosis. ICD-10:E80.1 ICD-11:5C58.10 ICD10:E80.1 @@ -28096,7 +28349,7 @@ - Kenya tick-bite fever + OBSOLETE: Kenya tick-bite fever This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Boutonneuse fever OBSOLETE: Kenya tick typhus true @@ -28247,6 +28500,7 @@ ICD11:LD2H.Y OMIM:150700 OMIM:308940 + UMLS:C4511693 Xq22.3 microdeletion syndrome X-linked Alport syndrome-diffuse leiomyomatosis @@ -28257,9 +28511,6 @@ - ICD-10:D69.4 - ICD10:D69.4 - OMIM:155100 UMLS:C0398641 Alport syndrome with macrothrombocytopenia This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MYH9-related disease @@ -28395,7 +28646,7 @@ UMLS:C5681795 - Rare bronchopulmonary tumor + Rare bronchopulmonary and pleural cavity tumors @@ -28626,7 +28877,8 @@ ICD-11:4B00.00 ICD10:D70 ICD11:4B00.00 - Constitutional neutropenia + Constitutional neutropenia + Congenital neutropenia @@ -28844,6 +29096,12 @@ + + + + + + ICD-11:LD20.1 ICD11:LD20.1 UMLS:C0431375 @@ -28904,6 +29162,7 @@ + UMLS:C0393556 Complex HSP Complex SPG Complex familial spastic paraplegia @@ -29028,7 +29287,7 @@ - Cholestatic hepatic amyloidosis + OBSOLETE: Cholestatic hepatic amyloidosis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary localized amyloidosis OBSOLETE: Hepatic amyloidosis with intrahepatic cholestasis true @@ -29086,8 +29345,8 @@ - MCA/variable MR - Multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome + OBSOLETE: MCA/variable MR + OBSOLETE: Multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome true @@ -29300,9 +29559,9 @@ - ADAM syndrome - Amniotic deformity-adhesion-mutilation syndrome - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Terminal transverse limb defect + OBSOLETE: ADAM syndrome + OBSOLETE: Amniotic deformity-adhesion-mutilation syndrome + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Non-syndromic terminal transverse limb defect OBSOLETE: Amniotic bands true @@ -29340,7 +29599,6 @@ ICD10:Q74.3 ICD11:LD26.41 MedDRA:10051643 - UMLS:C0003886 AMC Multiple congenital arthrogryposis Arthrogryposis multiplex congenita @@ -29451,6 +29709,7 @@ + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare inflammatory bowel disease OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome true @@ -29461,8 +29720,8 @@ - IPSID - Mediterranean lymphoma + OBSOLETE: IPSID + OBSOLETE: Mediterranean lymphoma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Alpha-heavy chain disease OBSOLETE: Immunoproliferative small intestinal disease true @@ -30136,7 +30395,6 @@ MESH:C536535 MeSH:C536535 MedDRA:10077889 - OMIM:618196 UMLS:C0431420 Vein of Galen arteriovenous malformations Vein of Galen aneurysmal malformation @@ -30251,11 +30509,11 @@ - + A rare genetic vascular anomaly characterized by the presence of angiomatous lesions affecting the skin, brain, and spinal cord. Lesions of the central nervous system have a marked tendency to bleed. There have been no further descriptions in the literature since 1988. ICD-10:D18.0 @@ -30274,10 +30532,10 @@ - + @@ -30528,10 +30786,8 @@ A rare, syndromic, developmental defect of the eye malformation characterized by unilateral or bilateral, single or multiple, filiforme bands of elastic tissue which connect the eyelid margins at the grey line, associated with cleft lip and palate. Eye examination is otherwise normal. ICD-10:Q87.0 - ICD-11:LD27.0Y ICD-11:LD2F.1Y ICD10:Q87.0 - ICD11:LD27.0Y ICD11:LD2F.1Y OMIM:106250 UMLS:C1862866 @@ -30550,6 +30806,7 @@ ICD-11:LD27.0Y ICD10:Q87.8 ICD11:LD27.0Y + UMLS:C4751231 Aughton-Hufnagle syndrome Ankyloblepharon filiforme adnatum-imperforate anus syndrome @@ -30677,7 +30934,7 @@ - Rommen-Mueller-Sybert syndrome + OBSOLETE: Rommen-Mueller-Sybert syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Short stature-heart defect-craniofacial anomalies syndrome true @@ -31859,10 +32116,10 @@ - Arnold-Chiari malformation type 2 - Chiari malformation type 2 - Chiari malformation type II - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Open spinal dysraphism with myelomeningocele + OBSOLETE: Arnold-Chiari malformation type 2 + OBSOLETE: Chiari malformation type 2 + OBSOLETE: Chiari malformation type II + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Open spinal dysraphism with a myelomeningocele OBSOLETE: Arnold-Chiari malformation type II true @@ -31873,7 +32130,7 @@ - Kashani-Strom-Utley syndrome + OBSOLETE: Kashani-Strom-Utley syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome without intellectual disability OBSOLETE: Pulmonary aortic stenosis obstructive uropathy true @@ -31888,6 +32145,7 @@ ICD-11:LA8B.1 ICD11:LA8B.1 + UMLS:C0265912 Abnormal origin of the pulmonary artery @@ -33201,12 +33459,12 @@ ICD-10:D51.0 ICD10:D51.0 - Acquired pernicious anemia - Addison-Biermer anemia - Addisonian anemia - Biermer anemia - Biermer disease - Juvenile onset pernicious anemia + NON RARE IN EUROPE: Acquired pernicious anemia + NON RARE IN EUROPE: Addison-Biermer anemia + NON RARE IN EUROPE: Addisonian anemia + NON RARE IN EUROPE: Biermer anemia + NON RARE IN EUROPE: Biermer disease + NON RARE IN EUROPE: Juvenile onset pernicious anemia This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Pernicious anemia true @@ -33549,13 +33807,19 @@ + + + + + + - A rare inherited cancer-predisposing syndrome characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. + A rare inherited cancer-predisposing syndrome characterized by skin lesions, benign and malignant kidney tumors, and pulmonary cysts that may be associated with pneumothorax. ICD-10:C44.9 ICD-11:LD27.5 ICD10:C44.9 @@ -33565,7 +33829,6 @@ MedDRA:10067736 OMIM:135150 UMLS:C0346010 - Fibrofolliculomas with trichodiscomas and acrochordons Hornstein-Knickenberg syndrome Birt-Hogg-Dubé syndrome @@ -33854,7 +34117,7 @@ - Basan syndrome + OBSOLETE: Basan syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Absence of fingerprints-congenital milia syndrome OBSOLETE: Ectodermal dysplasia-absent dermatoglyphs syndrome true @@ -33902,10 +34165,23 @@ - - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndromic hereditary optic neuropathy - OBSOLETE: Behr syndrome - true + + + + + + + + + + + + + ICD-10:H47.2 + ICD10:H47.2 + OMIM:210000 + UMLS:C0221061 + Behr syndrome @@ -34098,22 +34374,16 @@ - - - - - - ICD-10:Q78.5 - ICD-11:LD24.7 - ICD10:Q78.5 - ICD11:LD24.7 + MESH:C537350 MeSH:C537350 OMIM:250215 UMLS:C1855243 Bellini syndrome Intellectual disability-short stature-wedge-shaped epiphyses of knees syndrome + This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Acrodysostosis Metaphyseal acroscyphodysplasia + true @@ -34175,8 +34445,6 @@ - ICD-10:Q23.1 - ICD10:Q23.1 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Bicuspid aortic valve true @@ -34268,7 +34536,7 @@ - Binder syndrome is a rare developmental anomaly, affecting primarily the anterior part of the maxilla and nasal complex. + A rare developmental anomaly characterized by midfacial hypoplasia affecting primarily the anterior part of the maxilla (premaxilla) and the nasal complex. ICD-10:Q75.8 ICD-11:LD2H.Y ICD10:Q75.8 @@ -34335,7 +34603,7 @@ - Tracheo-esophageal fistula-symphalangism syndrome + OBSOLETE: Tracheo-esophageal fistula-symphalangism syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome without intellectual disability OBSOLETE: Blaichman syndrome true @@ -34407,7 +34675,7 @@ - Jorgenson-Lenz syndrome + OBSOLETE: Jorgenson-Lenz syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndrome with synostosis or other joint formation defect OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome true @@ -34419,7 +34687,7 @@ - Rodini-Richieri Costa syndrome + OBSOLETE: Rodini-Richieri Costa syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome without intellectual disability OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome true @@ -34577,9 +34845,6 @@ - ICD-10:Q87.8 - ICD10:Q87.8 - OMIM:249420 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Frank-Ter Haar syndrome Dermato-cardio-skeletal syndrome, Borrone type true @@ -34705,7 +34970,6 @@ MESH:C537933 MeSH:C537933 OMIM:601088 - OMIM:601353 UMLS:C0795941 Brachycephaly-deafness-cataract-intellectual disability syndrome Brachycephaly-hearing loss-cataract-intellectual disability syndrome @@ -34999,7 +35263,7 @@ - 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases. + A rare form of hyperphenylalaninemia due to tetrahydropterin (BH4) biosynthesis deficiency, leading to central dopamine and serotonin deficiency, and characterized by infantile-onset neurological disease of variable severity ranging from mild forms with normal neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism. ICD-10:E70.1 ICD-11:5C59.01 ICD10:E70.1 @@ -35234,9 +35498,7 @@ - ICD-11:EC4Y - ICD11:EC4Y - Disseminated dermatofibrosis with osteopoikilosis + NON RARE IN EUROPE: Disseminated dermatofibrosis with osteopoikilosis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Buschke-Ollendorff syndrome true @@ -35449,6 +35711,7 @@ MeSH:C537966 OMIM:211890 UMLS:C1859371 + Cumming syndrome Campomelia, Cumming type @@ -35534,7 +35797,6 @@ MESH:C537287 MeSH:C537287 OMIM:211930 - UMLS:C1859357 Goodman camptodactyly Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome @@ -35948,7 +36210,7 @@ - Grosse syndrome + OBSOLETE: Grosse syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome without intellectual disability OBSOLETE: Cranioacrofacial syndrome true @@ -36314,7 +36576,7 @@ - Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas. + A rare endocrine disease characterized by lentigines with a specific peri-orifical distribution, blue nevus, myxomas, various endocrine tumors including primary pigmented nodular adrenocortical disease (PPNAD), acromegaly, thyroid tumors, and a wide range of other tumors. ICD-10:D44.8 ICD-11:5A70.Y ICD10:D44.8 @@ -36599,8 +36861,8 @@ - HSV keratitis - Herpetic keratitis + OBSOLETE: HSV keratitis + OBSOLETE: Herpetic keratitis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Infective keratitis OBSOLETE: Herpes simplex virus keratitis true @@ -36908,8 +37170,6 @@ - ICD-10:Q87.8 - ICD10:Q87.8 Kelly-Kirson-Wyatt syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Jawad syndrome Microcephaly-digital anomalies-intellectual disability syndrome @@ -36922,8 +37182,6 @@ - ICD-10:Q87.8 - ICD10:Q87.8 OMIM:615236 Woods-Crouchman-Huson syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Filippi syndrome @@ -36962,6 +37220,7 @@ MESH:C564254 MeSH:C564254 OMIM:608354 + OMIM:618196 UMLS:C1842180 CM-AVM Capillary malformation-arteriovenous malformation @@ -37195,7 +37454,7 @@ UMLS:C1835922 ACY1D N-acyl-L-amino acid amidohydrolase deficiency - Neurological conditions associated with aminoacylase 1 deficiency + Aminoacylase 1 deficiency @@ -37491,8 +37750,6 @@ - ICD-10:Q45.8 - ICD10:Q45.8 OMIM:601346 UMLS:C1832443 Duodenal and extrahepatic biliary atresia-hypoplastic pancreas-intestinal malrotation syndrome @@ -37525,7 +37782,7 @@ - Laminopathy with severe metabolic syndrome and myopathy + OBSOLETE: Laminopathy with severe metabolic syndrome and myopathy This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial partial lipodystrophy, Dunnigan type OBSOLETE: Laminopathy type Decaudain-Vigouroux true @@ -37733,8 +37990,6 @@ - ICD-10:F84.8 - ICD10:F84.8 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Sturge-Weber syndrome Autism-facial port-wine stain syndrome true @@ -37789,6 +38044,7 @@ ICD-11:LA70.2 ICD10:Q30.0 ICD11:LA70.2 + UMLS:C4025317 Choanal atresia, bilateral @@ -37866,7 +38122,8 @@ ICD-10:D18.0 ICD10:D18.0 UMLS:C3839574 - Laryngotracheal angioma + Laryngotracheal angioma + Airway infantile hemangioma @@ -38013,7 +38270,7 @@ - Syndrome associated with Pierre Robin sequence + OBSOLETE: Syndrome associated with Pierre Robin sequence This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare disease with Pierre Robin syndrome OBSOLETE: Syndrome associated with Pierre Robin syndrome true @@ -38025,7 +38282,7 @@ - Pierre Robin sequence associated with miscellaneous anomalies + OBSOLETE: Pierre Robin sequence associated with miscellaneous anomalies This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare disease with Pierre Robin syndrome OBSOLETE: Pierre Robin syndrome associated with miscellaneous anomalies true @@ -38037,7 +38294,7 @@ - Sucking/swallowing disorder not related with Pierre Robin sequence + OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin sequence OBSOLETE: Sucking/swallowing disorder not related with Pierre Robin syndrome true @@ -38541,9 +38798,9 @@ - NADH-cytochrome b5reductase deficiency type 1 - NADH-diaphorase deficiency type 1 - Recessive congenital methemoglobinemia type 1 + OBSOLETE: NADH-cytochrome b5reductase deficiency type 1 + OBSOLETE: NADH-diaphorase deficiency type 1 + OBSOLETE: Recessive congenital methemoglobinemia type 1 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Hereditary methemoglobinemia OBSOLETE: Recessive hereditary methemoglobinemia type 1 true @@ -38555,9 +38812,9 @@ - NADH-cytochrome b5reductase deficiency type 2 - NADH-diaphorase deficiency type 2 - Recessive congenital methemoglobinemia type 2 + OBSOLETE: NADH-cytochrome b5reductase deficiency type 2 + OBSOLETE: NADH-diaphorase deficiency type 2 + OBSOLETE: Recessive congenital methemoglobinemia type 2 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Hereditary methemoglobinemia OBSOLETE: Recessive hereditary methemoglobinemia type 2 true @@ -38605,6 +38862,7 @@ ICD10:E71.3 ICD11:5C57.1 OMIM:300100 + UMLS:C2026514 X-CALD X-linked cerebral adrenoleukodystrophy @@ -38768,7 +39026,7 @@ - Disease-associated transverse myelitis + OBSOLETE: Disease-associated transverse myelitis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Acute transverse myelitis OBSOLETE: Secondary acute transverse myelitis true @@ -39056,9 +39314,6 @@ - ICD-10:E77.8 - ICD10:E77.8 - OMIM:612379 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to SRD5A3-CDG Al-Gazali-Dattani syndrome true @@ -39134,9 +39389,9 @@ - Autosomal dominant hereditary hemochromatosis - Ferroportin disease - Hemochromatosis due to defect in ferroportin + OBSOLETE: Autosomal dominant hereditary hemochromatosis + OBSOLETE: Ferroportin disease + OBSOLETE: Hemochromatosis due to defect in ferroportin This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using SLC40A1-related hemochromatosis OBSOLETE: Hemochromatosis type 4 true @@ -39148,11 +39403,9 @@ - ICD-10:E83.1 - ICD10:E83.1 - C282Y/C282Y hemochromatosis - Classic hemochromatosis - HFE-related hemochromatosis + NON RARE IN EUROPE: C282Y/C282Y hemochromatosis + NON RARE IN EUROPE: Classic hemochromatosis + NON RARE IN EUROPE: HFE-related hemochromatosis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Hemochromatosis type 1 true @@ -39174,6 +39427,7 @@ ICD11:5C64.10 MESH:C537904 MeSH:C537904 + MedDRA:10083862 OMIM:601195 UMLS:C0268063 African iron overload @@ -39657,6 +39911,7 @@ ICD11:5C81.1 MESH:D000012 MeSH:D000012 + MedDRA:10083851 OMIM:200100 OMIM:605019 OMIM:615558 @@ -39782,7 +40037,7 @@ - + @@ -39810,7 +40065,7 @@ - HMSN + OBSOLETE: HMSN This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy OBSOLETE: Hereditary motor and sensory neuropathy true @@ -40297,7 +40552,7 @@ - CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi. + A rare developmental defect during embryogenesis characterized by congenital lipomatous overgrowth, complex and progressive combined vascular malformations affecting the trunk, and epidermal nevi. ICD-10:Q87.3 ICD-11:LD2C ICD10:Q87.3 @@ -40968,7 +41223,7 @@ - Polyrrhinia is an extremely rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair. + A rare, major congenital malformation characterized by complete duplication of the nose resulting in twofully developed noses often associated with choanal atresia, causing respiratory distress and necessitating surgical repair. ICD-10:Q30.8 ICD-11:LA70 ICD10:Q30.8 @@ -41074,11 +41329,15 @@ - + + Nasal ganglioglioma is a rare tumor, presenting in newborns, containing both neuronal and astrocytic components and that can be endonasal, extranasal or both. It is usually identified as a nasal mass that may cause feeding difficulties and nasal obstruction. + ICD-10:Q30.8 ICD-11:2A00.21 + ICD10:Q30.8 ICD11:2A00.21 + UMLS:C5548206 Nasal ganglioglioma @@ -41174,6 +41433,9 @@ ICD10:Q87.0 ICD11:LD2F.16 MedDRA:10051934 + OMIM:164210 + UMLS:C0265240 + Goldenhar syndrome OAV spectrum Oculoauriculovertebral spectrum Oculo-auriculo-vertebral spectrum @@ -41185,8 +41447,6 @@ - ICD-10:Q87.0 - ICD10:Q87.0 First branchial arch syndrome Hemifacial microsomia Laterofacial microsomia @@ -41433,6 +41693,8 @@ ICD-11:LD26.3 ICD10:Q74.8 ICD11:LD26.3 + MESH:C536943 + MeSH:C536943 OMIM:186400 OMIM:186570 UMLS:C1861305 @@ -41520,6 +41782,7 @@ + UMLS:C4022007 Midline facial cleft Tessier number 0-14 and 30 facial cleft Median facial cleft @@ -41734,21 +41997,13 @@ - - - - Orofaciodigital syndrome type 12 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (septum hypertrophy) and central nervous system abnormalities (myelomeningocele, Sylvius aqueduct stenosis, corpus callosum agenesis, vermis hypoplasia), in addition to oral, facial and digital malformations (gingival frenulae, bifid tongue, supernumerary teeth, macrocephaly, hypertelorism, pre- and post-axial polydactyly in hands, preaxial polydactyly in feet and club feet). Skeletal anomalies, such as short tibiae and central, Y-shaped metacarpals, are also associated. - ICD-10:Q87.0 - ICD-11:LD25.00 - ICD10:Q87.0 - ICD11:LD25.00 - MESH:C548034 - MeSH:C548034 - UMLS:C4706601 - Moran-Barroso syndrome - OFD12 - Oral-facial-digital syndrome type 12 - Orofaciodigital syndrome type 12 + + OBSOLETE: Moran-Barroso syndrome + OBSOLETE: OFD12 + OBSOLETE: Oral-facial-digital syndrome type 12 + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Orofaciodigital syndrome + OBSOLETE: Orofaciodigital syndrome type 12 + true @@ -41756,21 +42011,13 @@ - - - - Orofaciodigital syndrome type 13 is a rare subtype of orofaciodigital syndrome, with sporadic occurrence, characterized by cardiac (mitral and tricuspid valve dysplasia) and neuropsychiatric manifestations (epilepsy, depression), in addition to oral, facial and digital malformations (lingual hamartomas, cleft lip, brachydactyly, clinodactyly, syndactyly of hands and feet). Leukoaraiosis, on brain MRI examination, is also associated. - ICD-10:Q87.0 - ICD-11:LD25.00 - ICD10:Q87.0 - ICD11:LD25.00 - MESH:C548035 - MeSH:C548035 - UMLS:C4706602 - Degner syndrome - OFD13 - Oral-facial-digital syndrome type 13 - Orofaciodigital syndrome type 13 + + OBSOLETE: Degner syndrome + OBSOLETE: OFD13 + OBSOLETE: Oral-facial-digital syndrome type 13 + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Orofaciodigital syndrome + OBSOLETE: Orofaciodigital syndrome type 13 + true @@ -41826,6 +42073,12 @@ + + + + + + A rare multiple congenital malformation syndrome, characterized by an association of cleft lip and palate, patchy pigmentary retinopathy (cat's paw), obstructive liver disease (cholestasis, portal hypertension etc.) and obstructive renal disease (ectopic ureteric insertion, obstruction, vesicouretral reflux and hydronephrosis). Gastrointestinal tract involvement (malrotation, gastresophageal reflux etc.) and cardiac involvement (coarctation of aorta, pulmonary artery stenosis, etc.) have also been reported. An overlap with Kabuki syndrome is debated. ICD-10:Q87.8 ICD10:Q87.8 @@ -41833,8 +42086,10 @@ MeSH:C535632 OMIM:301068 UMLS:C0795969 - Hardikar syndrome - Cholestasis-pigmentary retinopathy-cleft palate syndrome + Cholestasis-pigmentary retinopathy-cleft palate syndrome + HDKR + MED12-related Hardikar syndrome + Hardikar syndrome @@ -41877,7 +42132,7 @@ - Akaba-Hayasaka syndrome + OBSOLETE: Akaba-Hayasaka syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Spondylodysplastic dysplasia OBSOLETE: Platyspondylic lethal chondrodysplasia true @@ -41909,7 +42164,7 @@ - Moerman-Vandenberghe-Fryns syndrome + OBSOLETE: Moerman-Vandenberghe-Fryns syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Lethal chondrodysplasia OBSOLETE: Lethal chondrodysplasia, Moerman type true @@ -41952,6 +42207,7 @@ OMIM:600092 UMLS:C1838654 Chondrodysplasia-disorder of sex development syndrome + Chondrodysplasia-pseudohermaphroditism syndrome Nivelon-Nivelon-Mabille syndrome Chondrodysplasia-difference of sex development syndrome @@ -42206,7 +42462,7 @@ - CHM-hypopituitarism syndrome + OBSOLETE: CHM-hypopituitarism syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Xq21 microdeletion syndrome OBSOLETE: Choroideremia-hypopituitarism syndrome true @@ -42280,7 +42536,9 @@ Ring chromosome 1 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y MESH:C535361 MeSH:C535361 UMLS:C0265395 @@ -42302,7 +42560,9 @@ An autosomal anomaly characterized by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases. ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y MESH:C538086 MeSH:C538086 UMLS:C0265438 @@ -42321,7 +42581,9 @@ Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (incl. epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported. ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y UMLS:C5201040 Ring 12 Ring chromosome 12 @@ -42342,12 +42604,6 @@ - - - - - - @@ -42400,7 +42656,9 @@ A rare chromosomal anomalie characterized by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck, and large low set ears. ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y MESH:C535487 MeSH:C535487 OMIM:616606 @@ -42420,7 +42678,9 @@ A rare chromosomal anomaly characterized by highly variable manifestations, ranging from a severe phenotype which presents with lissencephaly and severe intellectual disability to a milder phenotype that includes short stature, microcephaly, intellectual disability, seizures (that may be pharmacoresistant), café-au-lait spots, retinal flecks and minor facial dysmorphism, depending on the presence or absence of the Miller-Dieker critical region. ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y MESH:C538046 MeSH:C538046 UMLS:C0795863 @@ -42439,7 +42699,9 @@ A rare autosomal anomaly characterized by variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y MESH:C538304 MeSH:C538304 UMLS:C0265475 @@ -42458,7 +42720,9 @@ Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (esp. speech) and mild dysmorphism (incl. micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported. ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y UMLS:C0795869 Ring 19 Ring chromosome 19 @@ -42476,7 +42740,9 @@ A rare chromosomal disorder, characterized by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioral problems. ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y MESH:C580424 MeSH:C580424 UMLS:C0265482 @@ -42495,7 +42761,9 @@ Ring chromosome 21 syndrome is an autosomal anomaly characterized by variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals. ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y MESH:C537109 MeSH:C537109 UMLS:C0265487 @@ -42512,7 +42780,9 @@ A rare autosomal anomaly characterized by variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics. ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y MESH:C536795 MeSH:C536795 UMLS:C0265492 @@ -42532,7 +42802,9 @@ Autosomal anomaly characterized by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies. ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y MESH:C537636 MeSH:C537636 UMLS:C0265407 @@ -42560,7 +42832,9 @@ Ring chromosome 6 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by prenatal/postnatal growth failure, intellectual disability, developmental delay, craniofacial dysmorphism (incl. microcephaly, microphthalmia, epicanthus, low-set and malformed ears, broad and flat nasal bridge, full lips, micrognathia), central nervous system anomalies (e.g. hydrocephalus, cortical atrophy, ventriculomegaly), short neck, and delayed bone age. Cardiac defects, limb anomalies, hip joint malformations, and seizures have also been reported. ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y MESH:C537763 MeSH:C537763 UMLS:C0795814 @@ -42579,7 +42853,9 @@ Ring chromosome 7 syndrome is a rare chromosomal anomaly syndrome, with highly variable phenotype, principally characterized by growth failure, short stature, intellectual disability, dermatological abnormalities (nevus flammeus, dark pigmented nevi, café-au-lait spots), microcephaly and facial dysmorphism (incl. facial asymmetry, small ears, abnormal palpebral fissures, ptosis, epicanthic folds, hyper/hypotelorism). Additional reported features include convulsions, cleft lip and palate, clinodactyly, kyphoscoliosis and genital anomalies (i.e. cryptorchidism, hypospadias, micropenis). ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y MESH:C537813 MeSH:C537813 UMLS:C0795818 @@ -42648,7 +42924,9 @@ A rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome. ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y MESH:C537824 MeSH:C537824 UMLS:C4274902 @@ -42808,15 +43086,10 @@ - - - A number of families have been described, where several members were affected with coarctation of aorta. In a systematic study of coarctation, familial aggregation was considered as result of multifactorial inheritance and recurrence risks in sibs was evaluated at about 0.5% for coarctation and 1.0% for any form of congenital heart defect. Nevertheless, in some of the described families, aortic coarctations seems to be inherited as an autosomal dominant mutation. - ICD-10:Q25.1 - ICD-11:LA8B.21 - ICD10:Q25.1 - ICD11:LA8B.21 - UMLS:C2930803 - Autosomal dominant coarctation of aorta + + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Aorta coarctation + OBSOLETE: Autosomal dominant coarctation of aorta + true @@ -42824,20 +43097,23 @@ - - + + + A rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta, with varying involvement of the visceral and renal arteries, that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, and lower-limb claudication, that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis). ICD-10:Q25.1 ICD-11:LA8B.21 ICD10:Q25.1 ICD11:LA8B.21 UMLS:C3496579 + Abdominal coarctation Coarctation of the abdominal aorta + MAC Mid-aortic dysplastic syndrome Mid-aortic syndrome Midaortic syndrome - Middle aortic syndrome - Atypical coarctation of aorta + Middle aortic coarctation + Middle aortic syndrome @@ -43134,6 +43410,8 @@ ICD-11:LA89.0 ICD10:Q20.4 ICD11:LA89.0 + MESH:D000080039 + MeSH:D000080039 MedDRA:10045545 UMLS:C0152424 Double inlet atrioventricular connection @@ -43284,6 +43562,7 @@ OMIM:610756 OMIM:610758 OMIM:616570 + UMLS:C5399761 Cerebrooculofacioskeletal syndrome Pena-Shokeir syndrome type 2 COFS syndrome @@ -43516,8 +43795,8 @@ ICD-10:Q21.0 ICD10:Q21.0 - Interventricular communication - VSD + NON RARE IN EUROPE: Interventricular communication + NON RARE IN EUROPE: VSD This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Ventricular septal defect true @@ -43733,7 +44012,7 @@ - Ben Ari-Shuper-Mimouni syndrome + OBSOLETE: Ben Ari-Shuper-Mimouni syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Corpus callosum agenesis-double urinary collecting system-trigonocephaly syndrome true @@ -44367,7 +44646,7 @@ - A rare X-linked malformation syndrome characterized by craniofacial abnormalities, grooved nails, intellectual disability and various skeletal and soft tissue abnormalities. + A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet. ICD-10:Q87.1 ICD-11:LD25.3 ICD10:Q87.1 @@ -44485,8 +44764,8 @@ - Acro-cephalo-synostosis - Allain-Babin-Demarquez syndrome + OBSOLETE: Acro-cephalo-synostosis + OBSOLETE: Allain-Babin-Demarquez syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome without intellectual disability OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome true @@ -44625,7 +44904,7 @@ - Lowry syndrome + OBSOLETE: Lowry syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndromic craniosynostosis OBSOLETE: Craniosynostosis-fibular aplasia syndrome true @@ -44637,7 +44916,7 @@ - Imaizumi-Kuroki syndrome + OBSOLETE: Imaizumi-Kuroki syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndromic craniosynostosis OBSOLETE: Craniosynostosis-radial aplasia, Imaizumi type true @@ -44649,8 +44928,6 @@ - ICD-10:Q87.0 - ICD10:Q87.0 Glass-Chapman-Hockley syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Muenke syndrome Craniosynostosis-dysmorphism-brachydactyly syndrome @@ -44718,6 +44995,12 @@ + + + + + + @@ -45254,17 +45537,13 @@ - ICD-10:I42.1 - ICD-10:I42.2 - ICD10:I42.1 - ICD10:I42.2 - Familial isolated hypertrophic obstructive cardiomyopathy - Familial isolated hypertrophic subaortic stenosis - Familial or idiopathic hypertrophic subaortic stenosis - Familila or idiopathic hypertrophic obstructive cardiomyopathy - Hypertrophic obstructive cardiomyopathy - Primitive hypertrophic obstructive cardiomyopathy - Primitive hypertrophic subaortic stenosis + NON RARE IN EUROPE: Familial isolated hypertrophic obstructive cardiomyopathy + NON RARE IN EUROPE: Familial isolated hypertrophic subaortic stenosis + NON RARE IN EUROPE: Familial or idiopathic hypertrophic subaortic stenosis + NON RARE IN EUROPE: Familila or idiopathic hypertrophic obstructive cardiomyopathy + NON RARE IN EUROPE: Hypertrophic obstructive cardiomyopathy + NON RARE IN EUROPE: Primitive hypertrophic obstructive cardiomyopathy + NON RARE IN EUROPE: Primitive hypertrophic subaortic stenosis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy true @@ -45412,7 +45691,6 @@ - OMIM:219300 McDowall syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Primary non-essential cutis verticis gyrata Cutis verticis gyrata-intellectual disability syndrome @@ -45599,11 +45877,11 @@ ICD-10:B69.1 ICD-10:B69.8 ICD-10:B69.9 + ICD-11:1F70 ICD-11:1F70.0 ICD-11:1F70.00 ICD-11:1F70.1 ICD-11:1F70.Y - ICD-11:1F70  ICD10:B69.0 ICD10:B69.1 ICD10:B69.8 @@ -45769,8 +46047,6 @@ - ICD-10:E34.8 - ICD10:E34.8 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Atypical Werner syndrome Lipoatrophy with diabetes, leukomelanodermic papules, liver steatosis, and hypertrophic cardiomyopathy true @@ -45883,21 +46159,11 @@ - - - - - A rare, autosomal dominant, syndromic bone disorder characterized by dacryocystitis due to lacrimal canal stenosis,and osteopoikilosis (demonastratedradiologically as discrete spherical osteosclerotic lesions of 2-10mm in diameter). - ICD-10:Q78.8 - ICD-11:LD24.1Y - ICD10:Q78.8 - ICD11:LD24.1Y - MESH:C536061 - MeSH:C536061 - OMIM:166705 - UMLS:C1833698 - Gunal-Seber-Basaran syndrome - Dacryocystitis-osteopoikilosis syndrome + + OBSOLETE: Gunal-Seber-Basaran syndrome + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary bone dysplasia with increased bone density + OBSOLETE: Dacryocystitis-osteopoikilosis syndrome + true @@ -46086,8 +46352,6 @@ - ICD-10:Q28.8 - ICD10:Q28.8 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to PHACE syndrome Dandy-Walker malformation-facial hemangioma syndrome true @@ -46233,8 +46497,6 @@ - ICD-10:Q87.1 - ICD10:Q87.1 Short ribs-craniosynostosis-polysyndactyly syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Boomerang dysplasia Piepkorn dysplasia @@ -46834,6 +47096,12 @@ + + + + + + @@ -46857,9 +47125,6 @@ - ICD-10:Q87.0 - ICD10:Q87.0 - OMIM:211380 UMLS:C1863870 Hypospadias-hypertelorism-coloboma and hearing loss syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Branchioskeletogenital syndrome @@ -46872,10 +47137,10 @@ - + A rare vascular tumor characterized by a solitary lesion in the superficial or deep soft tissue of the extremities, most often originating from a small vein as a fusiform intravascular mass also infiltrating surrounding tissues. It is composed of epithelioid endothelial cells arranged in short cords and nests in a myxohyaline stroma. Patients present with an often painful nodule which may be associated with edema or thrombophlebitis. In classic epithelioid hemangioendothelioma lacking atypical histological features metastatic rate and mortality are low. ICD-10:D48.1 ICD-11:2B5Y @@ -47020,8 +47285,9 @@ ICD-10:Q74.8 ICD10:Q74.8 UMLS:C5190522 - Congenital pseudarthrosis of the limbs - Congenital pseudoarthrosis of the limbs + Congenital pseudoarthrosis of the limbs + Isolated congenital pseudarthrosis of the limbs + Isolated pseudoarthrosis of the limbs @@ -47222,9 +47488,6 @@ - ICD-10:G23.0 - ICD10:G23.0 - OMIM:607236 UMLS:C1846582 Hypoprebetalipoproteinemia-acanthocytosis-retinitis pigmentosa-pallidal degeneration syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Classic pantothenate kinase-associated neurodegeneration @@ -47439,24 +47702,6 @@ - ICD-10:C67.0 - ICD-10:C67.1 - ICD-10:C67.2 - ICD-10:C67.3 - ICD-10:C67.4 - ICD-10:C67.5 - ICD-10:C67.6 - ICD-10:C67.7 - ICD-10:C67.8 - ICD10:C67.0 - ICD10:C67.1 - ICD10:C67.2 - ICD10:C67.3 - ICD10:C67.4 - ICD10:C67.5 - ICD10:C67.6 - ICD10:C67.7 - ICD10:C67.8 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Bladder cancer true @@ -47582,6 +47827,7 @@ MESH:D014972 MeSH:D014972 UMLS:C0043324 + JXG Juvenile xanthogranuloma @@ -47656,7 +47902,6 @@ MESH:D015618 MeSH:D015618 MedDRA:10063397 - OMIM:602782 UMLS:C0019625 Destombes-Rosaï-Dorfman disease Rosaï-Dorfman-Destombes disease @@ -47676,7 +47921,9 @@ A rare neoplastic disease characterized by multiple, and on occasion single, asymptomatic, smooth, red-brown papulonodules located on the face, neck, trunk and/or extremities which present a nonepidermotrophic histiocytic infiltrate with immunohistochemical features of both Langerhans and non-Langerhans cells (i.e. immunopositive for S100 protein and CD1a in the absence of Birbeck granules and langerin expression). ICD-10:D76.3 + ICD-11:2B31.6 ICD10:D76.3 + ICD11:2B31.6 UMLS:C2825741 Indeterminate dendritic cell neoplasm Indeterminate dendritic cell tumor @@ -47772,7 +48019,9 @@ ICD-11:4A01.23 ICD11:4A01.23 + Genetic HLH Genetic hemophagocytic lymphohistiocytosis + Primary HLH Primary hemophagocytic lymphohistiocytosis @@ -47943,7 +48192,9 @@ Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized superficial erosions and less commonly blistering. ICD-10:Q81.0 + ICD-11:EC30 ICD10:Q81.0 + ICD11:EC30 MESH:C536183 MeSH:C536183 OMIM:604536 @@ -48201,7 +48452,9 @@ A rare, slowly progressive form of systemic mastocytosis (SM) characterized by gradual accumulation of neoplastic mast cells in the visceral organs. Patients typically present with splenomegaly, hypercellular marrow and, in most cases, urticaria pigmentosa-like skin lesions. ICD-10:C96.2 + ICD-11:2A21.0Y ICD10:C96.2 + ICD11:2A21.0Y UMLS:C3897042 Smoldering systemic mastocytosis @@ -48406,6 +48659,8 @@ ICD-11:9B70 ICD10:H53.5 ICD11:9B70 + MESH:C536238 + MeSH:C536238 OMIM:303700 UMLS:C0339537 Atypical X-linked achromatopsia @@ -48425,7 +48680,7 @@ - A rare lymphoproliferative disorder characterized by involvement of lymph nodes in any part of the body, most frequently the mediastinum, abdomen, neck, or spleen, and occurring as unicentric, idiopathic multicentric, or KSHV/HHV8-associated multicentric Castleman disease. Depending on the type, patients are most commonly asymptomatic or typically present with systemic symptoms. + A rare lymphoid hemopathy characterized by involvement of lymph nodes in any part of the body, most frequently the mediastinum, abdomen, neck, or spleen, and occurring as unicentric, idiopathic multicentric, or KSHV/HHV8-associated multicentric Castleman disease. Depending on the type, patients are most commonly asymptomatic or typically present with systemic symptoms. ICD-10:D47.7 ICD-11:4B2Y ICD10:D47.7 @@ -48495,12 +48750,6 @@ - - - - - - A rare chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, poor/absent speech, and prenatal onset growth deficiency. ICD-10:Q93.5 ICD-11:LD44.11 @@ -48534,8 +48783,8 @@ - Monosomy 20p - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Partial monosomy of the short arm of chromosome 20 + OBSOLETE: Monosomy 20p + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Partial deletion of the short arm of chromosome 20 OBSOLETE: Deletion 20p true @@ -48546,9 +48795,8 @@ - - - + + 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. ICD-10:Q93.5 ICD-11:LD44.20 @@ -48560,7 +48808,7 @@ Del(2)(q24) Monosomy 2q24 del(2)(q24) - 2q24 microdeletion syndrome + Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion @@ -48588,7 +48836,11 @@ ICD-10:Q12.0 ICD10:Q12.0 UMLS:C4305131 - Cataract-glaucoma syndrome + Congenital cataract-ASD syndrome + Congenital cataract-ASGD syndrome + Congenital cataract-ASMD syndrome + Congenital cataract-anterior segment mesenchymal dysgenesis syndrome + Congenital cataract-anterior segment dysgenesis syndrome @@ -48648,7 +48900,7 @@ - Monosomy 4q + OBSOLETE: Monosomy 4q This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Partial deletion of the long arm of chromosome 4 OBSOLETE: Deletion 4q true @@ -48679,7 +48931,7 @@ - Apertura pyriformis with holoprosencephaly + OBSOLETE: Apertura pyriformis with holoprosencephaly This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Microform holoprosencephaly OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly true @@ -48739,6 +48991,7 @@ + @@ -48756,9 +49009,9 @@ MeSH:C538137 OMIM:600886 UMLS:C1833213 - Bonneau-Beaumont syndrome HHCS - Hereditary hyperferritinemia with congenital cataracts + Hereditary hyperferritinemia with cataracts + Hereditary hyperferritinemia-cataract disease Hereditary hyperferritinemia-cataract syndrome @@ -48966,6 +49219,9 @@ ICD11:LD2F.1Y OMIM:614569 UMLS:C0024454 + Enchondromatosis Spranger type II + Multiple Enchondromatosis type II + Multiple Enchondromatosis, Maffucci Type Maffucci syndrome @@ -48993,9 +49249,9 @@ Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. ICD-10:Q77.7 + ICD-11:LD24.3 ICD10:Q77.7 - OMIM:602611 - OMIM:618618 + ICD11:LD24.3 UMLS:C4305147 Spondyloepiphyseal dysplasia, Nishimura type Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome @@ -49011,7 +49267,9 @@ Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia (see this term) described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia). ICD-10:Q77.7 + ICD-11:LD24.3 ICD10:Q77.7 + ICD11:LD24.3 MESH:C567128 MeSH:C567128 OMIM:611717 @@ -49087,8 +49345,6 @@ - ICD-10:Q77.7 - ICD10:Q77.7 OMIM:183850 UMLS:C1866727 Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome @@ -49452,7 +49708,7 @@ - Classic paraneoplastic limbic encephalitis, with or without intracellular antigens + OBSOLETE: Classic paraneoplastic limbic encephalitis, with or without intracellular antigens This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autoimmune encephalitis OBSOLETE: Classic paraneoplastic limbic encephalitis true @@ -49475,7 +49731,7 @@ - Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies + OBSOLETE: Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autoimmune encephalitis OBSOLETE: Limbic encephalitis with LGI1 antibodies true @@ -49487,7 +49743,7 @@ - Limbic encephalitis with novel cell membrane antigen antibodies + OBSOLETE: Limbic encephalitis with novel cell membrane antigen antibodies This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autoimmune encephalitis OBSOLETE: Limbic encephalitis with nCMAgs antibodies true @@ -49652,8 +49908,6 @@ - ICD-10:Q87.8 - ICD10:Q87.8 OMIM:300799 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Lujan-Fryns syndrome X-linked intellectual disability, Raymond type @@ -49802,8 +50056,6 @@ - ICD-10:G31.8 - ICD10:G31.8 OMIM:309640 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Allan-Herndon-Dudley syndrome X-linked intellectual disability-spastic quadriparesis syndrome @@ -49851,11 +50103,9 @@ - ICD-10:Q28.2 - ICD10:Q28.2 - Brain cavernous angioma - Brain cavernous hemangioma - Cerebral cavernoma + NON RARE IN EUROPE: Brain cavernous angioma + NON RARE IN EUROPE: Brain cavernous hemangioma + NON RARE IN EUROPE: Cerebral cavernoma This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Cerebral cavernous malformations true @@ -49948,8 +50198,9 @@ OMIM:400042 OMIM:415000 UMLS:C1507149 - Male sterility due to chromosome Y deletion - Partial chromosome Y deletion + Male infertility due to chromosome Y microdeletion + Microdeletion of the AZF region on the Y chromosome + Chromosome Y microdeletion @@ -50047,12 +50298,10 @@ - ICD-10:G31.8 - ICD10:G31.8 - Cortical Lewy body disease - DLB - Diffuse Lewy body disease - Lewy body dementia + NON RARE IN EUROPE: Cortical Lewy body disease + NON RARE IN EUROPE: DLB + NON RARE IN EUROPE: Diffuse Lewy body disease + NON RARE IN EUROPE: Lewy body dementia This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Dementia with Lewy body true @@ -50401,7 +50650,15 @@ Cavitary myiasis is a rare parasitic disease characterized by the infestation of natural body cavities (e.g. aural, nasal, oral, urogenital myiasis) and internal organs (e.g. cerebral myiasis, ophthalmomyiasis, intestinal and tracheopulmonary myiasis) with dipteran larvae. Clinical presentation is variable depending on the affected site(s) and degree of infestation and include foreign-body sensation (with or without movement sensation), hemorrhage, pain, edema, sensory loss, malodor, and pruritus, among others. Neurological features (e.g. motor deficits, seizures, reduced mental status, extrapyramidal signs) have been reported in cerebral myiasis. ICD-10:B87.8 + ICD-11:1G01.0 + ICD-11:1G01.1 + ICD-11:1G01.2 + ICD-11:1G01.Y ICD10:B87.8 + ICD11:1G01.0 + ICD11:1G01.1 + ICD11:1G01.2 + ICD11:1G01.Y UMLS:C4707154 Cavitary myiasis @@ -50479,9 +50736,6 @@ - ICD-10:E07.8 - ICD10:E07.8 - OMIM:145650 UMLS:C1840364 PRTH Selective pituitary resistance to thyroid hormone @@ -50573,28 +50827,14 @@ - - - - - - - - - - - - - A rare primary bone dysplasia characterized by the association of multiple epiphyseal dysplasia, visual impairment (with early-onset progressive myopia, retinal thinning, and cataracts), and conductive hearing loss. Patients are of short stature and present brachydactyly, genu valgus deformity, and joint pain. - ICD-10:Q77.3 - ICD-11:LD24.61 - ICD10:Q77.3 - ICD11:LD24.61 + OMIM:132450 UMLS:C4304499 Multiple epiphyseal dysplasia-myopia-deafness syndrome Multiple epiphyseal dysplasia-myopia-hearing loss syndrome + This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Stickler syndrome Multiple epiphyseal dysplasia, Beighton type + true @@ -50637,8 +50877,9 @@ ICD11:LD24.61 OMIM:607131 UMLS:C4304500 - Multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome - Multiple epiphyseal dysplasia, Al-Gazali type + Dysplasie épiphysaire multiple type Al-Gazali + Multiple epiphyseal dysplasia, Al-Gazali type + Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome @@ -50658,7 +50899,7 @@ MeSH:C563736 OMIM:609324 UMLS:C1836315 - Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia + Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome @@ -50678,7 +50919,7 @@ MeSH:C563735 OMIM:609325 UMLS:C1836307 - Multiple epiphyseal dysplasia, with miniepiphyses + Multiple epiphyseal dysplasia-miniepiphyses syndrome @@ -50759,8 +51000,6 @@ - ICD-10:Q04.3 - ICD10:Q04.3 OMIM:610204 UMLS:C1857762 Fetal-onset olivopontocerebellar hypoplasia @@ -51079,7 +51318,7 @@ - Bazex syndrome is a rare paraneoplastic syndrome characterized by acral psoriasiform lesions. + A rare paraneoplastic syndrome characterized by acral psoriasiform lesions typically involving the ears, nose, fingers and nails of the hands and feet, but may also extend to cheeks, elbows, knees and trunk, with occasional pruritus. In a majority of cases the cutaneous lesions precede the symptoms/diagnosis of malignancy (generally involving the upper aerodigestive tract, but also other squamous cell malignancies). ICD-10:L44.8 ICD-11:EL10 ICD10:L44.8 @@ -51345,6 +51584,7 @@ ICD11:1F66.Y MESH:D004184 MeSH:D004184 + MedDRA:10080290 UMLS:C0012602 Dirofilariasis @@ -51640,6 +51880,7 @@ MESH:D000073376 MeSH:D000073376 + UMLS:C4505072 Epilepsy syndrome @@ -51837,7 +52078,6 @@ - @@ -51885,7 +52125,6 @@ MESH:C564019 MeSH:C564019 OMIM:520100 - OMIM:618662 UMLS:C1838912 Chronic diarrhea with villous atrophy @@ -51942,7 +52181,6 @@ - OMIM:220500 DRC syndrome Eronen-Somer-Gustafsson syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to DOORS syndrome @@ -52170,7 +52408,8 @@ - Little syndrome + OBSOLETE: Little syndrome + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare movement disorder OBSOLETE: Spastic diplegia, infantile type true @@ -52228,8 +52467,6 @@ - ICD-10:Q87.8 - ICD10:Q87.8 OMIM:126320 UMLS:C1852062 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Lymphedema-distichiasis syndrome @@ -52263,8 +52500,6 @@ - ICD-10:G11.4 - ICD10:G11.4 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome Spondyloepimetaphyseal dysplasia, Bieganski type true @@ -52285,6 +52520,7 @@ ICD11:LD24.3 OMIM:601668 UMLS:C4750771 + SEMDAD Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome @@ -52321,49 +52557,11 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Congenital neuronal ceroid lipofuscinosis (CNCL) is a severe form of neuronal ceroid lipofuscinosis (NCL; see this term) with onset at birth characterized by primary microcephaly, neonatal epilepsy, and death in early infancy. - ICD-10:E75.4 - ICD-11:5C56.1 - ICD10:E75.4 - ICD11:5C56.1 - OMIM:610127 - Congenital NCL - Congenital neuronal ceroid lipofuscinosis + + OBSOLETE: Congenital NCL + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis + OBSOLETE: Congenital neuronal ceroid lipofuscinosis + true @@ -52371,82 +52569,13 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration. - ICD-10:E75.4 - ICD-11:5C56.1 - ICD10:E75.4 - ICD11:5C56.1 - OMIM:204500 - OMIM:256730 - OMIM:256731 - OMIM:600143 - OMIM:601780 - OMIM:610127 - OMIM:610951 - UMLS:C0022340 - Jansky-Bielschowsky disease - LINCL - Late infantile NCL - Late infantile neuronal ceroid lipofuscinosis + + OBSOLETE: Jansky-Bielschowsky disease + OBSOLETE: LINCL + OBSOLETE: Late infantile NCL + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis + OBSOLETE: Late infantile neuronal ceroid lipofuscinosis + true @@ -52830,9 +52959,11 @@ - A rare inborn error of metabolism characterized by persistently elevated serum methionine levels. Individuals with mean levels of less than 800 &#956;M are usually clinically normal, while those with higher means show evidence of central nervous system abnormalities, most notably hypo- or demyelination on brain MRI, as well as developmental delay and intellectual disability. Bad breath or a strong smell of urine and sweat may be noted in some patients. + A rare inborn error of metabolism characterized by persistently elevated serum methionine levels. Half of patients reported with MAT I/III deficiency, notably those with hypermethioninemia below 800 µM, have no CNS abnormalities and are clinically asymptomatic. However, individuals with higher levels might show evidence of central nervous system abnormalities, most notably hypo- or demyelination on brain MRI, as well as developmental delay and intellectual disability. Bad breath or a strong smell of urine and sweat may be noted in some patients. ICD-10:E72.1 + ICD-11:5C50.B ICD10:E72.1 + ICD11:5C50.B OMIM:250850 UMLS:C0268621 MAT I/III deficiency @@ -52915,8 +53046,6 @@ - ICD-10:H90.3 - ICD10:H90.3 Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure @@ -52980,13 +53109,14 @@ - + Meyer dysplasia of the femoral head is a mild localized form of skeletal dysplasia characterized by delayed, irregular ossification of femoral capital epiphysis. ICD-10:Q78.8 ICD-11:LD24.6Y ICD10:Q78.8 ICD11:LD24.6Y UMLS:C4274970 + DECF Dysplasia epiphysealis capitis femoris Meyer dysplasia Dysplasia of head of femur, Meyer type @@ -53194,9 +53324,9 @@ - + Peritoneal cystic mesothelioma is a rare benign tumor characterized by the formation of intra-abdominal multilocular cystic masses. ICD-10:C45.1 ICD10:C45.1 @@ -53204,7 +53334,8 @@ Benign multicystic peritoneal mesothelioma Multicystic mesothelioma Multilocular peritoneal inclusion cyst - Peritoneal cystic mesothelioma + Peritoneal cyctic mesothelioma + Peritoneal inclusion cyst @@ -53286,7 +53417,7 @@ ICD-11:2A51 ICD10:D47.1 ICD11:2A51 - UMLS:C5680456 + UMLS:C3472621 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement @@ -53375,8 +53506,6 @@ - ICD-10:E77.8 - ICD10:E77.8 OMIM:612713 UMLS:C2675185 Intellectual disability, Kahrizi type @@ -53555,7 +53684,8 @@ - + + @@ -53572,7 +53702,6 @@ MESH:C536781 MeSH:C536781 OMIM:601705 - OMIM:618806 UMLS:C1866426 Alymphoid cystic thymic dysgenesis Nude/SCID @@ -53667,7 +53796,7 @@ - + @@ -53691,7 +53820,7 @@ OMIM:617475 UMLS:C5546032 Neutrophil-specific granule deficiency - Recurrent infection due to specific granule deficiency + Recurrent infections due to specific granule deficiency @@ -54024,7 +54153,9 @@ A rare autosomal trisomy, characterized by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism. ICD-10:Q92.1 + ICD-11:LD40.Y ICD10:Q92.1 + ICD11:LD40.Y UMLS:C5394675 Mosaic trisomy chromosome 1 Trisomy 1 mosaicism @@ -54102,11 +54233,11 @@ - AR-HIES - Autosomal recessive HIES - Hyperimmunoglobulin E syndrome type 2 - Non-skeletal hyper-IgE syndrome - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Autosomal recessive hyper-IgE syndrome + OBSOLETE: AR-HIES + OBSOLETE: Autosomal recessive HIES + OBSOLETE: Hyperimmunoglobulin E syndrome type 2 + OBSOLETE: Non-skeletal hyper-IgE syndrome + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency OBSOLETE: Autosomal recessive hyper-IgE syndrome true @@ -54286,7 +54417,9 @@ Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported. ICD-10:Q92.1 + ICD-11:LD40.Y ICD10:Q92.1 + ICD11:LD40.Y UMLS:C4706889 Mosaic trisomy chromosome 12 Trisomy 12 mosaicism @@ -54337,6 +54470,7 @@ ICD10:D66 ICD11:3B10.0 OMIM:306700 + UMLS:C0272323 Moderate congenital F8 deficiency Moderate congenital factor VIII deficiency Moderate hemophilia A @@ -54509,7 +54643,9 @@ Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate. ICD-10:Q92.1 + ICD-11:LD40.Y ICD10:Q92.1 + ICD11:LD40.Y MESH:C535489 MeSH:C535489 UMLS:C2930917 @@ -54548,7 +54684,9 @@ Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported. ICD-10:Q92.1 + ICD-11:LD40.Y ICD10:Q92.1 + ICD11:LD40.Y MESH:C538037 MeSH:C538037 UMLS:C2931707 @@ -54587,7 +54725,9 @@ Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay. ICD-10:Q92.1 + ICD-11:LD40.Y ICD10:Q92.1 + ICD11:LD40.Y UMLS:C4707009 Mosaic trisomy chromosome 16 Trisomy 16 mosaicism @@ -54613,6 +54753,8 @@ ICD-11:DB96.2 ICD10:K83.0 ICD11:DB96.2 + MESH:D015209 + MeSH:D015209 MedDRA:10036732 OMIM:602114 OMIM:613806 @@ -54631,7 +54773,9 @@ Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also been reported. ICD-10:Q92.1 + ICD-11:LD40.Y ICD10:Q92.1 + ICD11:LD40.Y UMLS:C1096168 Mosaic trisomy chromosome 17 Trisomy 17 mosaicism @@ -54676,9 +54820,9 @@ + - A rare, congenital, intestinal malformation morphological anomaly characterized by an egg-like, cystic, mucus-filled mass, composed of intestinal mucosal lining and smooth muscle tissue. Commonly it presents in childhood with symptoms of recurrent urinary tract infections, gastroenteritis, obstruction, perianal sepsis and rectal bleeding. Drainage of mucus or pus from the anus is also a typical presenting sign. The majority are found in the retro-rectal space where they communicate with, or are contiguous to, the rectum. ICD-10:Q43.4 ICD-11:LB17.Y @@ -55465,8 +55609,6 @@ - ICD-10:E77.8 - ICD10:E77.8 UMLS:C1836824 Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to GM3 synthase deficiency @@ -55523,6 +55665,7 @@ ICD11:DA02.0 MESH:D053529 MeSH:D053529 + MedDRA:10072666 OMIM:193900 OMIM:615785 UMLS:C1721005 @@ -55565,9 +55708,6 @@ - ICD-10:K00.5 - ICD10:K00.5 - OMIM:204690 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Enamel-renal syndrome Amelogenesis imperfecta-gingival hyperplasia syndrome true @@ -55726,9 +55866,9 @@ - + @@ -56007,7 +56147,9 @@ Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported. ICD-10:Q92.1 + ICD-11:LD40.Y ICD10:Q92.1 + ICD11:LD40.Y UMLS:C4707010 Mosaic trisomy chromosome 2 Trisomy 2 mosaicism @@ -56024,7 +56166,9 @@ Mosaic trisomy 20 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from normal (in the majority of cases) to a mild, subtle phenotype principally characterized by spinal abnormalities (i.e. stenosis, vertebral fusion, and kyphosis), hypotonia, lifelong constipation, sloped shoulders, skin pigmentation abnormalities (i.e. linear and whorled nevoid hypermelanosis) and significant learning disabilities despite normal intelligence. More severe phenotypes, with patients presenting psychomotor and speech delay, mild facial dysmorphism, cardiac (i.e. ventricular septal defect, dysplastic tricuspid mitral valve) and renal anomalies (e.g. horseshoe kidneys), have also been reported. ICD-10:Q92.1 + ICD-11:LD40.Y ICD10:Q92.1 + ICD11:LD40.Y MESH:C535372 MeSH:C535372 UMLS:C0265479 @@ -56172,7 +56316,7 @@ - Trisomy 4q + OBSOLETE: Trisomy 4q This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Partial duplication of the long arm of chromosome 4 OBSOLETE: Duplication 4q true @@ -56272,7 +56416,9 @@ Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported. ICD-10:Q92.1 + ICD-11:LD40.Y ICD10:Q92.1 + ICD11:LD40.Y MESH:C537822 MeSH:C537822 UMLS:C2931631 @@ -56414,7 +56560,9 @@ A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the <i>MECP2</i> gene. It is characterized in males by infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable. ICD-10:Q99.8 + ICD-11:LD51 ICD10:Q99.8 + ICD11:LD51 MESH:C537723 MeSH:C537723 OMIM:300260 @@ -56468,16 +56616,10 @@ - - - - - Dyschondrosteosis - nephritis is characterized by the association of short stature due to mesomelic shortening of the limbs and Madelung deformity (see this term), with hereditary nephritis. - ICD-10:Q73.8 - ICD10:Q73.8 - OMIM:127350 - UMLS:C4302549 - Dyschondrosteosis-nephritis syndrome + + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary bone dysplasia with increased bone density + OBSOLETE: Dyschondrosteosis-nephritis syndrome + true @@ -57049,7 +57191,7 @@ UMLS:C0687720 CDI Neurogenic diabetes insipidus - Central diabetes insipidus + Arginine vasopressin deficiency @@ -57717,12 +57859,6 @@ - - - - - - @@ -57964,7 +58100,6 @@ OMIM:156200 OMIM:612580 OMIM:612581 - OMIM:612621 OMIM:613970 OMIM:614113 OMIM:614254 @@ -57975,7 +58110,6 @@ OMIM:615828 OMIM:616083 OMIM:616393 - OMIM:616521 OMIM:616579 OMIM:616977 OMIM:617796 @@ -58043,10 +58177,8 @@ A rare form of botulism, a rare acquired neuromuscular junction disease with descending flaccid paralysis caused by botulinum neurotoxins (BoNTs), and is due to intestinal colonization by <i>Clostridium botulinum</i> leading to toxin-mediated infection with toxemia. The disease affects infants (infant botulism) and very rarely adults (adult intestinal botulism). ICD-10:A05.1 ICD-11:1A11.1 - ICD-11:null ICD10:A05.1 ICD11:1A11.1 - ICD11:null UMLS:C1443901 Intestinal colonization botulism Intestinal toxemia botulism @@ -58079,17 +58211,11 @@ - - - - A rare, genetic macular disorder characterised by severe near-sightedness resulting from continual elongation of the eyeball. As the eyeball stretches the sclera and retina thin and the macula can tear, causing bleeding beneath the retina. It is a major cause of irreversible vision loss. - ICD-10:H35.3 - ICD-11:9B76 - ICD10:H35.3 - ICD11:9B76 - UMLS:C0730271 - Myopic maculopathy - Myopic macular degeneration + + NON RARE IN EUROPE: Myopic maculopathy + This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. + NON RARE IN EUROPE: Myopic macular degeneration + true @@ -58098,9 +58224,6 @@ - ICD-10:D70 - ICD10:D70 - OMIM:612541 UMLS:C2751630 Pulmonary arterial hypertension-leukopenia-atrial septal defect syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency @@ -58414,7 +58537,7 @@ - A very rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997. + A rare acrofacial dysostosis characterized by normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, and unilateral cleft lip. Features are similar to those seen in Zlotogora-Ogur syndrome, although the latter shows no sign of acrofacial dysostosis. There have been no further reports in the literature since 1997. ICD-10:Q75.4 ICD-11:LD25.2 ICD10:Q75.4 @@ -58462,7 +58585,7 @@ - Van Biervliet-Hendrickx-van Ertbruggen syndrome + OBSOLETE: Van Biervliet-Hendrickx-van Ertbruggen syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Craniofacial dysostosis-arthrogryposis-progeroid appearance syndrome true @@ -58646,6 +58769,7 @@ + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Acrodysostosis OBSOLETE: Peripheral dysostosis true @@ -58693,9 +58817,9 @@ OMIM:122900 UMLS:C0432263 Autosomal dominant osteosclerosis, Stanescu type - Craniofacial dysostosis-diaphyseal hyperplasia syndrome + Dysostosis, Stanescu type Stanescu osteosclerosis - Dysostosis, Stanescu type + Craniofacial dysostosis-diaphyseal hyperplasia syndrome @@ -58780,7 +58904,7 @@ - Bazopoulou-Kyrkanidou syndrome + OBSOLETE: Bazopoulou-Kyrkanidou syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary bone dysplasia with decreased bone density OBSOLETE: Craniofaciocervical osteoglyphic dysplasia true @@ -58968,10 +59092,8 @@ - ICD-10:Q51.8 - ICD10:Q51.8 - Uterus arcuatus - Uterus cordiformis + NON RARE IN EUROPE: Uterus arcuatus + NON RARE IN EUROPE: Uterus cordiformis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Cordiform uterus true @@ -59470,7 +59592,9 @@ A group of rare vaginal tumors comprising HPV-associated and HPV-independent squamous cell carcinoma, glandular tumors (including HPV-associated adenocarcinoma, endometrioid carcinoma, clear cell carcinoma, gastric type and intestinal type mucinous carcinoma, and mesonephric adenocarcinoma), adenocarcinoma of Skene gland origin, adenosquamous carcinoma, and adenoid basal carcinoma. Depending on the type of tumor and disease stage, patients may present with symptoms related to a vaginal mass, vaginal bleeding and/or discharge, postcoital bleeding, urinary symptoms, pelvic pain, and a foreign body sensation within the vagina. ICD-10:C52 + ICD-11:2C71 ICD10:C52 + ICD11:2C71 UMLS:C0262659 Vaginal malignant epithelial tumor Vaginal carcinoma @@ -59579,8 +59703,6 @@ - ICD-10:D24 - ICD10:D24 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Benign ductal tumor of breast true @@ -60960,7 +61082,7 @@ OMIM:259775 UMLS:C1850106 Raine syndrome - Lethal osteosclerotic bone dysplasia + Osteosclerotic bone dysplasia @@ -61297,6 +61419,7 @@ + UMLS:C5680563 Hereditary ataxia @@ -61802,7 +61925,7 @@ - CVID due to TNFR deficiency + OBSOLETE: CVID due to TNFR deficiency This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Common variable immunodeficiency OBSOLETE: Common variable immunodeficiency due to TNFR deficiency true @@ -61853,12 +61976,6 @@ - - - - - - Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia. ICD-10:E70.3 ICD-11:EC23.20 @@ -61867,7 +61984,9 @@ OMIM:608233 OMIM:617050 UMLS:C1842362 + Hermansky-Pudlak syndrome due to Adaptator-related protein complex 3 deficiency Hermansky-Pudlak syndrome with neutropenia + Syndrome de Hermansky-Pudlak par déficit en adaptator-related protein complex 3 Hermansky-Pudlak syndrome due to AP-3 deficiency @@ -61881,7 +62000,9 @@ ICD-11:4A00.0 ICD11:4A00.0 UMLS:C5681846 - Functional neutrophil defect + Congenital functional defect of phagocyte + Constitutional functional phagocyte defect + Congenital functional phagocyte defect @@ -61902,7 +62023,7 @@ OMIM:191420 UMLS:C1860615 Rosenberg-Lohr syndrome - Ulna metaphyseal dysplasia syndrome + Metaphyseal chondrodysplasia, Rosenberg type @@ -61910,9 +62031,9 @@ - + @@ -61929,7 +62050,8 @@ OMIM:608203 OMIM:618987 UMLS:C1842398 - Neutrophil immunodeficiency syndrome + Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency + Infantile LAD-like disease due to RAC2 deficiency @@ -62287,7 +62409,6 @@ - @@ -62447,8 +62568,8 @@ - Femoral trochlear groove insufficiency - Hypoplasia of the femoral trochlea + NON RARE IN EUROPE: Femoral trochlear groove insufficiency + NON RARE IN EUROPE: Hypoplasia of the femoral trochlea This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Trochlear dysplasia true @@ -62474,7 +62595,7 @@ - + @@ -63170,9 +63291,11 @@ Clouston syndrome (or hidrotic ectodermal dysplasia) is characterised by the clinical triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. ICD-10:Q82.8 - ICD-11:LD27.02 + ICD-11:LD27.03 + ICD-11:LD27.0Y ICD10:Q82.8 - ICD11:LD27.02 + ICD11:LD27.03 + ICD11:LD27.0Y OMIM:129500 UMLS:C0162361 Clouston syndrome @@ -63267,7 +63390,7 @@ - A rare cause of Cushing syndrome (CS) characterized by nodular enlargement of both adrenal glands (multiple nodules above 1 cm in diameter) that produce excess cortisol and features of adrenocorticotropic hormone (ACTH) independent CS. + A rare adrenal Cushing syndrome characterized by bilateral benign adrenal macronodules (>1 cm) that potentially produce autonomously variable levels of cortisol excess. Although in most cases are ACTH-independent, non-suppressed ACTH levels have been described. ICD-10:E24.8 ICD10:E24.8 OMIM:219080 @@ -63288,8 +63411,8 @@ - PPNAD - Primary pigmented nodular adrenal dysplasia + OBSOLETE: PPNAD + OBSOLETE: Primary pigmented nodular adrenal dysplasia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated primary pigmented nodular adrenocortical disease OBSOLETE: Primary pigmented nodular adrenocortical disease true @@ -63854,8 +63977,10 @@ ICD10:T56.1 ICD11:LD2F.0Y UMLS:C0265376 - Methyl mercury antenatal infection - Minamata disease + Congenital Minamata disease + Fetal methylmercury poisoning + Intrauterine methylmercury poisoning + Prenatal methylmercury poisoning Fetal methylmercury syndrome @@ -64297,6 +64422,7 @@ OMIM:613721 OMIM:616341 OMIM:617276 + OMIM:617281 OMIM:617350 OMIM:617389 OMIM:617391 @@ -64369,7 +64495,7 @@ - Envenomization by the Martinique lancehead viper + OBSOLETE: Envenomization by the Martinique lancehead viper This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Snakebite envenomation OBSOLETE: Envenomization by Bothrops lanceolatus true @@ -64776,6 +64902,8 @@ ICD-11:8A03.16 ICD10:G11.1 ICD11:8A03.16 + MESH:C535738 + MeSH:C535738 OMIM:133190 UMLS:C1851481 Erythrokeratodermia with ataxia @@ -64872,6 +65000,8 @@ Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975. + ICD-10:Q87.1 + ICD10:Q87.1 OMIM:133750 UMLS:C4749763 Char-Douglas-Dungan syndrome @@ -65113,7 +65243,6 @@ OMIM:615483 OMIM:616413 OMIM:618824 - UMLS:C0393590 BSPDC Cerebrovascular ferrocalcinosis Idiopathic basal ganglia calcification @@ -65140,10 +65269,8 @@ - ICD-10:G93.3 - ICD10:G93.3 - Chronic fatigue immune dysfunction syndrome - Myalgic encephalomyelitis + NON RARE IN EUROPE: Chronic fatigue immune dysfunction syndrome + NON RARE IN EUROPE: Myalgic encephalomyelitis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Chronic fatigue syndrome true @@ -65155,11 +65282,8 @@ - ICD-10:D69.4 - ICD10:D69.4 MESH:C537078 MeSH:C537078 - OMIM:155100 UMLS:C0403445 Alport syndrome with leukocyte inclusions and macrothrombocytopenia This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MYH9-related disease @@ -65199,7 +65323,7 @@ - + Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur. ICD-10:Q72.4 @@ -65207,9 +65331,12 @@ ICD10:Q72.4 ICD11:LB9A.8 UMLS:C0345375 - Congenital short femur - Femoral intercalary meromelia - Femoral agenesis/hypoplasia + CFD + CSF + Isolated congenital femoral deficiency + Isolated congenital short femur + Isolated femoral intercalary meromelia + Isolated femoral agenesis/hypoplasia @@ -65410,6 +65537,8 @@ ICD-11:FB51.Y ICD10:M72.2 ICD11:FB51.Y + MESH:D000071380 + MeSH:D000071380 MedDRA:10035154 UMLS:C0158360 Plantar fibromatosis @@ -65525,6 +65654,7 @@ ICD11:EE01.0 MESH:C535634 MeSH:C535634 + MedDRA:10076575 UMLS:C2029348 Progressive isolated segmental anhidrosis Harlequin syndrome @@ -65690,7 +65820,6 @@ ICD-10:Q37.8 ICD-10:Q37.9 ICD-11:LA40 - ICD-11:LA41 ICD-11:LA42 ICD10:Q37.0 ICD10:Q37.1 @@ -65701,7 +65830,6 @@ ICD10:Q37.8 ICD10:Q37.9 ICD11:LA40 - ICD11:LA41 ICD11:LA42 MedDRA:10009260 OMIM:119530 @@ -66283,6 +66411,8 @@ ICD-11:LA05.3 ICD10:Q04.0 ICD11:LA05.3 + MESH:D061085 + MeSH:D061085 UMLS:C5680463 Isolated corpus callosum agenesis @@ -66297,6 +66427,7 @@ ICD-11:8A02.2 ICD11:8A02.2 + UMLS:C0393588 Paroxysmal dystonia @@ -66425,7 +66556,7 @@ - Novak syndrome + OBSOLETE: Novak syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Laryngotracheoesophageal cleft type 4 OBSOLETE: Laryngo-tracheo-esophageal cleft-pulmonary hypoplasia syndrome true @@ -66441,7 +66572,9 @@ A rare median facial cleft characterized by median cleft of the lower lip (ranging in extent from a notch in the vermilion to a complete cleft involving the tongue, lower lip, and chin, and extending to the cervical region), median cleft of the mandible (ranging from notching to a complete cleft), and anomaly of the tongue including bifid tongue and tongue tie. Associated features in severe cases may include absent hyoid, thyroid cartilage, and manubrium sterni, as well as atrophic neck muscles. ICD-10:Q36.1 + ICD-11:LA51 ICD10:Q36.1 + ICD11:LA51 UMLS:C4518460 Median cleft lower facial stage Median cleft lip/mandible @@ -67039,8 +67172,6 @@ - ICD-10:M89.2 - ICD10:M89.2 Jaffe-Campanacci syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Neurofibromatosis type 1 Multiple non-ossifying fibromatosis @@ -67084,7 +67215,6 @@ MESH:D005354 MeSH:D005354 MedDRA:10016632 - OMIM:117600 UMLS:C0016057 Fibrosarcoma @@ -67104,6 +67234,8 @@ Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987. + ICD-10:Q87.8 + ICD10:Q87.8 MESH:C536515 MeSH:C536515 OMIM:213010 @@ -67529,8 +67661,6 @@ - ICD-10:Q87.8 - ICD10:Q87.8 OMIM:229230 UMLS:C1856708 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Fraser syndrome @@ -67620,7 +67750,6 @@ MedDRA:10073655 OMIM:193700 OMIM:277720 - OMIM:616266 OMIM:618436 UMLS:C0265224 Craniocarpotarsal dysplasia @@ -67648,9 +67777,6 @@ - ICD-10:Q87.0 - ICD10:Q87.0 - OMIM:609640 UMLS:C1864825 Frias syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to 14q22q23 microdeletion syndrome @@ -67717,7 +67843,9 @@ - A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and sever intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further description in the literature since 1994. + A rare, genetic, syndromic intellectual disability disorder characterized by severe psychomotor development delay (without development of primary motor abilities and speech) and severe intellectual disability, associated with marfanoid habitus, joint laxity, bilateral hip luxation, hypotonia, scoliosis, and characteristic facial dysmorphism (i.e. high nasal bridge, sharp nose, short philtrum, large mouth, full lips and maxillary hypoplasia). There have been no further description in the literature since 1994. + ICD-10:Q87.0 + ICD10:Q87.0 UMLS:C5680810 Fryns-Smeets-Thiry syndrome @@ -67758,12 +67886,6 @@ - ICD-10:K50.0 - ICD-10:K50.1 - ICD-10:K50.8 - ICD10:K50.0 - ICD10:K50.1 - ICD10:K50.8 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Crohn disease true @@ -67786,6 +67908,7 @@ + @@ -67796,6 +67919,7 @@ ICD11:LD24.H UMLS:C4304839 Copenhagen syndrome + PAVF Progressive non-infectious anterior vertebral fusion @@ -67960,8 +68084,8 @@ - Borderline ovarian epithelial tumor - Ovarian tumor of low malignant potential + OBSOLETE: Borderline ovarian epithelial tumor + OBSOLETE: Ovarian tumor of low malignant potential This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Malignant epithelial tumor of ovary OBSOLETE: Borderline epithelial tumor of ovary true @@ -68757,7 +68881,9 @@ A rare, syndromic, hyperpigmentation of the skin characterized by multiple lentigines and café-au-lait spots associated with hiatal hernia and peptic ulcer, hypertelorism and myopia. There have been no further descriptions in the literature since 1982. + ICD-10:Q85.8 ICD-11:EC23.1 + ICD10:Q85.8 ICD11:EC23.1 MESH:C535651 MeSH:C535651 @@ -68835,7 +68961,7 @@ ICD11:8C71.2 MESH:D009224 MeSH:D009224 - MedDRA:10028655 + MedDRA:10049841 Congenital myotonia @@ -69421,7 +69547,7 @@ A rare neurologic disease characterized by excessive daytime sleepiness associated with uncontrollable sleep urges and cataplexy (sudden loss of muscle tone while awake, often triggered by pleasant emotions). ICD-10:G47.4 - ICD-11:7A20.0  + ICD-11:7A20.0 ICD10:G47.4 ICD11:7A20.0 OMIM:161400 @@ -69447,6 +69573,8 @@ Gemignani syndrome is a rare neurodegenerative disease characterized by slowly progressive ataxia, amyotrophy of the hands and distal arms, spastic paraplegia, progressive sensorineural hearing loss, hypogonadism and short stature. Additional features include generalized cerebellar atrophy and peripheral nervous system anomalies. Small cervical spinal cord, intellectual/language disability and localized vitiligo have also been reported. There have been no further descriptions in the literature since 1989. + ICD-10:G31.8 + ICD10:G31.8 MESH:C537678 MeSH:C537678 UMLS:C2931587 @@ -69670,6 +69798,8 @@ Glaucoma-sleep apnea syndrome is characterized by sleep apnoea associated with glaucoma. It has been described in five members of a family (the mother and four of her children). + ICD-10:H40.8 + ICD10:H40.8 OMIM:137763 UMLS:C4304308 Glaucoma-sleep apnea syndrome @@ -69778,7 +69908,7 @@ - Cardiac papillary fibroelastoma + OBSOLETE: Cardiac papillary fibroelastoma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare cardiac tumor OBSOLETE: Papillary fibroelastoma of the heart true @@ -69804,6 +69934,7 @@ CAPS Cryopyrin associated periodic syndrome Cryopyrinopathy + NLRP3-associated AID NLRP3-associated autoinflammatory syndrome NLRP3-associated autoinflammatory disease @@ -69947,7 +70078,7 @@ - Other neuronopathy related to autoimmune diseases + OBSOLETE: Other neuronopathy related to autoimmune diseases This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Non-paraneoplastic sensory ganglionopathy OBSOLETE: Other ganglionopathy related to autoimmune diseases true @@ -70421,6 +70552,7 @@ MESH:C563560 MeSH:C563560 OMIM:158600 + UMLS:C5780022 DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy SMALED1 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy @@ -70530,7 +70662,6 @@ MESH:C537915 MeSH:C537915 OMIM:200700 - OMIM:609441 UMLS:C0265260 Chondrodysplasia, Grebe type Acromesomelic dysplasia, Grebe type @@ -70569,11 +70700,11 @@ - FJHN type 1 - Familial juvenile gouty nephropathy - Familial nephropathy with gout - UMOD-associated FJHN - UMOD-associated familial juvenile hyperuricemic nephropathy + OBSOLETE: FJHN type 1 + OBSOLETE: Familial juvenile gouty nephropathy + OBSOLETE: Familial nephropathy with gout + OBSOLETE: UMOD-associated FJHN + OBSOLETE: UMOD-associated familial juvenile hyperuricemic nephropathy This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using UMOD-related autosomal dominant tubulointerstitial kidney disease OBSOLETE: Familial juvenile hyperuricemic nephropathy type 1 true @@ -70585,9 +70716,7 @@ - ICD-10:E07.8 - ICD10:E07.8 - Congenital isolated TBG deficiency + NON RARE IN EUROPE: Congenital isolated TBG deficiency This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Congenital isolated thyroxine-binding globulin deficiency true @@ -70599,7 +70728,7 @@ - Craniofacial and osseous defects-intellectual disability syndrome + OBSOLETE: Craniofacial and osseous defects-intellectual disability syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Grix-Blankenship-Peterson syndrome true @@ -70673,6 +70802,8 @@ A rare neurologic disease characterized by impaired ability to execute complex coordinated movements underlying the production of speech, leading to highly unintelligible speech in the absence of muscular or sensory deficits. + ICD-10:F80.0 + ICD10:F80.0 OMIM:602081 UMLS:C0750927 Isolated CAS @@ -70828,7 +70959,7 @@ ICD-11:9A96.Y ICD10:H20.2 ICD11:9A96.Y - UMLS:C0339320 + UMLS:C1444621 Endophthalmitis phacoanaphylactica Lens-induced endophthalmitis Lens-induced iridocyclitis @@ -71062,7 +71193,7 @@ ICD10:Q78.2 ICD11:LD24.10 OMIM:611497 - UMLS:C5679797 + UMLS:C0432261 Autosomal recessive intermediate osteopetrosis Intermediate osteopetrosis @@ -71187,7 +71318,9 @@ A rare disease, manifesting with idiopathic pulmonary fibrosis, hepatic nodular regenerative hyperplasia leading to portal hypertension and thrombocytopenia due to bone marrow hypoplasia. The condition was associated with 100% mortality. + ICD-10:J84.1 ICD-11:DB99.Y + ICD10:J84.1 ICD11:DB99.Y UMLS:C4510085 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome @@ -71444,8 +71577,6 @@ - ICD-10:G24.1 - ICD10:G24.1 MESH:C538002 MeSH:C538002 OMIM:607488 @@ -71512,6 +71643,7 @@ ICD-11:DA0E.8 ICD11:DA0E.8 + UMLS:C1865318 Temporomandibular joint anomaly @@ -71520,9 +71652,9 @@ - + Spindle cell hemangioma (SCH), also known as spindle cell hemangioendothelioma, is a rare benign vascular tumor either solitary or multiple, characterized by cavernous blood vessels separated by spindle cells reminiscent of those in Kaposi’s sarcoma and located in the dermis and subcutis. ICD-10:D18.0 ICD-11:2F2Y @@ -71540,10 +71672,11 @@ - + UMLS:C3839613 - Infantile hemangioma of rare localization + Infantile hemangioma of rare localization + Rare infantile hemangioma @@ -71589,6 +71722,12 @@ + + + + + + Hallermann-Streiff syndrome is a rare genetic syndrome characterized mainly by head and facial abnormalities such as bird-like facies (with beak-shaped nose and retrognathia), hypoplastic mandible, brachycephaly with frontal bossing, dental abnormalities (e.g. absence of teeth, natal teeth, supernumerary teeth, severe agenesis of permanent teeth, enamel hypoplasia) hypotrichosis, various ophthalmic disorders (e.g. congenital cataracts, bilateral microphthalmia, ptosis, nystagmus) and atrophy of skin (especially around the center of face and nose) as well as telangiectasia and proportionate short stature. Intellectual disability is reported in some cases. ICD-10:Q87.0 ICD-11:LD2B @@ -71915,7 +72054,6 @@ - OMIM:241800 CHHS This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Pallister-Hall syndrome Congenital hypothalamic hamartoma syndrome @@ -71927,9 +72065,9 @@ + - @@ -72134,9 +72272,9 @@ - + @@ -72162,7 +72300,7 @@ - + Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges. @@ -72171,7 +72309,8 @@ ICD10:Q82.8 ICD11:2E81.2Y UMLS:C0474965 - Diffuse neonatal hemangiomatosis + Diffuse neonatal hemangiomatosis + Multifocal infantile hemangioma with extracutenous involvement @@ -72180,7 +72319,6 @@ - OMIM:140850 UMLS:C0472694 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to PHACE syndrome Cavernous hemangiomas of face-supraumbilical midline raphe syndrome @@ -72269,7 +72407,7 @@ - HIPO syndrome + OBSOLETE: HIPO syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome without intellectual disability OBSOLETE: Hemihypertrophy-intestinal web-corneal opacity syndrome true @@ -72281,6 +72419,7 @@ + A rare lysosomal disease characterized by an accumulation of cystine inside the lysosomes, causing damage in different organs and tissues, particularly in the kidneys and eyes. Three clinical forms have been described: nephropathic infantile, nephropathic juvenile and ocular. @@ -72308,8 +72447,8 @@ Hemimelia is a limb malformation characterized by the absence or gross shortening of the lower portion of one or more of the limbs. The condition is designated according to which bone of the distal arm or leg is absent or defective and includes fibular, radial, tibial, or ulnar hemimelia (see these terms). Hemimelia ranges in severity. MedDRA:10019464 UMLS:C0018987 - Longitudinal meromelia - Hemimelia + Non-syndromic longitudinal meromelia + Non-syndromic hemimelia @@ -72513,7 +72652,7 @@ - Familial ovarian malignant tumor + OBSOLETE: Familial ovarian malignant tumor This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Malignant non-epithelial tumor of ovary OBSOLETE: Familial ovarian cancer true @@ -72525,10 +72664,6 @@ - ICD-10:C56 - ICD-11:2C73.Y - ICD10:C56 - ICD11:2C73.Y UMLS:C4749652 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hereditary breast and ovarian cancer syndrome Hereditary site-specific ovarian cancer syndrome @@ -73029,7 +73164,7 @@ - Endometrial adenoid cystic carcinoma + OBSOLETE: Endometrial adenoid cystic carcinoma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Adenoid cystic carcinoma of the cervix uteri OBSOLETE: Adenoid cystic carcinoma of the corpus uteri true @@ -73349,7 +73484,7 @@ - Cervical papillary carcinoma + OBSOLETE: Cervical papillary carcinoma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Squamous cell carcinoma of the cervix uteri OBSOLETE: Papillary carcinoma of the cervix uteri true @@ -73862,7 +73997,7 @@ - Wiedemann-Oldigs-Oppermann syndrome + OBSOLETE: Wiedemann-Oldigs-Oppermann syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare syndromic intellectual disability OBSOLETE: Hirsutism-skeletal dysplasia-intellectual disability syndrome true @@ -74025,8 +74160,6 @@ - ICD-10:H90.5 - ICD10:H90.5 Isolated prelingual genetic deafness Isolated prelingual genetic hearing loss Prelingual non-syndromic genetic hearing loss @@ -74041,8 +74174,6 @@ - ICD-10:H90.5 - ICD10:H90.5 Isolated postlingual genetic deafness Isolated postlingual genetic hearing loss Postlingual non-syndromic genetic hearing loss @@ -74339,6 +74470,12 @@ + + + + + + @@ -74438,6 +74575,12 @@ + + + + + + @@ -74576,6 +74719,7 @@ ICD10:G23.0 ICD11:5C64.10 OMIM:234200 + UMLS:C5568621 NBIA1, atypical form Neurodegeneration with brain iron accumulation type 1, atypical form PKAN, atypical form @@ -74750,8 +74894,6 @@ - ICD-10:Q81.8 - ICD10:Q81.8 UMLS:C0432322 DDEB, Pasini type This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant generalized dystrophic epidermolysis bullosa @@ -74875,10 +75017,10 @@ - Atypical HUS with thrombomodulin anomaly - D- HUS with thrombomodulin anomaly - Hemolytic uremic syndrome without diarrhea with thrombomodulin anomaly - aHUS with thrombomodulin anomaly + OBSOLETE: Atypical HUS with thrombomodulin anomaly + OBSOLETE: D- HUS with thrombomodulin anomaly + OBSOLETE: Hemolytic uremic syndrome without diarrhea with thrombomodulin anomaly + OBSOLETE: aHUS with thrombomodulin anomaly This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Atypical hemolytic uremic syndrome with complement gene abnormality OBSOLETE: Atypical hemolytic uremic syndrome with thrombomodulin anomaly true @@ -74916,8 +75058,6 @@ - ICD-10:E66.8 - ICD10:E66.8 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Obesity due to MC3R deficiency true @@ -74929,8 +75069,6 @@ - ICD-10:N46 - ICD10:N46 Azoospermia due to maturation arrest Azoospermia due to meiosis defect Male infertility with normal virilization due to maturation arrest @@ -75002,7 +75140,6 @@ - @@ -75020,8 +75157,8 @@ OMIM:119900 UMLS:C0345408 Isolated congenital acropachy - Isolated congenital nail clubbing - Isolated congenital digital clubbing + Isolated congenital digital clubbing + Isolated nail clubbing @@ -75123,6 +75260,7 @@ ICD10:E76.1 ICD11:5C56.31 OMIM:309900 + UMLS:C0342841 Hunter syndrome type A Iduronate 2-sulfatase deficiency type A MPS2A @@ -75195,7 +75333,7 @@ ICD10:G13.1 MESH:D060426 MeSH:D060426 - UMLS:C2986717 + UMLS:C5700343 Limbic encephalitis with N-methyl-D-aspartate receptor antibodies Limbic encephalitis with NMDA receptor antibodies N-methyl-D-aspartate receptor encephalitis @@ -75263,9 +75401,6 @@ - ICD-10:Q82.8 - ICD10:Q82.8 - OMIM:216550 UMLS:C1854061 Cutis verticis gyrata-retinitis pigmentosa-neurosensory deafness syndrome Cutis verticis gyrata-retinitis pigmentosa-neurosensory hearing loss syndrome @@ -75415,7 +75550,7 @@ ICD10:E88.8 ICD11:5C53.23 OMIM:613070 - UMLS:C5679818 + UMLS:C4304057 Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins @@ -75476,6 +75611,9 @@ MeSH:C567791 OMIM:613068 UMLS:C2751584 + Cerebral folate deficiency + Cerebral folate transport deficiency + Folate receptor alpha deficiency Neurodegenerative syndrome due to cerebral folate transport deficiency @@ -75620,7 +75758,7 @@ - Circumscribed lymphangioma + OBSOLETE: Circumscribed lymphangioma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Macrocystic lymphatic malformation OBSOLETE: Circumscribed lymphatic malformation true @@ -75774,6 +75912,7 @@ + UMLS:C5397268 GSD with hypertrophic cardiomyopathy Glycogenosis with hypertrophic cardiomyopathy Glycogen storage disease with hypertrophic cardiomyopathy @@ -75786,6 +75925,7 @@ + UMLS:C5397275 Lysosomal disease with hypertrophic cardiomyopathy @@ -75853,7 +75993,6 @@ ICD10:E78.8 ICD11:EE6Y OMIM:228600 - OMIM:236490 Infantile systemic hyalinosis @@ -75863,6 +76002,7 @@ + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-familial hypertrophic cardiomyopathy OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training true @@ -75965,7 +76105,7 @@ ICD-10:I42.0 ICD10:I42.0 OMIM:605362 - UMLS:C5679819 + UMLS:C4510220 Neurosensory deafness with dilated cardiomyopathy Neurosensory hearing loss with dilated cardiomyopathy Sensorineural hearing loss with dilated cardiomyopathy @@ -76222,6 +76362,8 @@ A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature. + ICD-10:Q87.1 + ICD10:Q87.1 UMLS:C4303476 Sengers-Hamel-Otten syndrome Hydrocephalus-obesity-hypogonadism syndrome @@ -76237,6 +76379,8 @@ A rare multiple congenital anomalies/dysmorphic syndrome characterized by congenital hydrocephalus involving the lateral ventricles, low-set umbilicus, bilateral inguinal hernia, and mild facial dysmorphism (such as epicanthal folds, broad, flat nasal bridge, and small, bulbous nose). Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot. There have been no further descriptions in the literature since 1993. + ICD-10:Q87.0 + ICD10:Q87.0 MESH:C538107 MeSH:C538107 UMLS:C2931734 @@ -76250,7 +76394,7 @@ - RCM3 + OBSOLETE: RCM3 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial isolated restrictive cardiomyopathy OBSOLETE: Familial restrictive cardiomyopathy type 3 true @@ -76758,7 +76902,9 @@ Xeroderma pigmentosum/Cockayne syndrome complex (XP/CS complex) is characterized by the cutaneous features of xeroderma pigmentosum (XP) (see this term) together with the systemic and neurological features of Cockayne syndrome (CS; see this term). + ICD-10:Q87.1 ICD-11:LD2B + ICD10:Q87.1 ICD11:LD2B OMIM:278730 OMIM:278760 @@ -76957,6 +77103,7 @@ ICD-11:LD24.1Y ICD10:M89.8 ICD11:LD24.1Y + UMLS:C5780027 Kozlowski-Tsuruta syndrome Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type @@ -77141,7 +77288,6 @@ - Rare hereditary hemochromatosis comprises the rare forms of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. These rare forms are hemochromatosis type 2 (juvenile), type 3 (TFR2-related), and type 4 (ferroportin disease) (see these terms). Hemochromatosis type 1 (also called classic hemochromatosis; see this term) is not a rare disease. Iron overload disease Rare hereditary hemochromatosis @@ -77366,6 +77512,7 @@ ICD11:LD2B OMIM:268400 OMIM:618625 + UMLS:C5231433 Poikiloderma of Rothmund-Thomson type 1 RTS1 Rothmund-Thomson syndrome type 1 @@ -77391,6 +77538,7 @@ ICD10:Q82.8 ICD11:LD2B OMIM:268400 + UMLS:C5203410 Poikiloderma of Rothmund-Thomson type 2 RTS2 Rothmund-Thomson syndrome type 2 @@ -77598,7 +77746,6 @@ ICD11:8B88.2 MESH:D019569 MeSH:D019569 - UMLS:C0278152 UMLS:C1841639 Facial hemispasm Focal myoclonus of face @@ -77803,7 +77950,9 @@ A rare combined immunodeficiency disorder characterized by primary immunodeficiency manifesting with repeated bacterial, viral and fungal infections, in association with neurological manifestations (hypotonia, cerebellar ataxia, myoclonic seizures), developmental delay, optic atrophy, facial dysmorphism (high forehead, hypoplastic supraorbital ridges, palpebral edema, hypertelorism, flat nasal bridge, broad nasal root and tip, anteverted nares, thin lower lip overlapped by upper lip, square chin) and skeletal anomalies (short metacarpals/metatarsals with cone-shaped epiphyses, osteopenia). ICD-10:Q87.8 + ICD-11:4A01.1Y ICD10:Q87.8 + ICD11:4A01.1Y MESH:C567641 MeSH:C567641 OMIM:613328 @@ -78075,9 +78224,7 @@ - ICD-10:K00.0 - ICD10:K00.0 - Tooth agenesis + NON RARE IN EUROPE: Tooth agenesis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Hypodontia true @@ -78175,7 +78322,8 @@ OMIM:125800 OMIM:304800 UMLS:C0162283 - Nephrogenic diabetes insipidus + Nephrogenic diabetes insipidus + Arginine vasopressin resistance @@ -78266,6 +78414,8 @@ A rare endocrine syndrome characterized by the association of hypogonadotropic hypogonadism (with primary amenorrhea and lack of secondary sexual development) and retinitis pigmentosa. + ICD-10:E23.0 + ICD10:E23.0 MESH:C538075 MeSH:C538075 UMLS:C2931722 @@ -78411,6 +78561,9 @@ ICD11:KB60.2 MedDRA:10028933 UMLS:C0158981 + Congenital diabetes mellitus + Diabetes of infancy + Monogenic diabetes of infancy NDM Neonatal diabetes mellitus @@ -78570,22 +78723,18 @@ - - - - - - - + MESH:C536246 MeSH:C536246 MedDRA:10086189 OMIM:520000 UMLS:C0342289 - MIDD - Maternally-inherited diabetes and hearing loss - Mitochondrial diabetes - Maternally-inherited diabetes and deafness + NON RARE IN EUROPE: MIDD + NON RARE IN EUROPE: Maternally-inherited diabetes and hearing loss + NON RARE IN EUROPE: Mitochondrial diabetes + This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. + NON RARE IN EUROPE: Maternally-inherited diabetes and deafness + true @@ -78653,7 +78802,9 @@ A form of rare hemochromatosis (HC) characterized by excessive tissue iron deposition of genetic origin and presenting with liver disease, hypogonadism, arthritis, diabetes and skin pigmentation. ICD-10:E83.1 + ICD-11:5C64.10 ICD10:E83.1 + ICD11:5C64.10 MESH:C537248 MeSH:C537248 OMIM:604250 @@ -78868,6 +79019,8 @@ MeSH:C536714 OMIM:600001 UMLS:C2931296 + PACHD + Pancreatic agenesis and congenital heart defects syndrome Yorifuji-Okuno syndrome Pancreatic hypoplasia-diabetes-congenital heart disease syndrome @@ -79040,7 +79193,7 @@ - Familial essential thrombocythemia + OBSOLETE: Familial essential thrombocythemia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Essential thrombocythemia OBSOLETE: Inherited predisposition to essential thrombocythemia true @@ -79059,7 +79212,7 @@ - Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties. + A rare form of hyperphenylalaninemia due to tetrahydropterin (BH4) recycling deficiency, leading to central dopamine and serotonin deficiency, clinically characterized by infantile-onset neurological disease of variable severity ranging from mild forms with minor neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism. Some patients may present refractory neurological symptoms like a degree of developmental delay, epilepsy and brain abnormalities. ICD-10:E70.1 ICD-11:5C59.01 ICD10:E70.1 @@ -79273,7 +79426,7 @@ - Sidransky-Feinstein-Goodman syndrome + OBSOLETE: Sidransky-Feinstein-Goodman syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autosomal ichthyosis syndrome with other associated signs OBSOLETE: Ichthyosis-cheek-eyebrow syndrome true @@ -79288,6 +79441,12 @@ + + + + + + @@ -79312,7 +79471,7 @@ - The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9. + A rare autosomal recessive syndrome with combined immunodeficiency characterized by the clinical triad of immunodeficiency, centromeric instability and facial anomalies (abbreviated ICF syndrome). The immunodeficiency is with panhypogammaglobulinemia, and a lack of memory (CD19+CD27+) B cells in the peripheral blood, although B and T-cell counts are normal. Anomalies and rearrangements associated with DNA hypomethylation in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9, in mitogen-stimulated lymphocytes, is a hallmark of the syndrome. The typical facial anomalies include hypertelorism, low-set ears, epicanthus and macroglossia. ICD-10:D84.8 ICD-11:4A01.00 ICD10:D84.8 @@ -79323,6 +79482,7 @@ OMIM:616911 UMLS:C0398788 Immunodeficiency-centromeric instability-facial anomalies syndrome + Immunodeficiency-centromeric instability-facial dysmorphism syndrome ICF syndrome @@ -79395,7 +79555,9 @@ Ichthyosis-oral and digital anomalies syndrome is characterised by ichthyosis, unusual facies (small mouth with a thin upper lip and lower lip with a midline groove) and digital anomalies (tapered fingers with a lack of distal flexion creases and wide spacing between the second and third fingers). It has been described in two sibs born to first cousin parents. Transmission appears to be autosomal recessive. + ICD-10:Q87.8 ICD-11:LD27.2 + ICD10:Q87.8 ICD11:LD27.2 OMIM:258840 UMLS:C4518538 @@ -79421,7 +79583,9 @@ Ichthyosis follicularis - alopecia - photophobia (IFAP) is a rare genetic disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth. + ICD-10:Q80.8 ICD-11:LD27.2 + ICD10:Q80.8 ICD11:LD27.2 MESH:C536085 MeSH:C536085 @@ -79522,7 +79686,7 @@ - Hereditary flecked retinopathy + OBSOLETE: Hereditary flecked retinopathy This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Inherited retinal disorder OBSOLETE: Familial flecked retinopathy true @@ -79574,6 +79738,8 @@ Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome is characterised by nonbullous congenital ichthyosis, intellectual deficit, dwarfism and renal impairment. It has been described in four members of one Iranian family. Transmission is autosomal recessive. + ICD-10:Q87.1 + ICD10:Q87.1 MESH:C536274 MeSH:C536274 OMIM:242530 @@ -79684,6 +79850,7 @@ ICD-11:4A00.2 ICD10:D72.8 ICD11:4A00.2 + MedDRA:10083934 OMIM:615518 UMLS:C4706550 Idiopathic CD4 lymphocytopenia @@ -80264,7 +80431,9 @@ Familial anetoderma is an extremely rare genetic skin disease characterized by loss of elastin tissue leading to localized areas of flaccid skin and a family history of the disorder. ICD-10:L90.8 + ICD-11:EE41.1 ICD10:L90.8 + ICD11:EE41.1 UMLS:C4518793 Hereditary anetoderma Hereditary macular atrophy @@ -80336,6 +80505,7 @@ ICD-11:EE41.Y ICD10:L98.8 ICD11:EE41.Y + MedDRA:10081688 UMLS:C4728147 Mid-dermal elastolysis @@ -80480,10 +80650,19 @@ - - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis - OBSOLETE: CLN1 disease - true + + + + + + + + + + + Haltia-Santavuori disease + Neuronal ceroid cipofuscinosis type 1 + CLN1 disease @@ -80491,10 +80670,19 @@ - - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis - OBSOLETE: CLN10 disease - true + + + + + + + + + + + CNCL + Neuronal ceroid cipofuscinosis type 10 + CLN10 disease @@ -80503,7 +80691,7 @@ - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using CLN6 disease OBSOLETE: CLN4A disease true @@ -80513,10 +80701,20 @@ - - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis - OBSOLETE: CLN4B disease - true + + + + + + + + + + + CLN4B disease + Neuronal ceroid lipofuscinosis type 4 + Parry disease + CLN4 disease @@ -80524,12 +80722,21 @@ - + + + + + + + + + + + Batten-Spielmeyer-Vogt-Sjögren disease Classic juvenile NCL Classic juvenile neuronal ceroid lipofuscinosis - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis - OBSOLETE: CLN3 disease - true + Neuronal ceroid lipofuscinosis type 3 + CLN3 disease @@ -80537,12 +80744,18 @@ - - Classic late infantile NCL - Classic late infantile neuronal ceroid lipofuscinosis - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis - OBSOLETE: CLN2 disease - true + + + + + + + + + + + Neuronal ceroid cipofuscinosis type 2 + CLN2 disease @@ -80550,10 +80763,18 @@ - - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis - OBSOLETE : CLN8 disease - true + + + + + + + + + + + Neuronal ceroid cipofuscinosis type 8 + CLN8 disease @@ -80572,10 +80793,19 @@ - - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis - OBSOLETE: CLN5 disease - true + + + + + + + + + + + Céroïde lipofuscinose neuronale de type 5 + Neuronal ceroid cipofuscinosis type 5 + CLN5 disease @@ -80583,10 +80813,19 @@ - - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis - OBSOLETE: CLN6 disease - true + + + + + + + + + + + Neuronal ceroid cipofuscinosis type 6 + vLINCL + CLN6 disease @@ -80594,10 +80833,20 @@ - - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis - OBSOLETE: CLN7 disease - true + + + + + + + + + + + Neuronal ceroid cipofuscinosis type 7 + Turkish variant late infantile + vLINCL + CLN7 disease @@ -80674,12 +80923,10 @@ - - - - + + The newly described 5q14.3 microdeletion syndrome includes severe intellectual deficit with no speech, stereotypic movements and epilepsy. ICD-10:Q93.5 ICD-11:LD44.50 @@ -80764,7 +81011,7 @@ - Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism. + A rare opthalmic disorder characterized by bilateral ptosis, upper ocular movement limitation, absence of the lacrimal punctum and facial dysmorphism including, narrow and squared forehead, bilateral thick and arched eyebrows, absence of bilateral lower medial eyelashes, telechantus, mild anteverted nostrils, a relatively long philtrum and maxillary hypoplasia. Some patients may have low set and dysplastic ears. ICD-10:Q87.0 ICD10:Q87.0 UMLS:C4510249 @@ -80847,8 +81094,6 @@ - ICD-10:Q87.8 - ICD10:Q87.8 OMIM:213980 TMCO1 defect syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cerebrofaciothoracic dysplasia @@ -80867,18 +81112,14 @@ - - - - - - A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay. ICD-10:Q87.8 ICD10:Q87.8 UMLS:C4509918 PHD syndrome - Polyvalvular heart disease syndrome + Polyvalvular heart disease syndrome + TAB2-related syndrome + Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome @@ -80913,7 +81154,7 @@ - MCSZ + OBSOLETE: MCSZ This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Early infantile epileptic encephalopathy OBSOLETE: Microcephaly-seizures-developmental delay syndrome true @@ -80924,9 +81165,9 @@ - + @@ -80940,12 +81181,8 @@ ICD11:4A00.2 OMIM:614172 UMLS:C3280030 - Combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections - Dendritic cell, monocyte, B and NK lymphoid deficiency - MonoMAC - Monocyte-B-natural killer-dendritic cell deficiency syndrome - Monocytopenia and mycobacterial infection syndrome - Monocytopenia with susceptibility to infections + GATA binding protein 2 deficiency spectrum + GATA2 deficiency spectrum @@ -80984,8 +81221,6 @@ - ICD-10:E88.1 - ICD10:E88.1 OMIM:613327 UMLS:C2750069 GCL4 @@ -81019,8 +81254,8 @@ - SMMCI - Single upper central incisor + OBSOLETE: SMMCI + OBSOLETE: Single upper central incisor This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Microform holoprosencephaly OBSOLETE: Solitary median maxillary central incisor syndrome true @@ -81070,6 +81305,7 @@ ICD11:8A0Y MESH:C537395 MeSH:C537395 + MedDRA:10084235 OMIM:603472 UMLS:C1863843 Neuronal intranuclear inclusion disease @@ -81519,6 +81755,7 @@ + @@ -81533,6 +81770,7 @@ OMIM:147791 UMLS:C0795841 11q terminal deletion syndrome + Chromosome 11q deletion syndrome Del(11)(q23.3) Del(11)(qter) Distal deletion 11q @@ -81611,8 +81849,6 @@ - ICD-10:Q79.6 - ICD10:Q79.6 COL1A1-cEDS Classic EDS-like with a propensity for arterial rupture Classical EDS due to COL1A1 p.(Arg312Cys) @@ -81792,7 +82028,7 @@ ICD-10:Q87.2 ICD10:Q87.2 OMIM:246000 - UMLS:C5680711 + UMLS:C4274843 Absence deformity of leg-cataract syndrome @@ -82593,8 +82829,6 @@ - ICD-10:L67.8 - ICD10:L67.8 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Trichothiodystrophy Beta-thalassemia-trichothiodystrophy syndrome true @@ -82655,12 +82889,6 @@ - - - - - - A very rare primary immunodeficiency disorder characterized by the clinical triad of high serum IgE (>2000 IU/ml), recurring staphylococcal skin abscesses, and recurrent pneumonia with formation of pneumatoceles. ICD-10:D82.4 ICD-11:4A01.34 @@ -82998,10 +83226,6 @@ - ICD-10:E70.3 - ICD-11:EC23.20 - ICD10:E70.3 - ICD11:EC23.20 OMIM:614077 HPS8 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hermansky-Pudlak syndrome due to BLOC-1 deficiency @@ -83122,6 +83346,8 @@ A very rare surgically-correctable form of primary aldosteronism (PA) due to an aldosterone-secreting adrenal malignancy. + ICD-10:C74.0 + ICD10:C74.0 UMLS:C5679847 Pure APAC Pure aldosterone-producing adrenocortical carcinoma @@ -83225,7 +83451,6 @@ MESH:C567564 MeSH:C567564 OMIM:612781 - OMIM:618157 UMLS:C2748571 Congenital IGHD type IB Congenital isolated GH deficiency type IB @@ -83502,6 +83727,7 @@ ICD-11:LD2F.Y ICD11:LD2F.Y + UMLS:C5439342 Infectious embryofetopathy @@ -83769,7 +83995,7 @@ - Kasabach-Merritt syndrome (KMS), also known as hemangioma-thrombocytopenia syndrome, is a rare disorder characterized by profound thrombocytopenia, microangiopathic hemolytic anemia, and subsequent consumptive coagulopathy in association with vascular tumors, particularly kaposiform hemangioendothelioma or tufted angioma. + A rare hemorrhagic disorder characterized by potentially life-threatening thrombocytopenia, microangiopathic hemolytic anemia, and consumptive coagulopathy in the context of kaposiform hemangioendothelioma or tufted angioma. ICD-10:D18.0 ICD-11:KA8Y ICD10:D18.0 @@ -83876,7 +84102,7 @@ - Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia. + A rare genetic inflammatory corneal disorder characterized by anterior stromal corneal opacification and vascularization of the peripheral cornea with potential central progression and subsequent reduction in visual acuity. Variable features include abnormalities of the iris, such as stromal defects and ectropion uveae, as well as foveal hypoplasia. ICD-10:H16.8 ICD-11:9A7Y ICD10:H16.8 @@ -83926,7 +84152,7 @@ - A rare, isolated, diffuse palmoplantar keratoderma disorder characterized by diffuse, homogeneous, mild to thick, yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers), which presents a white spongy appearance following exposure to water, frequently associated with dermatophyte infections. Hyperhydrosis is usually present and skin biopsy shows non-epidermolytic changes. + A rare isolated diffuse palmoplantar keratoderma characterized by diffuse, homogeneous, mild to thick, brown-to-yellowish palmoplantar hyperkeratosis (sometimes spreading over the dorsal aspect of fingers). Skin biopsy shows non-epidermolytic changes. There are no changes in hair, teeth or nails, and no syndromic involvement of other organs. ICD-10:Q82.8 ICD-11:EC20.30 ICD10:Q82.8 @@ -84143,6 +84369,7 @@ ICD11:LD26.60 MESH:D007715 MeSH:D007715 + MedDRA:10051452 OMIM:149000 OMIM:608354 OMIM:608355 @@ -84682,7 +84909,7 @@ MedDRA:10023871 OMIM:150360 UMLS:C0152416 - Congenital laryngeal web + Isolated congenital laryngeal web @@ -84730,6 +84957,7 @@ MedDRA:10056710 OMIM:245800 UMLS:C0023138 + LMS Laurence-Moon syndrome @@ -84796,14 +85024,10 @@ - - - - Digestive duplication is a rare developmental defect during embryogenesis characterized by cystic, spherical or tubular structures (communicating or not with the lumen), located on a segment of the digestive tract (from the mouth cavity to anus), and constituted of a wall with a double smooth muscle layer and a digestive mucosa. The malformation may be asymptomatic or manifest with various signs including abdominal mass, abdominal pain, transit troubles or subocclusive syndrome. Mild digestive hemorrhage, perforation, pancreatitis and neonatal respiratory distress are possible complications. - ICD-10:Q45.8 - ICD10:Q45.8 - UMLS:C5681230 - Digestive duplication + + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic intestinal malformation + OBSOLETE: Digestive duplication + true @@ -84823,7 +85047,7 @@ A rare disorder characterized by uni- or bilateral avascular necrosis (AVN) of the femoral head in children. ICD-10:M91.1 - ICD-11:FB82.1  + ICD-11:FB82.1 ICD10:M91.1 ICD11:FB82.1 MESH:D007873 @@ -84983,6 +85207,8 @@ ICD-11:LD41.E ICD10:Q92.3 ICD11:LD41.E + MESH:C557830 + MeSH:C557830 OMIM:608636 UMLS:C4304726 15q11q13 duplication syndrome @@ -85142,9 +85368,11 @@ - + + + @@ -85166,12 +85394,10 @@ - - - - - UMLS:C0024314 - Lymphoproliferative syndrome + + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Inherited cancer-predisposing lymphoproliferative syndrome + OBSOLETE: Lymphoproliferative syndrome + true @@ -85324,7 +85550,7 @@ - An amino acid disorder with neonatal onset that is clinically characterized by the classic manifestations of phenylketonuria (PKA) and that later on is clinically differentiated by neurologic symptoms such as microcephaly, intellectual disability, central hypotonia, delayed motor development, peripheral spasticity and seizures, that develop and persist despite an established metabolic control of plasma phenylalanine. + A disorder of pterin metabolism characterized by tetrahydropterin (BH4) biosynthesis or recycling deficiencies, leading to central dopamine and serotonin deficiency, characterized by infantile-onset neurological disease of variable severity ranging from mild forms with minor neurological development to severe forms with hypotonia, developmental delay, complex movement disorder dominated by dystonia or dystonia parkinsonism. ICD-10:E70.1 ICD10:E70.1 OMIM:233910 @@ -85333,7 +85559,6 @@ OMIM:264070 UMLS:C0751436 Hyperphenylalaninemia due to BH4 deficiency - Non-phenylketonuric hyperphenylalaninemia Hyperphenylalaninemia due to tetrahydrobiopterin deficiency @@ -85384,7 +85609,7 @@ - Primary orthostatic tremor (POT), or ``shaky legs syndrome'', is a rare movement disorder characterized by fast, task-specific tremor, affecting the legs and trunk while standing. + A rare tremor disorder characterized by an isolated high frequency (>12Hz) tremor that occurs when standing, typically in weight-bearing muscles, causing a feeling of unsteadiness or discomfort, which disappears when not standing. ICD-10:G25.2 ICD-11:8A04.1 ICD10:G25.2 @@ -85424,12 +85649,6 @@ - ICD-10:G30.0 - ICD-10:G30.1 - ICD-10:G30.8 - ICD10:G30.0 - ICD10:G30.1 - ICD10:G30.8 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Alzheimer disease true @@ -85465,6 +85684,7 @@ ICD11:8D60.Y MESH:D011559 MeSH:D011559 + MedDRA:10078904 OMIM:243200 UMLS:C0033845 Benign intracranial hypertension @@ -85619,7 +85839,7 @@ - Congenital hepatic hemangioma + OBSOLETE: Congenital hepatic hemangioma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital hemangioma OBSOLETE: Congenital liver hemangioma true @@ -85781,7 +86001,7 @@ - LGMD1H + OBSOLETE: LGMD1H This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Progressive muscular dystrophy OBSOLETE: Autosomal dominant limb-girdle muscular dystrophy type 1H true @@ -85817,8 +86037,6 @@ - ICD-10:Q93.5 - ICD10:Q93.5 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to 8q21.11 microdeletion syndrome Ptosis-syndactyly-learning difficulties syndrome true @@ -86183,9 +86401,10 @@ ICD10:G23.1 ICD11:8A00.10 OMIM:260540 + UMLS:C5548370 PSP-p PSP-parkinsonism - Progressive supranuclear palsy-parkinsonism syndrome + Progressive supranuclear palsy-predominant parkinsonism syndrome @@ -86220,6 +86439,7 @@ ICD10:G23.1 ICD11:8A00.10 OMIM:260540 + UMLS:C5548189 PSP-CBS PSP-corticobasal syndrome Progressive supranuclear palsy-corticobasal syndrome @@ -86313,10 +86533,10 @@ - + - Locked-in syndrome (LIS) is a neurological condition characterized by the presence of sustained eye opening, quadriplegia or quadriparesis, anarthria, preserved cognitive functioning and a primary code of communication that uses vertical eye movements or blinking. + A rare neurologic disease characterized by severe paralysis of the limbs and the oral structures causing the person to be completely dependent on help in all activities of daily living and communication, while having preserved cognition. Most commonly, the term locked-in syndrome (LIS) is used when the condition is caused by acquired brain injury (as in this text), but sometimes also when referring to the advanced stage of certain neurodegenerative disorders. ICD-10:G83.8 ICD-11:8E45 ICD10:G83.8 @@ -86325,7 +86545,8 @@ MeSH:D000080422 MedDRA:10024792 UMLS:C0023944 - Cerebromedullospinal disconnection + LIS + Pseudocoma Locked-in syndrome @@ -86936,7 +87157,7 @@ ICD-10:E10 ICD10:E10 - Insulin-dependent diabetes mellitus + NON RARE IN EUROPE: Insulin-dependent diabetes mellitus This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Diabetes mellitus type 1 true @@ -86953,6 +87174,8 @@ Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978. + ICD-10:L81.8 + ICD10:L81.8 MESH:C537836 MeSH:C537836 UMLS:C1835172 @@ -87473,9 +87696,8 @@ - - + ICD-11:4A01.22 ICD11:4A01.22 MESH:D008232 @@ -87780,7 +88002,7 @@ - Stalker-Chitayat syndrome + OBSOLETE: Stalker-Chitayat syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial intestinal malrotation OBSOLETE: Familial intestinal malrotation-facial anomalies syndrome true @@ -87838,7 +88060,7 @@ - Opitz-Reynolds-FitzGerald syndrome + OBSOLETE: Opitz-Reynolds-FitzGerald syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary bone dysplasia OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome true @@ -88220,7 +88442,7 @@ ICD-10:G31.8 ICD10:G31.8 OMIM:615851 - UMLS:C4014488 + UMLS:C3151140 PCCA Progressive cerebello-cerebral atrophy @@ -88298,6 +88520,7 @@ Superficial siderosis is a rare neurologic disease characterized by progressive sensorineural hearing loss, cerebellar ataxia, pyramidal signs, and neuroimaging findings revealing hemosiderin deposits in the spinal and cranial leptomeninges and subpial layer. The disease progresses slowly and patients may present with mild cognitive impairment, nystagmus, dysmetria, spasticity, dysdiadochokinesia, dysarthria, hyperreflexia, and Babinski signs. Additional features reported include dementia, urinary incontinence, anosmia, ageusia, and anisocoria. ICD-10:I69.0 ICD10:I69.0 + MedDRA:10070564 Hemosiderosis of the central nervous system Superficial hemosiderosis of the CNS Superficial hemosiderosis of the central nervous system @@ -88319,6 +88542,8 @@ ICD-11:1B97 ICD10:A22.1 ICD11:1B97 + MESH:C571912 + MeSH:C571912 MedDRA:10035667 UMLS:C0155866 Inhalation anthrax disease @@ -88493,7 +88718,7 @@ - Intellectual disability-coloboma-slimness syndrome + OBSOLETE: Intellectual disability-coloboma-slimness syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: McLain-Dekaban syndrome true @@ -89115,6 +89340,7 @@ ICD11:2E80.1 MESH:D062689 MeSH:D062689 + MedDRA:10074547 UMLS:C1260965 Lipoblastoma @@ -89334,6 +89560,7 @@ + A rare genetic, peroxisomal disease characterized by childhood onset slowly progressive ataxia and axonal motor neuropathy due to PEX 10 deficieny. Marked cerebellar atrophy and pyramidal signs are evident. Patients may present mild mental retardation, intentional tremor, decreased vibration sense and diabetes mellitus. Additional features may include nystagmus, mydriasis, hyperreflexia and involuntary head movement. ICD-10:G11.8 ICD10:G11.8 UMLS:C5679614 @@ -89359,7 +89586,7 @@ ICD-10:Q82.8 ICD10:Q82.8 OMIM:613573 - UMLS:C3150807 + UMLS:C4749852 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome @@ -89375,7 +89602,7 @@ ICD-10:Q82.8 ICD10:Q82.8 OMIM:613576 - UMLS:C3150809 + UMLS:C5816683 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome @@ -89411,8 +89638,8 @@ - Oligoarticular JIA with anti-nuclear antibodies - Pauciarticular chronic arthritis with anti-nuclear antibodies + OBSOLETE: Oligoarticular JIA with anti-nuclear antibodies + OBSOLETE: Pauciarticular chronic arthritis with anti-nuclear antibodies This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Oligoarticular juvenile idiopathic arthritis OBSOLETE: Oligoarticular juvenile idiopathic arthritis with anti-nuclear antibodies true @@ -89424,8 +89651,8 @@ - Oligoarticular JIA without anti-nuclear antibodies - Pauciarticular chronic arthritis without anti-nuclear antibodies + OBSOLETE: Oligoarticular JIA without anti-nuclear antibodies + OBSOLETE: Pauciarticular chronic arthritis without anti-nuclear antibodies This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Oligoarticular juvenile idiopathic arthritis OBSOLETE: Oligoarticular juvenile idiopathic arthritis without anti-nuclear antibodies true @@ -89437,9 +89664,9 @@ - Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies - Polyarthritis without rheumatoid factor with anti-nuclear antibodies - Rheumatoid factor-negative JIA with anti-nuclear antibodies + OBSOLETE: Juvenile rheumatoid factor-negative polyarthritis with anti-nuclear antibodies + OBSOLETE: Polyarthritis without rheumatoid factor with anti-nuclear antibodies + OBSOLETE: Rheumatoid factor-negative JIA with anti-nuclear antibodies This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis with anti-nuclear antibodies true @@ -89451,9 +89678,9 @@ - Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies - Polyarthritis without rheumatoid factor without anti-nuclear antibodies - Rheumatoid factor-negative JIA without anti-nuclear antibodies + OBSOLETE: Juvenile rheumatoid factor-negative polyarthritis without anti-nuclear antibodies + OBSOLETE: Polyarthritis without rheumatoid factor without anti-nuclear antibodies + OBSOLETE: Rheumatoid factor-negative JIA without anti-nuclear antibodies This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis OBSOLETE: Rheumatoid factor-negative juvenile idiopathic arthritis without anti-nuclear antibodies true @@ -89496,6 +89723,7 @@ + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autoimmune disease with skin involvement OBSOLETE: Vitiligo-associated autoimmune disease true @@ -89789,7 +90017,7 @@ ICD10:D69.1 ICD11:3B62.3 OMIM:617443 - UMLS:C5679623 + UMLS:C0032197 Isolated delta-SPD Isolated dense-SPD Isolated dense-storage pool disease @@ -89941,7 +90169,7 @@ ICD10:D68.2 ICD11:3B14.0 OMIM:616004 - UMLS:C5680690 + UMLS:C0472803 Familial hypodysfibrinogenemia @@ -90051,7 +90279,7 @@ ICD10:Q87.8 ICD11:LD2F.1Y OMIM:146160 - UMLS:C5680722 + UMLS:C4274837 Müllerian duct anomalies-limb anomalies syndrome @@ -90238,11 +90466,13 @@ ICD-11:LD24.A ICD10:Q78.8 ICD11:LD24.A + MESH:C538069 + MeSH:C538069 OMIM:191440 UMLS:C5574958 Fryns-Hofkens-Fabry syndrome Ulna hypoplasia - Upper limb mesomelic dysplasia + Upper limb mesomelic dysplasia, type Fryns @@ -90454,7 +90684,7 @@ ICD10:Q77.8 ICD11:LD24.7 OMIM:156510 - UMLS:C5680723 + UMLS:C4510380 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome @@ -90648,7 +90878,7 @@ OMIM:106210 OMIM:617141 OMIM:617142 - UMLS:C5680707 + UMLS:C0003076 Isolated aniridia @@ -91074,7 +91304,9 @@ Ring chromosome 5 syndrome is a rare chromosomal anomaly syndrome, with high phenotypic variability, principally characterized by a neonatal mewing cry, severe developmental delay and intellectual disability, short stature, hypotonia, dysmorphic features (incl. microcephaly, facial asymmetry, hypertelorism, epicanthal folds, abnormal ears, micro/retrognathia), congenital cardiac anomalies (such as atrial and ventricular septal defect, tricuspid insufficiency, hypoplastic aorta) and skeletal abnormalities (e.g. hypoplastic thumbs, anomalous ulna/radius, dysplastic metacarpals and phalanges). ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y UMLS:C4707450 Ring 5 Ring chromosome 5 @@ -91125,7 +91357,7 @@ Del(6)(q25) Monosomy 6q25 del(6)(q25) - 6q25 microdeletion syndrome + 6q25.2q25.3 microdeletion syndrome @@ -91492,11 +91724,11 @@ - + @@ -91510,7 +91742,6 @@ ICD11:FB82.1 MESH:C580095 MeSH:C580095 - OMIM:165800 UMLS:C3665488 Osteochondritis dissecans and short stature Familial osteochondritis dissecans @@ -91764,7 +91995,7 @@ ICD-11:4A85.03 ICD10:M31.8 ICD11:4A85.03 - UMLS:C5680713 + UMLS:C0340672 Drug-induced vasculitis @@ -91866,7 +92097,7 @@ ICD11:3A51.3 ICD11:3A51.4 MedDRA:10040655 - UMLS:C5679628 + UMLS:C0221019 HbS-beta-thalassemia syndrome Sickle cell-beta-thalassemia disease syndrome @@ -92045,9 +92276,11 @@ A form of junctional epidermolysis bullosa characterized by neonatal onset of localized blistering, and dystrophic or absent nails. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings may include dental enamel hypoplasia and an increased incidence of caries. ICD-10:Q81.8 + ICD-11:EC31 ICD10:Q81.8 + ICD11:EC31 OMIM:226650 - UMLS:C0474889 + UMLS:C5700116 JEB-nH loc Junctional epidermolysis bullosa, non-Herlitz localized type Localized JEB @@ -92239,7 +92472,7 @@ MESH:C565988 MeSH:C565988 OMIM:194470 - UMLS:C1860229 + UMLS:C4760957 Hz/Hc PAMI syndrome PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome @@ -92627,7 +92860,6 @@ MeSH:D009837 MedDRA:10030286 OMIM:137800 - OMIM:616568 UMLS:C0028945 Oligodendroglioma @@ -92651,7 +92883,6 @@ ICD11:XH9QF3 MedDRA:10026659 OMIM:137800 - OMIM:616568 UMLS:C0334590 Anaplastic oligodendroglioma @@ -92773,10 +93004,8 @@ Oligoastrocytoma is a type of low-grade glioma with a mixed astrocytoma and oligodendroglioma histology, manifesting with headaches, speech and motor problems, seizures and, in some, subarachnoid haemorrhage. ICD-10:C71.9 ICD-11:2A00.0Y - ICD-11:XH6F49 ICD10:C71.9 ICD11:2A00.0Y - ICD11:XH6F49 MedDRA:10027744 UMLS:C0547065 MOA @@ -92929,6 +93158,7 @@ ICD-11:2A00.10 ICD10:C71.6 ICD11:2A00.10 + UMLS:C4330531 Anaplastic/large cell medulloblastoma @@ -93000,6 +93230,7 @@ MedDRA:10057846 + UMLS:C1333378 CNS PNET Central nervous system primitive neuroectodermal tumor Central nervous system embryonal tumor @@ -93031,12 +93262,6 @@ - ICD-10:C71.9 - ICD-11:2A00.11 - ICD-11:XH6922 - ICD10:C71.9 - ICD11:2A00.11 - ICD11:XH6922 MedDRA:10014966 UMLS:C0700367 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Embryonal tumor with multilayered rosettes @@ -93050,10 +93275,6 @@ - ICD-10:C72.9 - ICD-11:2A00.11 - ICD10:C72.9 - ICD11:2A00.11 UMLS:C5231013 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Embryonal tumor with multilayered rosettes Medulloepithelioma of the central nervous system @@ -93066,7 +93287,7 @@ - AT/RT + OBSOLETE: AT/RT This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Atypical teratoid rhabdoid tumor OBSOLETE: Atypical teratoid/rhabdoid tumor true @@ -93236,7 +93457,11 @@ A rare type of pineal parenchymal tumor (PPT) of intermediate-grade malignancy manifesting with visual disturbances, headaches, loss of coordination and balance, nausea and vomiting due to obstructive hydrocephalus, and that is classified as either grade II PPTID (pineal parenchymal tumor of intermediate differentiation) or grade III PPTID according to the degree of neuronal differentiation and mitotic activity. ICD-10:D44.5 + ICD-11:2A00.20 + ICD-11:XH1S48 ICD10:D44.5 + ICD11:2A00.20 + ICD11:XH1S48 UMLS:C1367859 Pineal parenchymal tumor of intermediate differentiation @@ -93311,7 +93536,7 @@ ICD10:D36.1 ICD11:2A00.21 ICD11:XH6KA6 - UMLS:C5190517 + UMLS:C5779630 Gangliocytoma @@ -93492,6 +93717,7 @@ ICD-11:2A00.1Y ICD10:C72.9 ICD11:2A00.1Y + UMLS:C1337040 Endodermal sinus tumor of CNS Endodermal sinus tumor of central nervous system Intracranial endodermal sinus tumor @@ -93527,6 +93753,7 @@ ICD-10:D48.7 ICD10:D48.7 + UMLS:C1332895 Teratoma of the central nervous system @@ -93542,6 +93769,7 @@ ICD-11:2A00.1Y ICD10:C72.9 ICD11:2A00.1Y + UMLS:C1334785 Mixed germ cell tumor of CNS Mixed germ cell tumor of central nervous system @@ -93697,6 +93925,7 @@ + UMLS:C5577926 BPNST Benign peripheral nerve sheath tumor @@ -94102,7 +94331,7 @@ MESH:C537554 MeSH:C537554 OMIM:156810 - UMLS:C5680811 + UMLS:C4303067 Microgastria-limb reduction defect syndrome @@ -94147,7 +94376,7 @@ - Congenital cataract-microphthalmia syndrome + OBSOLETE: Congenital cataract-microphthalmia syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated microphthalmia-anophthalmia-coloboma OBSOLETE: Microphthalmia-cataract syndrome true @@ -94523,6 +94752,8 @@ A rare, genetic disease characterized by pre-and postnatal growth delay, feeding difficulties, muscular hypotonia, motor developmental delay (with or without mild intellectual disability) and mild facial dysmorphism, such as broad, prominent forehead, short nose with flat nasal root and wide tip, downturned corners of mouth, high-arched palate and micrognathia. Additonal features include childhood-onset central obesity, premature puberty and variable bone abnormalities (e.g. small hands and feet, dolichospondyly, slender long bones and craniofacial disproportion). ICD-10:Q87.8 ICD10:Q87.8 + MESH:C000726750 + MeSH:C000726750 OMIM:616222 UMLS:C4015558 Temple syndrome @@ -94542,7 +94773,7 @@ ICD-10:Q87.8 ICD10:Q87.8 OMIM:608149 - UMLS:C1842466 + UMLS:C5779872 KOS Kagami-Ogata syndrome @@ -94787,8 +95018,6 @@ - ICD-10:D76.3 - ICD10:D76.3 FHC This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to H syndrome Faisalabad histiocytosis @@ -94801,8 +95030,6 @@ - ICD-10:D76.3 - ICD10:D76.3 Familial Rosaï-Dorfman disease Familial SHML This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to H syndrome @@ -94816,8 +95043,6 @@ - ICD-10:D76.3 - ICD10:D76.3 PHID This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to H syndrome Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome @@ -94831,6 +95056,7 @@ + UMLS:C0268192 Pyruvate metabolism disorder @@ -94898,6 +95124,7 @@ A group of rare mitochondrial oxidative phosphorylation disorders due to mitochondrial DNA anomalies characterized by progressive, most commonly proximal, myopathy with variable degrees of weakness, exercise-induced muscle pain, and fatigue. Progressive external ophthalmoplegia is often observed. Additional features include neurological signs and symptoms (such as seizures, stroke-like episodes, or developmental delay), cardiomyopathy, involvement of liver, kidneys, and gastrointestinal tract, and diabetes. Lactic acidosis is frequently present, while recurrent rhabdomyolysis and myoglobinuria are rare. Muscle biopsy may reveal the presence of ragged-red fibers and a mosaic pattern of cytochrome c oxidase-negative fibers. + UMLS:C5569013 Maternally-inherited mitochondrial myopathy mtDNA-related mitochondrial myopathy Mitochondrial DNA-related mitochondrial myopathy @@ -94909,9 +95136,9 @@ - Mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA - OXPHOS disease due to a duplication of mitochondrial DNA - OXPHOS disease due to a duplication of mtDNA + OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA + OBSOLETE: OXPHOS disease due to a duplication of mitochondrial DNA + OBSOLETE: OXPHOS disease due to a duplication of mtDNA This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies OBSOLETE: Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA true @@ -94928,6 +95155,7 @@ Mitochondrial DNA depletion syndrome, encephalomyopathic form is a group of mitochondrial DNA maintenance syndrome diseases characterized by predominantly neuromuscular manifestations with typically infantile onset of hypotonia, lactic acidosis, psychomotor delay, progressive hyperkinetic-dystonic movement disorders, external ophtalmoplegia, sensosineural hearing loss, generalized seizures and variable renal tubular dysfunction. It may be associated with a broad range of other clinical features. OMIM:612073 OMIM:612075 + UMLS:C4707428 mtDNA depletion syndrome, encephalomyopathic form Mitochondrial DNA depletion syndrome, encephalomyopathic form @@ -95407,6 +95635,12 @@ + + + + + + @@ -95490,7 +95724,7 @@ OMIM:619063 OMIM:619064 OMIM:619355 - UMLS:C0268237 + UMLS:C5779825 Isolated COX deficiency Isolated mitochondrial respiratory chain complex IV deficiency Isolated cytochrome C oxidase deficiency @@ -95554,7 +95788,6 @@ OMIM:604273 OMIM:614053 OMIM:615228 - OMIM:616045 OMIM:618120 OMIM:618683 UMLS:C4757950 @@ -95787,8 +96020,8 @@ - Sporadic Leigh disease - Sporadic infantile subacute necrotizing encephalopathy + OBSOLETE: Sporadic Leigh disease + OBSOLETE: Sporadic infantile subacute necrotizing encephalopathy This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Mitochondrial DNA-associated Leigh syndrome OBSOLETE: Sporadic Leigh syndrome true @@ -95911,6 +96144,7 @@ + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy true @@ -95974,29 +96208,6 @@ - ICD-10:G31.8 - ICD-11:5C53.24 - ICD10:G31.8 - ICD11:5C53.24 - OMIM:252010 - OMIM:256000 - OMIM:616277 - OMIM:618222 - OMIM:618224 - OMIM:618225 - OMIM:618226 - OMIM:618228 - OMIM:618229 - OMIM:618230 - OMIM:618233 - OMIM:618235 - OMIM:618239 - OMIM:618240 - OMIM:618241 - OMIM:618243 - OMIM:618244 - OMIM:618248 - OMIM:618249 UMLS:C5679635 Infantile subacute necrotizing encephalopathy with leukodystrophy Leigh disease with leukodystrophy @@ -96011,12 +96222,6 @@ - ICD-10:G31.8 - ICD-11:5C53.24 - ICD10:G31.8 - ICD11:5C53.24 - OMIM:607426 - OMIM:614652 UMLS:C5190833 Infantile subacute necrotizing encephalopathy with nephrotic syndrome Leigh disease with nephrotic syndrome @@ -96683,13 +96888,13 @@ Myalgia-eosinophilia syndrome associated with tryptophan is a rare systemic disease characterized by severe myalgia and peripheral eosinophilia associated with tryptophan dietary supplementation. The symptoms do not subside after tryptophan discontinuation. Clinical presentation includes muscle tenderness and cramps, fatigue, weakness, paresthesia, peripheral edema, arthralgia, dyspnea, skin rash, dry mouth, and development of scleroderma-like skin abnormalities. ICD-10:M35.8 - ICD-11:4A43.Y  + ICD-11:4A43.Y ICD10:M35.8 ICD11:4A43.Y MESH:D016603 MeSH:D016603 MedDRA:10014952 - UMLS:C5680853 + UMLS:C1275050 Myalgia-eosinophilia syndrome associated with tryptophan @@ -96777,9 +96982,9 @@ - + @@ -98382,7 +98587,9 @@ A rare chromosomal anomaly characterized by complex glycerol kinase deficiency, congenital adrenal hypoplasia, intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes. ICD-10:Q99.8 + ICD-11:LD51 ICD10:Q99.8 + ICD11:LD51 OMIM:300679 UMLS:C0795887 Complex GKD @@ -98414,7 +98621,7 @@ ICD10:Q99.8 ICD11:LD51 OMIM:300869 - UMLS:C5679678 + UMLS:C4305103 Dup(X)(q27.3q28) Trisomy Xq27.3-q28 Trisomy Xq27.3q28 @@ -98492,9 +98699,9 @@ - Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion - Retinitis pigmentosa and intellectual disability due to del(X)(p11.3) - retinitis pigmentosa and intellectual disability due to del(x)(p11.3) + OBSOLETE: Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion + OBSOLETE: Retinitis pigmentosa and intellectual disability due to del(X)(p11.3) + obsolete: retinitis pigmentosa and intellectual disability due to del(x)(p11.3) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using X-linked intellectual disability-retinitis pigmentosa syndrome OBSOLETE: Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3 true @@ -98502,7 +98709,7 @@ - retinitis pigmentosa and intellectual disability due to del(x)(p11.3) + obsolete: retinitis pigmentosa and intellectual disability due to del(x)(p11.3) @@ -98660,7 +98867,7 @@ - Blepharophimosis types 1 and 2 due to a point mutation + OBSOLETE: Blepharophimosis types 1 and 2 due to a point mutation This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Blepharophimosis-ptosis-epicanthus inversus syndrome OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome true @@ -98672,8 +98879,8 @@ - Blepharophimosis types 1 and 2 due to copy number variations - Blepharophimosis-epicanthus inversus-ptosis due to a CNV + OBSOLETE: Blepharophimosis types 1 and 2 due to copy number variations + OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a CNV This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Blepharophimosis-ptosis-epicanthus inversus syndrome OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations true @@ -98826,6 +99033,7 @@ ICD10:Q44.7 ICD11:LB20.0Y OMIM:610205 + UMLS:C1857761 Alagille-Watson syndrome due to a NOTCH2 point mutation Arteriohepatic dysplasia due to a NOTCH2 point mutation Syndromic bile duct paucity due to a NOTCH2 point mutation @@ -99556,6 +99764,7 @@ ICD11:LD44.B1 MESH:C538295 MeSH:C538295 + UMLS:C2931801 Partial deletion of chromosome 11p Partial monosomy of chromosome 11p Partial monosomy of the short arm of chromosome 11 @@ -99587,6 +99796,7 @@ ICD-11:LD44.H1 ICD11:LD44.H1 + UMLS:C5679671 Partial deletion of chromosome 17p Partial monosomy of chromosome 17p Partial monosomy of the short arm of chromosome 17 @@ -99633,6 +99843,7 @@ ICD-11:LD44.L1 ICD11:LD44.L1 + UMLS:C5679673 Partial deletion of chromosome 20p Partial monosomy of chromosome 20p Partial monosomy of the short arm of chromosome 20 @@ -99801,6 +100012,7 @@ ICD-11:LD44.90 ICD11:LD44.90 + UMLS:C5679677 Partial deletion of chromosome 9q Partial monosomy of chromosome 9q Partial monosomy of the long arm of chromosome 9 @@ -99836,6 +100048,7 @@ ICD11:LD44.B0 MESH:C538296 MeSH:C538296 + UMLS:C2931804 Partial deletion of chromosome 11q Partial monosomy of chromosome 11q Partial monosomy of the long arm of chromosome 11 @@ -99848,7 +100061,7 @@ - Christian-Rosenberg syndrome + OBSOLETE: Christian-Rosenberg syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Other immunodeficiency syndrome with predominantly antibody defects OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome true @@ -99879,6 +100092,7 @@ MESH:C538031 MeSH:C538031 + UMLS:C2931697 Partial deletion of chromosome 14q Partial monosomy of chromosome 14q Partial monosomy of the long arm of chromosome 14 @@ -99894,6 +100108,7 @@ MESH:C538038 MeSH:C538038 + UMLS:C2931708 Partial deletion of chromosome 15q Partial monosomy of chromosome 15q Partial monosomy of the long arm of chromosome 15 @@ -99909,6 +100124,7 @@ ICD-11:LD44.G0 ICD11:LD44.G0 + UMLS:C4736186 Partial deletion of chromosome 16q Partial monosomy of chromosome 16q Partial monosomy of the long arm of chromosome 16 @@ -100016,6 +100232,7 @@ + UMLS:C4518488 Partial trisomy of chromosome 1 Partial duplication of chromosome 1 @@ -100027,6 +100244,7 @@ + UMLS:C4518490 Partial trisomy of chromosome 2 Partial duplication of chromosome 2 @@ -100038,6 +100256,7 @@ + UMLS:C4518491 Partial trisomy of chromosome 3 Partial duplication of chromosome 3 @@ -100049,6 +100268,7 @@ + UMLS:C4518492 Partial trisomy of chromosome 4 Partial duplication of chromosome 4 @@ -100060,6 +100280,7 @@ + UMLS:C5816686 Partial trisomy/tetrasomy of chromosome 5 Partial duplication/triplication of chromosome 5 @@ -100110,7 +100331,7 @@ - Blethen-Wenick-Hawkins syndrome + OBSOLETE: Blethen-Wenick-Hawkins syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Hypopituitarism-short stature-skeletal anomalies syndrome true @@ -100123,6 +100344,7 @@ + UMLS:C4518495 Partial trisomy of chromosome 6 Partial duplication of chromosome 6 @@ -100134,6 +100356,7 @@ + UMLS:C4518496 Partial trisomy of chromosome 7 Partial duplication of chromosome 7 @@ -100147,6 +100370,7 @@ MESH:C537941 MeSH:C537941 + UMLS:C2931671 Partial trisomy of chromosome 8 Partial duplication of chromosome 8 @@ -100158,6 +100382,7 @@ + UMLS:C5816685 Partial trisomy/tetrasomy of chromosome 9 Partial duplication/triplication of chromosome 9 @@ -100169,6 +100394,7 @@ + UMLS:C4518498 Partial trisomy of chromosome 10 Partial duplication of chromosome 10 @@ -100182,6 +100408,7 @@ ICD-11:LD41.A ICD11:LD41.A + UMLS:C4518499 Partial trisomy of chromosome 11 Partial duplication of chromosome 11 @@ -100193,6 +100420,7 @@ + UMLS:C5679724 Partial duplication/triplication of chromosome 12p Partial trisomy/tetrasomy of chromosome 12p Partial trisomy/tetrasomy of the short arm of chromosome 12 @@ -100206,6 +100434,7 @@ + UMLS:C4518504 Partial trisomy of chromosome 16 Partial duplication of chromosome 16 @@ -100217,6 +100446,7 @@ + UMLS:C4518505 Partial trisomy of chromosome 17 Partial duplication of chromosome 17 @@ -100228,6 +100458,7 @@ + UMLS:C5816684 Partial trisomy/tetrasomy of chromosome 18 Partial duplication/triplication of chromosome 18 @@ -100239,6 +100470,7 @@ + UMLS:C4518507 Partial trisomy of chromosome 19 Partial duplication of chromosome 19 @@ -100250,6 +100482,7 @@ + UMLS:C4518509 Partial trisomy of chromosome 20 Partial duplication of chromosome 20 @@ -100308,6 +100541,7 @@ + UMLS:C5679722 Partial duplication/triplication of chromosome 5p Partial trisomy/tetrasomy of chromosome 5p Partial trisomy/tetrasomy of the short arm of chromosome 5 @@ -100355,6 +100589,7 @@ ICD-11:LD41.71 ICD11:LD41.71 + UMLS:C4708597 Partial duplication of chromosome 8p Partial trisomy of chromosome 8p Partial trisomy of the short arm of chromosome 8 @@ -100368,6 +100603,7 @@ + UMLS:C5679711 Partial duplication of chromosome 9p Partial duplication of the short arm of chromosome 9 Partial tetrasomy of chromosome 9p @@ -100416,6 +100652,7 @@ ICD-11:LD41.F1 ICD11:LD41.F1 + UMLS:C5566360 Partial duplication of chromosome 16p Partial trisomy of chromosome 16p Partial trisomy of the short arm of chromosome 16 @@ -100445,6 +100682,7 @@ + UMLS:C5679715 Partial duplication/triplication of chromosome 18p Partial trisomy/tetrasomy of chromosome 18p Partial trisomy/tetrasomy of the short arm of chromosome 18 @@ -100460,6 +100698,7 @@ ICD-11:LD41.00 ICD11:LD41.00 + UMLS:C4708598 Partial duplication of chromosome 1q Partial trisomy of chromosome 1q Partial trisomy of the long arm of chromosome 1 @@ -100522,6 +100761,7 @@ ICD-11:LD41.40 ICD11:LD41.40 + UMLS:C4518494 Partial duplication of chromosome 5q Partial trisomy of chromosome 5q Partial trisomy of the long arm of chromosome 5 @@ -100585,6 +100825,7 @@ ICD-11:LD41.81 ICD11:LD41.81 + UMLS:C5679702 Partial duplication of chromosome 9q Partial trisomy of chromosome 9q Partial trisomy of the long arm of chromosome 9 @@ -100662,6 +100903,7 @@ ICD-11:LD41.E ICD11:LD41.E + UMLS:C5566335 Partial duplication of chromosome 15q Partial trisomy of chromosome 15q Partial trisomy of the long arm of chromosome 15 @@ -100677,6 +100919,7 @@ ICD-11:LD41.F0 ICD11:LD41.F0 + UMLS:C5566361 Partial duplication of chromosome 16q Partial trisomy of chromosome 16q Partial trisomy of the long arm of chromosome 16 @@ -100706,8 +100949,9 @@ - ICD-11:LD41.H1 - ICD11:LD41.H1 + ICD-11:LD41.H0 + ICD11:LD41.H0 + UMLS:C5679697 Partial duplication of chromosome 18q Partial trisomy of chromosome 18q Partial trisomy of the long arm of chromosome 18 @@ -100739,6 +100983,7 @@ ICD-11:LD41.K0 ICD11:LD41.K0 + UMLS:C5679695 Partial duplication of chromosome 20q Partial trisomy of chromosome 20q Partial trisomy of the long arm of chromosome 20 @@ -100784,15 +101029,15 @@ - UPD(1) - upd(1) + OBSOLETE: UPD(1) + obsolete: upd(1) OBSOLETE: Uniparental disomy of chromosome 1 true - upd(1) + obsolete: upd(1) @@ -100802,15 +101047,15 @@ - UPD(6) - upd(6) + OBSOLETE: UPD(6) + obsolete: upd(6) OBSOLETE: Uniparental disomy of chromosome 6 true - upd(6) + obsolete: upd(6) @@ -100820,15 +101065,15 @@ - UPD(7) - upd(7) + OBSOLETE: UPD(7) + obsolete: upd(7) OBSOLETE: Uniparental disomy of chromosome 7 true - upd(7) + obsolete: upd(7) @@ -100838,15 +101083,15 @@ - UPD(11) - upd(11) + OBSOLETE: UPD(11) + obsolete: upd(11) OBSOLETE: Uniparental disomy of chromosome 11 true - upd(11) + obsolete: upd(11) @@ -100856,15 +101101,15 @@ - UPD(13) - upd(13) + OBSOLETE: UPD(13) + obsolete: upd(13) OBSOLETE: Uniparental disomy of chromosome 13 true - upd(13) + obsolete: upd(13) @@ -100874,15 +101119,15 @@ - UPD(14) - upd(14) + OBSOLETE: UPD(14) + obsolete: upd(14) OBSOLETE: Uniparental disomy of chromosome 14 true - upd(14) + obsolete: upd(14) @@ -100892,15 +101137,15 @@ - UPD(15) - upd(15) + OBSOLETE: UPD(15) + obsolete: upd(15) OBSOLETE: Uniparental disomy of chromosome 15 true - upd(15) + obsolete: upd(15) @@ -100910,15 +101155,15 @@ - UPD(20) - upd(20) + OBSOLETE: UPD(20) + obsolete: upd(20) OBSOLETE: Uniparental disomy of chromosome 20 true - upd(20) + obsolete: upd(20) @@ -100928,15 +101173,15 @@ - UPD(21) - upd(21) + OBSOLETE: UPD(21) + obsolete: upd(21) OBSOLETE: Uniparental disomy of chromosome 21 true - upd(21) + obsolete: upd(21) @@ -101120,6 +101365,7 @@ ICD-11:2C27.1 ICD10:C37 ICD11:2C27.1 + UMLS:C4305465 Well-differentiated thymic neuroendocrine carcinoma @@ -101149,6 +101395,7 @@ ICD-11:2C27.1 ICD10:C37 ICD11:2C27.1 + UMLS:C4305466 Poorly differentiated thymic neuroendocrine carcinoma @@ -101256,10 +101503,10 @@ - + A rare vascular tumor characterized by a malignant space-occupying lesion composed of cells variably recapitulating features of normal endothelium. It mostly develops as a cutaneous tumor and is much less frequently located in the deep soft tissue. Clinical presentation is an enlarging mass, sometimes with symptoms like coagulopathy, anemia, persistent hematoma, or bruisability. Some tumors are associated with pre-existing conditions, e. g. Klippel-Trenaunay syndrome, Maffucci syndrome, or following radiation, among others. Older age, retroperitoneal location, large size, and high mitotic activity are predictors for poor outcome. ICD-10:C49.9 ICD-11:2B56 @@ -101276,8 +101523,6 @@ - ICD-10:E26.8 - ICD10:E26.8 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant hypocalcemia Bartter syndrome with hypocalcemia true @@ -101395,7 +101640,7 @@ ICD-10:E16.1 ICD10:E16.1 OMIM:609968 - UMLS:C5679694 + UMLS:C4303474 Hyperinsulinemic hypoglycemia due to INSR deficiency Hyperinsulinemic hypoglycemia due to insulin receptor deficiency Hyperinsulinism due to INSR deficiency @@ -101491,7 +101736,10 @@ OMIM:184095 UMLS:C3159322 Pseudo-Morquio syndrome type 2 - Spondyloepiphyseal dysplasia, Maroteaux type + Pseudo-Morquio type II syndrome + SEMD, Maroteaux type + SEMD-M + Spondyloepimetaphyseal dysplasia, Maroteaux type @@ -101648,15 +101896,13 @@ + - - - - + @@ -101686,10 +101932,12 @@ + - + + - + @@ -101753,7 +102001,9 @@ A rare peeling skin syndrome characterized by superficial peeling of the skin predominantly affecting the dorsa of the hands and feet. ICD-10:Q80.8 + ICD-11:EC20.1 ICD10:Q80.8 + ICD11:EC20.1 MESH:C536316 MeSH:C536316 MedDRA:10078538 @@ -101818,6 +102068,7 @@ ICD10:Q80.8 ICD11:EC20.1 OMIM:616265 + OMIM:617115 OMIM:618084 UMLS:C5679692 Generalized peeling skin syndrome type A @@ -101863,8 +102114,8 @@ - Generalized deciduous skin type C - Generalized peeling skin syndrome type C + OBSOLETE: Generalized deciduous skin type C + OBSOLETE: Generalized peeling skin syndrome type C This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Generalized peeling skin syndrome OBSOLETE: Peeling skin syndrome type C true @@ -102017,6 +102268,7 @@ + UMLS:C4736187 X chromosome number anomaly @@ -102072,6 +102324,7 @@ + UMLS:C5679689 Partial deletion of chromosome Xp Partial deletion of the short arm of chromosome X Partial monosomy of chromosome Xp @@ -102088,6 +102341,7 @@ ICD-11:LD52 ICD11:LD52 + UMLS:C4736189 Y chromosome number anomaly @@ -102215,7 +102469,6 @@ MESH:C537931 MeSH:C537931 OMIM:228900 - OMIM:609441 UMLS:C1856738 Du Pan syndrome Fibular aplasia-complex brachydactyly syndrome @@ -102227,8 +102480,6 @@ - ICD-10:G71.0 - ICD10:G71.0 OMIM:159001 UMLS:C1834653 LGMD1B @@ -102403,7 +102654,7 @@ ICD11:5C51.3 OMIM:306000 OMIM:613027 - UMLS:C5575419 + UMLS:C3694529 GSD due to liver phosphorylase kinase deficiency GSD type 9A GSD type 9C @@ -102427,26 +102678,15 @@ - - - - - - - - - - - A very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs. - ICD-10:Q87.1 - ICD-11:LD24.3 - ICD10:Q87.1 - ICD11:LD24.3 + MESH:C537172 MeSH:C537172 OMIM:168400 UMLS:C1868616 - Parastremmatic dwarfism + Parastremmatic dwarfism + This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spondyloepimetaphyseal dysplasia, Maroteaux type + Parastremmatic dysplasia + true @@ -102493,9 +102733,9 @@ - + @@ -102651,8 +102891,8 @@ - Histiocytosis X specific to childhood - Langerhans cell granulomatosis specific to childhood + OBSOLETE: Histiocytosis X specific to childhood + OBSOLETE: Langerhans cell granulomatosis specific to childhood This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Langerhans cell histiocytosis OBSOLETE: Langerhans cell histiocytosis specific to childhood true @@ -102700,8 +102940,8 @@ - Histiocytosis X specific to adulthood - Langerhans cell granulomatosis specific to adulthood + OBSOLETE: Histiocytosis X specific to adulthood + OBSOLETE: Langerhans cell granulomatosis specific to adulthood This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Langerhans cell histiocytosis OBSOLETE: Langerhans cell histiocytosis specific to adulthood true @@ -102737,8 +102977,6 @@ - ICD-10:Q87.8 - ICD10:Q87.8 OMIM:243310 UMLS:C2930979 Richieri Costa-Guion Almeida syndrome @@ -102801,8 +103039,8 @@ - Histiocytosis X in childhood and adulthood - Langerhans cell granulomatosis in childhood and adulthood + OBSOLETE: Histiocytosis X in childhood and adulthood + OBSOLETE: Langerhans cell granulomatosis in childhood and adulthood This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Langerhans cell histiocytosis OBSOLETE: Langerhans cell histiocytosis in childhood and adulthood true @@ -102880,9 +103118,6 @@ - ICD-10:G71.0 - ICD10:G71.0 - OMIM:606072 UMLS:C1832567 LGMD1C Limb-girdle muscular dystrophy due to caveolin-3 deficiency @@ -102897,7 +103132,7 @@ - Mollica-Pavone-Antener syndrome + OBSOLETE: Mollica-Pavone-Antener syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Dwarfism-intellectual disability-eye abnormality syndrome true @@ -102908,20 +103143,13 @@ - - - - - Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance. - ICD-10:Q87.1 - ICD-11:LD2H.Y - ICD10:Q87.1 - ICD11:LD2H.Y - UMLS:C4302825 - Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome - Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome - Osteochondrodysplatic nanism-hearing loss-retinitis pigmentosa syndrome - Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome + + OBSOLETE: Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome + OBSOLETE: Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome + OBSOLETE: Osteochondrodysplatic nanism-hearing loss-retinitis pigmentosa syndrome + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability + OBSOLETE: Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome + true @@ -103196,7 +103424,6 @@ MESH:C535895 MeSH:C535895 OMIM:253600 - OMIM:618129 UMLS:C1869123 Autosomal recessive limb-girdle muscular dystrophy type 2A Calpain-3-related LGMD R1 @@ -103331,7 +103558,7 @@ - Maccario-Mena syndrome + OBSOLETE: Maccario-Mena syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary renal tubular acidosis OBSOLETE: Neuroaxonal dystrophy-renal tubular acidosis syndrome true @@ -103382,8 +103609,6 @@ Familial isolated café-au-lait spots Multiple isolated café-au-lait spots Multiple isolated café-au-lait syndrome - NF6 - Neurofibromatosis type 6 Familial isolated café-au-lait macules @@ -103408,7 +103633,9 @@ Pseudomyxoma peritonei is characterized by disseminated intra-peritoneal mucinous tumors and mucinous ascites in the abdomen and pelvis. ICD-10:C78.6 + ICD-11:2D91 ICD10:C78.6 + ICD11:2D91 MESH:D011553 MeSH:D011553 MedDRA:10037138 @@ -103583,9 +103810,9 @@ - + @@ -103815,8 +104042,6 @@ - ICD-10:H40.1 - ICD10:H40.1 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Pigment-dispersion syndrome true @@ -103988,6 +104213,7 @@ ICD10:Q05.8 ICD10:Q05.9 ICD11:LA02.1 + UMLS:C0917813 Open spina bifida Spina bifida aperta Open spinal dysraphism @@ -104081,8 +104307,6 @@ - ICD-10:C91.7 - ICD10:C91.7 UMLS:C2930809 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to T-cell large granular lymphocyte leukemia Neutropenia-hyperlymphocytosis with large granular lymphocytes syndrome @@ -104352,8 +104576,6 @@ - ICD-10:Q05.9 - ICD10:Q05.9 UMLS:C1836022 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Conus spinal cord lipoma Lipomyelomeningocele @@ -104490,8 +104712,6 @@ - ICD-10:D70 - ICD10:D70 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cyclic neutropenia Intermittent neutropenia true @@ -104838,7 +105058,6 @@ MESH:C536113 MeSH:C536113 - OMIM:225400 UMLS:C2936777 Cerebral gigantism, Nevo type This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency @@ -105120,6 +105339,7 @@ ICD10:Q03.8 ICD11:8D64.1 OMIM:236600 + UMLS:C4546092 Congenital obstructive hydrocephalus Congenital non-communicating hydrocephalus @@ -105340,7 +105560,7 @@ - Median nodule of the upper lip is a minor trait of the lip transmitted in an autosomal dominant fashion. + A rare familial facial anomaly characterized by a nodule beneath the vermilion border of the upper lip that tapered into the frenulum. The lesion is soft, easily compressible and asymptomatic. It can be wide (up to 8 mm) or flat and less prominent. Regression of the nodule by age has been reported. There have been no further descriptions in the literature since 1994. ICD-10:Q18.8 ICD10:Q18.8 OMIM:151630 @@ -105517,9 +105737,10 @@ UMLS:C0403555 Hydronephrosis-inverted smile syndrome Inverted smile-neurogenic bladder syndrome + Ochoa facial syndrome + Ochoa syndrome Partial facial palsy with urinary abnormalities - Urofacial syndrome - Ochoa syndrome + Urofacial syndrome @@ -105528,8 +105749,8 @@ - Behrens-Baumann-Vogel syndrome - Microphthalmia-optic nerve aplasia syndrome + OBSOLETE: Behrens-Baumann-Vogel syndrome + OBSOLETE: Microphthalmia-optic nerve aplasia syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated optic nerve aplasia OBSOLETE: Oculocerebral dysplasia true @@ -105578,7 +105799,7 @@ - Plum syndrome + OBSOLETE: Plum syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Oculocerebroosseous syndrome true @@ -105891,15 +106112,25 @@ + - + + A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement. + ICD-10:E85.1 ICD-11:5D00.20 + ICD10:E85.1 ICD11:5D00.20 + OMIM:105210 UMLS:C5679761 + ATTRv amyloidosis Familial TTR-related amyloidosis Familial transthyretin-related amyloidosis + Hereditary TTR amyloid polyneuropathy + Hereditary TTR amyloidosis + Hereditary transthyretin amyloid polyneuropathy + hATTR Hereditary ATTR amyloidosis @@ -106140,19 +106371,12 @@ - - - - - A rare multiple congenital anomalies/dysmorphic syndrome characterized by severe developmental delay and intellectual disability, generalized hypotonia, growth failure, hydronephrosis, cardiac anomalies, and dysmorphic craniofacial features (such as microcephaly, hypertrichosis, synophrys, long eyelashes, epicanthus, flat nasal bridge, short, upturned nose, long philtrum, low-set ears, open-mouth appearance, full lower lip, cleft palate, and webbed neck). Thin corpus callosum, tethered spinal cord, intestinal malrotation, anal stenosis, and uterus didelphys have also been reported. - ICD-10:Q87.8 - ICD-11:LD2Y - ICD10:Q87.8 - ICD11:LD2Y + MESH:C565736 MeSH:C565736 - OMIM:604916 + This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome Okamoto syndrome + true @@ -106466,6 +106690,7 @@ ICD-10:Q87.8 ICD10:Q87.8 OMIM:300000 + UMLS:C2936904 Hypertelorism-hypospadias syndrome Hypertelorism-oesophageal abnormality-hypospadias syndrome Hypospadias-dysphagia syndrome @@ -106625,25 +106850,7 @@ - - - - - - - - - - - - - - - Oral-facial-digital syndrome, type 3 is characterized by anomalies of the mouth, eyes and digits, associated with severe intellectual deficit. - ICD-10:Q87.0 - ICD-11:LD25.00 - ICD10:Q87.0 - ICD11:LD25.00 + MESH:C557817 MeSH:C557817 OMIM:258850 @@ -106651,7 +106858,9 @@ OFD3 Oral-facial-digital syndrome type 3 Sugarman syndrome + This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Orofaciodigital syndrome type 6 Orofaciodigital syndrome type 3 + true @@ -106757,6 +106966,12 @@ + + + + + + Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly. ICD-10:Q04.3 ICD-11:LD25.00 @@ -106789,7 +107004,6 @@ - Oral-facial-digital syndrome, type 8 is characterized by tongue lobulation, hypoplasia of the epiglottis, median cleft upper lip, broad or bifid nasal tip, hypertelorism or telecanthus, bilateral preaxial and postaxial polydactyly, abnormal tibiae and/or radii, duplication of the halluces, short stature, and mild intellectual deficit. ICD-10:Q87.0 ICD-11:LD25.00 @@ -106812,7 +107026,6 @@ - @@ -106828,10 +107041,11 @@ ICD11:4A01.22 OMIM:607271 UMLS:C1846545 - ALPS with recurrent viral infections + ALPS-recurrent viral infections due to CASP8 deficiency + Autoimmune lymphoproliferative syndrome-recurrent viral infections due to Caspase 8 deficiency CEDS Caspase 8 deficiency syndrome - Autoimmune lymphoproliferative syndrome with recurrent viral infections + Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency @@ -106839,9 +107053,10 @@ - + + Dianzani autoimmune lymphoproliferative disease (DALD) is a very rare disorder characterized by autoimmunity, lymphadenopathy and/or splenomegaly. ICD-10:D47.9 ICD10:D47.9 @@ -106882,6 +107097,7 @@ OMIM:303350 OMIM:304100 OMIM:307000 + UMLS:C5779710 CRASH syndrome Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome L1CAM syndrome @@ -106928,25 +107144,14 @@ - - - - - - A rare multiple congenital anomalies syndrome characterized by facial (telecanthus, flat nasal bridge, retrognathia), oral (cleft palate, vestibular frenula) and digital (oligodactyly, preaxial polydactyly) features, associated with remarkable radial shortening, fibular agenesis and coalescence of tarsal bones. No new cases have been described since 1993. - ICD-10:Q87.0 - ICD-11:LD25.00 - ICD10:Q87.0 - ICD11:LD25.00 - MESH:C563491 - MeSH:C563491 - OMIM:165590 - UMLS:C1833796 - Figuera syndrome - OFD10 - Oral-facial-digital syndrome type 10 - Orofaciodigital syndrome with fibular aplasia - Orofaciodigital syndrome type 10 + + OBSOLETE: Figuera syndrome + OBSOLETE: OFD10 + OBSOLETE: Oral-facial-digital syndrome type 10 + OBSOLETE: Orofaciodigital syndrome with fibular aplasia + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Orofaciodigital syndrome + OBSOLETE: Orofaciodigital syndrome type 10 + true @@ -107052,6 +107257,7 @@ OMIM:278000 UMLS:C5574740 LAL deficiency + LALD Lysosomal acid lipase deficiency @@ -107117,6 +107323,12 @@ + + + + + + @@ -108043,7 +108255,7 @@ - XPA + OBSOLETE: XPA This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Xeroderma pigmentosum OBSOLETE: Xeroderma pigmentosum complementation group A true @@ -108055,7 +108267,7 @@ - XPB + OBSOLETE: XPB This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Xeroderma pigmentosum OBSOLETE: Xeroderma pigmentosum complementation group B true @@ -108067,7 +108279,7 @@ - XPC + OBSOLETE: XPC This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Xeroderma pigmentosum OBSOLETE: Xeroderma pigmentosum complementation group C true @@ -108079,7 +108291,7 @@ - XPD + OBSOLETE: XPD This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Xeroderma pigmentosum OBSOLETE: Xeroderma pigmentosum complementation group D true @@ -108091,7 +108303,7 @@ - XPE + OBSOLETE: XPE This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Xeroderma pigmentosum OBSOLETE: Xeroderma pigmentosum complementation group E true @@ -108103,7 +108315,7 @@ - XPF + OBSOLETE: XPF This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Xeroderma pigmentosum OBSOLETE: Xeroderma pigmentosum complementation group F true @@ -108115,7 +108327,7 @@ - XPG + OBSOLETE: XPG This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Xeroderma pigmentosum OBSOLETE: Xeroderma pigmentosum complementation group G true @@ -108127,11 +108339,9 @@ - ICD-10:E88.0 - ICD10:E88.0 - Analbuminemia - Bisalbuminemia - FDH + NON RARE IN EUROPE: Analbuminemia + NON RARE IN EUROPE: Bisalbuminemia + NON RARE IN EUROPE: FDH This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Familial dysalbuminemic hyperthyroxinemia true @@ -108230,7 +108440,7 @@ Osteochondritis dissecans (OCD) is a rare bone disease characterized by an acquired idiopathic necrotic lesion of subchondral bone with the formation of a sequestrum, which may detach to form loose bodies in joints. OCD mainly affects the knee, ankle and elbow joints and can lead to pain, functional limitations and secondary osteoarthritis. ICD-10:M93.2 - ICD-11:FB82.1  + ICD-11:FB82.1 ICD10:M93.2 ICD11:FB82.1 MESH:D010008 @@ -108343,6 +108553,7 @@ ICD-11:8A83 ICD10:G44.8 ICD11:8A83 + MedDRA:10088606 UMLS:C0752150 Hypnic headache @@ -108939,6 +109150,7 @@ OMIM:166450 UMLS:C0432264 Axial osteosclerosis + Osteomesopycnosis Osteomesopyknosis @@ -108948,7 +109160,7 @@ - Juvenile CRMO + OBSOLETE: Juvenile CRMO This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis OBSOLETE: Juvenile chronic recurrent multifocal osteomyelitis true @@ -108971,7 +109183,6 @@ ICD11:LD2F.1Y MESH:C536054 MeSH:C536054 - OMIM:300373 UMLS:C2931096 Whyte-Murphy syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome @@ -109209,8 +109420,6 @@ - ICD-10:H35.3 - ICD10:H35.3 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Age-related macular degeneration true @@ -109334,14 +109543,6 @@ - ICD-10:H80.0 - ICD-10:H80.1 - ICD-10:H80.2 - ICD-10:H80.8 - ICD10:H80.0 - ICD10:H80.1 - ICD10:H80.2 - ICD10:H80.8 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Familial otosclerosis true @@ -109360,6 +109561,7 @@ ICD10:N39.8 MESH:C537271 MeSH:C537271 + MedDRA:10071718 UMLS:C2931462 Fowler syndrome Fowler-Christmas-Chapple syndrome @@ -109911,11 +110113,7 @@ - ICD-10:M88.0 - ICD-10:M88.8 - ICD10:M88.0 - ICD10:M88.8 - Osteitis deformans + NON RARE IN EUROPE: Osteitis deformans This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Paget disease of bone true @@ -110359,6 +110557,7 @@ ICD10:E75.2 ICD11:8A44.0 OMIM:312080 + UMLS:C5438815 Pelizaeus-Merzbacher disease in female carriers @@ -110381,6 +110580,7 @@ ICD10:E75.2 ICD11:8A44.0 OMIM:312080 + UMLS:C5439441 PLP1 null syndrome Pelizaeus-Merzbacher disease, null syndrome Null syndrome @@ -110481,6 +110681,7 @@ ICD10:E75.2 ICD11:LD90.2 OMIM:260600 + UMLS:C5396702 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation @@ -110497,6 +110698,7 @@ ICD-11:DC33 ICD10:K86.1 ICD11:DC33 + UMLS:C4302243 AIP type 1 IgG4-related pancreatitis Lymphoplasmacytic sclerosing pancreatitis @@ -110662,7 +110864,7 @@ - + A rare porphyria characterized by a pre-existing myeloid disorder, skin fragility and blistering on the exposed areas, and hemorrhagic bullae typically on the back of the hands. Urine, plasma and fecal porphyrins are increased. ICD-10:E80.2 ICD10:E80.2 @@ -110685,6 +110887,8 @@ Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position. + ICD-10:Q68.8 + ICD10:Q68.8 UMLS:C4749580 IDMDC Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome @@ -110885,8 +111089,8 @@ - Crescentic glomerulonephritis - RPGN + OBSOLETE: Crescentic glomerulonephritis + OBSOLETE: RPGN This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Glomerular disease OBSOLETE: Rapidly progressive glomerulonephritis true @@ -111164,10 +111368,6 @@ - ICD-10:E70.3 - ICD-11:EC23.20 - ICD10:E70.3 - ICD11:EC23.20 OMIM:614171 HPS9 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hermansky-Pudlak syndrome due to BLOC-1 deficiency @@ -111632,16 +111832,6 @@ - ICD-10:H20.0 - ICD-10:H20.1 - ICD-10:H20.2 - ICD-10:H20.8 - ICD-10:H20.9 - ICD10:H20.0 - ICD10:H20.1 - ICD10:H20.2 - ICD10:H20.8 - ICD10:H20.9 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Idiopathic anterior uveitis true @@ -111743,7 +111933,7 @@ ICD-10:G51.0 ICD10:G51.0 - Bell palsy + NON RARE IN EUROPE: Bell palsy This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Idiopathic facial palsy true @@ -111803,6 +111993,7 @@ ICD-11:EC20.02 ICD11:EC20.02 + UMLS:C1274215 ARCI Autosomal recessive congenital ichthyosis @@ -112317,7 +112508,7 @@ - Fitzsimmons-Guilbert syndrome + OBSOLETE: Fitzsimmons-Guilbert syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autosomal recessive spastic ataxia of Charlevoix-Saguenay OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome true @@ -112462,8 +112653,6 @@ - ICD-10:Q87.8 - ICD10:Q87.8 MESH:C536299 MeSH:C536299 OMIM:260555 @@ -112486,6 +112675,7 @@ ICD-11:1G07.0 ICD10:B88.0 ICD11:1G07.0 + MedDRA:10075310 UMLS:C0392666 Demodicosis Demodicidosis @@ -112625,13 +112815,7 @@ - - - - - - - PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies. + A rare early childhood onset progressive encephalopathy characterized by extreme cerebellar atrophy, infantile-onset hypotonia, infantile spasms with hypsarrhythmia, profound intellectual disability, and optic atrophy. PEHO stands for the main features of the syndrome: Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy. ICD-10:G31.8 ICD-11:LD90.Y ICD10:G31.8 @@ -112642,7 +112826,6 @@ OMIM:260565 UMLS:C1850055 Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy - Progressive encephalopathy-optic atrophy syndrome PEHO syndrome @@ -112652,8 +112835,6 @@ - ICD-10:E72.8 - ICD10:E72.8 OMIM:260650 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Xeroderma pigmentosum-Cockayne syndrome complex Pellagra-like skin rash-neurological manifestations syndrome @@ -112803,8 +112984,7 @@ OMIM:169600 UMLS:C0085106 Benign chronic familial pemphigus of Hailey-Hailey - Hailey-Hailey disease - Familial benign chronic pemphigus + Hailey-Hailey disease @@ -112813,8 +112993,6 @@ - ICD-10:M05.0 - ICD10:M05.0 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Rheumatoid arthritis true @@ -112916,6 +113094,7 @@ ICD10:Q87.8 ICD11:LD44.A1 OMIM:616708 + UMLS:C5190804 10p12p11 microdeletion syndrome Del(10)(p11.21p12.31) Deletion 10p11.21p12.31 @@ -112998,6 +113177,7 @@ TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting. ICD-10:D75.1 ICD10:D75.1 + MedDRA:10075076 UMLS:C3854394 Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome TEMPI syndrome @@ -113779,6 +113959,7 @@ ICD10:Q87.4 ICD11:LD28.01 OMIM:154700 + UMLS:C4721845 MFS1 Marfan syndrome type 1 @@ -114122,7 +114303,7 @@ - Short stature-hyperkaliemia-acidosis syndrome + OBSOLETE: Short stature-hyperkaliemia-acidosis syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare inborn errors of metabolism OBSOLETE: Preeyasombat-Varavithya syndrome true @@ -114134,7 +114315,7 @@ - D'Ercole syndrome + OBSOLETE: D'Ercole syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare syndromic intellectual disability OBSOLETE: Short stature-microcephaly-heart defect syndrome true @@ -114333,8 +114514,8 @@ ICD-10:N48.6 ICD10:N48.6 - Induratio penis plastica - Plastic induration of penis + NON RARE IN EUROPE: Induratio penis plastica + NON RARE IN EUROPE: Plastic induration of penis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Peyronie syndrome true @@ -114457,24 +114638,12 @@ - - - - - - - Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome is characterised by phocomelia (involving arms more severely), ectrodactyly, ear anomalies (bilateral anomalies of the pinnae), conductive deafness, dysmorphism (long and prominent philtrum, mild maxillary hypoplasia) and sinus arrhythmia. It has been described in four patients (a father and his son and a mother and her daughter) from two unrelated families. - ICD-10:Q87.2 - ICD-11:LD2H.Y - ICD10:Q87.2 - ICD11:LD2H.Y - MESH:C537498 - MeSH:C537498 - OMIM:171480 - UMLS:C1868390 - Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome - Stoll-Lévy-Francfort syndrome - Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome + + OBSOLETE: Phocomelia-ectrodactyly-hearing loss-sinus arrhythmia syndrome + OBSOLETE: Stoll-Lévy-Francfort syndrome + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndrome with limb reduction defects + OBSOLETE: Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome + true @@ -114630,7 +114799,7 @@ - Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in <i>ABCG5<i> (2p21) and <i>ABCG8</i> (2p21) genes. + Sitosterolemia is a rare autosomal recessive sterol storage disease characterized by the accumulation of phytosterols in the blood and tissues. Clinical manifestations include xanthomas, arthralgia and premature atherosclerosis. Hematological manifestations include hemolytic anemia with stomatocytosis and macrothrombocytopenia. The disease is caused by homozygous or compound heterozygous mutations in <i>ABCG5</i> (2p21) and <i>ABCG8</i> (2p21) genes. ICD-10:E78.0 ICD-11:5C52.1Y ICD10:E78.0 @@ -114690,6 +114859,8 @@ Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971. + ICD-10:E70.3 + ICD10:E70.3 MESH:C536955 MeSH:C536955 OMIM:172850 @@ -115297,9 +115468,7 @@ - ICD-10:M35.0 - ICD10:M35.0 - Secondary Sjögren-Gougerot syndrome + NON RARE IN EUROPE: Secondary Sjögren-Gougerot syndrome This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Secondary Sjögren syndrome true @@ -115352,6 +115521,7 @@ A rare skin disease belonging to the spectrum of autoinflammatory syndromes characterized by the triad of pyoderma gangrenosum (PG), suppurative hidradenitis (SH) and acne. ICD-10:D89.8 ICD10:D89.8 + MedDRA:10084535 UMLS:C5191642 Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome PASH syndrome @@ -115367,6 +115537,8 @@ Intellectual disability-alacrima-achalasia syndrome is a rare, genetic intellectual disability syndrome characterized by delayed motor and cognitive development, absence or severe delay in speech development, intellectual disability, and alacrima. Achalasia/dysphagia and mild autonomic dysfunction (i.e. anisocoria) have also been reported in some patients. The phenotype is similar to the one observed in autosomal recessive Triple A syndrome, but differs by the presence of intellectual disability in all affected individuals. + ICD-10:H04.8 + ICD10:H04.8 OMIM:300858 UMLS:C4706563 Intellectual disability-alacrima-achalasia syndrome @@ -115448,7 +115620,7 @@ - Combined malonic and methylmalonic acidemia is a rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline. + A rare inborn error of metabolism characterized by elevation of malonic acid (MA) and methylmalonic acid (MMA) in body fluids, with higher levels of MMA than MA. CMAMMA presents in childhood with metabolic acidosis, developmental delay, dystonia and failure to thrive or in adulthood with seizures, memory loss and cognitive decline. ICD-10:E71.1 ICD10:E71.1 MESH:C580002 @@ -115510,9 +115682,9 @@ - Fatal infantile HCM due to mitochondrial complex I deficiency - Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency - Fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency + OBSOLETE: Fatal infantile HCM due to mitochondrial complex I deficiency + OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to NADH-CoQ reductase deficiency + OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to NADH-coenzyme Q reductase deficiency This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated complex I deficiency OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency true @@ -115810,8 +115982,10 @@ ICD10:C83.3 ICD11:2A81.6 UMLS:C2700007 - EBV-positive DLBCL of the elderly - Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly + EBV-positive DLBCL + Epstein-Barr virus-positive diffuse large B-cell lymphoma not otherwise specified + Epstein-Barr virus-positive diffuse large B-cell lymphoma, NOS + Epstein-Barr virus-positive diffuse large B-cell lymphoma @@ -115864,6 +116038,7 @@ ICD10:D21.9 MESH:D000077777 MeSH:D000077777 + MedDRA:10083440 UMLS:C1302808 Myopericytoma @@ -115937,6 +116112,7 @@ ICD-11:5C50.3 ICD11:5C50.3 + UMLS:C0041254 Disorder of tryptophan metabolism @@ -115951,6 +116127,7 @@ ICD-11:5C50.4 ICD10:E72.3 ICD11:5C50.4 + UMLS:C0268552 Disorder of lysine and hydroxylysine metabolism @@ -117180,7 +117357,6 @@ A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. ICD-10:Q82.8 ICD10:Q82.8 - OMIM:607655 UMLS:C4755263 Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome Skin fragility-woolly hair-palmoplantar keratoderma syndrome @@ -117390,7 +117566,6 @@ A rare, soft tissue tumor characterized by high incidence of local recurrence, regional lymph node involvement and distant metastases. It commonly affects the soft tissue under the skin of a finger, hand, forearm, lower leg or foot, less often other areas of the body. ICD-10:C49.9 ICD-11:2B5F.2 - ICD-11:2B5F.2  ICD-11:XH4F96 ICD10:C49.9 ICD11:2B5F.2 @@ -117413,6 +117588,7 @@ ICD-11:BD52.5 ICD10:I77.4 ICD11:BD52.5 + MedDRA:10009838 UMLS:C1861783 Dunbar syndrome MALS @@ -117648,6 +117824,7 @@ + UMLS:C5229849 BMRS Blepharophimosis-intellectual disability syndrome @@ -117794,8 +117971,6 @@ - ICD-11:3A73 - ICD11:3A73 UMLS:C5680998 Constitutional dyserythropoietic anemia @@ -117806,8 +117981,6 @@ - ICD-10:G11.3 - ICD10:G11.3 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Ataxia-telangiectasia variant Fatal infantile encephalopathy-pulmonary hypertension syndrome true @@ -117861,8 +118034,6 @@ - ICD-10:G31.0 - ICD10:G31.0 RTLA rvFTD This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Frontotemporal dementia @@ -118398,6 +118569,7 @@ A rare syndromic endocrine disease characterized by childhood-onset hyperphagia and obesity, alveolar hypoventilation, dysautonomia, hypothalamic dysfunction and neurobehavioral disorders. Central hypothyroidism, endocrine anomalies, electrolyte imbalances and respiratory failure may also be associated. ICD-10:E66.8 ICD10:E66.8 + MedDRA:10081396 UMLS:C4751121 ROHHAD ROHHADNET @@ -118547,8 +118719,6 @@ - ICD-10:Q79.6 - ICD10:Q79.6 Multiple joint dislocations-short stature-hyperlaxity-craniofacial dysmorphism syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome Reunion Island Larsen-like syndrome @@ -118718,7 +118888,7 @@ MeSH:C536564 OMIM:190680 UMLS:C1860804 - Carnevale-Hernández-del Castillo syndrome + Carnevale-Hernández-del Castillo-Torres syndrome Triphalangeal thumbs-brachyectrodactyly syndrome @@ -118733,7 +118903,7 @@ ICD10:Q73.0 MedDRA:10001926 UMLS:C0002447 - Amelia + Non-syndromic amelia @@ -118744,8 +118914,8 @@ UMLS:C5679931 - Intercalary meromelia - Intercalary limb defects + Non-syndromic intercalary meromelia + Non-syndromic intercalary limb defects @@ -118754,7 +118924,7 @@ - Terminal meromelia + OBSOLETE: Terminal meromelia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Non-syndromic limb reduction defect OBSOLETE: Terminal limb defects true @@ -118766,7 +118936,7 @@ - Fingers absent + OBSOLETE: Fingers absent This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Non-syndromic limb reduction defect OBSOLETE: Adactyly of hand true @@ -118800,7 +118970,7 @@ - Preaxial polydactyly of hand + OBSOLETE: Preaxial polydactyly of hand This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Non-syndromic preaxial polydactyly OBSOLETE: Preaxial polydactyly of fingers true @@ -118812,7 +118982,7 @@ - Postaxial polydactyly of hand + OBSOLETE: Postaxial polydactyly of hand This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Non-syndromic postaxial polydactyly OBSOLETE: Postaxial polydactyly of fingers true @@ -118839,6 +119009,7 @@ + UMLS:C0265605 Congenital deformities of fingers @@ -118854,7 +119025,7 @@ ICD-11:LB90 ICD11:LB90 UMLS:C5680994 - Joint formation defects + Non-syndromic joint formation defects @@ -118864,6 +119035,7 @@ + UMLS:C5437774 Congenital joint dislocations @@ -118875,7 +119047,7 @@ UMLS:C5680996 - Non syndromic limb overgrowth + Non-syndromic limb overgrowth @@ -118975,7 +119147,8 @@ ICD10:Q71.0 ICD11:LB99.0 UMLS:C0265570 - Amelia of upper limb + Isolated congenital absence of upper limb + Isolated amelia of upper limb @@ -118992,7 +119165,8 @@ ICD10:Q72.0 ICD11:LB9A.0 UMLS:C0265621 - Amelia of lower limb + Isolated congenital absence of lower limb + Isolated amelia of lower limb @@ -119010,8 +119184,8 @@ ICD11:LB9B MESH:C536498 MeSH:C536498 - Total amelia - Tetra-amelia + Isolated total amelia + Isolated tetra-amelia @@ -119028,10 +119202,11 @@ ICD10:Q71.8 ICD11:LB99.1 UMLS:C0685375 - Congenital absence of humerus - Congenital hypoplasia of humerus - Humeral intercalary meromelia - Humeral agenesis/hypoplasia + Isolated congenital absence of humerus + Isolated congenital humeral deficiency + Isolated congenital hypoplasia of humerus + Isolated humeral intercalary meromelia + Isolated humeral agenesis/hypoplasia @@ -119048,8 +119223,8 @@ ICD10:Q71.1 ICD11:LB99.4 UMLS:C0265574 - Humero-radio-ulnar intercalary transverse meromelia - Congenital absence of upper arm and forearm with hand present + Isolated congenital humero-radio-ulnar intercalary transverse meromelia + Isolated absence of upper arm and forearm with hand present @@ -119066,8 +119241,8 @@ ICD10:Q72.1 ICD11:LB9A.3 UMLS:C0265626 - Femorotibiofibular intercalary transverse meromelia - Congenital absence of thigh and lower leg with foot present + Isolated congenital femoro-tibio-fibular intercalary transverse meromelia + Isolated absence of thigh and lower leg with foot present @@ -119084,8 +119259,8 @@ ICD10:Q71.2 ICD11:LB99.5 UMLS:C1306663 - Radio-ulnar terminal transverse meromelia - Congenital absence of both forearm and hand + Isolated congenital radio-ulnar terminal transverse meromelia + Isolated absence of both forearm and hand @@ -119102,8 +119277,8 @@ ICD10:Q72.2 ICD11:LB9A.7 UMLS:C3649652 - Tibiofibular terminal transverse meromelia - Congenital absence of both lower leg and foot + Isolated congenital tibiofibular terminal transverse meromelia + Isolated absence of both lower leg and foot @@ -119120,8 +119295,8 @@ ICD10:Q71.3 ICD11:LB99.6 UMLS:C0265594 - Congenital absence of hand - Acheiria + Isolated congenital absence of hand + Isolated acheiria @@ -119138,8 +119313,8 @@ ICD10:Q72.3 ICD11:LB9A.4 UMLS:C0265624 - Congenital absence of foot - Apodia + Isolated congenital absence of foot + Isolated apodia @@ -119156,10 +119331,10 @@ ICD10:Q71.3 ICD11:LB99.7 UMLS:C0431890 - Congenital absence/hypoplasia of thumb - Thumb hypodactyly - Thumb oligodactyly - Congenital hypoplasia of thumb + Isolated congenital absence/hypoplasia of thumb + Isolated congenital thumb hypodactyly + Isolated congenital thumb oligodactyly + Isolated hypoplasia of thumb @@ -119168,9 +119343,9 @@ - Digits 2-5 hypodactyly - Digits 2-5 oligodactyly - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Terminal transverse limb defect + OBSOLETE: Digits 2-5 hypodactyly + OBSOLETE: Digits 2-5 oligodactyly + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic terminal transverse limb defect OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb true @@ -119181,7 +119356,7 @@ - Ectrodactyly of hand + OBSOLETE: Ectrodactyly of hand This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated split hand-split foot malformation OBSOLETE: Split hand true @@ -119204,7 +119379,7 @@ - Short fingers + OBSOLETE: Short fingers This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Dysostosis with brachydactyly without extraskeletal manifestations OBSOLETE: Brachydactyly of fingers true @@ -119216,7 +119391,7 @@ - Short toes + OBSOLETE: Short toes This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Dysostosis with brachydactyly without extraskeletal manifestations OBSOLETE: Brachydactyly of toes true @@ -119250,11 +119425,8 @@ - ICD-10:Q74.8 - ICD10:Q74.8 MESH:C536563 MeSH:C536563 - OMIM:174500 TPT-PS syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome Triphalangeal thumb-polysyndactyly syndrome @@ -119266,6 +119438,7 @@ + @@ -119279,12 +119452,13 @@ MedDRA:10064100 OMIM:217100 UMLS:C0002636 + ABS Amniotic band sequence - Amniotic band syndrome + Congenital constriction ring syndrome Congenital ring constrictions Constriction band syndrome Streeter dysplasia - Constriction rings syndrome + Amniotic band syndrome @@ -119301,9 +119475,9 @@ ICD10:Q74.8 ICD11:LB77 UMLS:C4706507 - Supernumerary phalanges + Isolated congenital supernumerary phalanges Supernumerary phalanx - Hyperphalangy + Isolated hyperphalangy @@ -119332,10 +119506,10 @@ - Bifid great toes - Bifid halluces - Bifid hallux - Preaxial polydactyly of foot + OBSOLETE: Bifid great toes + OBSOLETE: Bifid halluces + OBSOLETE: Bifid hallux + OBSOLETE: Preaxial polydactyly of foot This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic preaxial polydactyly OBSOLETE: Preaxial polydactyly of toes true @@ -119347,7 +119521,7 @@ - Postaxial polydactyly of foot + OBSOLETE: Postaxial polydactyly of foot This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic postaxial polydactyly OBSOLETE: Postaxial polydactyly of toes true @@ -119359,9 +119533,9 @@ - Central polydactyly of foot - Mesoaxial polydactyly of toes - Mirror foot + OBSOLETE: Central polydactyly of foot + OBSOLETE: Mesoaxial polydactyly of toes + OBSOLETE: Mirror foot This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Central polydactyly OBSOLETE: Central polydactyly of toes true @@ -119521,8 +119695,8 @@ ICD10:Q74.2 ICD11:LB90.6 UMLS:C4545230 - Tibio-fibular fusion - Tibio-fibular synostosis + Isolated congenital tibiofibular fusion + Isolated tibio-fibular synostosis @@ -119740,8 +119914,8 @@ - Humeral intercalary meromelia, unilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Humeral agenesis/hypoplasia + OBSOLETE: Humeral intercalary meromelia, unilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated humeral agenesis/hypoplasia OBSOLETE: Humeral agenesis/hypoplasia, unilateral true @@ -119752,8 +119926,8 @@ - Humeral intercalary meromelia, bilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Humeral agenesis/hypoplasia + OBSOLETE: Humeral intercalary meromelia, bilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated humeral agenesis/hypoplasia OBSOLETE: Humeral agenesis/hypoplasia, bilateral true @@ -119764,8 +119938,8 @@ - Femoral intercalary meromelia, unilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Femoral agenesis/hypoplasia + OBSOLETE: Femoral intercalary meromelia, unilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated femoral agenesis/hypoplasia OBSOLETE: Femoral agenesis/hypoplasia, unilateral true @@ -119776,8 +119950,8 @@ - Femoral intercalary meromelia, bilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Femoral agenesis/hypoplasia + OBSOLETE: Femoral intercalary meromelia, bilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated femoral agenesis/hypoplasia OBSOLETE: Femoral agenesis/hypoplasia, bilateral true @@ -119788,8 +119962,8 @@ - Radial longitidinal meromelia, unilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Radial hemimelia + OBSOLETE: Radial longitidinal meromelia, unilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated radial hemimelia OBSOLETE: Radial hemimelia, unilateral true @@ -119800,8 +119974,8 @@ - Radial longitidinal meromelia, bilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Radial hemimelia + OBSOLETE: Radial longitidinal meromelia, bilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated radial hemimelia OBSOLETE: Radial hemimelia, bilateral true @@ -119812,8 +119986,8 @@ - Ulnar longitudinal meromelia, bilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Ulnar hemimelia + OBSOLETE: Ulnar longitudinal meromelia, bilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated ulnar hemimelia OBSOLETE: Ulnar hemimelia, bilateral true @@ -119824,8 +119998,8 @@ - Ulnar longitudinal meromelia, unilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Ulnar hemimelia + OBSOLETE: Ulnar longitudinal meromelia, unilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated ulnar hemimelia OBSOLETE: Ulnar hemimelia, unilateral true @@ -119836,8 +120010,8 @@ - Tibial longitudinal meromelia, unilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Tibial hemimelia + OBSOLETE: Tibial longitudinal meromelia, unilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated tibial hemimelia OBSOLETE: Tibial hemimelia, unilateral true @@ -119848,8 +120022,8 @@ - Tibial longitudinal meromelia, bilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Tibial hemimelia + OBSOLETE: Tibial longitudinal meromelia, bilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated tibial hemimelia OBSOLETE: Tibial hemimelia, bilateral true @@ -119860,8 +120034,8 @@ - Fibular longitudinal meromelia, unilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Fibular hemimelia + OBSOLETE: Fibular longitudinal meromelia, unilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated fibular hemimelia OBSOLETE: Fibular hemimelia, unilateral true @@ -119872,8 +120046,8 @@ - Fibular longitudinal meromelia, bilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Fibular hemimelia + OBSOLETE: Fibular longitudinal meromelia, bilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated fibular hemimelia OBSOLETE: Fibular hemimelia, bilateral true @@ -119884,8 +120058,8 @@ - Humero-radio-ulnar intercalary transverse meromelia, unilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital absence of upper arm and forearm with hand present + OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, unilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated absence of upper arm and forearm with hand present OBSOLETE: Congenital absence of upper arm and forearm with hand present, unilateral true @@ -119896,8 +120070,8 @@ - Humero-radio-ulnar intercalary transverse meromelia, bilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital absence of upper arm and forearm with hand present + OBSOLETE: Humero-radio-ulnar intercalary transverse meromelia, bilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated absence of upper arm and forearm with hand present OBSOLETE: Congenital absence of upper arm and forearm with hand present, bilateral true @@ -119908,8 +120082,8 @@ - Femorotibiofibular intercalary transverse meromelia, unilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital absence of thigh and lower leg with foot present + OBSOLETE: Femorotibiofibular intercalary transverse meromelia, unilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated absence of thigh and lower leg with foot present OBSOLETE: Congenital absence of thigh and lower leg with foot present, unilateral true @@ -119920,8 +120094,8 @@ - Femorotibiofibular intercalary transverse meromelia, bilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital absence of thigh and lower leg with foot present + OBSOLETE: Femorotibiofibular intercalary transverse meromelia, bilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated absence of thigh and lower leg with foot present OBSOLETE: Congenital absence of thigh and lower leg with foot present, bilateral true @@ -119932,8 +120106,8 @@ - Radio-ulnar terminal transverse meromelia, unilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital absence of both forearm and hand + OBSOLETE: Radio-ulnar terminal transverse meromelia, unilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated absence of both forearm and hand OBSOLETE: Congenital absence of both forearm and hand, unilateral true @@ -119944,8 +120118,8 @@ - Radio-ulnar terminal transverse meromelia, bilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital absence of both forearm and hand + OBSOLETE: Radio-ulnar terminal transverse meromelia, bilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated absence of both forearm and hand OBSOLETE: Congenital absence of both forearm and hand, bilateral true @@ -119956,8 +120130,8 @@ - Tibiofibular terminal transverse meromelia, unilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital absence of both lower leg and foot + OBSOLETE: Tibiofibular terminal transverse meromelia, unilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated absence of both lower leg and foot OBSOLETE: Congenital absence of both lower leg and foot, unilateral true @@ -119968,8 +120142,8 @@ - Tibiofibular terminal transverse meromelia, bilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital absence of both lower leg and foot + OBSOLETE: Tibiofibular terminal transverse meromelia, bilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated absence of both lower leg and foot OBSOLETE: Congenital absence of both lower leg and foot, bilateral true @@ -119998,8 +120172,8 @@ - Congenital absence of hand, unilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Acheiria + OBSOLETE: Congenital absence of hand, unilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated acheiria OBSOLETE: Acheiria, unilateral true @@ -120010,8 +120184,8 @@ - Congenital absence of hand, bilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Acheiria + OBSOLETE: Congenital absence of hand, bilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated acheiria OBSOLETE: Acheiria, bilateral true @@ -120022,8 +120196,8 @@ - Congenital absence of foot, unilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Apodia + OBSOLETE: Congenital absence of foot, unilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated apodia OBSOLETE: Apodia, unilateral true @@ -120034,8 +120208,8 @@ - Congenital absence of foot, bilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Apodia + OBSOLETE: Congenital absence of foot, bilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated apodia OBSOLETE: Apodia, bilateral true @@ -120046,9 +120220,9 @@ - Thumb hypodactyly, unilateral - Thumb oligodactyly, unilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital hypoplasia of thumb + OBSOLETE: Thumb hypodactyly, unilateral + OBSOLETE: Thumb oligodactyly, unilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated hypoplasia of thumb OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral true @@ -120059,9 +120233,9 @@ - Thumb hypodactyly, bilateral - Thumb oligodactyly, bilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital hypoplasia of thumb + OBSOLETE: Thumb hypodactyly, bilateral + OBSOLETE: Thumb oligodactyly, bilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated hypoplasia of thumb OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral true @@ -120072,10 +120246,10 @@ - Adactyly of hand, bilateral - Digits 2-5 hypodactyly, bilateral - Digits 2-5 oligodactyly, bilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Terminal transverse limb defect + OBSOLETE: Adactyly of hand, bilateral + OBSOLETE: Digits 2-5 hypodactyly, bilateral + OBSOLETE: Digits 2-5 oligodactyly, bilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic terminal transverse limb defect OBSOLETE: Congenital absence/hypoplasia of fingers excluding thumb, bilateral true @@ -120086,8 +120260,8 @@ - Congenital absence of toes, unilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Terminal transverse limb defect + OBSOLETE: Congenital absence of toes, unilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic terminal transverse limb defect OBSOLETE: Adactyly of foot, unilateral true @@ -120098,8 +120272,8 @@ - Congenital absence of toes, bilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Terminal transverse limb defect + OBSOLETE: Congenital absence of toes, bilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic terminal transverse limb defect OBSOLETE: Adactyly of foot, bilateral true @@ -120110,7 +120284,7 @@ - Ectrodactyly of hand, unilateral + OBSOLETE: Ectrodactyly of hand, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated split hand-split foot malformation OBSOLETE: Split hand, unilateral true @@ -120122,7 +120296,7 @@ - Ectrodactyly of hand, bilateral + OBSOLETE: Ectrodactyly of hand, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated split hand-split foot malformation OBSOLETE: Split hand, bilateral true @@ -120156,7 +120330,7 @@ - Short fingers, unilateral + OBSOLETE: Short fingers, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Dysostosis with brachydactyly without extraskeletal manifestations OBSOLETE: Brachydactyly of fingers, unilateral true @@ -120168,7 +120342,7 @@ - Short fingers, bilateral + OBSOLETE: Short fingers, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Dysostosis with brachydactyly without extraskeletal manifestations OBSOLETE: Brachydactyly of fingers, bilateral true @@ -120180,7 +120354,7 @@ - Short toes, unilateral + OBSOLETE: Short toes, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Dysostosis with brachydactyly without extraskeletal manifestations OBSOLETE: Brachydactyly of toes, unilateral true @@ -120192,7 +120366,7 @@ - Short toes, bilateral + OBSOLETE: Short toes, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Dysostosis with brachydactyly without extraskeletal manifestations OBSOLETE: Brachydactyly of toes, bilateral true @@ -120226,10 +120400,10 @@ - Hyperphalangy in digits 2-5 - Supernumerary phalanges, unilateral - Supernumerary phalanx, unilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Hyperphalangy + OBSOLETE: Hyperphalangy in digits 2-5 + OBSOLETE: Supernumerary phalanges, unilateral + OBSOLETE: Supernumerary phalanx, unilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated hyperphalangy OBSOLETE: Hyperphalangy, unilateral true @@ -120240,9 +120414,9 @@ - Supernumerary phalanges, bilateral - Supernumerary phalanx, bilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Hyperphalangy + OBSOLETE: Supernumerary phalanges, bilateral + OBSOLETE: Supernumerary phalanx, bilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated hyperphalangy OBSOLETE: Hyperphalangy, bilateral true @@ -120253,7 +120427,7 @@ - Preaxial polydactyly type 1, unilateral + OBSOLETE: Preaxial polydactyly type 1, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Polydactyly of a biphalangeal thumb and/or hallux OBSOLETE: Polydactyly of a biphalangeal thumb, unilateral true @@ -120265,7 +120439,7 @@ - Preaxial polydactyly type 1, bilateral + OBSOLETE: Preaxial polydactyly type 1, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Polydactyly of a biphalangeal thumb and/or hallux OBSOLETE: Polydactyly of a biphalangeal thumb, bilateral true @@ -120277,8 +120451,8 @@ - Preaxial polydactyly type 2, unilateral - Unilateral PPD2 + OBSOLETE: Preaxial polydactyly type 2, unilateral + OBSOLETE: Unilateral PPD2 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Polydactyly of a triphalangeal thumb OBSOLETE: Polydactyly of a triphalangeal thumb, unilateral true @@ -120290,8 +120464,8 @@ - Bilateral PPD2 - Preaxial polydactyly type 2, bilateral + OBSOLETE: Bilateral PPD2 + OBSOLETE: Preaxial polydactyly type 2, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Polydactyly of a triphalangeal thumb OBSOLETE: Polydactyly of a triphalangeal thumb, bilateral true @@ -120303,7 +120477,7 @@ - Preaxial polydactyly type 3, unilateral + OBSOLETE: Preaxial polydactyly type 3, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Polydactyly of an index finger OBSOLETE: Polydactyly of an index finger, unilateral true @@ -120315,7 +120489,7 @@ - Preaxial polydactyly type 3, bilateral + OBSOLETE: Preaxial polydactyly type 3, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Polydactyly of an index finger OBSOLETE: Polydactyly of an index finger, bilateral true @@ -120327,7 +120501,7 @@ - Preaxial polydactyly type 4, unilateral + OBSOLETE: Preaxial polydactyly type 4, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Polysyndactyly OBSOLETE: Polysyndactyly, unilateral true @@ -120339,7 +120513,7 @@ - Preaxial polydactyly type 4, bilateral + OBSOLETE: Preaxial polydactyly type 4, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Polysyndactyly OBSOLETE: Polysyndactyly, bilateral true @@ -120395,8 +120569,8 @@ - Mesoaxial polydactyly of fingers, unilateral - Mirror hand, unilateral + OBSOLETE: Mesoaxial polydactyly of fingers, unilateral + OBSOLETE: Mirror hand, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Central polydactyly OBSOLETE: Central polydactyly of fingers, unilateral true @@ -120408,8 +120582,8 @@ - Mesoaxial polydactyly of fingers, bilateral - Mirror hand, bilateral + OBSOLETE: Mesoaxial polydactyly of fingers, bilateral + OBSOLETE: Mirror hand, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Central polydactyly OBSOLETE: Central polydactyly of fingers, bilateral true @@ -120421,9 +120595,9 @@ - Bifid great toes, unilateral - Bifid halluces, unilateral - Bifid hallux, unilateral + OBSOLETE: Bifid great toes, unilateral + OBSOLETE: Bifid halluces, unilateral + OBSOLETE: Bifid hallux, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic preaxial polydactyly OBSOLETE: Preaxial polydactyly of toes, unilateral true @@ -120435,9 +120609,9 @@ - Bifid great toes, bilateral - Bifid halluces, bilateral - Bifid hallux, bilateral + OBSOLETE: Bifid great toes, bilateral + OBSOLETE: Bifid halluces, bilateral + OBSOLETE: Bifid hallux, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic preaxial polydactyly OBSOLETE: Preaxial polydactyly of toes, bilateral true @@ -120471,8 +120645,8 @@ - Mesoaxial polydactyly of toes, unilateral - Mirror foot, unilateral + OBSOLETE: Mesoaxial polydactyly of toes, unilateral + OBSOLETE: Mirror foot, unilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Central polydactyly OBSOLETE: Central polydactyly of toes, unilateral true @@ -120484,8 +120658,8 @@ - Mesoaxial polydactyly of toes, bilateral - Mirror foot, bilateral + OBSOLETE: Mesoaxial polydactyly of toes, bilateral + OBSOLETE: Mirror foot, bilateral This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Central polydactyly OBSOLETE: Central polydactyly of toes, bilateral true @@ -120734,6 +120908,7 @@ ICD10:Q66.8 ICD11:LB98.4 OMIM:192950 + UMLS:C1860446 Congenital vertical talus, bilateral @@ -120743,8 +120918,8 @@ - Humero-radio-ulnar fusion, unilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Humero-radio-ulnar synostosis + OBSOLETE: Humero-radio-ulnar fusion, unilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated humero-radio-ulnar synostosis OBSOLETE: Humero-radio-ulnar synostosis, unilateral true @@ -120755,8 +120930,8 @@ - Humero-radio-ulnar fusion, bilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Humero-radio-ulnar synostosis + OBSOLETE: Humero-radio-ulnar fusion, bilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated humero-radio-ulnar synostosis OBSOLETE: Humero-radio-ulnar synostosis, bilateral true @@ -120767,8 +120942,8 @@ - Humero-radial fusion, unilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Humero-radial synostosis + OBSOLETE: Humero-radial fusion, unilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated humero-radial synostosis OBSOLETE: Humero-radial synostosis, unilateral true @@ -120779,8 +120954,8 @@ - Humero-radial fusion, bilateral - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Humero-radial synostosis + OBSOLETE: Humero-radial fusion, bilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated humero-radial synostosis OBSOLETE: Humero-radial synostosis, bilateral true @@ -120790,15 +120965,11 @@ - - - ICD-10:Q74.0 - ICD-11:LB90.2 - ICD10:Q74.0 - ICD11:LB90.2 - UMLS:C5679986 - Humero-ulnar fusion, unilateral - Humero-ulnar synostosis, unilateral + + OBSOLETE: Humero-ulnar fusion, unilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated humero-ulnar synostosis + OBSOLETE: Humero-ulnar synostosis, unilateral + true @@ -120806,14 +120977,11 @@ - - - ICD-10:Q74.0 - ICD-11:LB90.2 - ICD10:Q74.0 - ICD11:LB90.2 - Humero-ulnar fusion, bilateral - Humero-ulnar synostosis, bilateral + + OBSOLETE: Humero-ulnar fusion, bilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated humero-ulnar synostosis + OBSOLETE: Humero-ulnar synostosis, bilateral + true @@ -120821,15 +120989,11 @@ - - - ICD-10:Q74.0 - ICD-11:LB90.3 - ICD10:Q74.0 - ICD11:LB90.3 - UMLS:C5679984 - Radio-ulnar fusion, unilateral - Radio-ulnar synostosis, unilateral + + OBSOLETE: Radio-ulnar fusion, unilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated radio-ulnar synostosis + OBSOLETE: Radio-ulnar synostosis, unilateral + true @@ -120837,15 +121001,11 @@ - - - ICD-10:Q74.0 - ICD-11:LB90.3 - ICD10:Q74.0 - ICD11:LB90.3 - UMLS:C5679985 - Radio-ulnar fusion, bilateral - Radio-ulnar synostosis, bilateral + + OBSOLETE: Radio-ulnar fusion, bilateral + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated radio-ulnar synostosis + OBSOLETE: Radio-ulnar synostosis, bilateral + true @@ -120896,6 +121056,7 @@ ICD-11:LB92 ICD10:Q68.8 ICD11:LB92 + UMLS:C5437776 Congenital elbow dislocation, bilateral @@ -120987,6 +121148,7 @@ ICD-11:LB97.0 ICD10:Q74.0 ICD11:LB97.0 + UMLS:C5437813 Macrodactyly of hand, bilateral Macrodactyly of fingers, bilateral @@ -121025,6 +121187,7 @@ ICD-11:LB97.1 ICD10:Q74.2 ICD11:LB97.1 + UMLS:C5437810 Macrodactyly of foot, bilateral Macrodactyly of toes, bilateral @@ -121203,7 +121366,9 @@ MedDRA:10014642 OMIM:166000 UMLS:C0014084 - Dyschondroplasia + Enchondromatosis Spranger type I + Multiple Enchondromatosis type I + Multiple Enchondromatosis, Ollier type Ollier disease @@ -121283,7 +121448,7 @@ ICD10:K07.1 ICD11:DA0E.1 OMIM:176700 - UMLS:C5680744 + UMLS:C4755315 Autosomal dominant prognathism @@ -121370,10 +121535,10 @@ - + Leukocyte adhesion deficiency (LAD) is a primary immunodeficiency characterized by defects in the leukocyte adhesion process, marked leukocytosis and recurrent infections. ICD-10:D84.8 @@ -121410,7 +121575,7 @@ - Proteus-like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome (see this term) but who share a multitude of characteristic clinical features of the disease. + A rare genetic disease characterized by patients presenting with a multitude of clinical features of Proteus syndrome without meeting the diagnostic criteria for the disease. ICD-10:Q87.3 ICD-11:LD2C ICD10:Q87.3 @@ -121597,7 +121762,7 @@ - Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth. + A rare and heterogeneous gastroenterological clinical syndrome characterized by recurrent symptoms of intestinal obstruction with radiological features of dilated small or large intestine in absence of any mechanical occlusive lesion. Permanent alterations in neural, muscular, or mesenchymal structures of the intestinal wall or its extrinsic neural control, chronically impair tonic and propulsive motor functions in one or more segments of the gut. ICD-10:K59.8 ICD-11:DA90.2 ICD10:K59.8 @@ -121711,7 +121876,6 @@ MESH:D058489 MeSH:D058489 - UMLS:C2936403 46,XX DSD 46,XX disorder of sex development 46,XX difference of sex development @@ -122545,7 +122709,9 @@ A rare bone disease characterized by secondary hyperparathyroidism in patients with chronic renal failure, caused by improper treatment in the early stages of the disease with retention of phosphorus, vitamin D deficiency, and disturbed calcium-phosphorus metabolism, which result in increased parathyroid hormone levels. Patients present with short stature, severe changes of the skull and jaws as well as other skeletal deformities, dental anomalies, ''brown tumors'' in the mouth, hearing loss, and neuropsychiatric disorders. ICD-10:M89.8 + ICD-11:GB90.4Y ICD10:M89.8 + ICD11:GB90.4Y UMLS:C5681093 Sagliker syndrome @@ -122591,9 +122757,9 @@ - A rare bone dysplasia characterized by genu valgum, metaphyseal anomalies with broadening of the long bones extending into the diaphyses and giving the femora and tibiae an Erlenmeyer flask'' appearance, widening of the ribs and clavicles, platyspondyly and cortical thinning. + A rare bone dysplasia characterized by long bones with wide and expanded metaphyses, thin cortical bone and bone fragility. The metaphyseal widening and undermodeling extends well into the diaphysis and causes in the distal femur the typical ''Erlenmeyer flask'' or ''paddle'' appearance. Bone undermodeling is also seen in the tubular bones of the hands where there is lack of diaphyseal constriction. Common clinical features include genua valga, big clavicles and dental anomalies. Mild hyperostosis of the skull and mild platyspondyly can also be observed on radiographs. ICD-10:Q78.5 - ICD-11:LD24.1Y  + ICD-11:LD24.1Y ICD10:Q78.5 ICD11:LD24.1Y MESH:C536252 @@ -122601,6 +122767,7 @@ OMIM:265900 UMLS:C0265294 Metaphyseal dysplasia, Pyle type + SFRP4-related Pyle disease Pyle disease @@ -122679,6 +122846,7 @@ ICD10:I15.1 ICD11:BA04.Y OMIM:614495 + UMLS:C3469605 PHA2D Pseudohypoaldosteronism type 2D @@ -122701,6 +122869,7 @@ ICD10:I15.1 ICD11:BA04.Y OMIM:614496 + UMLS:C3469606 PHA2E Pseudohypoaldosteronism type 2E @@ -123464,7 +123633,7 @@ - + @@ -123508,7 +123677,7 @@ UMLS:C0014522 Lewandowsky-Lutz syndrome Lutz-Lewandowsky epidermodysplasia verruciformis - Epidermodysplasia verruciformis + Inherited epidermodysplasia verruciformis @@ -123926,7 +124095,7 @@ - Morillo Cucci-Passarge syndrome + OBSOLETE: Morillo Cucci-Passarge syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare syndromic intellectual disability OBSOLETE: Intellectual disability-unusual facies syndrome true @@ -123960,7 +124129,7 @@ - Davis-Lafer syndrome + OBSOLETE: Davis-Lafer syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare syndromic intellectual disability OBSOLETE: Intellectual disability-unusual facies, Davis-Lafer type true @@ -124023,7 +124192,7 @@ - Medrano-Roldan syndrome + OBSOLETE: Medrano-Roldan syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare syndromic intellectual disability OBSOLETE: Intellectual disability-hypotonia-skin hyperpigmentation syndrome true @@ -124146,8 +124315,6 @@ - ICD-10:Q87.8 - ICD10:Q87.8 MRX35 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to X-linked intellectual disability-short stature-overweight syndrome X-linked intellectual disability, Gu type @@ -124296,10 +124463,10 @@ - CSID with starch intolerance - Congenital sucrase-isomaltose malabsorption with starch intolerance - Congenital sucrose intolerance with starch intolerance - Disaccharide intolerance with starch intolerance + OBSOLETE: CSID with starch intolerance + OBSOLETE: Congenital sucrase-isomaltose malabsorption with starch intolerance + OBSOLETE: Congenital sucrose intolerance with starch intolerance + OBSOLETE: Disaccharide intolerance with starch intolerance This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital sucrase-isomaltase deficiency OBSOLETE: Congenital sucrase-isomaltase deficiency with starch intolerance true @@ -124311,10 +124478,10 @@ - CSID with minimal starch tolerance - Congenital sucrase-isomaltose malabsorption with minimal starch tolerance - Congenital sucrose intolerance with minimal starch tolerance - Disaccharide intolerance with minimal starch tolerance + OBSOLETE: CSID with minimal starch tolerance + OBSOLETE: Congenital sucrase-isomaltose malabsorption with minimal starch tolerance + OBSOLETE: Congenital sucrose intolerance with minimal starch tolerance + OBSOLETE: Disaccharide intolerance with minimal starch tolerance This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital sucrase-isomaltase deficiency OBSOLETE: Congenital sucrase-isomaltase deficiency with minimal starch tolerance true @@ -124326,10 +124493,10 @@ - CSID without starch intolerance - Congenital sucrase-isomaltose malabsorption without starch intolerance - Congenital sucrose intolerance without starch intolerance - Disaccharide intolerance without starch intolerance + OBSOLETE: CSID without starch intolerance + OBSOLETE: Congenital sucrase-isomaltose malabsorption without starch intolerance + OBSOLETE: Congenital sucrose intolerance without starch intolerance + OBSOLETE: Disaccharide intolerance without starch intolerance This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital sucrase-isomaltase deficiency OBSOLETE: Congenital sucrase-isomaltase deficiency without starch intolerance true @@ -124341,10 +124508,10 @@ - CSID with starch and lactose intolerance - Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance - Congenital sucrose intolerance with starch and lactose intolerance - Disaccharide intolerance with starch and lactose intolerance + OBSOLETE: CSID with starch and lactose intolerance + OBSOLETE: Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance + OBSOLETE: Congenital sucrose intolerance with starch and lactose intolerance + OBSOLETE: Disaccharide intolerance with starch and lactose intolerance This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital sucrase-isomaltase deficiency OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance true @@ -124356,9 +124523,9 @@ - CSID without sucrose intolerance - Congenital sucrose-isomaltose malabsorption without sucrose intolerance - Disaccharide intolerance without sucrose intolerance + OBSOLETE: CSID without sucrose intolerance + OBSOLETE: Congenital sucrose-isomaltose malabsorption without sucrose intolerance + OBSOLETE: Disaccharide intolerance without sucrose intolerance This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital sucrase-isomaltase deficiency OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance true @@ -124472,6 +124639,7 @@ ICD10:E83.4 UMLS:C5679977 FHHNC + Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis Michellis-Castrillo syndrome Primary hypomagnesemia with hypercalciuria and nephrocalcinosis @@ -124612,6 +124780,7 @@ + @@ -124684,7 +124853,7 @@ - Autosomal dominant childhood-onset progressive cortical cataract + OBSOLETE: Autosomal dominant childhood-onset progressive cortical cataract This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Early-onset partial cataract OBSOLETE: Autosomal dominant childhood-onset cortical cataract true @@ -124731,9 +124900,9 @@ - ADOS - Autosomal dominant Opitz BBB/G syndrome - Autosomal dominant Opitz syndrome + OBSOLETE: ADOS + OBSOLETE: Autosomal dominant Opitz BBB/G syndrome + OBSOLETE: Autosomal dominant Opitz syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Opitz GBBB syndrome OBSOLETE: Autosomal dominant Opitz G/BBB syndrome true @@ -124745,9 +124914,9 @@ - X-linked Opitz BBB/G syndrome - X-linked Opitz syndrome - XLOS + OBSOLETE: X-linked Opitz BBB/G syndrome + OBSOLETE: X-linked Opitz syndrome + OBSOLETE: XLOS This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Opitz GBBB syndrome OBSOLETE: X-linked Opitz G/BBB syndrome true @@ -125526,7 +125695,7 @@ ICD10:F71.1 ICD11:LD90 OMIM:300055 - UMLS:C3713418 + UMLS:C0796222 Lindsay-Burn syndrome PPM-X X-linked intellectual disability-psychosis-macroorchidism syndrome @@ -125732,7 +125901,7 @@ - + @@ -125961,8 +126130,6 @@ - ICD-10:Q87.8 - ICD10:Q87.8 OMIM:268050 UMLS:C0796072 Pigmentary retinopathy-intellectual disability syndrome @@ -126214,9 +126381,12 @@ A rare syndromic retinitis pigmentosa characterized by pigmentary retinopathy, diabetes mellitus with hyperinsulinism, acanthosis nigricans, secondary cataracts, neurogenic deafness, short stature mild hypogonadism in males and polycystic ovaries with oligomenorrhea in females. Inheritance is thought to be autosomal recessive. It can be distinguished from Alstrom syndrome (see this term) by the presence of intellectual disability and the absence of renal insufficiency. There have been no further descriptions in the literature since 1993. ICD-10:Q87.8 + ICD-11:LD2H.Y ICD10:Q87.8 + ICD11:LD2H.Y OMIM:268020 UMLS:C5679580 + Edwards-Sethi syndrome Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome @@ -126274,13 +126444,13 @@ - Alpha-1,4-glucosidase acid deficiency, juvenile onset - GSD due to acid maltase deficiency, juvenile onset - GSD type 2, juvenile onset - Glycogen storage disease type 2, juvenile onset - Glycogenosis due to acid maltase deficiency, juvenile onset - Glycogenosis type 2, juvenile onset - Pompe disease, juvenile onset + OBSOLETE: Alpha-1,4-glucosidase acid deficiency, juvenile onset + OBSOLETE: GSD due to acid maltase deficiency, juvenile onset + OBSOLETE: GSD type 2, juvenile onset + OBSOLETE: Glycogen storage disease type 2, juvenile onset + OBSOLETE: Glycogenosis due to acid maltase deficiency, juvenile onset + OBSOLETE: Glycogenosis type 2, juvenile onset + OBSOLETE: Pompe disease, juvenile onset This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Glycogen storage disease due to acid maltase deficiency, late-onset OBSOLETE: Glycogen storage disease due to acid maltase deficiency, juvenile onset true @@ -126320,13 +126490,13 @@ - Alpha-1,4-glucosidase acid deficiency, adult onset - GSD due to acid maltase deficiency, adult onset - GSD type 2, adulte onset - Glycogen storage disease type 2, adult onset - Glycogenosis due to acid maltase deficiency, adult onset - Glycogenosis type 2, adult onset - Pompe disease, adult onset + OBSOLETE: Alpha-1,4-glucosidase acid deficiency, adult onset + OBSOLETE: GSD due to acid maltase deficiency, adult onset + OBSOLETE: GSD type 2, adulte onset + OBSOLETE: Glycogen storage disease type 2, adult onset + OBSOLETE: Glycogenosis due to acid maltase deficiency, adult onset + OBSOLETE: Glycogenosis type 2, adult onset + OBSOLETE: Pompe disease, adult onset This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Glycogen storage disease due to acid maltase deficiency, late-onset OBSOLETE: Glycogen storage disease due to acid maltase deficiency, adult onset true @@ -126907,7 +127077,7 @@ - Mitochondrial disorder due to a transcription or a translation defect of mtDNA + OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mtDNA This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Mitochondrial disorder due to a defect in mitochondrial protein synthesis OBSOLETE: Mitochondrial disorder due to a transcription or a translation defect of mitochondrial DNA true @@ -126991,8 +127161,9 @@ ICD11:5C56.00 OMIM:268800 UMLS:C0751490 - Hexosaminidases A and B deficiency, infantile form - Infantile GM2 gangliosidosis 0 variant + Beta-hexosaminidase subunit beta deficiency, infantile form + GM2 gangliosidosis, Sandhoff variant, infantile form + GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form Sandhoff disease, infantile form @@ -127015,8 +127186,9 @@ ICD11:5C56.00 OMIM:268800 UMLS:C0751491 - Hexosaminidases A and B deficiency, juvenile form - Juvenile GM2 gangliosidosis 0 variant + Beta-hexosaminidase subunit beta deficiency, juvenile form + GM2 gangliosidosis, Sandhoff variant, juvenile form + GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form Sandhoff disease, juvenile form @@ -127039,8 +127211,9 @@ ICD11:5C56.00 OMIM:268800 UMLS:C0751489 - Adult GM2 gangliosidosis 0 variant - Hexosaminidases A and B deficiency, adult form + Beta-hexosaminidase subunit beta deficiency, adult form + GM2 gangliosidosis, Sandhoff variant, adult form + GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form Sandhoff disease, adult form @@ -127064,11 +127237,10 @@ OMIM:272800 UMLS:C5679976 Acute infantile Tay-Sachs disease - Beta-hexosaminidase subunitalpha deficiency, infantile form + Beta-hexosaminidase subunit alpha deficiency, infantile form GM2 gangliosidosis, Tay-Sachs variant, infantile form GM2 gangliosidosis, hexosaminidase A deficiency variant, infantile form HEXA disorder, infantile form - Maladie infantile aiguë de Tay-Sachs Tay-Sachs disease, infantile form @@ -127091,7 +127263,7 @@ ICD11:5C56.00 OMIM:272800 UMLS:C5679975 - Beta-hexosaminidase subunitalpha deficiency, juvenile form + Beta-hexosaminidase subunit alpha deficiency, juvenile form GM2 gangliosidosis, Hexosaminidase A deficiency variant, juvenile form GM2 gangliosidosis, Tay-Sachs variant, juvenile form HEXA disorder, juvenile form @@ -127118,7 +127290,7 @@ ICD11:5C56.00 OMIM:272800 UMLS:C1848914 - Beta-hexosaminidase subunitalpha deficiency, adult form + Beta-hexosaminidase subunit alpha deficiency, adult form GM2 gangliosidosis, Tay-Sachs variant, adult form GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form HEXA disorder, adult form @@ -127140,7 +127312,6 @@ ICD10:Q24.4 ICD11:LA8A.5 OMIM:271950 - UMLS:C5680877 Fixed subaortic stenosis @@ -127150,9 +127321,10 @@ - GM2 gangliosidosis, B1 variant - Hexosaminidase A deficiency, B1 variant - OBSELETE:Tay-Sachs disease, B1 variant + OBSOLETE: GM2 gangliosidosis, B1 variant + OBSOLETE: Hexosaminidase A deficiency, B1 variant + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Tay-Sachs disease + OBSOLETE: Tay-Sachs disease, B1 variant true @@ -127239,7 +127411,7 @@ UMLS:C5680110 Hereditary CDI Hereditary neurogenic diabetes insipidus - Hereditary central diabetes insipidus + Hereditary arginine vasopressin deficiency @@ -128366,6 +128538,7 @@ ICD10:E83.4 ICD11:5C64.41 OMIM:248250 + UMLS:C4511528 FHHNC without severe ocular involvement HOMG3 Renal hypomagnesemia type 3 @@ -128565,9 +128738,7 @@ - ICD-10:L43.8 ICD-11:EA91.41 - ICD10:L43.8 ICD11:EA91.41 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Oral erosive lichen @@ -128675,8 +128846,6 @@ - ICD-10:Q87.8 - ICD10:Q87.8 OMIM:268650 UMLS:C3502049 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Schinzel-Giedion syndrome @@ -128889,11 +129058,11 @@ - ACPS III - ACPS with leg hypoplasia - Acrocephalopolysyndactyly type 3 - Sakati syndrome - Sakati-Nyhan-Tisdale syndrome + OBSOLETE: ACPS III + OBSOLETE: ACPS with leg hypoplasia + OBSOLETE: Acrocephalopolysyndactyly type 3 + OBSOLETE: Sakati syndrome + OBSOLETE: Sakati-Nyhan-Tisdale syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Sakati-Nyhan syndrome true @@ -129003,7 +129172,6 @@ MESH:D017490 MeSH:D017490 MedDRA:10023686 - OMIM:146750 OMIM:242300 OMIM:601277 OMIM:604777 @@ -129067,7 +129235,7 @@ - Triphalangeal thumbs-dislocation of patella syndrome + OBSOLETE: Triphalangeal thumbs-dislocation of patella syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy OBSOLETE: Say-Field-Coldwell syndrome true @@ -129102,10 +129270,8 @@ - ICD-10:M42.0 - ICD10:M42.0 - Scheuermann juvenile kyphosis - Spinal osteochondrosis + NON RARE IN EUROPE: Scheuermann juvenile kyphosis + NON RARE IN EUROPE: Spinal osteochondrosis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Scheuermann's disease true @@ -129267,6 +129433,8 @@ A rare presumably genetic disorder characterized by idiopathic massive splenomegaly with pancytopenia and childhood-onset chronic optic nerve edema with slowly progressive vision loss. Additional reported features include anhidrosis, urticaria and headaches. + ICD-10:H35.8 + ICD10:H35.8 OMIM:614979 UMLS:C4749914 Optic nerve edema-splenomegaly syndrome @@ -129297,14 +129465,13 @@ Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia is a rare autosomal dominant disease characterized by a complex phenotype including progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy. - ICD-10:E75.2 - ICD10:E75.2 + ICD-10:G93.4 + ICD10:G93.4 MESH:C580150 MeSH:C580150 OMIM:221820 UMLS:C3711381 ALSP - Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia Autosomal dominant leukoencephalopathy with neuroaxonal spheroids FPSG Familial dementia, Neumann type @@ -129315,7 +129482,7 @@ POLD Pigmentary orthochromatic leukodystrophy Subcortical gliosis of Neumann - Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia + Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia @@ -129585,22 +129752,6 @@ - ICD-10:F20.0 - ICD-10:F20.1 - ICD-10:F20.2 - ICD-10:F20.3 - ICD-10:F20.4 - ICD-10:F20.5 - ICD-10:F20.6 - ICD-10:F20.8 - ICD10:F20.0 - ICD10:F20.1 - ICD10:F20.2 - ICD10:F20.3 - ICD10:F20.4 - ICD10:F20.5 - ICD10:F20.6 - ICD10:F20.8 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Schizophrenia true @@ -130151,7 +130302,9 @@ Ovarian fibrothecoma is a rare, benign, sex cord-stromal neoplasm, with a typically unilateral location in the ovary, characterized by mixed features of both fibroma and thecoma. Patients may be asymptomatic or may present with pelvic/abdominal pain and/or distension and, occasionally, with post-menopausal bleeding. Large tumors (>10cm) are often associated with pleural effusion and ascites (the Meigs syndrome triad). ICD-10:D27 + ICD-11:2F32.Y ICD10:D27 + ICD11:2F32.Y UMLS:C4707356 Ovarian fibrothecoma @@ -130200,9 +130353,12 @@ A rare, genetic, renal tubular disease characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual disability, short stature and facial dysmorphism. There have been no further descriptions in the literature since 1990. ICD-10:N25.1 ICD10:N25.1 + MESH:C535949 + MeSH:C535949 OMIM:221995 - UMLS:C5680732 - Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome + UMLS:C2931070 + Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome + Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome @@ -130426,10 +130582,18 @@ - - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis - OBSOLETE: CLN11 disease - true + + + + + + + + + + + Neuronal ceroid cipofuscinosis type 11 + CLN11 disease @@ -130452,9 +130616,10 @@ ICD10:E75.4 OMIM:606693 UMLS:C5230619 - CLN12 disease + ATP13A2-related juvenile neuronal ceroid lipofuscinosis Juvenile parkinsonism-neuronal ceroid lipofuscinosis - ATP13A2-related juvenile neuronal ceroid lipofuscinosis + Neuronal ceroid cipofuscinosis type 12 + CLN12 disease @@ -130548,6 +130713,7 @@ ICD-10:Q93.5 ICD10:Q93.5 OMIM:616158 + UMLS:C4708510 5q31.3 microdeletion syndrome Del(5)(q31.3) Monosomy 5q31.3 @@ -131067,7 +131233,7 @@ ICD-10:G91.2 ICD10:G91.2 - Chronic adult hydrocephalus + NON RARE IN EUROPE: Chronic adult hydrocephalus This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Normal pressure hydrocephalus true @@ -131254,8 +131420,6 @@ - ICD-10:M41.1 - ICD10:M41.1 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Adolescent idiopathic scoliosis true @@ -131518,7 +131682,6 @@ ICD-11:EC20.0Y ICD10:Q82.8 ICD11:EC20.0Y - OMIM:133200 OMIM:617756 OMIM:618531 OMIM:619209 @@ -131595,8 +131758,6 @@ - ICD-11:8B44.0Z - ICD11:8B44.0Z MESH:C564815 MeSH:C564815 UMLS:C1849156 @@ -131637,6 +131798,7 @@ MESH:C538302 MeSH:C538302 + UMLS:C2931805 Partial deletion of chromosome 12p Partial monosomy of chromosome 12p Partial monosomy of the short arm of chromosome 12 @@ -131783,7 +131945,7 @@ - Sillence syndrome (brachydactyly-symphalangism syndrome) resembles type A1 brachydactyly (variable shortening of the middle phalanges of all digits) with associated symphalangism (producing a distal phalanx with the shape of a chess pawn). Scoliosis, clubfoot and tall stature are also characteristic. + A rare genetic syndrome with limb malformations as a major feature characterized by brachydactyly and distal symphalangism, pes cavus, scoliosis, and normal stature. There have been no further descriptions in the literature since 1978. ICD-10:Q74.8 ICD10:Q74.8 MESH:C537338 @@ -131916,6 +132078,8 @@ Eyebrow duplication-syndactyly syndrome is characterised by partial duplication of the eyebrows and syndactyly of the fingers and toes. It has been described in three patients (a brother and sister and an isolated case). Skin hyperelasticity, hypertrichosis and long eyelashes, and abnormal periorbital wrinkling were also reported in some of the patients. Transmission is autosomal recessive. + ICD-10:Q87.8 + ICD10:Q87.8 OMIM:227210 UMLS:C4518569 Eyebrow duplication-syndactyly syndrome @@ -132036,6 +132200,7 @@ ICD10:D81.8 ICD11:4A01.1Y OMIM:612782 + UMLS:C2748568 CID due to ORAI1 deficiency Combined immunodeficiency due to ORAI1 deficiency @@ -132059,6 +132224,7 @@ ICD10:D81.8 ICD11:4A01.1Y OMIM:612783 + UMLS:C2748557 CID due to STIM1 deficiency Combined immunodeficiency due to STIM1 deficiency @@ -132097,6 +132263,8 @@ + + @@ -132112,8 +132280,8 @@ UMLS:C3275445 CID due to MAGT1 deficiency Combined immunodeficiency due to MAGT1 deficiency - XMEN - X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia + X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia + XMEN @@ -132210,7 +132378,7 @@ - Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis. + A rare spondylodysplastic syndrome characterized by camptodactyly, cervical platyspondyly, and variable degrees of thoracic scoliosis. There have been no further descriptions in the literature since 1995. ICD-10:Q87.5 ICD10:Q87.5 MESH:C535779 @@ -132284,7 +132452,7 @@ - Ethylene glycol poisoning is a rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure. + A rare poisoning resulting in elevated anion gap metabolic acidosis, due to the production of glycolic acid, glyoxylic acid, and oxalic acid by alcohol dehydrogenase (ADH) in the liver when ethylene glycol is metabolized, characterized initially by euphoria, slurred speech, encephalopathy, coma and seizures, and followed by late manifestations such as tachycardia, arrhythmias, myocardial depression, hemodynamic imbalance and, finally, acute renal failure. ICD-10:T52.8 ICD-11:NE61 ICD10:T52.8 @@ -132301,7 +132469,7 @@ - Paraquat poisoning is a rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported. + A rare intoxication with paraquat (a non-selective bipyridilium herbicide that has been banned in Europe), usually occurring through ingestion of the poison, and that presents with caustic injury of the oral cavity and pharynx, as well as nausea, vomiting, epigastric pain, lethargy, loss of consciousness and fever. Patients may develop potentially life-threatening complications such as hepatic dysfunction, acute tubular necrosis and renal insufficiency, and respiratory failure (due to pulmonary fibrosis) due to its inherent toxicity and lack of effective treatment. Intoxication via inhalation, injection and dermal or mucus contact have also been reported. ICD-10:T60.3 ICD-11:NE61 ICD10:T60.3 @@ -132380,9 +132548,9 @@ ICD-10:E28.2 ICD10:E28.2 - PCOS - Polycystic ovarian syndrome - Stein-Leventhal syndrome + NON RARE IN EUROPE: PCOS + NON RARE IN EUROPE: Polycystic ovarian syndrome + NON RARE IN EUROPE: Stein-Leventhal syndrome This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Polycystic ovary syndrome true @@ -132419,9 +132587,9 @@ A rare progressive and life-threatening anomaly of the great vessels characterized by narrowing and obstruction of one or more normally positioned pulmonary vein at their junction with the left atrium. Presentation is typically during early infancy with dyspnea, tachypnea, and repeated pulmonary infections. Eventually, when all pulmonary veins of one lung are affected, the disorder results in pulmonary hypertension (PH) and consecutive pulmonary arterial hypertension (PAH). It may manifest as an isolated lesion or associated with other cardiac defects such as congenital pulmonary venous return anomaly and septal defects. - ICD-10:Q26.3 + ICD-10:Q26.8 ICD-11:LA86.3 - ICD10:Q26.3 + ICD10:Q26.8 ICD11:LA86.3 UMLS:C5680865 Congenital pulmonary veins atresia or stenosis @@ -132721,7 +132889,12 @@ Lujo hemorrhagic fever, caused by the Lujo virus (a newly discovered Old World arenavirus) is a zoonotic disease from Zambia, Africa, whose reservoir is unknown and is characterized by fever and hemorrhagic manifestations with an extremely high fatality rate of 80% (in the 5 reported cases to date) and a moderate to high level of nosocomial transmission. ICD-10:A96.8 + ICD-11:1D6Y ICD10:A96.8 + ICD11:1D6Y + MESH:C000723471 + MeSH:C000723471 + MedDRA:10079325 UMLS:C4274433 Zambian hemorrhagic fever Lujo hemorrhagic fever @@ -132837,6 +133010,8 @@ ICD-11:1D6Y ICD10:A96.8 ICD11:1D6Y + MESH:C000723468 + MeSH:C000723468 UMLS:C4274434 Chapare hemorrhagic fever @@ -133060,7 +133235,7 @@ - Renal cell carcinoma after neuroblastoma + OBSOLETE: Renal cell carcinoma after neuroblastoma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Renal cell carcinoma OBSOLETE: Renal cell carcinoma associated with neuroblastoma true @@ -133842,6 +134017,7 @@ ICD10:D84.8 ICD11:4A00.2 OMIM:300636 + UMLS:C1970879 X-linked MSMD due to IKBKG deficiency X-linked MSMD due to NEMO deficiency X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency @@ -133868,6 +134044,7 @@ MESH:C567068 MeSH:C567068 OMIM:300645 + UMLS:C1970859 X-linked MSMD due to CYBB deficiency X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency @@ -133990,16 +134167,6 @@ - ICD-10:F70 - ICD-10:F71 - ICD-10:F72 - ICD-10:F73 - ICD-10:F78 - ICD10:F70 - ICD10:F71 - ICD10:F72 - ICD10:F73 - ICD10:F78 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Unexplained intellectual disability true @@ -134102,8 +134269,6 @@ - ICD-10:E73.8 - ICD10:E73.8 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Lactase non-persistence in adulthood true @@ -134115,8 +134280,6 @@ - ICD-10:E79.8 - ICD10:E79.8 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Inosine triphosphate pyrophosphatase deficiency true @@ -134128,10 +134291,8 @@ - ICD-10:H53.5 - ICD10:H53.5 - Partial achromatopsia, protan type - Protanopia + NON RARE IN EUROPE: Partial achromatopsia, protan type + NON RARE IN EUROPE: Protanopia This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Partial color blindness, protan type true @@ -134143,10 +134304,8 @@ - ICD-10:H53.5 - ICD10:H53.5 - Deuteranopia - Partial achromatopsia, deutan type + NON RARE IN EUROPE: Deuteranopia + NON RARE IN EUROPE: Partial achromatopsia, deutan type This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Partial color blindness, deutan type true @@ -134922,12 +135081,6 @@ - - - - - - @@ -134949,6 +135102,7 @@ SWS Schwartz-Jampel syndrome type 2 Stüve-Wiedemann dysplasia + Stüve-Wiedemann syndrome type 1 Stüve-Wiedemann syndrome @@ -135011,6 +135165,8 @@ ICD-11:5C53.2Y ICD10:G71.3 ICD11:5C53.2Y + MESH:C565375 + MeSH:C565375 OMIM:252011 OMIM:619166 OMIM:619167 @@ -135066,17 +135222,16 @@ - - - - A rare syndromic trigonocephaly characterized by marked malformations of the head and face (essentially acrocephaly), broad depressed nasal bridge, narrow maxillae, abnormalities of the hands and feet (polydactyly, brachydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), obesity and congenital heart disease. This disease is considered a variant of Carpenter syndrome without intellectual disabaility. There have been no further descriptions in the literature since 1992. + ICD-10:Q82.0 ICD10:Q82.0 MESH:C538142 MeSH:C538142 OMIM:272350 UMLS:C1802405 + This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Carpenter syndrome Summitt syndrome + true @@ -135085,8 +135240,6 @@ - ICD-10:H47.2 - ICD10:H47.2 OMIM:125250 UMLS:C2931440 Autosomal dominant optic atrophy and congenital hearing loss @@ -135102,7 +135255,6 @@ - OMIM:304700 UMLS:C1839564 Jensen syndrome hearing loss-opticoacoustic nerve atrophy-dementia syndrome @@ -135143,7 +135295,7 @@ - Davenport-Donlan syndrome + OBSOLETE: Davenport-Donlan syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Syndromic genetic deafness OBSOLETE: Deafness-white hair-contractures-papillomas syndrome true @@ -135309,8 +135461,6 @@ - OMIM:188570 - OMIM:274300 Deafness-thyroid hormone resistance syndrome Hearing loss-thyroid hormone resistance syndrome Refetoff syndrome @@ -135401,13 +135551,7 @@ - - - - - - - A rare genetic disease characterized by the association of primary lymphedema (typically presenting in one or both lower limbs and frequently affecting the genitalia) and acute myeloid leukemia (often preceded by pancytopenia or myelodysplasia), with or without congenital deafness. Additional reported features include bilateral syndactyly of the toes, hypotelorism and epicanthic folds, long tapering fingers, and neck webbing. + ICD-10:D46.7 ICD-11:BD93.0 ICD10:D46.7 @@ -135416,7 +135560,9 @@ UMLS:C3279664 Emberger syndrome Hearing loss-lymphedema-leukemia syndrome + This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to GATA2 deficiency spectrum Deafness-lymphedema-leukemia syndrome + true @@ -135425,8 +135571,8 @@ - Neurosensory hearing loss-pituitary dwarfism syndrome - Winkelmann-Bethge-Pfeiffer syndrome + OBSOLETE: Neurosensory hearing loss-pituitary dwarfism syndrome + OBSOLETE: Winkelmann-Bethge-Pfeiffer syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome OBSOLETE: Neurosensory deafness-pituitary dwarfism syndrome true @@ -135493,6 +135639,7 @@ Deafness-onychodystrophy syndrome is a group of rare, genetic, developmental defect during embryogenesis disorders characterized by the association of sensorineural deafness and onychodystrophy (e.g. absent/hypoplastic finger and toenails), as well as brachydactyly and finger-like thumbs. Additional features present in one of the diseases comprising this group include osteodystrophy, intellectual disability, seizures, developmental delay, and distinctive facies. OMIM:124480 OMIM:220500 + UMLS:C4751208 Hearing loss-onychodystrophy syndrome Deafness-onychodystrophy syndrome @@ -135810,6 +135957,7 @@ ICD10:G11.1 ICD11:5C50.Y OMIM:614831 + UMLS:C3553816 Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency Autosomal recessive spinocerebellar ataxia type 13 SCAR13 @@ -135845,9 +135993,9 @@ - + - + @@ -136470,9 +136618,9 @@ - + A rare infectious disease characterized by acute onset of high fever associated with debilitating polyarthralgia and usually accompanied by an erythematous skin rash (that may progress to vesiculobullous lesions in children) caused by the mosquitoe-borne Chikungunya virus. Myalgia, severe headache, and lymphadenopathy are frequently associated. Chronically the disease may cause recurrent, long-term polyarthralgia, arthritis, fatigue, and depression. ICD-10:A92.0 ICD-11:1D40 @@ -136514,6 +136662,7 @@ ICD11:ED02 MESH:C535645 MeSH:C535645 + MedDRA:10078888 UMLS:C0301928 GDS Gardner-Diamond syndrome @@ -136766,7 +136915,7 @@ ICD11:LB90.Y OMIM:185700 UMLS:C1861401 - Distal symphalangism + Isolated distal symphalangism @@ -136960,7 +137109,7 @@ - Adult-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome + OBSOLETE: Adult-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using SAPHO syndrome OBSOLETE: Adult-onset SAPHO syndrome true @@ -136972,7 +137121,7 @@ - Juvenile-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome + OBSOLETE: Juvenile-onset synovitis-acne-pustulosis-hyperostosis-osteitis syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using SAPHO syndrome OBSOLETE: Juvenile-onset SAPHO syndrome true @@ -136984,8 +137133,6 @@ - ICD-10:D89.8 - ICD10:D89.8 Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Proteasome-associated autoinflammatory syndrome JMP syndrome @@ -137060,8 +137207,6 @@ - ICD-10:D89.8 - ICD10:D89.8 Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Proteasome-associated autoinflammatory syndrome CANDLE syndrome @@ -137607,15 +137752,9 @@ - - - - - - - + @@ -137634,12 +137773,6 @@ - - - - - - @@ -137656,7 +137789,6 @@ MedDRA:10069521 OMIM:601859 OMIM:603909 - OMIM:615559 OMIM:618534 UMLS:C1328840 ALPS @@ -137707,11 +137839,10 @@ ICD-11:LB90.1 ICD10:Q74.0 ICD11:LB90.1 - OMIM:143050 OMIM:236400 UMLS:C2930865 - Humero-radial fusion - Humero-radial synostosis + Isolated congenital humeroradial fusion + Isolated humero-radial synostosis @@ -137728,8 +137859,8 @@ ICD10:Q74.0 ICD11:LB90.0 UMLS:C4751207 - Humero-radio-ulnar fusion - Humero-radio-ulnar synostosis + Isolated congenital humero-radioulnar fusion + Isolated humero-radio-ulnar synostosis @@ -137778,8 +137909,8 @@ ICD11:LB90.3 OMIM:179300 UMLS:C5679809 - Radioulnar fusion - Congenital radioulnar synostosis + Isolated congenital radioulnar fusion + Isolated radio-ulnar synostosis @@ -137967,7 +138098,7 @@ - Syringomyelia is characterised by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord, either as a result of a known cause (secondary syringomyelia, SS) or, more rarely, due to an unknown cause (primary syringomyelia, PS). + A rare medullar disease characterized by cerebrospinal fluid (CSF)-filled cavities (syrinx) inside the spinal cord as a result of an obstruction to CSF flow, either at the craniovertebral junction (Chiari malformation) or in the perimedullary subarachnoid spaces (arachnoiditis). ICD-11:8D66 ICD11:8D66 MESH:D013595 @@ -137975,7 +138106,6 @@ MedDRA:10042928 OMIM:186700 UMLS:C0039144 - Hydromyelia Syringomyelia @@ -138004,7 +138134,7 @@ - Rare bone disease with limb hypoplasia + OBSOLETE: Rare bone disease with limb hypoplasia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Syndrome with limb reduction defects OBSOLETE: Rare bone disease with limb reduction defect true @@ -138130,8 +138260,6 @@ - ICD-10:K00.2 - ICD10:K00.2 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Taurodontism true @@ -138326,7 +138454,7 @@ - Congenital muscular dystrophy-muscle hypertrophy-intellectual disability due to POMT1 syndrome + OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-intellectual disability due to POMT1 syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital muscular dystrophy due to dystroglycanopathy OBSOLETE: Congenital muscular dystrophy-muscle hypertrophy-severe intellectual disability syndrome true @@ -138390,14 +138518,15 @@ - Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome is a rare, genetic, syndromic intellectual disability syndrome characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected) and facial dysmorphism which typically includes full, arched eyebrows, hypertelorism, down-slanting palpebral fissures, long eyelashes, ptosis, low-set, simple ears, bulbous nasal tip, flat philtrum, wide mouth with downturned corners and thin upper lip and diastema of the teeth. Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or ocular defects, may be observed. + A rare genetic syndromic intellectual disability characterized by mild to moderate intellectual disability, developmental delay (with speech and language development more severely affected). Association with infantile hypotonia, seizures, cryptorchidism in males and congenital abnormalities, including cardiac, cerebral or ocular defects, may be observed. ICD-10:Q87.0 ICD10:Q87.0 OMIM:615009 UMLS:C4751005 + PACS1-NDD + PACS1-neurodevelopmental disorder PACS1-related syndrome - Schuurs-Hoeijmakers syndrome - Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome + Schuurs-Hoeijmakers syndrome @@ -138496,6 +138625,7 @@ ICD-11:5B81.Y ICD10:E66.8 ICD11:5B81.Y + UMLS:C5190989 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency @@ -138516,9 +138646,6 @@ - ICD-10:Q87.0 - ICD10:Q87.0 - OMIM:244450 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Oculocerebrofacial syndrome, Kaufman type Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency true @@ -138686,9 +138813,9 @@ + - A rare vascular anomaly characterized by the association of capillary and venous malformations with hypotrophy or shortening of an affected limb due to alterations in bones, muscles, or subcutaneous tissues. In most cases, at least one of the findings is noted shortly after birth, while the other components become evident later in infancy. ICD-10:Q87.2 @@ -138774,8 +138901,8 @@ - Limbic encephalitis with DPPX antibodies - Limbic encephalitis with dipeptidyl-peptidase 6 antibodies + OBSOLETE: Limbic encephalitis with DPPX antibodies + OBSOLETE: Limbic encephalitis with dipeptidyl-peptidase 6 antibodies This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autoimmune encephalitis OBSOLETE: Limbic encephalitis with DPP6 antibodies true @@ -138791,6 +138918,8 @@ Extensor tendons of finger anomalies is a rare, genetic, congenital limb malformation characterized by bilateral anomalous attachment of the extensor tendons of the four ulnar fingers. Attachment occurrs to the medial and lateral aspects of the middle phalanges leading to constant flexion in the midphalangeal joints and inability to extend the fingers. There have been no further descriptions in the literature since 1980. + ICD-10:Q74.0 + ICD10:Q74.0 MESH:C536960 MeSH:C536960 OMIM:187390 @@ -138860,8 +138989,9 @@ ICD10:C94.2 ICD11:2A60.36 UMLS:C5679860 + Acute megakaryoblastic leukemia in children without trisomy 21 Non-DS-AMKL - Acute megakaryoblastic leukemia without Down syndrome + Acute megakaryoblastic leukemia in children without Down syndrome @@ -138872,8 +139002,6 @@ - - @@ -138914,9 +139042,10 @@ + - + @@ -139379,8 +139508,6 @@ - ICD-10:H35.0 - ICD10:H35.0 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Macular telangiectasia type 2 true @@ -139414,7 +139541,7 @@ - A rare syndromic lymphedema disorder characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations. + A rare autosomal dominant syndromic lymphedema characterized by lower-limb lymphedema and varying degrees of abnormal growth of eyelashes from the orifices of the Meibomian glands (distichiasis), with occasional associated manifestations. ICD-10:Q82.0 ICD-11:BD93.0 ICD10:Q82.0 @@ -139632,6 +139759,7 @@ ICD11:EJ30.Y MESH:D006837 MeSH:D006837 + MedDRA:10083442 UMLS:C0020241 Hydroa vacciniforme @@ -139651,6 +139779,7 @@ ICD11:EJ30.Y MESH:C566780 MeSH:C566780 + MedDRA:10000616 OMIM:174770 UMLS:C0406217 Familial polymorphous light eruption of American Indians @@ -139724,8 +139853,8 @@ - Genetic MCA/variable MR - Genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome + OBSOLETE: Genetic MCA/variable MR + OBSOLETE: Genetic multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome true @@ -140222,6 +140351,7 @@ + @@ -140239,10 +140369,12 @@ MESH:C567260 MeSH:C567260 OMIM:612541 + SCN due to G6PC3 deficiency SCN4 + Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency Severe congenital neutropenia type 4 Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome - Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency + Severe congenital neutropenia due to G6PC3 deficiency @@ -140253,7 +140385,9 @@ UMLS:C5680943 - Constitutional neutropenia with extra-hematopoietic manifestations + Syndrome with constitutional neutropenia as a major feature + Syndrome with genetic neutropenia as a major feature + Syndrome with congenital neutropenia as a major feature @@ -140272,7 +140406,9 @@ Immunodeficiency due to MASP-2 deficiency is a rare, genetic immunodeficiency due to a complement cascade protein anomaly characterized by low serum levels of MASP-2 and a variable susceptibility to bacterial infections (e.g. pulmonary tuberculosis, pneumococcal pneumonia, skin abscesses and sepsis), and autoimmune diseases (e.g. inflammatory lung disease, cystic fibrosis, systemic lupus erythematosus). In many cases it remains asymptomatic. ICD-10:D84.1 + ICD-11:4A00.1Y ICD10:D84.1 + ICD11:4A00.1Y OMIM:613791 UMLS:C4749651 Immunodeficiency due to MASP-2 deficiency @@ -140294,7 +140430,9 @@ Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with <i>Staphylococcus aureus</i> to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear. ICD-10:D84.1 + ICD-11:4A00.1Y ICD10:D84.1 + ICD11:4A00.1Y OMIM:613860 UMLS:C5680944 Immunodeficiency due to ficolin3 deficiency @@ -140378,7 +140516,7 @@ UMLS:C5680946 - Immunodeficiency due to absence of thymus + Syndome with combined immunodeficiency due to thymic defect @@ -140443,6 +140581,7 @@ ICD-11:4A01.04 ICD10:D80.4 ICD11:4A01.04 + MedDRA:10039916 UMLS:C0154275 Selective immunoglobulin M deficiency Selective IgM deficiency @@ -140483,7 +140622,10 @@ ICD-11:4A01.20 ICD11:4A01.20 UMLS:C5680942 - Immunodeficiency syndrome with hypopigmentation + Genetic HLH with hypopigmentation + Genetic hemophagocytic lymphohistiocytosis with hypopigmentation + Primary HLH with hypopigmentation + Primary hemophagocytic lymphohistiocytosis with hypopigmentation @@ -140492,7 +140634,7 @@ - Thiele syndrome + OBSOLETE: Thiele syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple congenital anomalies/dysmorphic syndrome-intellectual disability OBSOLETE: Intellectual disability-microcephaly-unusual facies syndrome true @@ -140928,9 +141070,7 @@ - ICD-10:K76.0 - ICD10:K76.0 - NAFLD + NON RARE IN EUROPE: NAFLD This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Non-alcoholic fatty liver disease true @@ -140942,10 +141082,10 @@ - + A rare vascular tumor that is characterized by human herpes virus 8 (HHV-8)-induced endothelial inflammatory neoplasm that develops with various clinically distinct settings, manifesting mostly as cutaneous lesions, or mucosal or visceral involvement. ICD-10:C46.0 ICD-10:C46.1 @@ -140958,7 +141098,7 @@ ICD-11:1C61.30 ICD-11:2B57 ICD-11:2B57.0 - ICD-11:2B57.1  + ICD-11:2B57.1 ICD-11:2B57.2 ICD-11:2B57.Y ICD-11:XH36A5 @@ -140998,6 +141138,8 @@ Tibia absent - polydactyly - arachnoid cyst syndrome is a very rare constellation of multiple anomalies, including absence or hypoplasia of the tibia. + ICD-10:Q87.5 + ICD10:Q87.5 MESH:C536918 MeSH:C536918 OMIM:601027 @@ -141080,7 +141222,7 @@ - Chitty-Hall-Webb syndrome + OBSOLETE: Chitty-Hall-Webb syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary bone dysplasia with decreased bone density OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome true @@ -141094,11 +141236,12 @@ - Jessner lymphocytic infiltration of the skin (JLIS) is a chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck. + A rare chronic benign cutaneous disease characterized by asymptomatic non-scaly erythematous papules or plaques on the face and neck. ICD-10:L98.6 ICD-11:EE90 ICD10:L98.6 ICD11:EE90 + MedDRA:10063628 UMLS:C0580181 Jessner-Kanof lymphocytic infiltration of the skin Jessner lymphocytic infiltration of the skin @@ -141110,9 +141253,6 @@ - ICD-10:Q74.8 - ICD10:Q74.8 - OMIM:188740 Hypoplastic tibia-polydactyly syndrome Werner mesomelic syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome @@ -141368,8 +141508,7 @@ OMIM:600268 UMLS:C1838329 Aplasia cutis congenita-epibulbar dermoids syndrome - Oculoectodermal syndrome - Toriello-Lacassie-Droste syndrome + Oculoectodermal syndrome @@ -141584,7 +141723,7 @@ ICD-10:L90.0 ICD10:L90.0 - Lichen sclerosus et atrophicus + NON RARE IN EUROPE: Lichen sclerosus et atrophicus This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Lichen sclerosus true @@ -141675,6 +141814,7 @@ OMIM:112350 UMLS:C1862172 Anterior bowing of legs with dwarfism + Toxopachyosteose diaphysaire tibio-peroniere WNS Weismann-Netter-Stuhl syndrome Weismann-Netter syndrome @@ -141700,7 +141840,7 @@ - Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment. + A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells. ICD-10:L81.4 ICD-11:LD27.Y ICD10:L81.4 @@ -141731,6 +141871,7 @@ MESH:C536975 MeSH:C536975 UMLS:C1261567 + Tracheal atresia Tracheal agenesis @@ -141939,8 +142080,8 @@ - Alves-dos Santos-Castelo syndrome - Ectodermal dysplasia-cataracts-kyphoscoliosis syndrome + OBSOLETE: Alves-dos Santos-Castelo syndrome + OBSOLETE: Ectodermal dysplasia-cataracts-kyphoscoliosis syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Arthrogryposis-ectodermal dysplasia syndrome OBSOLETE: Tricho-oculo-dermo-vertebral syndrome true @@ -141996,7 +142137,7 @@ - Trueb-Burg-Bottani syndrome + OBSOLETE: Trueb-Burg-Bottani syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Ectodermal dysplasia syndrome OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly true @@ -142130,7 +142271,7 @@ - Katsantoni-Papadakou Lagoyanni syndrome + OBSOLETE: Katsantoni-Papadakou Lagoyanni syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare syndromic intellectual disability OBSOLETE: Trichodermal syndrome-intellectual disability syndrome true @@ -142158,7 +142299,7 @@ - Goldstein-Hutt syndrome + OBSOLETE: Goldstein-Hutt syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial isolated trichomegaly OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome true @@ -142331,7 +142472,7 @@ A rare developmental defect during embryogenesis characterized by unilateral duplication of an eye which may appear as a synophthalmic eye in a single orbit or as two separate unilateral eyes, each in a separate orbit. The malformation is always associated with other anomalies of the central nervous system (such as porencephaly, meningocele, or arachnoidal cysts) and with craniofacial abnormalities. A proboscis is often found. Clinically, moderate mental retardation and epilepsy are typical. ICD-10:Q15.8 ICD10:Q15.8 - UMLS:C5680747 + UMLS:C5816687 Triophthalmia Triopia Unilateral diplophthalmia @@ -142542,6 +142683,12 @@ + + + + + + @@ -142557,10 +142704,10 @@ MeSH:D014339 OMIM:217095 UMLS:C0041207 + CAT Common aorticopulmonary trunk - Common arterial trunk - TAC - Truncus arteriosus + Truncus arteriosus + Common arterial trunk @@ -142608,7 +142755,6 @@ ICD-11:1F53.2 ICD-11:1F53.3 ICD-11:1F53.4 - ICD-11:IF53.Y ICD10:B57.0 ICD10:B57.1 ICD10:B57.2 @@ -142620,7 +142766,6 @@ ICD11:1F53.2 ICD11:1F53.3 ICD11:1F53.4 - ICD11:IF53.Y MESH:D014355 MeSH:D014355 MedDRA:10001935 @@ -142660,6 +142805,7 @@ MESH:D009436 MeSH:D009436 MedDRA:10052046 + UMLS:C0027794 Neural tube defect @@ -142993,7 +143139,7 @@ - Viral hemorrhagic fever is a group of recently discovered contagious viral infections characterized by severe, multiple, and often fatal hemorrhages. African fevers include Lassa fever discovered in 1969, Marburg's disease that first occurred in 1967, and Ebola fever that appeared in 1976. Other viruses may also cause hemorrhagic fevers (for example, arbovirus fever). + A rare group of infectious disease characterized by malaise, fever, exhaustion, vascular permeability, decreased plasma volume, coagulation abnormalities and varying degrees of hemorrhage. Severity of hemorrage is affected by a variety of contributing factors (depending on the pathogen and the host, whether it is primary infection or reinfection) and severly ill patients often show signs of bleeding under skin, in internal organs and in orifices. They may develop circulatory collapse, multisystem organ failure, shock, nervous system malfunction, coma, delirium, and seizures. A variety of rashes and ocular manifestations can also be associated with the diseases. They are caused by several different families of RNA viruses, including members of arenaviruses, bunyaviruses, filoviruses and flaviviruses that are capable of causing high morbidity and mortality. MESH:D006482 MeSH:D006482 UMLS:C0019104 @@ -143049,7 +143195,7 @@ ICD11:LD2F.1Y OMIM:276950 OMIM:314390 - UMLS:C5679759 + UMLS:C4305002 Sujansky-Leonard syndrome VACTERL with hydrocephalus @@ -143062,8 +143208,11 @@ + A rare glomerular disease, histologically characterized by glomerular mesangial deposits of IgA, often accompanied by IgG and complement C3 as well as mesangioproliferative changes, clinically mostly manifesting as oligosymptomatic glomerulonephritis, possibly infection-triggered macrohematuria and a variable course ranging from spontaneous remission to slow or rarely rapid progression to kidney failure. ICD-10:N02 + ICD-11:MF8Y ICD10:N02 + ICD11:MF8Y MedDRA:10021263 Berger disease IgA nephropathy @@ -143497,10 +143646,10 @@ - - - A rare viral disease caused by arboviruses and are classically characterized by encephalitis and hemorrhage, however, most commonly only aspecific fever is observed. - Arbovirus fever + + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare viral disease + OBSOLETE: Arbovirus fever + true @@ -143529,7 +143678,6 @@ OMIM:193510 OMIM:600193 OMIM:606662 - OMIM:608890 OMIM:611584 UMLS:C3266898 Waardenburg syndrome @@ -143541,9 +143689,7 @@ - ICD-10:E28.2 - ICD10:E28.2 - Hyperandrogenic-insulin resistant-acanthosis nigricans syndrome + NON RARE IN EUROPE: Hyperandrogenic-insulin resistant-acanthosis nigricans syndrome This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: HAIR-AN syndrome true @@ -143555,8 +143701,6 @@ - ICD-10:Q85.0 - ICD10:Q85.0 OMIM:193520 UMLS:C0553586 Pulmonic stenosis with 'café-au-lait' spots @@ -143572,7 +143716,7 @@ UMLS:C0220765 - This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Weaver syndrome + This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to PRC-2 complex-related overgrowth spectrum Weaver-like syndrome true @@ -143582,24 +143726,15 @@ - - - - + - - - - - - @@ -143615,10 +143750,9 @@ MeSH:C536687 MedDRA:10083271 OMIM:277590 - OMIM:617561 - OMIM:618786 UMLS:C0265210 - Camptodactyly-overgrowth-unusual facies syndrome + EZH2-related overgrowth syndrome + Syndrome d'hypercroissance associé à EZH2 Weaver syndrome @@ -143653,6 +143787,12 @@ + + + + + + @@ -143681,6 +143821,7 @@ MedDRA:10064963 OMIM:277600 OMIM:608328 + OMIM:613195 OMIM:614819 UMLS:C0265313 Spherophakia-brachymorphia syndrome @@ -143700,6 +143841,8 @@ ICD-11:ED70.51 ICD10:L66.3 ICD11:ED70.51 + MESH:C562486 + MeSH:C562486 MedDRA:10056961 OMIM:260910 UMLS:C0263506 @@ -143712,7 +143855,6 @@ - OMIM:184840 UMLS:C1848488 Pierre Robin sequence-fetal chondrodysplasia syndrome Pierre Robin syndrome-fetal chondrodysplasia syndrome @@ -143944,8 +144086,6 @@ - ICD-10:G71.8 - ICD10:G71.8 UMLS:C3148763 LGMD1E This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Desminopathy @@ -144019,9 +144159,6 @@ - ICD-10:G71.0 - ICD10:G71.0 - OMIM:603689 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hereditary myopathy with early respiratory failure Distal myopathy with early respiratory muscle involvement true @@ -144097,6 +144234,7 @@ + @@ -144248,18 +144386,22 @@ - Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit. + A rare X-linked genetic condition due to deficiency of the lysosomal-associated membrane protein 2 (LAMP2) characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficits (in males). ICD-10:E74.0 ICD-11:5C51.3 ICD10:E74.0 ICD11:5C51.3 OMIM:300257 UMLS:C0878677 - Danon disease GSD due to LAMP-2 deficiency + GSD, type 2B + GSD, type IIb + Glycogen storage disease due to LAMP-2 deficiency + Glycogen storage disease, type 2B + Glycogen storage disease, type IIb Glycogenosis due to LAMP-2 deficiency Lysosomal glycogen storage disease with normal acid maltase activity - Glycogen storage disease due to LAMP-2 deficiency + Danon disease @@ -144412,6 +144554,8 @@ OMIM:598500 OMIM:604928 UMLS:C0043207 + Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome + Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome DIDMOAD syndrome Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome @@ -144432,12 +144576,6 @@ - - - - - - Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia. ICD-10:Q87.5 ICD-11:5A61.0 @@ -144581,7 +144719,7 @@ - A rare respiratory disease characterized by recurrent sinopulmonary infections and bronchiectasis predominantly in the lower lung fields, as well as azoospermia with reduced fertility, due to production of thick, viscous mucus which causes mild airflow obstruction in the respiratory tract and obstruction of sperm transport in the genital tract. Patients commonly present in adulthood. Sweat gland and pancreatic function are normal. + A rare respiratory disease characterized by recurrent sinopulmonary infections and bronchiectasis predominantly in the lower lung fields, as well as azoospermia with reduced fertility, due to production of thick, viscous mucus which causes mild airflow obstruction in the respiratory tract and obstruction of sperm transport in the genital tract. Patients commonly present in adulthood. Sweat gland and pancreatic function are normal. The cause of the syndrome is unknown, however mercury exposure had been proposed as a potential cause. ICD-10:N46 ICD-11:CB40.1 ICD10:N46 @@ -144654,12 +144792,6 @@ - - - - - - @@ -144826,9 +144958,7 @@ - ICD-10:E88.8 - ICD10:E88.8 - Fish-odor syndrome + NON RARE IN EUROPE: Fish-odor syndrome This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Trimethylaminuria true @@ -144909,7 +145039,7 @@ ICD-10:B37 ICD10:B37 - Idiopathic cutaneous and mucosal candidiasis + NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidiasis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Idiopathic cutaneous and mucosal candidosis true @@ -145014,8 +145144,8 @@ - Non-syndromic unicoronal synostosis - Synostotic plagiocephaly + OBSOLETE: Non-syndromic unicoronal synostosis + OBSOLETE: Synostotic plagiocephaly This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic unisutural craniosynostosis OBSOLETE: Isolated plagiocephaly true @@ -145216,9 +145346,9 @@ - 17b-hydroxysteroid dehydrogenase deficiency type 10 - 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency - HSD deficiency + OBSOLETE: 17b-hydroxysteroid dehydrogenase deficiency type 10 + OBSOLETE: 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency + OBSOLETE: HSD deficiency This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency OBSOLETE: Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency true @@ -145545,7 +145675,7 @@ - Autosomal recessive LGMD with cerebellar involvement + OBSOLETE: Autosomal recessive LGMD with cerebellar involvement This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using ISPD-related limb-girdle muscular dystrophy R20 OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement true @@ -145557,8 +145687,6 @@ - ICD-10:Q87.8 - ICD10:Q87.8 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MEND syndrome Digital anomalies-intellectual disability-short stature syndrome true @@ -145607,7 +145735,7 @@ - L-DOPA-unresponsive juvenile parkinsonism + OBSOLETE: L-DOPA-unresponsive juvenile parkinsonism This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Atypical juvenile parkinsonism OBSOLETE: Levodopa-unresponsive juvenile parkinsonism true @@ -145651,7 +145779,9 @@ A rare paraneoplastic syndrome characterized by renal phosphate wasting and bone demineralization due to a phosphaturic mesenchymal tumor of the mixed connective tissue variant. It causes osteomalacia in adults with bone pain and pathological fractures, and rickets in children. ICD-10:M83.8 + ICD-11:FB80.Y ICD10:M83.8 + ICD11:FB80.Y MESH:C537751 MeSH:C537751 UMLS:C1274103 @@ -145704,6 +145834,8 @@ A rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to severe intellectual disability and hypotonia. Distinctive craniofacial features include prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Joint laxity and ulnar deviation of wrists are also frequently observed. ICD-10:Q87.0 ICD10:Q87.0 + MESH:C000726367 + MeSH:C000726367 OMIM:615485 UMLS:C4750837 Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome @@ -145799,8 +145931,6 @@ - ICD-10:N46 - ICD10:N46 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Male infertility with teratozoospermia due to single gene mutation Male infertility due to NANOS1 mutation true @@ -146086,7 +146216,7 @@ - Lissencephaly type 2A + OBSOLETE: Lissencephaly type 2A This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies OBSOLETE: Cobblestone lissencephaly type A true @@ -146098,7 +146228,7 @@ - Lissencephaly type 2C + OBSOLETE: Lissencephaly type 2C This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies OBSOLETE: Cobblestone lissencephaly type C true @@ -146110,7 +146240,7 @@ - Lissencephaly type 2B + OBSOLETE: Lissencephaly type 2B This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies OBSOLETE: Cobblestone lissencephaly type B true @@ -146121,10 +146251,19 @@ - - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis - OBSOLETE: CLN13 disease - true + + + + + + + + + + + Kufs type B disease + Neuronal ceroid cipofuscinosis type 13 + CLN13 disease @@ -146291,8 +146430,6 @@ - ICD-10:E70.3 - ICD10:E70.3 Ocular albinism with congenital sensorineural hearing loss Waardenburg syndrome type 2 with ocular albinism This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Waardenburg syndrome type 2 @@ -146447,7 +146584,7 @@ ICD-10:H40.1 ICD10:H40.1 - POAG + NON RARE IN EUROPE: POAG This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Primary adult open-angle glaucoma true @@ -146511,6 +146648,7 @@ ICD10:Q87.2 ICD11:LD44.G1 OMIM:610543 + UMLS:C1864648 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion @@ -146530,6 +146668,7 @@ ICD-10:Q87.2 ICD10:Q87.2 OMIM:613684 + UMLS:C3150941 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency @@ -146966,6 +147105,7 @@ ICD10:Q87.8 ICD11:5C50.8 OMIM:219150 + UMLS:C5234852 Delta-1-pyrroline 5-carboxylate synthetase deficiency Neurocutaneous syndrome, Bicknell type P5CS deficiency @@ -147202,8 +147342,8 @@ ICD-10:E80.4 ICD10:E80.4 - Familial cholemia - Hyperbilirubinemia type 1 + NON RARE IN EUROPE: Familial cholemia + NON RARE IN EUROPE: Hyperbilirubinemia type 1 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Gilbert syndrome true @@ -147898,6 +148038,7 @@ Malignant sex cord stromal tumor (SCST) of ovary is a rare ovarian cancer (see this term) arising from granulosa, theca, sertoli and leydig cells or stromal fibroblasts, occurring at any age and presenting with abdominal or pelvic mass, and characterized (with the exception of fibroma) by the production of sex steroids resulting in manifestations of hormone excess, with a relatively favorable prognosis. + UMLS:C1334609 Malignant ovarian SCST Malignant ovarian sex cord-stromal tumor Malignant sex cord stromal tumor of ovary @@ -148179,8 +148320,8 @@ ICD-10:D55.0 ICD10:D55.0 - Favism - G6PD deficiency + NON RARE IN EUROPE: Favism + NON RARE IN EUROPE: G6PD deficiency This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Glucose-6-phosphate-dehydrogenase deficiency true @@ -148259,7 +148400,7 @@ A rare staphylococcal toxemia caused by epidermolytic toxins of <i>Staphylococcus aureus</i> and characterized by the appearance of widespread erythematous patches, on which large blisters develop. Upon rupture of these blisters, the skin appears reddish and scalded. The lesions typically begin in the face and rapidly expand to other parts of the body. The disease may be complicated by pneumonia and sepsis. It most commonly affects newborns and infants. ICD-10:L00 - ICD-11:EA50.2  + ICD-11:EA50.2 ICD10:L00 ICD11:EA50.2 MESH:D013206 @@ -148383,6 +148524,7 @@ MESH:D012303 MeSH:D012303 MedDRA:10081894 + UMLS:C0035639 Ring chromosome @@ -148406,6 +148548,7 @@ MESH:D000072661 MeSH:D000072661 + UMLS:C4277690 Ciliopathy @@ -148718,6 +148861,7 @@ ICD-10:G12.1 ICD10:G12.1 OMIM:615290 + UMLS:C4747715 BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures SMALED2 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy @@ -148944,9 +149088,6 @@ - ICD-10:G71.0 - ICD10:G71.0 - OMIM:601419 Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency LGMD2R This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Desminopathy @@ -149042,6 +149183,7 @@ + UMLS:C3899657 Gonadal germ cell tumor @@ -149129,7 +149271,7 @@ - GMPPB-related CMD + OBSOLETE: GMPPB-related CMD This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Congenital muscular dystrophy due to dystroglycanopathy OBSOLETE: GMPPB-related congenital muscular dystrophy true @@ -149448,9 +149590,9 @@ An astrogliopathy and the most severe and common form of Alexander disease (AxD), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration. - ICD-10:E75.2 + ICD-10:G93.8 ICD-11:8A44.2 - ICD10:E75.2 + ICD10:G93.8 ICD11:8A44.2 OMIM:203450 UMLS:C5679915 @@ -149474,8 +149616,8 @@ An astrogliopathy and a form of Alexander disease (AxD) characterized by ataxia, bulbar symptoms, spastic paraparesis, palatal myoclonus, and autonomic symptoms. - ICD-10:E75.2 - ICD10:E75.2 + ICD-10:G93.8 + ICD10:G93.8 OMIM:203450 UMLS:C5679914 AxD type II @@ -149586,7 +149728,7 @@ UMLS:C4755307 COL4A1-related brain small vessel disease with hemorrhage COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome - COL4A1-related familial vascular leukoencephalopathy + COL4A1/2-related familial vascular leukoencephalopathy @@ -149622,7 +149764,7 @@ - Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. + A rare slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances in some patients, autosomal dominant inheritance, and juvenile or adulthood disease onset. ICD-10:G60.8 ICD-11:8C21.0 ICD10:G60.8 @@ -149667,6 +149809,18 @@ + + + + + + + + + + + + @@ -149927,16 +150081,11 @@ - - - - - - A rare, syndromic ichthyosis characterized by a collodion membrane at birth, generalized congenital ichthyosis, microspherophakia, myopia, ectopia lentis, short stature with brachydactyly and joint stiffness, and occasionally mitral valve dysplasia. ICD-10:Q87.8 ICD10:Q87.8 OMIM:613195 + OMIM:615023 UMLS:C5190986 15q26.3 microdeletion syndrome Ichthyosis-short stature-brachydactyly-microspherophakia syndrome @@ -150093,7 +150242,9 @@ A very rare Epstein-Barr virus-associated lymphoproliferative disorder characterized by a chronic, recurrent, vesiculopapular rash, which subsequently ulcerates and scars, located mainly on sun-exposed areas and which is associated with systemic manifestations, such as fever, weight loss, asthenia, facial edema, arthralgia, lymphadenopathy, hepatosplenomegaly and/or increased liver enzymes. Hypersensitivity to mosquito bites has been associated and an increased risk of developing systemic lymphoma has been reported. ICD-10:C84.5 + ICD-11:2B0Y ICD10:C84.5 + ICD11:2B0Y UMLS:C1708397 Angiocentric cutaneous T-cell lymphoma of childhood HVLL @@ -150389,7 +150540,6 @@ - Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness. @@ -150416,10 +150566,10 @@ - - - UMLS:C5680976 - Aggrecan-related bone disorder + + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Proteoglycan-related bone disorder + OBSOLETE: Aggrecan-related bone disorder + true @@ -150772,7 +150922,6 @@ A rare, genetic, syndromic intellectual disability disease characterized by global developmental delay, microcephaly, mild to moderate intellectual disability, truncal ataxia, trunk and limb, or generalized, choreiform movements, and elevated serum creatine kinase levels. Variably associated features include mild cerebral atrophy, muscular weakness or hypotonia in early childhood, and/or seizures. Ocular abnormalities (e.g. exophoria, anisometropia, amblyopia) have been reported. ICD-10:G25.5 ICD10:G25.5 - OMIM:615356 UMLS:C5192595 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome @@ -150785,12 +150934,6 @@ - - - - - - @@ -150804,6 +150947,7 @@ UMLS:C4755251 Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome VPS45 deficiency + Vacuolar sorting protein 45 deficiency Congenital neutropenia-myelofibrosis-nephromegaly syndrome @@ -151139,6 +151283,7 @@ ICD10:E71.1 ICD11:5C50.E0 OMIM:614857 + UMLS:C3553915 CblJ defects Cobalamin J defect Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ @@ -151164,6 +151309,7 @@ ICD10:E71.1 ICD11:5C50.E0 OMIM:309541 + UMLS:C0796208 Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX Methylmalonic aciduria with homocystinuria, type cblX Methylmalonic acidemia with homocystinuria, type cblX @@ -151212,7 +151358,6 @@ - @@ -151352,8 +151497,6 @@ - ICD-10:Q87.8 - ICD10:Q87.8 OMIM:615926 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Septo-optic dysplasia spectrum Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome @@ -151384,6 +151527,12 @@ + + + + + + A rare primary bone dysplasia disorder characterized by normal birth length with early postnatal growth deficiency resulting in severe disproportionate short stature (with short trunk and limbs), severe genu varum, flexion contractures in the hips and lumbar hyperlordosis. Radiological findings reveal platyspondyly with central indentation of vertebral endplates, progressive and severe epimetaphyseal abnormalities that primarily affect the lower limbs and include very small, irregular proximal femoral and knee epiphyses, severe coxa vara, delayed ossification of proximal femoral epiphyses, and irregular distal femoral and proximal tibial metaphyses. ICD-10:Q77.8 ICD10:Q77.8 @@ -151399,8 +151548,6 @@ - ICD-10:Q77.8 - ICD10:Q77.8 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spondylometaphyseal dysplasia, A4 type Spondylometaphyseal dysplasia, Czarny-Ratajczak type true @@ -151718,8 +151865,6 @@ - ICD-10:G11.3 - ICD10:G11.3 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Ataxia-telangiectasia variant Combined cervical dystonia true @@ -151854,6 +151999,7 @@ ICD11:4A01.21 MESH:C580192 MeSH:C580192 + MedDRA:10080631 OMIM:304790 UMLS:C0342288 Autoimmune enteropathy type 1 @@ -152020,8 +152166,6 @@ - ICD-10:E77.8 - ICD10:E77.8 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to GM3 synthase deficiency Salt-and-pepper syndrome true @@ -152356,7 +152500,7 @@ - X-linked CDG with intellectual disability as a major feature + OBSOLETE: X-linked CDG with intellectual disability as a major feature This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare syndromic intellectual disability OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature true @@ -152368,7 +152512,7 @@ - Non-X-linked CDG with intellectual disability as a major feature + OBSOLETE: Non-X-linked CDG with intellectual disability as a major feature This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare syndromic intellectual disability OBSOLETE: Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature true @@ -152711,12 +152855,9 @@ - ICD-10:Q87.0 - ICD10:Q87.0 MESH:D006053 MeSH:D006053 OMIM:164210 - UMLS:C0265240 Facioauriculovertebral sequence This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Oculo-auriculo-vertebral spectrum Goldenhar syndrome @@ -152871,8 +153012,6 @@ - ICD-10:D70 - ICD10:D70 MedDRA:10029358 UMLS:C0543693 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Severe congenital neutropenia @@ -153034,8 +153173,8 @@ ICD-10:M35.0 ICD10:M35.0 - Sicca syndrome - Sjögren-Gougerot syndrome + NON RARE IN EUROPE: Sicca syndrome + NON RARE IN EUROPE: Sjögren-Gougerot syndrome This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Sjögren syndrome true @@ -153048,7 +153187,6 @@ - @@ -153056,6 +153194,7 @@ + @@ -153228,8 +153367,6 @@ - ICD-10:H90.3 - ICD10:H90.3 OMIM:304400 UMLS:C1844678 Conductive deafness with stapes fixation @@ -153327,11 +153464,11 @@ ICD-10:L73.2 ICD10:L73.2 - Acne inversa - Ectopic acne - Fox den disease - Pyoderma fistulans significa - Verneuil disease + NON RARE IN EUROPE: Acne inversa + NON RARE IN EUROPE: Ectopic acne + NON RARE IN EUROPE: Fox den disease + NON RARE IN EUROPE: Pyoderma fistulans significa + NON RARE IN EUROPE: Verneuil disease This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Hidradenitis suppurativa true @@ -153661,8 +153798,10 @@ OMIM:606660 OMIM:606661 UMLS:C0220633 - Choroidal melanoma - Iris melanoma + Choroid melanoma + Choroidal and ciliary body melanomas + Melanoma of choroid + Melanoma of uvea Uveal melanoma @@ -154022,6 +154161,7 @@ ICD10:M79.6 ICD11:MG31.Y OMIM:615040 + UMLS:C3808667 Familial episodic pain syndrome with predominantly upper body involvement @@ -154044,6 +154184,7 @@ ICD10:M79.6 ICD11:MG31.Y OMIM:615552 + UMLS:C3809899 Familial episodic pain syndrome with predominantly lower limb involvement @@ -154262,7 +154403,7 @@ - Syndromic median cleft syndrome + OBSOLETE: Syndromic median cleft syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Frontonasal dysplasia OBSOLETE: Syndromic frontonasal dysplasia true @@ -154280,6 +154421,7 @@ + @@ -154297,7 +154439,7 @@ ICD10:K63.9 OMIM:614162 UMLS:C4302671 - Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome + STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome @@ -154411,6 +154553,7 @@ ICD10:Q87.8 ICD11:LD2F.1Y OMIM:614326 + UMLS:C3280489 Brachydactyly-short stature-microcephaly syndrome Brunner-Winter syndrome type 2 FGLDS2 @@ -154436,6 +154579,7 @@ ICD11:2E81.0Z MESH:D005918 MeSH:D005918 + MedDRA:10018381 UMLS:C0017653 Glomus tumor @@ -154500,7 +154644,9 @@ A rare disorder of lipid metabolism characterized by severely elevated plasma total cholesterol, low-density lipoprotein (LDL) cholesterol levels, and subsequent premature formation of atherosclerotic plaques in the coronary arteries, proximal aorta, and other arteries, significantly increasing the risk of premature cardiovascular disease and death. Xanthomas of the skin and in tendons are also a hallmark of the disease. Lethality is high due to early complications, in particular myocardial infarction and aortic valvular disease. ICD-10:E78.0 + ICD-11:5C80.00 ICD10:E78.0 + ICD11:5C80.00 MESH:D000090542 MeSH:D000090542 MedDRA:10057080 @@ -155851,8 +155997,11 @@ + A rare Prader-Willi-like syndrome characterized by arthrogryposis, including contractures of the proximal and distal interphalangeal joints, and autism spectrum disorder due to MAGEL2 mutation. Overlapping phenotypes with Prader-Willi syndrome include hypotonia, feeding difficulties, weigth gain, developmental delay, intellectual disability and hypogonadism. Minority of patients manifest hyperphagia and morbid obesity in contrast to patients with Prader-Willi syndrome. ICD-10:Q87.1 ICD10:Q87.1 + MESH:C000726748 + MeSH:C000726748 OMIM:615547 UMLS:C5575066 MAGEL2-related PWLS @@ -155872,7 +156021,7 @@ - Prader-Willi-like syndrome is a rare, genetic, endocrine disease characterized by manifestations of a Prader-Willi syndrome phenotype (including obesity, hyperphagia, hypotonia, psychomotor delay, intellectual disability, small hands/feet, hypogonadism, growth hormone deficiency and characteristic facial features) ocurring in the absence of 15q11-q13 genomic abnormalities. + A rare group of multiple congenital anomalies/dysmorphic syndrome characterized by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogenous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity. UMLS:C3809877 PWS-like Prader-Willi-like syndrome @@ -155892,6 +156041,7 @@ + A rare Prader-Willi-like syndrome characterized by severe obesity due to SIM1 mutation, in addition to some clinical features of Prader-Willi- syndrome including intellectual disability, developmental delay, behaviour problems and facial dysmorphism. Unlike Prader-Willi syndrome, short stature, hypotonia and hypogonadism may not be observed. ICD-10:Q87.1 ICD10:Q87.1 UMLS:C5680040 @@ -156003,7 +156153,7 @@ MedDRA:10018651 OMIM:614395 UMLS:C0018133 - GVH + GvHD Graft versus host disease @@ -156144,6 +156294,7 @@ ICD10:Q82.8 ICD11:LD27.0Y OMIM:614974 + UMLS:C3554246 FFDD type IV FFDD4 Focal facial dermal dysplasia 4 @@ -156218,6 +156369,18 @@ + + + + + OBSOLETE: PPSPC + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary peritoneal carcinoma + OBSOLETE: Primary peritoneal serous/papillary carcinoma + true + + + + @@ -156412,6 +156575,7 @@ ICD-11:FB81 ICD11:FB81 + UMLS:C0027543 AVN Avascular necrosis @@ -156533,6 +156697,7 @@ ICD11:FB82.1 MESH:D055034 MeSH:D055034 + MedDRA:10031233 UMLS:C0029429 Osteochondrosis @@ -156550,6 +156715,8 @@ ICD-11:FB82.2 ICD10:M93.9 ICD11:FB82.2 + MESH:D060048 + MeSH:D060048 UMLS:C0158441 Epiphysiolysis of the upper femur Femoral head epiphysiolysis @@ -157171,7 +157338,7 @@ MeSH:D004443 MedDRA:10014096 UMLS:C4553297 - Hydatid cyct + Hydatid cyst Hydatid disease Hydatidosis Cystic echinococcosis @@ -157258,10 +157425,6 @@ - ICD-10:L40.5 - ICD-10:M07.3 - ICD10:L40.5 - ICD10:M07.3 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Psoriatic arthritis true @@ -157568,8 +157731,6 @@ - ICD-10:G82.1 - ICD10:G82.1 SPG68 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spastic paraplegia-optic atrophy-neuropathy syndrome Autosomal recessive spastic paraplegia type 68 @@ -158209,6 +158370,7 @@ ICD-11:EB90.1 ICD11:EB90.1 + MedDRA:10055046 Lichen myxedematosus @@ -158550,6 +158712,8 @@ ICD-11:5A72.0 ICD10:E26.0 ICD11:5A72.0 + MESH:C563177 + MeSH:C563177 OMIM:103900 UMLS:C3838731 Dexamethasone-sensitive hypertension @@ -158673,7 +158837,7 @@ - A rare multiple congenital anomalies syndrome characterized by tall stature due to postnatal overgrowth, mild to moderate intellectual disability and subtle distinctive facial features, which often become apparent during adolescence, such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors. Joint hypermobility, hypotonia and scoliosis are common. + A rare multiple congenital anomalies syndrome characterized by tall stature due to postnatal overgrowth, mild to moderate intellectual disability, joint hypermobility and subtle distinctive facial features, which often become apparent during adolescence (such as round face, low-set, thick horizontal eyebrows, narrow palpebral fissures and prominent upper-central incisors). Overweight, hypotonia, behavioral and psychiatric problems are common. Other clinical features may involve seizures, cryptorchidism and cardiovascular diseases (including congenital heart disease and aortic root dilatation). ICD-10:Q87.3 ICD-11:LD2C ICD10:Q87.3 @@ -159074,7 +159238,6 @@ - @@ -159092,8 +159255,11 @@ ICD10:M30.8 OMIM:615688 UMLS:C4749403 + DADA2 + Deficiency of adenosine deaminase 2 + Vasculitis due to ADA2 deficiency Vasculitis due to DADA2 - Vasculitis due to ADA2 deficiency + Adenosine deaminase 2 deficiency @@ -159237,7 +159403,7 @@ ICD-10:E78.0 ICD10:E78.0 - HeFH + NON RARE IN EUROPE: HeFH This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia true @@ -159349,7 +159515,7 @@ - A rare genodermatosis characterized by the presence of the mixture of hyperpigmented and hypopigmented macules of approximately 5mm in diameter, principally located on the extremities and limbs. + A rare genodermatosis characterized by the presence of the mixture of hyperpigmented and hypopigmented macules of approximately 5mm in diameter, principally located on the extremities. ICD-10:L81.8 ICD-11:EC23.Y ICD10:L81.8 @@ -159481,24 +159647,6 @@ - ICD-10:C43.0 - ICD-10:C43.1 - ICD-10:C43.2 - ICD-10:C43.3 - ICD-10:C43.4 - ICD-10:C43.5 - ICD-10:C43.6 - ICD-10:C43.7 - ICD-10:C43.8 - ICD10:C43.0 - ICD10:C43.1 - ICD10:C43.2 - ICD10:C43.3 - ICD10:C43.4 - ICD10:C43.5 - ICD10:C43.6 - ICD10:C43.7 - ICD10:C43.8 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Melanoma true @@ -159869,8 +160017,6 @@ - ICD-10:E88.8 - ICD10:E88.8 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Metabolic syndrome true @@ -160163,8 +160309,8 @@ ICD-10:E78.1 ICD10:E78.1 - Familial hypertriglyceridemia - HLP type 4 + NON RARE IN EUROPE: Familial hypertriglyceridemia + NON RARE IN EUROPE: HLP type 4 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Hyperlipoproteinemia type 4 true @@ -160191,6 +160337,8 @@ ICD-11:5C50.9 ICD10:E72.4 ICD11:5C50.9 + MESH:D015799 + MeSH:D015799 OMIM:258870 UMLS:C0018425 HOGA @@ -160251,16 +160399,6 @@ - ICD-10:C34.0 - ICD-10:C34.1 - ICD-10:C34.2 - ICD-10:C34.3 - ICD-10:C34.8 - ICD10:C34.0 - ICD10:C34.1 - ICD10:C34.2 - ICD10:C34.3 - ICD10:C34.8 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Adenocarcinoma of the lung true @@ -160290,9 +160428,7 @@ - ICD-10:H47.0 - ICD10:H47.0 - NAION + NON RARE IN EUROPE: NAION This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Non-arteritic anterior ischemic optic neuropathy true @@ -160304,7 +160440,7 @@ - Variola + OBSOLETE: Variola This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Human infection by orthopoxvirus OBSOLETE: Small pox true @@ -160316,11 +160452,7 @@ - ICD-10:R95.0 - ICD-10:R95.9 - ICD10:R95.0 - ICD10:R95.9 - SIDS + NON RARE IN EUROPE: SIDS This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Sudden infant death syndrome true @@ -160678,7 +160810,7 @@ - A form of glycogen storage disease due to acid maltase deficiency characterized by excessive accumulation of glycogen in lysosomes most notably in skeletal muscle, leading to slowly progressive muscle weakness with walking disability and reduced respiratory function. The late-onset form includes all cases in which hypertrophic cardiomyopathy did not manifest or was not diagnosed at or under the age of 1 year, as well as all cases with symptom onset above the age of 1 year. + A rare form of glycogen storage disease due to acid maltase deficiency characterized by excessive accumulation of glycogen in lysosomes most notably in skeletal muscle, leading to slowly progressive muscle weakness with walking disability and reduced respiratory function. The late-onset form includes all cases in which hypertrophic cardiomyopathy did not manifest or was not diagnosed at or under the age of 1 year, as well as all cases with symptom onset above the age of 1 year. ICD-10:E74.0 ICD-11:5C51.3 ICD10:E74.0 @@ -160750,6 +160882,9 @@ Visual snow syndrome is a rare neurologic disease characterized by persistent continuous bilateral visual experience of flickering snow-like dots throughout the visual field in association with other visual (including palinopsia, enhanced entopic phenomena, nyctalopia, photophobia and photopsia) and non-visual (migraine with or without aura, tinnitus and occasionally tremor) symptoms. ICD-10:H53.8 ICD10:H53.8 + MESH:C000726567 + MeSH:C000726567 + MedDRA:10079450 UMLS:C4324662 Visual snow syndrome @@ -160813,6 +160948,8 @@ + + @@ -161136,7 +161273,7 @@ - PHGDH deficiency + OBSOLETE: PHGDH deficiency This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form OBSOLETE: 3-Phosphoglycerate dehydrogenase deficiency true @@ -161273,6 +161410,7 @@ + @@ -161289,7 +161427,9 @@ ICD11:4B00.00 OMIM:616022 UMLS:C5190861 - Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency + SCN due to JAGN1 deficiency + Severe congenital neutropenia due to jagunal homolog 1 deficiency + Severe congenital neutropenia due to JAGN1 deficiency @@ -161393,7 +161533,8 @@ ICD10:E79.8 ICD11:LD90 UMLS:C4517296 - X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome + X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome + X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency @@ -161429,8 +161570,6 @@ - ICD-10:D35.0 - ICD10:D35.0 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Cortisol-producing adrenal tumor true @@ -161479,6 +161618,7 @@ ICD-11:1F68.2 ICD10:B76.9 ICD11:1F68.2 + MedDRA:10059547 UMLS:C0546999 Cutaneous larva migrans @@ -161514,7 +161654,7 @@ - Gastric carcinoma, salivary gland type + OBSOLETE: Gastric carcinoma, salivary gland type This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Carcinoma of esophagus, salivary gland type OBSOLETE: Carcinoma of stomach, salivary gland type true @@ -161639,6 +161779,8 @@ + MedDRA:10085940 + UMLS:C1336005 NET of the small intestine Neuroendocrine neoplasm of the small intestine Neuroendocrine tumor of small bowel @@ -161940,6 +162082,7 @@ ICD-11:2C10.0 ICD10:C25.3 ICD11:2C10.0 + MedDRA:10073365 UMLS:C1335304 IPMN Pancreatic intraductal papillary mucinous carcinoma @@ -162307,11 +162450,9 @@ - - @@ -162351,8 +162492,6 @@ - ICD-10:E78.6 - ICD10:E78.6 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Familial hypobetalipoproteinemia true @@ -162451,11 +162590,11 @@ + - @@ -162466,7 +162605,6 @@ ICD10:Q28.8 ICD11:LD2F.1Y MedDRA:10068032 - OMIM:140850 OMIM:606519 UMLS:C3698479 PHACES syndrome @@ -162689,7 +162827,7 @@ - Serotoninergic syndrome is characterised by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs). + A rare neurologic disease characterized by an excess of serotonin in the central nervous system, associated with the use of various agents, including selective serotonin reuptake inhibitors (SSRIs) and recreational stimulants. ICD-10:T43.1 ICD-11:8D85 ICD10:T43.1 @@ -162835,6 +162973,7 @@ A group of rare, genetic, neurodegenerative diseases characterized by an infancy- to childhood-onset of progressive spastic paraplegia (with delayed motor milestones, gait disturbances, hyperreflexia and extensor plantar responses), optic atrophy (which may be accompanied by nystagmus and visual loss) and progressive peripheral neuropathy (with sensory impairment and distal muscle weakness/atrophy in upper and lower extremities). Additional signs may include foot deformities, spinal defects (scoliosis, kyphosis), joint contractures, exaggerated startle response, speech disorders, hyperhidrosis, extrapyramidal signs and intellectual disability. In very rare cases, a variant phenotype with less prominent or absent optic atrophy and/or neuropathy may be observed. + UMLS:C5230629 SPOAN and SPOAN-related disorder Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder @@ -163182,9 +163321,9 @@ - HI syndrome - Hypomelanosis of Ito - Pigmentary mosaicism, Ito type + OBSOLETE: HI syndrome + OBSOLETE: Hypomelanosis of Ito + OBSOLETE: Pigmentary mosaicism, Ito type This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Hypopigmentation of the skin OBSOLETE: Ito hypomelanosis true @@ -163386,7 +163525,7 @@ - Congenital absence of toes + OBSOLETE: Congenital absence of toes This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic limb reduction defect OBSOLETE: Adactyly of foot true @@ -163517,9 +163656,9 @@ - + @@ -163540,7 +163679,7 @@ - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Aggrecan-related bone disorder + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Proteoglycan-related bone disorder OBSOLETE: ACAN-related skeletal dysplasia true @@ -163562,7 +163701,6 @@ A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of slowly progressive distal muscle weakness and atrophy, decreased deep tendon reflexes of lower limbs, and mild distal sensory loss leading to gait difficulties in most patients. ICD-10:G60.0 ICD10:G60.0 - OMIM:604484 UMLS:C5569028 CMT2 due to TFG mutation Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation @@ -163796,12 +163934,19 @@ + + + + + + A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by profound intellectual disability, hypotonia, coarse facial features, strabismus and impaired visual fixation, hypermobility of interphalangeal joints, contractures in the elbow joints, and pes planovalgus. Seizures and episodes of aggressive behavior during sleep have also been reported. ICD-10:Q87.8 ICD10:Q87.8 OMIM:618493 UMLS:C5681179 - Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome + Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome + HIDEA syndrome @@ -163821,7 +163966,6 @@ A rare genetic endocrine disease characterized by intrauterine growth restriction, failure of an adolescent growth spurt with proportional adult short stature, insulin resistance, and early adulthood-onset diabetes. Minimal subluxation of the fifth metacarpal-phalangeal joint has been reported, while metaphyseal dysplasia is absent. Testicular volume is low, but fertility is normal. There is no evidence of primary adrenal insufficiency. ICD-10:Q87.1 ICD10:Q87.1 - OMIM:614732 UMLS:C5681180 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome @@ -163856,10 +164000,11 @@ - + + @@ -164171,8 +164316,8 @@ - MYH7-related late-onset SPMD - MYH7-related late-onset scapuloperoneal syndrome + OBSOLETE: MYH7-related late-onset SPMD + OBSOLETE: MYH7-related late-onset scapuloperoneal syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autosomal dominant myosin storage myopathy OBSOLETE: MYH7-related late-onset scapuloperoneal muscular dystrophy true @@ -164292,12 +164437,13 @@ + - + @@ -164837,6 +164983,8 @@ A rare glycogen storage disease characterized by fetal or neonatal onset of severe cardiomyopathy with non-lysosomal glycogen accumulation and fatal outcome in infancy. Patients present with massive cardiomegaly, severe cardiac and respiratory complications, and failure to thrive. Non-specific facial dysmorphism, bilateral cataracts, macroglossia, hydrocephalus, enlarged kidneys, and skeletal muscle involvement have been reported in some cases. + ICD-10:E74.0 + ICD10:E74.0 MESH:C564888 MeSH:C564888 OMIM:261740 @@ -165092,6 +165240,7 @@ A rare infectious disease characterized by painful, rapidly progressive infection of deep soft tissue structures. Infections can be mono- or polymicrobial and involve gram-positive cocci, enteric gram-negative bacilli, anaerobes, among others. Fungal infections have also been described in rare cases. Physical examination findings are often subtle and may include erythema, bullae, induration of subcutaneous tissues, and tenderness to palpation. ICD-10:M72.6 ICD10:M72.6 + MedDRA:10076637 UMLS:C2732890 NSTI Necrotizing soft tissue infection @@ -165357,6 +165506,7 @@ + @@ -165389,6 +165539,7 @@ ICD11:LB20.10 MESH:C562564 MeSH:C562564 + MedDRA:10079018 UMLS:C0266251 Isolated agenesis of gallbladder @@ -165683,6 +165834,12 @@ + + + + + + @@ -165827,12 +165984,6 @@ - - - - - - @@ -166136,6 +166287,7 @@ MedDRA:10077216 + UMLS:C1864903 Hyperinsulinemic hypoglycaemia @@ -166291,17 +166443,16 @@ - - + - A rare disorder of porphyrin and heme metabolism characterized by infantile or childhood onset of severe cutaneous photosensitivity in affected males, presenting as tingling, burning, and itching within minutes of light exposure, often accompanied by swelling and redness of the skin. Pain may persist for hours or days after the initial reaction. Some patients show hepatic involvement and gallstone formation. Laboratory examination reveals increased levels of zinc- and metal-free protoporphyrin. The phenotype in heterozygous females ranges from asymptomatic to severe. + A rare disorder of heme metabolism characterized by severe cutaneous photosensitivity in affected boys and sometimes in girls, manifesting in childhood. ICD-10:E80.0 ICD10:E80.0 MESH:C567464 @@ -166336,6 +166487,7 @@ ICD11:1A08 MESH:D010284 MeSH:D010284 + MedDRA:10033971 UMLS:C0030528 Paratyphoid fever @@ -166515,6 +166667,7 @@ ICD10:G25.8 MedDRA:10079359 OMIM:184850 + UMLS:C4324606 Focal stiff-person syndrome Stiff leg syndrome Focal stiff limb syndrome @@ -166849,7 +167002,6 @@ - @@ -167023,12 +167175,11 @@ ICD10:D89.8 OMIM:619220 UMLS:C5543159 + Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II Evans syndrome associated with primary immunodeficiency - TPPII deficiency TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease TRIANGLE disease - Tripeptidyl-peptidase II deficiency - Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome + Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency @@ -167113,6 +167264,7 @@ + @@ -167132,9 +167284,10 @@ OMIM:616271 OMIM:619835 UMLS:C4225393 - 3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome + 3-methylglutaconic aciduria type 7 + MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome MGA7 - 3-methylglutaconic aciduria type 7 + 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome @@ -167306,7 +167459,7 @@ ICD11:4A01.1Y OMIM:616433 UMLS:C4225328 - CID due to DOCK 2 deficiency + CID due to DOCK2 deficiency Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency Combined immunodeficiency due to DOCK2 deficiency @@ -167316,9 +167469,9 @@ - + @@ -167798,14 +167951,14 @@ ICD-10:Q92.3 ICD10:Q92.3 UMLS:C5679996 - Dup(19)(p13.13) - dup(19)(p13.13) + Dup(19)(p13.3) + dup(19)(p13.3) 19p13.3 microduplication syndrome - dup(19)(p13.13) + dup(19)(p13.3) @@ -167816,6 +167969,7 @@ + UMLS:C4518508 Partial duplication of chromosome 19p Partial trisomy of chromosome 19p Partial trisomy of the short arm of chromosome 19 @@ -167905,6 +168059,7 @@ ICD11:1D48 MESH:D000071243 MeSH:D000071243 + MedDRA:10078205 UMLS:C0276289 Zika virus infection Zika virus disease @@ -168038,8 +168193,8 @@ - Familial infantile gigantism due to a point mutation - X-LAG (X-linked acrogigantism) due to a point mutation + OBSOLETE: Familial infantile gigantism due to a point mutation + OBSOLETE: X-LAG (X-linked acrogigantism) due to a point mutation This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using X-linked acrogigantism OBSOLETE: X-linked acrogigantism due to a point mutation true @@ -168051,11 +168206,11 @@ - Familial infantile gigantism due to Xq26 microduplication - Familial infantile gigantism due to dup(X)q(26) - X-LAG due to dup(X)q(26) - familial infantile gigantism due to dup(x)q(26) - x-lag due to dup(x)q(26) + OBSOLETE: Familial infantile gigantism due to Xq26 microduplication + OBSOLETE: Familial infantile gigantism due to dup(X)q(26) + OBSOLETE: X-LAG due to dup(X)q(26) + obsolete: familial infantile gigantism due to dup(x)q(26) + obsolete: x-lag due to dup(x)q(26) This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using X-linked acrogigantism OBSOLETE: X-linked acrogigantism due to Xq26 microduplication true @@ -168063,13 +168218,13 @@ - familial infantile gigantism due to dup(x)q(26) + obsolete: familial infantile gigantism due to dup(x)q(26) - x-lag due to dup(x)q(26) + obsolete: x-lag due to dup(x)q(26) @@ -168162,8 +168317,6 @@ - ICD-10:K90.8 - ICD10:K90.8 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Primary bile acid malabsorption true @@ -168295,6 +168448,7 @@ ICD-11:4A43.0 ICD10:G03.9 ICD11:4A43.0 + UMLS:C4545992 Idiopathic hypertrophic pachymeningitis IgG4-related pachymeningitis @@ -168537,7 +168691,6 @@ - OMIM:601675 UMLS:C1866505 Tay syndrome Trichothiodystrophy type E @@ -168564,6 +168717,8 @@ OMIM:616580 UMLS:C4225274 Au-Kline syndrome + HNRNPK-related neurodevelopmental disorder + Okamoto syndrome Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome @@ -168757,6 +168912,7 @@ ICD11:ED50.0 MESH:C538175 MeSH:C538175 + MedDRA:10021199 UMLS:C0263386 Acquired ichthyosis @@ -168851,6 +169007,7 @@ ICD-11:8B60.3 ICD10:G12.2 ICD11:8B60.3 + MedDRA:10036808 UMLS:C0917981 PMA Progressive muscular atrophy @@ -168909,6 +169066,7 @@ ICD11:9B01.1 MESH:D000270 MeSH:D000270 + MedDRA:10020352 OMIM:103100 UMLS:C0001519 Adie syndrome @@ -168967,6 +169125,7 @@ ICD11:8E01.1 MESH:D007729 MeSH:D007729 + MedDRA:10023497 OMIM:245300 UMLS:C0022802 Kuru @@ -169008,6 +169167,7 @@ MESH:C563250 MeSH:C563250 OMIM:181030 + UMLS:C1519176 Pleomorphic salivary gland adenoma @@ -169066,6 +169226,7 @@ ICD-10:D12.6 ICD10:D12.6 OMIM:616415 + UMLS:C4225157 NTHL1-related AFAP NTHL1-related attenuated FAP NTHL1-related attenuated familial adenomatous polyposis @@ -169258,7 +169419,11 @@ ICD-10:C17.9 ICD10:C17.9 UMLS:C5679993 + Hereditary SB-NET + Hereditary SI-NET Hereditary neuroendocrine tumor of small bowel + Small bowel hereditary neuroendocrine tumor + Small intestine hereditary neuroendocrine tumor Hereditary neuroendocrine tumor of small intestine @@ -169654,8 +169819,6 @@ - ICD-10:C06.9 - ICD10:C06.9 OTSCC Oral tongue squamous cell carcinoma This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Squamous cell carcinoma of the oral cavity @@ -169966,8 +170129,6 @@ - ICD-10:F80.0 - ICD10:F80.0 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Specific language impairment true @@ -169995,9 +170156,9 @@ - + A rare vascular tumor characterized by a poorly circumscribed, infiltrative nodular lesion with vascular differentiation, centered in the dermis and subcutis. The tumor is composed of histologically benign, intermediate, and malignant components. Typical is an admixture of different components which include epithelioid and retiform hemangioendothelioma, spindle cell hemangioma, angiosarcoma-like areas, and benign vascular lesions. Predilection sites are the distal extremities. Many patients have a history of lymphedema. Local recurrence is frequent, while metastasis is rare. ICD-10:D48.1 ICD10:D48.1 @@ -170010,9 +170171,9 @@ - + A rare vascular tumor characterized by a slowly growing lesion with predominant involvement of the skin and subcutaneous tissue of the distal extremities. Distinctive arborizing blood vessels lined by endothelial cells with characteristic hobnail morphology are a typical feature. Local recurrences are frequent unless wide local excision is performed, while metastasis is rare. ICD-10:D48.1 ICD10:D48.1 @@ -170025,15 +170186,17 @@ - + A rare vascular tumor characterized by an ill-defined, slowly growing, asymptomatic cutaneous plaque or nodule mostly involving the limbs, in fewer cases the trunk. The tumor is composed of lymphatic-like channels with prominent intraluminal papillary tufts with hyaline cores lined by hobnail endothelial cells. It is locally aggressive, while metastasis is rare. Infants and children are much more often affected than adults. ICD-10:D48.1 ICD10:D48.1 UMLS:C0346087 Dabska tumor - Primary intralymphatic angioendothelioma + PILA + Primary intralymphatic angioendothelioma + Papillary intralymphatic angioendothelioma @@ -170041,8 +170204,8 @@ - + UMLS:C0235753 Congenital hemangioma @@ -170132,10 +170295,10 @@ - - - UMLS:C5681119 - Vascular tumor with associated anomalies + + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare vascular tumor + OBSOLETE: Vascular tumor with associated anomalies + true @@ -170559,12 +170722,6 @@ - - - - - - A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin. The condition is rather mild. ICD-10:Q80.1 ICD-11:EC20.01 @@ -170572,7 +170729,6 @@ ICD11:EC20.01 MESH:D016114 MeSH:D016114 - OMIM:300001 OMIM:308100 UMLS:C2720163 RXLI @@ -170624,8 +170780,6 @@ - ICD-10:D35.0 - ICD10:D35.0 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Adrenal incidentaloma true @@ -170752,8 +170906,6 @@ - ICD-10:D18.0 - ICD10:D18.0 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Infantile capillary hemangioma true @@ -170807,12 +170959,14 @@ - + A rare vascular anomaly characterized by congenital, solitary or grouped, red-to-purple plaques which may bleed and enlarge over time. The lesions show a predilection for the lower extremities. Histological examination reveals numerous dilated, congested capillaries and venules in the papillary dermis, often with a deep dermal component, and with increased density of variably congested capillaries and venules also in the subcutaneous tissue. The overlying epidermis displays prominent acanthosis, papillomatosis, hyperkeratosis, parakeratosis, and crusting. ICD-10:D18.0 + ICD-11:LC52 ICD10:D18.0 + ICD11:LC52 UMLS:C0334540 Verrucous hemangioma @@ -170841,7 +170995,7 @@ - + A rare vascular anomaly or angioma characterized by multifocal malformed lymphatic channels lined by clusters or sheets of spindled lymphatic endothelial cells with a predilection for the thoracic cavity, but also involving extra-thoracic locations, especially bones and spleen. Typical clinical signs and symptoms are pericardial and pleural effusions, cough, dyspnea, bleeding, and fractures secondary to bone involvement. Prognosis is generally poor due to the progressive nature of the condition. @@ -170944,7 +171098,9 @@ A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also been reported. ICD-10:P61.5 + ICD-11:KA8E ICD10:P61.5 + ICD11:KA8E UMLS:C0272176 Neonatal alloimmune neutropenia @@ -171041,23 +171197,7 @@ - ICD-10:C16.0 - ICD-10:C16.1 - ICD-10:C16.2 - ICD-10:C16.3 - ICD-10:C16.4 - ICD-10:C16.5 - ICD-10:C16.6 - ICD-10:C16.8 - ICD10:C16.0 - ICD10:C16.1 - ICD10:C16.2 - ICD10:C16.3 - ICD10:C16.4 - ICD10:C16.5 - ICD10:C16.6 - ICD10:C16.8 - Gastric adenocarcinoma + NON RARE IN EUROPE: Gastric adenocarcinoma This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Adenocarcinoma of stomach true @@ -171278,7 +171418,7 @@ - BSLE + OBSOLETE: BSLE This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare cutaneous lupus erythematosus OBSOLETE: Bullous systemic lupus erythematosus true @@ -171516,8 +171656,6 @@ - ICD-10:Q87.1 - ICD10:Q87.1 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Microcephalic osteodysplastic primordial dwarfism type II Primordial short stature-microdontia-opalescent and rootless teeth syndrome true @@ -171558,8 +171696,6 @@ - ICD-10:C18.0 - ICD10:C18.0 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Colorectal cancer true @@ -171785,7 +171921,7 @@ - Gillessen-Kaesbach-Nishimura syndrome + OBSOLETE: Gillessen-Kaesbach-Nishimura syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using ALG9-CDG OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome true @@ -172034,6 +172170,7 @@ ICD10:Q87.0 OMIM:616708 UMLS:C5568862 + DESSH Desanto-Shinawi syndrome WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome @@ -172455,6 +172592,7 @@ ICD10:Q77.3 ICD11:LD24.04 OMIM:616716 + UMLS:C4225237 Rhizomelic chondrodysplasia punctata type 5 @@ -172551,6 +172689,7 @@ + @@ -172558,7 +172697,7 @@ - Lysinuric protein intolerance (LPI) is a very rare inherited multisystem condition caused by distrubance in amino acid metabolism. + A rare disorder of amino acid absorption and transport characterized by a secondary urea cycle disorder with failure to thrive, hepatosplenomegaly, and a wide range of clinical manifestations including hematological (macrophagic activation syndrome or hemophagocytic lymphohistiocytosis, HLH), immune, digestive, renal, pulmonary and/or bones involvement. ICD-10:E72.0 ICD-11:5C60.Y ICD10:E72.0 @@ -172587,7 +172726,7 @@ - Hereditary papillary renal cell carcinoma (HPRCC) is a familial renal cancer syndrome characterised by a predisposition for developing bilateral and multifocal type 1 papillary renal carcinomas. + A rare familial renal cancer syndrome characterized by a predisposition for developing bilateral and multifocal classic type papillary renal cell carcinomas (formerly known as type 1 papillary renal cell carcinoma until the 2022 WHO classification of renal tumors). ICD-10:C64 ICD-11:2C90.Y ICD10:C64 @@ -172597,7 +172736,7 @@ MedDRA:10067943 OMIM:605074 UMLS:C0879257 - HPRCC + HPRC Hereditary papillary renal cell carcinoma @@ -172617,7 +172756,7 @@ Familial cold urticaria (FCAS) is the mildest form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent episodes of urticaria-like skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. ICD-10:L50.2 - ICD-11:4A60.1  + ICD-11:4A60.1 ICD10:L50.2 ICD11:4A60.1 MedDRA:10064570 @@ -173126,38 +173265,12 @@ - - - - - - - - - - - - - - - - - - - - - - - - A rare autosomal dominant autoinflammatory syndrome characterized by early onset systemic inflammation with autoimmune manifestations and more rarely, humoral immune deficiency and increased production of circulating proinflammatory cytokines, variably manifesting with recurrent oral aphthous ulcers, genital ulcers, arthralgia or arthritis, periodic fever, uveitis, and severe gastrointestinal involvement (pain, diarrhea, vomiting, rectal bleeding). - ICD-10:D89.8 - ICD10:D89.8 - OMIM:301074 - OMIM:616744 - UMLS:C5568804 - Behçet-like disease due to HA20 - Behçet-like disease due to haploinsufficiency of A20 - Hereditary pediatric Behçet-like disease + + OBSOLETE: Behçet-like disease due to HA20 + OBSOLETE: Behçet-like disease due to haploinsufficiency of A20 + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Unclassified autoinflammatory syndrome + OBSOLETE: Hereditary pediatric Behçet-like disease + true @@ -173391,7 +173504,6 @@ UMLS:C0265336 Ichthyosis hystrix Rheydt type KID/HID syndrome - KIDAR Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome Senter syndrome @@ -173515,7 +173627,7 @@ - Familial platelet disorder with predisposition to hematological cancer + OBSOLETE: Familial platelet disorder with predisposition to hematological cancer This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial platelet disorder with associated myeloid malignancy OBSOLETE: Hereditary thrombocytopenia-hematological cancer predisposition syndrome true @@ -173529,7 +173641,7 @@ - Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on intial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported. + Pediatric multiple sclerosis (MS) is a rare multiple sclerosis variant characterized by the onset of multiple sclerosis (i.e. one or multiple episodes of clinical CNS symptoms consistent with acquired CNS demyelination, with radiologically proven dissemination of inflammatory lesions in space and time, following exclusion of other disorders) before the age of 18 years old. Pediatric MS patients present a predominantly relapsing-remitting course with first attack usually consisting of optic neuritis, transverse myelitis, acute disseminated encephalomyelitis and monofocal or polyfocal neurological deficits. A high burden of T2-hyperintense lesions on initial MRI, primarily of the supratentorial region and/or of the cervical spinal cord, has been reported. ICD-10:G35 ICD10:G35 UMLS:C5568571 @@ -173547,7 +173659,9 @@ A rare soft tissue tumor characterized by a solitary mass-forming fibrous proliferation that usually occurs in the subcutaneous tissue, composed of uniform fibroblastic/myofibroblastic cells displaying a loose growth pattern. Upper extremities, trunk, and head and neck are most frequently affected. The lesion typically grows rapidly and almost always measures less than five centimeters in diameter. Macroscopically, it may appear circumscribed or infiltrative but is not encapsulated. Recurrence after excision is very rare, and metastasis does not occur. ICD-10:M79.8 + ICD-11:FB51.2 ICD10:M79.8 + ICD11:FB51.2 MedDRA:10065988 UMLS:C0410005 Pseudosarcomatous fasciitis @@ -173610,8 +173724,8 @@ UMLS:C5680105 - COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendancy - COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy + COL4A1 or COL4A2-related cerebral angiopathy with ischemic tendency + COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency @@ -173622,8 +173736,8 @@ UMLS:C5680104 - COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendancy - COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy + COL4A1 or COL4A2-related cerebral angiopathy with hemorrhagic tendency + COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency @@ -174265,6 +174379,7 @@ ICD10:K76.8 ICD11:5C58.03 OMIM:617049 + UMLS:C4310747 NR1H4 deficiency PFIC5 Progressive familial intrahepatic cholestasis type 5 @@ -174286,6 +174401,7 @@ ICD-10:K76.8 ICD10:K76.8 OMIM:615878 + UMLS:C2931067 PFIC4 TJP2 deficit Progressive familial intrahepatic cholestasis type 4 @@ -174466,6 +174582,7 @@ ICD10:D12.6 ICD11:2B90.Y OMIM:617100 + UMLS:C4310719 MSH3-related AFAP MSH3-related attenuated FAP MSH3-related attenuated familial polyposis coli @@ -174517,6 +174634,7 @@ ICD11:XH23E0 MESH:D017824 MeSH:D017824 + MedDRA:10002362 UMLS:C0152244 Aneurysmal bone cyst @@ -174771,7 +174889,7 @@ - Pyoderma gangrenosum (PG) is a primarily sterile inflammatory neutrophilic dermatosis characterized by recurrent cutaneous ulcerations with a mucopurulent or hemorrhagic exudate. + A rare inflammatory neutrophilic dermatosis characterized by painful cutaneous ulcerations with a violaceous and undermined border affecting the lower extremities; however, any hair-bearing area can be affected. ICD-10:L88 ICD-11:EB21 ICD10:L88 @@ -174813,7 +174931,7 @@ - GNET type 1 + OBSOLETE: GNET type 1 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuroendocrine tumor of stomach OBSOLETE: Gastric neuroendocrine tumor type 1 true @@ -174825,7 +174943,7 @@ - GNET type 2 + OBSOLETE: GNET type 2 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuroendocrine tumor of stomach OBSOLETE: Gastric neuroendocrine tumor type 2 true @@ -174837,7 +174955,7 @@ - GNET type 3 + OBSOLETE: GNET type 3 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuroendocrine tumor of stomach OBSOLETE: Gastric neuroendocrine tumor type 3 true @@ -174849,7 +174967,7 @@ - GNET type 4 + OBSOLETE: GNET type 4 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuroendocrine tumor of stomach OBSOLETE: Gastric neuroendocrine tumor type 4 true @@ -174873,7 +174991,7 @@ - Lewis-Sumner syndrome (LSS) is a rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy. + A rare acquired demyelinating polyneuropathy characterized by asymmetrical distal weakness of the upper or lower extremities and motor dysfunction with adult onset. It is considered to be a variant of chronic inflammatory demyelinating polyneuropathy. ICD-10:G61.8 ICD-11:8C01.3 ICD10:G61.8 @@ -175108,6 +175226,8 @@ A rare genetic disease characterized by congenital contractures of the distal interphalangeal joints, progressive stiffness of the shoulders and neck, keloid scarring, increased optic cup-to-disc ratio, and renal stones. Additional reported features include arthritis, osteoporosis, hypoplastic flexion creases, clinodactyly, anxiety, and facial dysmorphism (such as sloping forehead, prominent supraorbital ridges, downslanting palpebral fissures, prominent ears, and high arched palate). Female carriers exhibit a variable, milder phenotype. + ICD-10:Q87.5 + ICD10:Q87.5 UMLS:C5567520 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome @@ -175182,7 +175302,7 @@ ICD-10:Q98.0 ICD10:Q98.0 - 47,XXY syndrome + NON RARE IN EUROPE: 47,XXY syndrome This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Klinefelter syndrome true @@ -175250,8 +175370,6 @@ The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterised by simplification or absence of folding) associated with abnormal organisation of the cortical layers as a result of neuronal migration defects during embryogenesis. - ICD-11:LD20.1 - ICD11:LD20.1 MESH:D054082 MeSH:D054082 MedDRA:10048911 @@ -175358,7 +175476,7 @@ UMLS:C5681245 - Genetic premature ovarian failure + Rare genetic premature ovarian failure @@ -175426,6 +175544,7 @@ ICD10:E88.8 ICD11:5C5Y OMIM:617086 + UMLS:C4310726 Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect @@ -175443,6 +175562,8 @@ A rare parenchymal liver disease characterized by progressive fibrosis of the portal tracts due to arrest of maturation of the ductal plate of the intrahepatic bile ducts. Clinically, it may manifest as a portal hypertensive, cholangitic, mixed, or latent form. Onset of symptoms is mostly in adolescence or young adulthood. Hepatocellular function is relatively well preserved. ICD-10:Q44.6 ICD10:Q44.6 + MESH:C562378 + MeSH:C562378 UMLS:C5680096 Isolated CHF Isolated congenital hepatic fibrosis @@ -175480,12 +175601,6 @@ - - - - - - @@ -175512,7 +175627,6 @@ OMIM:202700 OMIM:257100 OMIM:613107 - OMIM:618752 OMIM:619813 UMLS:C4749612 Autosomal dominant severe congenital neutropenia @@ -175524,7 +175638,6 @@ - @@ -175539,9 +175652,7 @@ MedDRA:10082417 OMIM:606232 UMLS:C1853490 - 22q13.3 deletion - Phelan-McDermid syndrome - Monosomy 22q13.3 + Phelan-McDermid syndrome @@ -175676,6 +175787,7 @@ ICD-10:C71.9 ICD10:C71.9 + UMLS:C1333377 Embryonal carcinoma of the CNS Embryonal carcinoma of the central nervous system @@ -175702,8 +175814,8 @@ ICD10:Q87.8 OMIM:616737 UMLS:C4225222 - Takenouchi-Kosaki syndrome - Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome + Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome + Takenouchi-Kosaki syndrome @@ -175923,17 +176035,7 @@ - ICD-10:C34.0 - ICD-10:C34.1 - ICD-10:C34.2 - ICD-10:C34.3 - ICD-10:C34.8 - ICD10:C34.0 - ICD10:C34.1 - ICD10:C34.2 - ICD10:C34.3 - ICD10:C34.8 - NSCLC + NON RARE IN EUROPE: NSCLC This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Non-small cell lung cancer true @@ -175993,9 +176095,9 @@ - + @@ -176005,6 +176107,8 @@ Osteofibrous dysplasia is a rare, genetic primary bone dysplasia characterized by the presence of a benign, fibro-osseous, osteolytic tumor typically located in the tibia (occasionally the fibula, or both) and usually involving the anterior diaphyseal cortex with adjacent cortical expansion. It may on occasion be asymptomatic or may present with a palpable mass, pain, tenderness and/or anterior bowing of the tibia. ICD-10:M85.0 ICD10:M85.0 + MESH:C563276 + MeSH:C563276 OMIM:607278 UMLS:C4085248 OFD @@ -176341,9 +176445,7 @@ - ICD-10:Q89.2 - ICD10:Q89.2 - Thyroglossal tract cyst + NON RARE IN EUROPE: Thyroglossal tract cyst This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Thyroglossal duct cyst true @@ -176362,6 +176464,7 @@ ICD-11:4A41.Y ICD10:M60.8 ICD11:4A41.Y + MedDRA:10081943 UMLS:C0751357 Focal nodular myositis Inflammatory pseudotumor of skeletal muscle @@ -176517,6 +176620,7 @@ ICD11:EB01.Y MESH:D000094482 MeSH:D000094482 + MedDRA:10052571 OMIM:125630 UMLS:C0157743 Vibratory angioedema/urticaria @@ -176661,8 +176765,6 @@ - ICD-10:K76.8 - ICD10:K76.8 OMIM:617068 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Portosinusoidal vascular disease Early-onset familial noncirrhotic portal hypertension @@ -176832,6 +176934,7 @@ ICD10:C51.8 ICD11:2C70.2 MedDRA:10041875 + UMLS:C0280856 Squamous cell carcinoma of the vulva Vulvar squamous cell carcinoma @@ -176849,6 +176952,7 @@ ICD10:C51.8 ICD11:2C70.0 MedDRA:10082639 + UMLS:C1336977 Basal cell carcinoma of vulva Vulvar basal cell carcinoma @@ -177125,6 +177229,12 @@ + + + + + + A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, absent scrotum or labia majora, absent or underdeveloped nipples and a tuft of hair extruding from the lactiferous ducts, bilateral corneal opacities, and dysmorphic craniofacial features (microcephaly, short forehead, and ear abnormalities, among others). Patients also show horizontal nystagmus and ataxic gait. Brain MRI reveals small cerebellar hemispheres and vermis and a small pons. ICD-10:Q87.8 ICD10:Q87.8 @@ -177174,9 +177284,6 @@ - ICD-10:Q82.8 - ICD10:Q82.8 - OMIM:600962 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Epidermolytic palmoplantar keratoderma Thost-Unna palmoplantar keratoderma true @@ -177520,6 +177627,7 @@ ICD-11:ED56 ICD11:ED56 + MedDRA:10083835 Keratosis pilaris atrophicans @@ -177709,7 +177817,7 @@ UMLS:C5681232 - Longitudinal limb defect + Non-syndromic longitudinal limb defect @@ -177720,7 +177828,7 @@ UMLS:C5681231 - Terminal transverse limb defect + Non-syndromic terminal transverse limb defect @@ -177851,7 +177959,7 @@ UMLS:C5681243 - Complete hemimelia + Non-syndromic complete hemimelia @@ -178018,16 +178126,14 @@ - - - + + A rare inflammatory optic neuropathy characterized by severe and persistent pain followed by subacute visual loss, a relapsing-remitting course, and steroid-dependence. Involvement of both optic nerves is common and is usually sequential. Serum antibodies against aquaporin 4 are absent in most cases. Magnetic resonance imaging shows contrast enhancement of the acutely inflamed optic nerves. ICD-10:H46 ICD10:H46 UMLS:C5567234 CRION - Chronic recurrent isolated optic neuritis - Chronic relapsing inflammatory optic neuropathy + Chronic relapsing inflammatory optic neuritis @@ -178417,12 +178523,6 @@ - - - - - - A rare genetic neurodevelopmental syndrome characterized by mild intellectual disability, developmental delay, dysmorphic facial features, growth- and feeding problems, hypotonia, epilepsy, behavioral problems and a variety of congenital abnormalities. ICD-10:Q87.8 ICD10:Q87.8 @@ -178456,7 +178556,7 @@ ICD10:Q87.8 OMIM:613406 UMLS:C5681223 - SIN3A-related intellectual disability syndrome due to a point mutation + SIN3-related intellectual disability syndrome due to a point mutation @@ -178600,6 +178700,7 @@ ICD10:C07 ICD10:C08.8 OMIM:275355 + UMLS:C0279697 Squamous cell carcinoma of salivary glands @@ -178824,6 +178925,7 @@ ICD-11:2B60.1 ICD10:C00.1 ICD11:2B60.1 + MedDRA:10064055 OMIM:275355 UMLS:C0280302 Squamous cell carcinoma of the lip @@ -178836,6 +178938,7 @@ + UMLS:C0280297 Squamous cell carcinoma of oral cavity and lip @@ -179078,6 +179181,8 @@ A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy. ICD-10:G11.2 ICD10:G11.2 + MESH:C000726747 + MeSH:C000726747 MedDRA:10078216 OMIM:614575 UMLS:C3281223 @@ -179379,7 +179484,9 @@ A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions. + ICD-10:G31.8 ICD-11:5C53.24 + ICD10:G31.8 ICD11:5C53.24 MESH:D007888 MeSH:D007888 @@ -179401,6 +179508,7 @@ ICD-11:2C10.1 ICD11:2C10.1 + UMLS:C4305467 PNEN Pancreatic NEN Pancreatic neuroendocrine neoplasm @@ -179414,6 +179522,7 @@ + UMLS:C1708107 Functioning PNET Functioning pancreatic NET Functioning pancreatic neuroendocrine tumor @@ -179512,7 +179621,7 @@ - NET of small intestine + OBSOLETE: NET of small intestine This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Neuroendocrine tumor of the small intestine OBSOLETE: Neuroendocrine tumor of small intestine true @@ -179529,7 +179638,9 @@ A group of esophageal epithelial neoplasms characterized by neuroendocrine differentiation, comprising well-differentiated neuroendocrine tumors (NETs), poorly differentiated neuroendocrine carcinomas (NECs), and mixed neuroendocrine-non-neuroendocrine neoplasms, an umbrella category including mixed adenoneuroendocrine carcinoma. The tumors typically occur in the lower esophagus, often in association with Barrett mucosa. NECs may also arise in other parts of the esophagus. On endoscopy, NETs usually appear as small polypoid or nodular submucosal masses, while NECs are large, infiltrative, and ulcerated. Patients most commonly present with dysphagia, pain, weight loss, and sometimes melena. Metastatic NETs may be associated with carcinoid syndrome. ICD-10:C15.8 + ICD-11:2B70.Y ICD10:C15.8 + ICD11:2B70.Y UMLS:C1333462 Esophageal NEN Esophageal neuroendocrine neoplasm @@ -179737,6 +179848,7 @@ ICD-11:EB13.2 ICD10:L51.2 ICD11:EB13.2 + UMLS:C3661878 SJS/TEN overlap syndrome Stevens-Johnson/TEN overlap syndrome Stevens-Johnson/toxic epidermal necrolysis overlap syndrome @@ -179914,7 +180026,7 @@ - Zellweger-like syndrome without peroxisomal anomalies is an extremely rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome (see this term), such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive. + A rare mitochondrial disorder characterized by facial dysmorphism similar to that seen in Zellweger syndrome (see this term), such as frontal bossing, high forehead, upslanting palpebral fissures, hypoplastic supraorbital ridges, and epicanthal folds, and in addition, pale skin, profound hypotonia, developmental delay, and minor metabolic anomalies. No peroxysomal defects, however, have been reported. Transmission is thought to be autosomal recessive. ICD-10:Q87.8 ICD-11:5C53.2Y ICD10:Q87.8 @@ -179984,9 +180096,6 @@ - ICD-10:Q77.7 - ICD10:Q77.7 - OMIM:607944 UMLS:C1842763 Roifman-Melamed syndrome SPENCDI @@ -180196,6 +180305,8 @@ A rare genetic disease characterized by the presence of multiple café-au-lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre- and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy, and symptomatic gastro-esophageal reflux have also been described, while malar rash is typically absent. + ICD-10:Q87.1 + ICD10:Q87.1 OMIM:618097 UMLS:C5567901 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome @@ -180342,6 +180453,7 @@ ICD11:4B2Y MESH:D020042 MeSH:D020042 + MedDRA:10069070 UMLS:C0398367 Histiocytic necrotizing lymphadenitis Kikuchi disease @@ -180354,7 +180466,7 @@ - Mammary polyadenomatosis + OBSOLETE: Mammary polyadenomatosis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare benign breast tumor OBSOLETE: Multiple fibroadenoma of the breast true @@ -180497,7 +180609,6 @@ - @@ -180559,7 +180670,7 @@ - An inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis. + A rare inherited subacute encephalopathy characterized by the variable association of basal ganglia calcification, leukodystrophy, cerebrospinal fluid (CSF) lymphocytosis and evidence of enhanced type I interferon signaling in blood and CSF. ICD-10:G31.8 ICD-11:5C55.2 ICD10:G31.8 @@ -180818,6 +180929,7 @@ MESH:D054066 MeSH:D054066 + UMLS:C1522378 Large granular lymphocyte leukemia @@ -181057,9 +181169,9 @@ A rare genetic vascular disease characterized by early onset (between in utero to infancy) of extensive calcification and stenosis of the large and medium sized arteries. Presentation is typically with respiratory distress, congestive heart failure and systemic hypertension. ICD-10:Q28.8 - ICD-11:BD52.Y + ICD-11:BD52 ICD10:Q28.8 - ICD11:BD52.Y + ICD11:BD52 MESH:C537440 MeSH:C537440 OMIM:208000 @@ -181077,8 +181189,7 @@ - - + @@ -181281,6 +181392,7 @@ MedDRA:10076672 + UMLS:C3898765 Infective keratitis @@ -182200,7 +182312,6 @@ Chronic myeloid leukaemia (CML) is the most common myeloproliferative disorder accounting for 15-20% of all leukaemia cases. ICD-10:C92.1 ICD-11:2B33.2 - ICD-11:2B33.2  ICD-11:XH4XG8 ICD10:C92.1 ICD11:2B33.2 @@ -182336,7 +182447,7 @@ - SLC5A6-related congenital disorder of glycosylation + OBSOLETE: SLC5A6-related congenital disorder of glycosylation This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Disorder of other vitamins and cofactors metabolism and transport OBSOLETE: SLC5A6-CDG true @@ -182412,8 +182523,6 @@ - ICD-10:E66.0 - ICD10:E66.0 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Non rare obesity true @@ -182632,8 +182741,6 @@ - ICD-10:Q02 - ICD10:Q02 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal recessive primary microcephaly Premature chromosome condensation with microcephaly and intellectual disability true @@ -182691,6 +182798,8 @@ ICD10:F84.8 OMIM:618218 UMLS:C4748715 + BAGOS + Baker-Gordon syndrome SYT1-related neurodevelopmental disorder Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome @@ -183356,9 +183465,6 @@ - ICD-10:G71.0 - ICD10:G71.0 - OMIM:606612 UMLS:C1847759 CMD1C MDC1C @@ -183412,8 +183518,6 @@ - - @@ -183620,7 +183724,6 @@ OMIM:618126 UMLS:C0221043 Pseudoaldosteronism - Pseudohyperaldosteronism type 1 Liddle syndrome @@ -183920,6 +184023,12 @@ + + + + + + @@ -183956,6 +184065,12 @@ + + + + + + @@ -184010,6 +184125,12 @@ + + + + + + @@ -184088,6 +184209,12 @@ + + + + + + @@ -184112,6 +184239,12 @@ + + + + + + @@ -184136,6 +184269,12 @@ + + + + + + @@ -184166,6 +184305,12 @@ + + + + + + @@ -184196,6 +184341,12 @@ + + + + + + @@ -184334,6 +184485,12 @@ + + + + + + @@ -184388,6 +184545,12 @@ + + + + + + @@ -184432,6 +184595,7 @@ OMIM:606053 OMIM:617755 OMIM:618009 + OMIM:618060 OMIM:618292 OMIM:618342 OMIM:618430 @@ -184466,6 +184630,10 @@ OMIM:619306 OMIM:619314 OMIM:619320 + OMIM:619758 + OMIM:619759 + OMIM:619950 + OMIM:619951 OMIM:620065 OMIM:620098 UMLS:C5568766 @@ -184527,6 +184695,7 @@ A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. Hereditary angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases. ICD-10:D84.1 ICD10:D84.1 + MedDRA:10080955 UMLS:C4552294 HAE with C1 inhibitor deficiency HAE with C1Inh deficiency @@ -184548,6 +184717,7 @@ ICD-11:4A00.14 ICD10:T78.3 ICD11:4A00.14 + MedDRA:10080953 UMLS:C1960459 HAE with normal C1 inhibitor HAE with normal C1Inh @@ -184733,10 +184903,8 @@ - ICD-10:H40.1 - ICD10:H40.1 - Pseudoexfoliation syndrome - XFS + NON RARE IN EUROPE: Pseudoexfoliation syndrome + NON RARE IN EUROPE: XFS This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Exfoliation syndrome true @@ -185060,6 +185228,7 @@ MedDRA:10081236 + UMLS:C4728213 PROS PIK3CA-related overgrowth syndrome @@ -185090,7 +185259,6 @@ MeSH:D016767 MedDRA:10013003 OMIM:600643 - UMLS:C0162510 Caroli disease @@ -185386,7 +185554,7 @@ - Hereditary geniospasm is a movement disorder characterized by episodes of involuntary tremor of the chin and lower lip. + A rare genetic tremor disorder characterized by recurrent episodes of involuntary tremor of the chin and lower lip due to isolated myoclonus of the mentalis muscle. Patients may represent more severe symptoms such as tongue biting and psychological distress. Even though neurological abnormalities are not associated, occasional involvement of sleep disorders and other facial muscles have been described. Sporadic cases were also reported. ICD-10:G25.3 ICD10:G25.3 MESH:C537682 @@ -185623,6 +185791,7 @@ ICD10:Q79.6 ICD11:LD28.1Y OMIM:615349 + UMLS:C3809210 B3GALT6-related spEDS B3GALT6-related spondylodysplastic EDS Beta3GalT6-deficient EDS @@ -185809,6 +185978,7 @@ ICD11:LA11.1 OMIM:121400 OMIM:217300 + UMLS:C0344529 Congenital cornea plana @@ -185903,10 +186073,13 @@ + A rare congenital myopathy characterized by generalized proximal and distal muscle weakness and/or atrophy with slow progression. A subset of patients present with scapuloperoneal weakness and scapular winging. Disease onset usually occurs during infancy/childhood, but adult-onset cases have also been reported. Patients may have respiratory problems and/or cardiomyopathy. Muscle biopsies show hyaline body inclusions in type I fibers. ICD-10:G71.2 ICD-11:8C72.0Y ICD10:G71.2 ICD11:8C72.0Y + MESH:C564253 + MeSH:C564253 OMIM:255160 OMIM:608358 UMLS:C5681316 @@ -186047,7 +186220,7 @@ - ANGPT1-related HAE with normal C1 inhibitor + OBSOLETE: ANGPT1-related HAE with normal C1 inhibitor This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Hereditary angioedema with normal C1Inh not related to F12 or PLG variant OBSOLETE: ANGPT1-related hereditary angioedema with normal C1Inh true @@ -186215,6 +186388,7 @@ ICD-11:EB21 ICD10:L88 ICD11:EB21 + UMLS:C0406687 Phemphigoid pyoderma gangrenosum Bullous pyoderma gangrenosum @@ -186244,6 +186418,7 @@ + @@ -186257,11 +186432,12 @@ ICD11:4A01.22 OMIM:308240 UMLS:C5399825 - SAP deficiency - SH2D1A/SLAM-associated protein deficiency + X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency + X-linked lymphoproliferative disease due to SH2D1A deficiency + X-linked lymphoproliferative disease due to Signaling lymphocyte activation molecule-associated protein deficiency X-linked lymphoproliferative syndrome type 1 XLP1 - X-linked lymphoproliferative disease due to SH2D1A deficiency + X-linked lymphoproliferative disease due to SAP deficiency @@ -186300,9 +186476,11 @@ - + + + @@ -186323,10 +186501,11 @@ - + + @@ -186379,9 +186558,10 @@ - + + @@ -186597,9 +186777,11 @@ - + + + @@ -186688,8 +186870,6 @@ - ICD-10:G71.1 - ICD10:G71.1 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Inclusion body myopathy with Paget disease of bone and frontotemporal dementia Myotonic dystrophy type 3 true @@ -186710,6 +186890,7 @@ ICD-11:8A21.0 ICD10:G31.1 ICD11:8A21.0 + MedDRA:10078207 UMLS:C4275079 Benson syndrome Biparietal Alzheimer disease @@ -186731,8 +186912,9 @@ UMLS:C4303863 Aseptic abscesses syndrome Aseptic systemic abscesses + Corticosteroid-sensitive aseptic abscess syndrome Disseminated aseptic abscesses - Corticosteroid-sensitive aseptic abscess syndrome + Aseptic abscess syndrome @@ -187090,7 +187272,10 @@ A rare genetic developmental and epileptic encephalopathy (DEE) characterized by developmental delay, generalized epilepsy consisting of eyelid myoclonia with absences and myoclonic-atonic seizures, intellectual disability and autism spectrum disorder (ASD). ICD-10:G40.4 + ICD-11:LD90.Y ICD10:G40.4 + ICD11:LD90.Y + OMIM:612621 UMLS:C5680163 SYNGAP1-related DEE SYNGAP1-related developmental and epileptic encephalopathy @@ -187107,6 +187292,7 @@ MESH:D006463 MeSH:D006463 MedDRA:10018932 + UMLS:C0019061 HUS Hemolytic uremic syndrome @@ -187149,12 +187335,6 @@ - - - - - - @@ -187378,6 +187558,7 @@ ICD-10:C82.6 ICD-10:C82.7 ICD-10:C82.9 + ICD-11:2A80 ICD-11:2A80.0 ICD-11:2A80.1 ICD-11:2A80.2 @@ -187385,7 +187566,6 @@ ICD-11:2A80.5 ICD-11:2A80.6 ICD-11:2A80.Y - ICD-11:2A80  ICD10:C82.0 ICD10:C82.1 ICD10:C82.2 @@ -187434,7 +187614,7 @@ - Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system. + A rare neoplastic/endocrine disease characterized by benign slow growing tumors of low-grade histological malignancy (WHO grade 1) that are located within the sellar and parasellar regions of the skull base. ICD-10:D44.4 ICD10:D44.4 MESH:D003397 @@ -187836,8 +188016,8 @@ - Hyperadrenocorticism - Hypercortisolism + OBSOLETE: Hyperadrenocorticism + OBSOLETE: Hypercortisolism This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Endogenous Cushing syndrome OBSOLETE: Cushing syndrome true @@ -187852,14 +188032,14 @@ ICD-10:K90.0 ICD10:K90.0 MedDRA:10009839 - Celiac sprue - Coeliac disease - Coeliac sprue - Gluten intolerance - Gluten-induced enteropathy - Gluten-sensitive enteropathy - Idiopathic steatorrhea - Nontropical sprue + NON RARE IN EUROPE: Celiac sprue + NON RARE IN EUROPE: Coeliac disease + NON RARE IN EUROPE: Coeliac sprue + NON RARE IN EUROPE: Gluten intolerance + NON RARE IN EUROPE: Gluten-induced enteropathy + NON RARE IN EUROPE: Gluten-sensitive enteropathy + NON RARE IN EUROPE: Idiopathic steatorrhea + NON RARE IN EUROPE: Nontropical sprue This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Celiac disease true @@ -188086,6 +188266,7 @@ ICD11:GC0Y MESH:D008287 MeSH:D008287 + MedDRA:10080344 UMLS:C0024525 Malakoplakia @@ -188541,13 +188722,7 @@ - - - - - - - Marinesco-Sjögren syndrome (MSS) belongs to the group of autosomal recessive cerebellar ataxias. Cardinal features of MSS are cerebellar ataxia, congenital cataract, and delayed psychomotor development. + A rare autosomal recessive disorder characterized by cerebellar ataxia, early-onset bilateral cataracts, chronic myopathy; additional features are delayed motor development and variable intellectual disability, hypergonadotrophic hypogonadism and delayed puberty, and short stature. ICD-10:G11.1 ICD-11:8C70.6 ICD10:G11.1 @@ -189000,6 +189175,7 @@ ICD-11:DB96.0 ICD10:K75.4 ICD11:DB96.0 + UMLS:C5680121 Autoantibody-negative autoimmune hepatitis Seronegative AIH Seronegative autoimmune hepatitis @@ -189023,6 +189199,7 @@ ICD10:Q00.0 ICD11:LA00.0 MedDRA:10002320 + UMLS:C0002902 Isolated anencephaly @@ -189037,6 +189214,7 @@ ICD-11:LA00.0Y ICD10:Q00.0 ICD11:LA00.0Y + UMLS:C0266453 Isolated exencephaly @@ -189049,6 +189227,7 @@ ICD-10:D27 ICD10:D27 + UMLS:C4708593 Serous cystadenoma of ovary in childhood Serous cystadenoma of childhood @@ -189062,6 +189241,7 @@ ICD-10:D27 ICD10:D27 + UMLS:C4708594 Mucinous cystadenoma of ovary in childhood Mucinous cystadenoma of childhood @@ -189075,6 +189255,7 @@ ICD-10:D27 ICD10:D27 + UMLS:C5231009 Seromucinous cystadenoma of ovary in childhood Seromucinous cystadenoma of childhood @@ -189090,6 +189271,7 @@ ICD-11:1G01.3 ICD10:B87.0 ICD11:1G01.3 + UMLS:C0277400 Furunculoid myiasis due to Dermatobia hominis Furunculous myiasis due to Dermatobia hominis Furuncular myiasis due to Dermatobia hominis @@ -189106,6 +189288,7 @@ ICD-11:1G01.3 ICD10:B87.0 ICD11:1G01.3 + UMLS:C4511624 Furunculoid myiasis due to Cordylobia anthropophaga Furunculous myiasis due to Cordylobia anthropophaga Furuncular myiasis due to Cordylobia anthropophaga @@ -189122,6 +189305,7 @@ ICD-11:1G01.3 ICD10:B87.0 ICD11:1G01.3 + UMLS:C5231033 Furunculoid myiasis due to Cordylobia rodhaini Furunculous myiasis due to Cordylobia rodhaini Furuncular myiasis due to Cordylobia rodhaini @@ -189166,6 +189350,7 @@ ICD10:Q38.3 ICD11:LA31.1 MedDRA:10001501 + UMLS:C0158663 Isolated congenital aglossia @@ -189709,6 +189894,7 @@ A rare genetic autoinflammatory syndrome with immune deficiency characterized by a combination of autoinflammation, immunodeficiency, and neutrophil dysfunction, as well as mild bleeding diathesis. Patients present recurrent attacks of abdominal pain, high fever, and systemic inflammation lasting four to five days and occurring every few weeks. Attacks may be accompanied by nailbed, tongue, submandibular, and gluteal abscesses, intra-abdominal granulomas, pyoderma gangrenosum, and buccal ulcerations. Frequent episodes of purulent paronychia, superficial skin and mucosal infections, and purulent upper respiratory tract infections have also been reported. ICD-10:D89.8 ICD10:D89.8 + OMIM:260570 UMLS:C5568564 CAIN CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome @@ -189935,6 +190121,7 @@ + A rare cardiac malformation characterized by both atrial appendages having the morphology of the left atrial appendage. It is associated with other anomalies of the heart, systemic and pulmonary veins, and other organ systems, including the gastrointestinal, respiratory, and genitourinary tract, as well as the spleen and immune system. ICD-10:Q20.6 ICD-11:LA8Y ICD10:Q20.6 @@ -189993,6 +190180,8 @@ ICD-11:LD44.N0 ICD10:D82.1 ICD11:LD44.N0 + MESH:D004062 + MeSH:D004062 MedDRA:10012979 OMIM:125520 OMIM:188400 @@ -190091,7 +190280,6 @@ MESH:C536404 MeSH:C536404 OMIM:619263 - UMLS:C5543267 Idiopathic SRNS Idiopathic steroid-resistant nephrotic syndrome @@ -190204,6 +190392,7 @@ ICD-11:DB99.60 ICD10:K76.8 ICD11:DB99.60 + MedDRA:10074151 UMLS:C3274301 PNAC Parenteral nutrition-associated cholestasis @@ -190514,11 +190703,8 @@ - ICD-10:G12.2 - ICD10:G12.2 MESH:D010244 MeSH:D010244 - OMIM:211500 Fazio-Londe disease Progressive bulbar palsy of childhood This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Riboflavin transporter deficiency @@ -190550,6 +190736,12 @@ + + + + + + A rare genetic primary lymphedema characterized by unilateral or bilateral lower limb lymphedema of variable severity. The condition shows almost complete penetrance with onset in childhood or adolescence in females, whereas in males it shows incomplete penetrance with later onset of disease. Lymphoscintigraphy in more severely affected individuals reveals lymphatic abnormalities consistent with lymphangiectasia, valve dysfunction, and thoracic duct reflux. ICD-10:Q82.0 ICD10:Q82.0 @@ -190721,6 +190913,7 @@ ICD-11:4B2Y ICD10:D47.7 ICD11:4B2Y + UMLS:C5197665 HHV-8-negative multicentric Castleman disease Human herpesvirus-8-negative multicentric Castleman disease Idiopathic multicentric Castleman disease @@ -190903,7 +191096,7 @@ A rare autosomal recessive primary immunodeficiency characterized by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood. ICD-10:D81.7 - ICD-11:4A01.12  + ICD-11:4A01.12 ICD10:D81.7 ICD11:4A01.12 MESH:C537079 @@ -190961,7 +191154,6 @@ ICD-11:LD44.30 ICD10:Q10.3 ICD11:LD44.30 - OMIM:110100 UMLS:C5437588 3q23 microdeletion syndrome BPES plus @@ -191041,6 +191233,7 @@ MESH:C566196 MeSH:C566196 OMIM:113000 + UMLS:C1862112 Brachydactyly type B1 @@ -191088,6 +191281,7 @@ ICD10:G12.1 ICD11:LD2H.Y OMIM:211530 + UMLS:C0796274 RTD2 Riboflavin transporter deficiency 2 RFVT2-related riboflavin transporter deficiency @@ -191111,6 +191305,7 @@ ICD10:G12.1 ICD11:LD2H.Y OMIM:614707 + UMLS:C3553538 RTD3 Riboflavin transporter deficiency 3 RFVT3-related riboflavin transporter deficiency @@ -191572,6 +191767,7 @@ ICD-10:Q87.8 ICD10:Q87.8 MedDRA:10083270 + OMIM:612313 UMLS:C5243581 SAS SATB2-associated syndrome @@ -191835,9 +192031,9 @@ A rare neurodegenerative disorder of the astrocytes comprised of two clinical forms: Alexander disease (AxD) type I and type II manifesting with various degrees of macrocephaly, spasticity, ataxia and seizures and leading to psychomotor regression and death. - ICD-10:E75.2 + ICD-10:G93.8 ICD-11:8A44.2 - ICD10:E75.2 + ICD10:G93.8 ICD11:8A44.2 MESH:D038261 MeSH:D038261 @@ -192116,8 +192312,6 @@ - ICD-10:I30 - ICD10:I30 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Pericarditis true @@ -192258,6 +192452,12 @@ + + + + + + ICD-10:Q87.8 ICD-11:LD20.1 ICD10:Q87.8 @@ -192355,7 +192555,7 @@ - Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not) that can have neonatal (most severe), infantile (most common) and juvenile (rare) presentations with manifestations including hypotonia, coarse facial features, mild deafness, skeletal anomalies, ichthyosis, hepatomegaly, developmental delay, progressive neurologic deterioration and hydrocephalus. + A rare lysosomal disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysosomal or not). Clinical manifestations can include developmental delay, progressive neurologic deterioration, hydrocephalus, hypotonia, coarse facial features, retinopathy, skeletal anomalies, hepatomegaly and ichthyosis to a variable degree. Multiple sulfatase deficiency (MSD) comprises severe to attenuated forms historically classified as neonatal (most severe form), infantile (most common form) or juvenile (rarest form). ICD-10:E75.2 ICD-11:5C56.0Y ICD10:E75.2 @@ -192364,7 +192564,7 @@ MeSH:D052517 OMIM:272200 UMLS:C0268263 - Juvenile sulfatidosis, Austin type + Austin disease MSD Mucosulfatidosis Multiple sulfatase deficiency @@ -192413,6 +192613,7 @@ ICD-10:C91.0 ICD10:C91.0 + UMLS:C2698313 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality @@ -192515,6 +192716,7 @@ ICD-11:2A70.Y ICD10:C91.0 ICD11:2A70.Y + UMLS:C2698311 B-lymphoblastic leukemia/lymphoma with hyperdiploidy @@ -192529,6 +192731,7 @@ ICD-11:2A70.Y ICD10:C91.0 ICD11:2A70.Y + UMLS:C2698312 Hypodiploid ALL B-lymphoblastic leukemia/lymphoma with hypodiploidy @@ -192647,10 +192850,6 @@ - ICD-10:L72.8 - ICD-11:2C31.1 - ICD10:L72.8 - ICD11:2C31.1 MESH:D055653 MeSH:D055653 MedDRA:10063042 @@ -193393,7 +193592,7 @@ - Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course. + A rare autosomal dominant distal myopathy characterized by preferential weakness of the great toe, ankle dorsiflexor, finger extensor and neck flexor. Progression is slow with variations in age of onset, severity, weakness, cardiac, and respiratory involvement. ICD-10:G71.0 ICD10:G71.0 OMIM:160500 @@ -193427,7 +193626,6 @@ MESH:C564992 MeSH:C564992 OMIM:136900 - OMIM:264420 UMLS:C1850938 Sorsby pseudoinflammatory fundus dystrophy @@ -193601,13 +193799,11 @@ - - - ICD-10:H46 - ICD10:H46 - UMLS:C5680299 - Isolated optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies - Isolated optic neuritis without anti-MOG antibodies + + OBSOLETE: Isolated optic neuritis without anti-myelin oligodendrocyte glycoprotein antibodies + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated optic neuritis + OBSOLETE: Isolated optic neuritis without anti-MOG antibodies + true @@ -193615,13 +193811,11 @@ - - - ICD-10:H46 - ICD10:H46 - UMLS:C5680300 - Isolated optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies - Isolated optic neuritis with anti-MOG antibodies + + OBSOLETE: Isolated optic neuritis with anti-myelin oligodendrocyte glycoprotein antibodies + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Isolated optic neuritis + OBSOLETE: Isolated optic neuritis with anti-MOG antibodies + true @@ -193733,6 +193927,8 @@ A rare, malignant group of gestational trophoblastic diseases always following pregnancy, most often molar pregnancy (hydatidiform mole). Four histological forms are described: invasive mole, gestational choriocarcinoma, placental site trophoblastic tumor (PSTT) and epithelioid trophoblastic tumor (ETT). ICD-11:2C75.0 ICD11:2C75.0 + MESH:D031901 + MeSH:D031901 MedDRA:10061988 UMLS:C1135868 GTN @@ -194075,8 +194271,16 @@ + + + + + + + A rare non-severe combined immunodeficiency characterized by TNF-dependent chronic mucocutaneous ulcerations and inflammatory bowel disease presenting during the first years of life. Ulcerations occur primarily in the oral, gastrointestinal, and vaginal mucosa. ICD-10:D81.8 ICD10:D81.8 + OMIM:618287 UMLS:C5680288 CID due to RELA haploinsufficiency Combined immunodeficiency due to RELA haploinsufficiency @@ -194963,6 +195167,7 @@ Pulmonary nodular lymphoid hyperplasia (PNHL) is a reactive lymphoid proliferation manifesting as solitary or multiple nodules in the lung. ICD-10:J98.4 ICD10:J98.4 + MedDRA:10077412 OMIM:178610 UMLS:C1334969 Pulmonary pseudolymphoma @@ -195118,10 +195323,12 @@ UMLS:C1997249 Alcock syndrome Pudendal algia - Pudendal nerve entrapment syndrome + Pudendal neuralgia Pudendal neuralgia by pudendal nerve entrapment + Pudendal neuropathic pain syndrome + Pudendal neuropathy Pudendalgia - Pudendal neuralgia + Pudendal nerve entrapment syndrome @@ -195224,6 +195431,7 @@ + A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, severe intellectual disability, severe speech and communication problems and distinctive dysmorphic faces (high hairline, thin eyebrows, hypertelorism, dysmorphic ears, broad nasal bridge and tip, and narrow jaw). Height is not affected. Some patients may also present autistic behaviors. ICD-10:G93.8 ICD10:G93.8 OMIM:618147 @@ -195620,6 +195828,7 @@ + A rare multiple congenital anomalies/dysmorphic syndrome characterized by central nervous system abnormalities (particularly cerebellar hypoplasia), congenital microcephaly, intellectual disability, severe neurodevelopmental delay, growth impairment,dystonia, eye abnormalities (particularly cataract whereas retinal dystrophy and Leber congenital amaurosis are also reported) and congenital dyserythropoietic anemia. Additional clinical features may include other structural brain abnormalities (such as cerebral atrophy, basal ganglia atrophy, brainstem hypoplasia), feeding difficulties, sleep disturbances, hepatomegaly, and sensorineural deafness. ICD-10:Q04.8 ICD10:Q04.8 OMIM:619273 @@ -195640,6 +195849,7 @@ + A rare syndromic optic nerve hypoplasia characterized by coloboma, osteopetrosis (particularly of the anterior ribs and femoral heads), severe microphthalmia, macrocephaly, albinism, and profound congenital deafness. Patients may also have additional eye anomalies including microcornea with pannus, dense bilateral cataracts, and translucent irides. Craniofacial dysmorphism (including frontal bossing, shallow orbits, preauricular pits, posteriorly rotated ears, micrognathia and wide palatine ridges) is also reported. ICD-10:Q87.8 ICD10:Q87.8 OMIM:617306 @@ -195760,6 +195970,7 @@ + A rare centronuclear myopathy characterized by a variable severity of muscle weakness which is typically asymmetric with a limb-girdle pattern. Severity can range from skeletal asymmetry to loss of ambulation. Other manifestations may include respiratory muscle weakness, urinary incontinence, bulbar signs (facial weakness, limitation of extra-ocular movements, ophthalmoparesis, ptosis and dysarthria), or skeletal involvement (kyphoscoliosis, scoliosis, joint hyperlaxity, joint contractures of the lower extremities, foot deformities and hand and/or facial contractures). Many female carriers remain asymptomatic. ICD-10:G71.2 ICD10:G71.2 OMIM:310400 @@ -195973,6 +196184,7 @@ + A rare genetic neurodegenerative disease characterized by childhood-onset severe developmental delay with regression, poor motor development, speech impairment and hypotonia due to CLCN6 mutations. Most of the patients have vision abnormalities, respiratory system abnormalities (including chronic respiratory insufficiency and tracheostomy that may lead to ventilator dependency) and feeding difficulties (percutaneous endoscopic gastronomy). Skin abnormalities including hyperhidrosis can be present. ICD-10:G31.8 ICD-10:G93.8 ICD10:G31.8 @@ -196066,6 +196278,7 @@ + A rare constitutional aplastic anemia characterized by aplastic anemia, intellectual disability, short stature and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global developmental delay with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioral problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukemia. ICD-10:D61.0 ICD10:D61.0 OMIM:619151 @@ -196084,6 +196297,7 @@ + A rare mesomelic and rhizo-mesomelic dysplasia characterized by marked mesomelic shortening of the lower limbs, cutaneous syndactyly and nail abnormalities (placed on the palmar side of the finger, dysplastic or absent) in hands and feet due mutations in EN1 gene. Other clinical features may include genitourinary abnormalities (including bilateral cryptorchidism, vesicoureteral reflux, hydronephrosis, hypoplastic labia majora), spasticity and seizures. ICD-10:Q87.2 ICD10:Q87.2 OMIM:619217 @@ -196327,7 +196541,7 @@ ICD-11:EF40.20 ICD10:L92.2 ICD11:EF40.20 - MedDRA:C0239495 + MedDRA:10063944 UMLS:C0239495 Facial granuloma of Lever Granuloma of Lever @@ -196363,6 +196577,7 @@ + A rare neurometabolic disease characterized by acute, reversible, and sometimes recurrent neurologic deterioration (including drowsiness, hypotonia, dysarthria, and ataxia) during a febrile illness. The condition is associated with reversible leukoencephalopathy and persistently increased urinary excretion (and sometimes cerebrospinal fluid concentration) mainly of alpha-ketoglutarate and N-acetylaspartate. ICD-10:G93.4 ICD10:G93.4 OMIM:618384 @@ -196380,6 +196595,7 @@ + A rare disorder related to pregnancy characterized by a placental inflammatory process with clusters of histiocytes and associated fibrin in intervillous spaces, resulting in adverse pregnancy outcomes including intrauterine growth restriction, preterm birth, and pregnancy loss. Higher grading according to the proportion of involved intervillous space has been associated with poorer outcomes. There is a significant risk of recurrence in subsequent pregnancies. ICD-10:O43.8 ICD10:O43.8 UMLS:C5680386 @@ -196394,6 +196610,12 @@ + + + + + + ICD-10:Q04.8 ICD-11:LD20.0Y ICD10:Q04.8 @@ -196607,6 +196829,7 @@ + A rare neurologic (adult-onset) movement disorder characterized by persistent pain (unilateral or bilateral) in the feet or legs (most commonly the hemi-lower limbs) and persistant twisting, non-rhythmic, involuntary movements of one or more toes. Chronic "deep aching pulling pain" includes tingling, numbness, aching, dullness, cramp, shooting, sharp, burning, and prickling. ICD-10:G25.8 ICD10:G25.8 UMLS:C5680388 @@ -196623,6 +196846,7 @@ + A rare genetic disorder involving multiple structures of the eye, characterized by the combination of congenital aphakia and panocular anomalies including iris hypoplasia, microphthalmia, and microcornea. Other ophthalmological features may include nystagmus, glaucoma, strabismus, congenital leukocoria, anterior persistent fetal vasculature and posteriour segment anomalies (e.g. optic nerve and foveal hypoplasia, intravitreous hemorrhages). No extraocular manifestations are observed. ICD-10:Q13.8 ICD10:Q13.8 UMLS:C5681820 @@ -196653,13 +196877,15 @@ - + + A rare pulmonary neuroendocrine tumor, most often presenting in women over 50 years and no smokers, characterized by long-lasting cough (>10 years), and less frequently by dispnea or wheezing. A proportion of patients are asymptomatic, the disease being an incidental finding during routine check-ups. Diffuse pulmonary nodules and mosaic attenuation can be detected by CT-scan however only histopathology can confirm the diagnosis detecting a multifocal hyperplasia of pulmonary neuroendocrine cells (carcinoid tumorlets). Ventilatory dysfunction can be obstructive and less often restrictive, mixed or non-specific. Symptoms can progress slowly but sometimes lead to respiratory failure. It is considered as a precursor for pulmonary carcinoid tumor. ICD-10:J84.8 ICD-11:2F00.Y ICD10:J84.8 ICD11:2F00.Y + MedDRA:10082591 UMLS:C1333291 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia @@ -196698,6 +196924,7 @@ ICD-11:3B11.Y ICD10:D67 ICD11:3B11.Y + MedDRA:10016077 F9 deficiency, Leyden type Factor IX deficiency, Leyden type Hemophilia B Leyden @@ -196791,11 +197018,11 @@ ICD-10:E28.3 ICD10:E28.3 MedDRA:10036601 - Hypergonadotropic ovarian failure - Premature menopause - Premature ovarian failure - Premature ovarian insufficiency - Primary ovarian insufficiency + NON RARE IN EUROPE: Hypergonadotropic ovarian failure + NON RARE IN EUROPE: Premature menopause + NON RARE IN EUROPE: Premature ovarian failure + NON RARE IN EUROPE: Premature ovarian insufficiency + NON RARE IN EUROPE: Primary ovarian insufficiency This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Primary ovarian failure true @@ -196832,6 +197059,7 @@ + UMLS:C5816810 Rare hereditary autoinflammatory disease @@ -196890,13 +197118,13 @@ - + @@ -196906,9 +197134,9 @@ ICD-10:D76.1 ICD10:D76.1 UMLS:C5680418 - Neonatal-onset autoinflammation-cytopenia-facial dysmorphism syndrome - Neonatal-onset severe multisystemic autoinflammatory disease with increased interleukin 18 - Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18 + Neonatal-onset cytopenia-autoinflammation-rash episodes of HLH syndrome + Neonatal-onset cytopenia-autoinflammation-rash episodes of hemophagocytic lymphohistiocytosis syndrome + NOCARH syndrome @@ -196942,9 +197170,9 @@ - + @@ -196955,9 +197183,10 @@ ICD10:D71 OMIM:618847 UMLS:C5680413 - Immunodeficiency due to impaired neutrophil phagocytosis and migration + Congenital neutropenia-CID due to MKL1 deficiency + Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency MKL1-related neutrophil motility defect - Immune deficiency due to impaired neutrophil phagocytosis and migration + Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency @@ -196966,10 +197195,10 @@ - + @@ -196980,8 +197209,9 @@ ICD10:D84.8 OMIM:619375 UMLS:C5680416 + Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency SOCS1-related autoinflammatory syndrome - Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome + Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency @@ -196989,7 +197219,6 @@ - @@ -197023,6 +197252,7 @@ + A rare hyper-IgE syndrome characterized by early-onset moderate to severe atopic dermatitis and recurrent infections of variable severity including molluscum contagiosum, pneumonia, abscesses, bacteremia, or eczema herpeticum, among others. Other reported manifestations include asthma, food allergies, colitis, chronic diarrhea, lymphoma, and seizures, as well as dysmorphic facial features, such as prominent forehead, broad nose, and poor dentition. ICD-10:D81.8 ICD10:D81.8 OMIM:617638 @@ -197047,6 +197277,7 @@ + A rare syndrome with combined immunodeficiency characterized by mild developmental delay, learning disability, failure to thrive, short stature, immunodeficiency leading to recurrent respiratory and skin infections, leukoencephalopathy, and hypohomocysteinaemia. Additional clinical features may include heart defects. ICD-10:E72.1 ICD10:E72.1 OMIM:617744 @@ -197093,9 +197324,7 @@ - ICD-10:Q43.3 - ICD10:Q43.3 - Universal mesentery + NON RARE IN EUROPE: Universal mesentery This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Common mesentery true @@ -197354,6 +197583,7 @@ MESH:C537652 MeSH:C537652 OMIM:601678 + UMLS:C1866495 Bartter syndrome type I Bartter syndrome type 1 @@ -197379,6 +197609,7 @@ MESH:C537651 MeSH:C537651 OMIM:241200 + UMLS:C1855849 Bartter syndrome type II Bartter syndrome type 2 @@ -197642,9 +197873,9 @@ ICD-10:Q77.7 - ICD-11:LD24.5Y + ICD-11:LD24.4 ICD10:Q77.7 - ICD11:LD24.5Y + ICD11:LD24.4 UMLS:C5680412 SBDS-related severe neonatal SMD Spondylometaphyseal dysplasia, Sedaghatian-like type @@ -197657,8 +197888,6 @@ - ICD-10:D44.8 - ICD10:D44.8 Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Carney complex NAME syndrome @@ -197958,10 +198187,8 @@ - ICD-10:I78.1 - ICD10:I78.1 - Clark nevus - Dysplastic nevus + NON RARE IN EUROPE: Clark nevus + NON RARE IN EUROPE: Dysplastic nevus This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Atypical mole true @@ -198011,6 +198238,7 @@ + UMLS:C5816777 Rare andrological tumor @@ -198524,8 +198752,6 @@ - ICD-10:I67.3 - ICD10:I67.3 Hereditary endotheliopathy-retinopathy-nephropathy-stroke syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations HERNS syndrome @@ -198553,6 +198779,7 @@ ICD10:Q87.8 ICD11:LD24.GY OMIM:201750 + UMLS:C3150099 Ambiguous genitalia-disordered steroidogenesis Antley-Bixler syndrome Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis @@ -198677,6 +198904,9 @@ ICD-11:LD90.Y ICD10:Q87.8 ICD11:LD90.Y + OMIM:619080 + OMIM:619083 + UMLS:C5816806 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome @@ -198698,6 +198928,8 @@ ICD10:Q87.8 ICD11:LD90.Y OMIM:619080 + UMLS:C5816804 + Kilquist syndrome SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome @@ -198719,6 +198951,8 @@ ICD10:Q87.8 ICD11:LD90.Y OMIM:619083 + UMLS:C5816805 + Delpire-McNeill syndrome SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome @@ -198736,6 +198970,7 @@ + A rare Prader-Willi-like syndrome characterized by intellectual disability, morbid obesity, hypogonadotrophic hypogonadism, hyperphagia and developmental delay. Endocrine disorders including hypothyroidism and insulin resistance can be observed. Unlike Prader-Willi syndrome, profound muscular hypotonia, feeding difficulties in neonates, short stature and growth hormone deficiency are not observed. ICD-10:Q87.8 ICD10:Q87.8 BDV syndrome @@ -198780,6 +199015,7 @@ ICD-11:LA07.1 ICD10:Q06.2 ICD11:LA07.1 + UMLS:C5816809 Split cord malformation type 1.5 Split cord malformation, intermediate type Split cord malformation, mixed type @@ -198815,6 +199051,7 @@ ICD-10:B48.7 ICD10:B48.7 + UMLS:C5816808 Invasive scopulariopsis infection @@ -198828,6 +199065,7 @@ ICD-10:Q73.8 ICD10:Q73.8 + UMLS:C5816807 Preaxial brachydactyly, PAX3 type Preaxial digit brachydactyly-webbed fingers @@ -198842,10 +199080,11 @@ ICD-10:Q74.8 ICD10:Q74.8 + UMLS:C0431996 CPFD - Congenital proximal femoral deficiency + Isolated congenital proximal femoral deficiency PFFD - Proximal femoral focal deficiency + Isolated proximal femoral focal deficiency @@ -198885,11 +199124,11 @@ - Acrocephaly - Hypsicephaly - Hypsocephaly - Pyrgocephaly - Turricephaly + OBSOLETE: Acrocephaly + OBSOLETE: Hypsicephaly + OBSOLETE: Hypsocephaly + OBSOLETE: Pyrgocephaly + OBSOLETE: Turricephaly This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic craniosynostosis OBSOLETE: Isolated oxycephaly true @@ -198972,7 +199211,10 @@ A rare mosaic form of neurofibromatosis type 1 (NF1) characterized by findings typical of NF1, namely multiple café-au-lait macules (CALMs), cutaneous neurofibromas, skinfold freckling/lentiginous macules, iris Lisch nodules and tumors of the nervous system. Mosaic form is caused by postzygotic pathogenic variants in NF1-gene. In mosaic NF1 the allelic/tissue distribution of the pathogenic NF1-variant clearly suggests mosaicsm and/or the distribution of CALMs and cutaneous neurofibromas is segmental. The phenotype can be milder than in NF1. ICD-10:Q85.0 + ICD-11:LD2D.1Y ICD10:Q85.0 + ICD11:LD2D.1Y + UMLS:C5782097 MNF1 Mosaic NF1 Mosaic neurofibromatosis type 1 @@ -198989,6 +199231,7 @@ A rare mosaic form of NF2-related schwannomatosis characterized by findings typical of NF2-related schwannomatosis, namely development of multiple benign nerve sheath tumors called schwannomas, particularly affecting the vestibular nerve. Mosaic form is caused by postzygotic pathogenic variants in NF2. In mosaic NF2-related schwannomatosis the allelic/tissue distribution of the pathogenic NF2 variant clearly suggests mosaicism. The phenotype can be milder than in NF2-related schwannomatosis. ICD-10:Q85.0 ICD10:Q85.0 + UMLS:C5816778 MNF2 Mosaic NF2 Mosaic neurofibromatosis type 2 @@ -199003,9 +199246,10 @@ - A rare mosaic form of schwannomatosis characterized by findings typical of schwannomatosis, namely multiple benign nerve sheath tumors called schwannomas. Mosaic form is caused by postzygotic pathogenic variants in SMARCB1 or LZTR1. In mosaic svhwannomatosis the allelic/tissue distribution of the pathogenic variant clearly suggests mosaicism. The phenotype can be milder than in schwannomatosis. + A rare mosaic form of schwannomatosis characterized by findings typical of schwannomatosis, namely multiple benign nerve sheath tumors called schwannomas. Mosaic form is caused by postzygotic pathogenic variants in SMARCB1 or LZTR1. In mosaic schwannomatosis the allelic/tissue distribution of the pathogenic variant clearly suggests mosaicism. The phenotype can be milder than in schwannomatosis. ICD-10:Q85.0 ICD10:Q85.0 + UMLS:C5816779 MNF3 Mosaic SWN Mosaic neurilemmomatosis @@ -199025,7 +199269,10 @@ A rare mosaic form of Legius syndrome characterized by findings typical of Legius syndrome, namely multiple café-au-lait macules (CALMs) with or without axillary or inguinal freckling. Mosaic form is caused by postzygotic pathogenic variants in SPRED1 gene. In mosaic Legius syndrome the allelic/tissue distribution of the pathogenic SPRED1-variant clearly suggests mosaicsm and/or the distribution of CALMs is segmental. The phenotype can be milder than in Legius syndrome. ICD-10:Q85.0 + ICD-11:LD27.Y ICD10:Q85.0 + ICD11:LD27.Y + UMLS:C5816780 Mosaic NF1-like syndrome Mosaic neurofibromatosis 1-like syndrome Mosaic Legius syndrome @@ -199039,6 +199286,7 @@ + UMLS:C5816781 NF/SWN Neurofibromatosis/schwannomatosis @@ -199179,12 +199427,15 @@ ICD-10:B37.8 + ICD-11:1F23.3 ICD10:B37.8 + ICD11:1F23.3 MESH:C536777 MeSH:C536777 UMLS:C0153252 + Disseminated candidiasis Systemic candidiasis - Invasive Candidiasis + Invasive candidiasis @@ -199210,10 +199461,13 @@ + A rare autoimmune bullous skin disease characterized by the formation of subcorneal blisters mediated by autoantibodies against desmoglein 1, affecting predominantly seborrheic areas such as the head, neck, and upper trunk, but without any mucosal involvement. The lesions may be worsened by exposure to UV light and typically progress over weeks or months. The disease frequently occurs in children and young adults and is endemic to rural areas of Brazil and other countries in South America, as well as North Africa. ICD-10:L10.3 ICD-11:EB40.1 ICD10:L10.3 ICD11:EB40.1 + MESH:C535551 + MeSH:C535551 UMLS:C0263314 Fogo selvagem Endemic pemphigus foliaceus @@ -199288,7 +199542,6 @@ ICD11:LD2D.11 MESH:D016518 MeSH:D016518 - MedDRA:10000523 OMIM:101000 UMLS:C0027832 Full NF2 @@ -199328,10 +199581,12 @@ + A rare infectious disease characterized by severe non-purulent meningoencephalitis caused by Borna disease virus 1 (BoDV-1). Patients present with fever, headache, malaise, and fatigue, followed after a few days by nausea, confusion and disorientation, and psychomotor slowing. Ataxia, aphasia, dyspnea, multifocal myoclonic jerks, and paraplegia have been described. The condition is very often fatal after progress to lethargy, deteriorating brain stem reflexes, and coma. Examination of the cerebrospinal fluid reveals moderate lympho-monocytic pleocytosis and presence of BoDV-1 RNA. ICD-10:A85.8 ICD-11:1C80 ICD10:A85.8 ICD11:1C80 + UMLS:C5816783 Bornavirus encephalitis Borna virus encephalitis @@ -199374,6 +199629,7 @@ ICD-11:LA13.71 ICD10:Q07.8 ICD11:LA13.71 + UMLS:C5816782 Isolated optic nerve aplasia @@ -199577,6 +199833,9 @@ + MESH:D000096803 + MeSH:D000096803 + UMLS:C5816793 Imprinting disorders @@ -199588,6 +199847,9 @@ + ICD-10:E23.1 + ICD10:E23.1 + UMLS:C5816794 Immunotherapy induced hypophysitis @@ -199605,7 +199867,11 @@ + A rare genetic neurological syndrome of variable severity characterized by progressive spasticity affecting predominantly the lower limbs. Most patients manifest global developmental delay, moderate to severe intellectual disability and white matter abnormalities in infancy complicated by variable features including seizures, episodic respiratory failure, joint contractures and ocular problems. Some patients have normal early development until later childhood followed by regression in motor, cognitive and language skills over time. Some patients manifest only spastic paraplegia. + ICD-10:G93.4 + ICD10:G93.4 OMIM:619026 + UMLS:C5816791 HPDL-related Leigh-like encephalopathy HPDL-related infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome @@ -199625,6 +199891,9 @@ + A rare genetic neurological syndrome characterized by cerebellar ataxia, neurodevelopmental delay, poor motor development and growth, mild to severe intellectual disability and infantile-onset hypotonia. Many patients have cardiac conduction and rhythm anomalies (including bundle branch block, bradycardia, sinus node dysfunction, intraventricular conduction delay, atrioventricular block, and ventricular tachycardia) in childhood or adolescence. Additional clinical features may include variable ocular anomalies and dysmorphic features. + ICD-10:G11.1 + ICD10:G11.1 OMIM:619576 UMLS:C5562005 Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome @@ -199648,36 +199917,19 @@ - - - - - - - - - - - - - - - - - - - - - - - - + A rare hyper-IgE syndrome characterized by atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections. + ICD-10:D82.4 ICD-11:4A01.34 + ICD10:D82.4 ICD11:4A01.34 + OMIM:243700 + OMIM:615816 OMIM:618282 + OMIM:618523 + OMIM:618944 AR-HIES due to ZNF341 deficiency - Autosomal dominant hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency Autosomal recessive HIES due to ZNF341 deficiency + Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency @@ -199690,6 +199942,7 @@ ICD-11:2A70.Y ICD11:2A70.Y + UMLS:C5816790 b-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) @@ -199709,6 +199962,7 @@ ICD-11:2A70.Y ICD11:2A70.Y + UMLS:C5816789 b-lymphoblastic leukemia/lymphoma with t(17;19) B-lymphoblastic leukemia/lymphoma with t(17;19) @@ -199728,8 +199982,12 @@ + A rare autoinflammatory syndrome characterized by a chronic-relapsing course of the combination of pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on the face, neck, scalp, back, and buttocks, among others). Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently. + ICD-10:L88 ICD-11:EB21 + ICD10:L88 ICD11:EB21 + UMLS:C5816787 Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome PAPASH syndrome @@ -199742,8 +200000,12 @@ + A rare autoinflammatory syndrome characterized by a chronic-relapsing course of the combination of pyoderma gangrenosum, acne, hidradenitis suppurativa (which, in addition to axillae and inguinal folds, can be observed on upper and lower limbs, back, and buttocks, among others), and ankylosing spondylitis. Typical age of onset is adolescence to young adulthood, with the different signs and symptoms appearing simultaneously or subsequently. + ICD-10:L88 ICD-11:EB21 + ICD10:L88 ICD11:EB21 + UMLS:C5816788 Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome PASS syndrome @@ -199756,8 +200018,12 @@ + A rare autoinflammatory syndrome characterized by the combination of psoriatic arthritis, pyoderma gangrenosum, acne, and suppurative hidradenitis (which, in addition to axillae and inguinal folds, can be observed in other areas, such as the buttocks or labia majora). + ICD-10:L88 ICD-11:EB21 + ICD10:L88 ICD11:EB21 + UMLS:C5816786 Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome PsAPASH syndrome @@ -199787,6 +200053,8 @@ ICD10:G07* ICD10:G63.0* ICD11:1B11 + MESH:D020306 + MeSH:D020306 UMLS:C0275904 CNS tuberculosis Central nervous system tuberculosis @@ -199800,6 +200068,7 @@ + A rare neurologic disease with psychiatric involvement characterized by prominent pre-psychotic developmental disabilities (cognitive, language, motor), socio-communicative disturbances, auditory hallucinations (visual and tactile hallucinations are rarer) preceding psychotic symptoms, presenting before 13 years of age. Co-occurrence of neurodevelopmental disorders (e.g. autism spectrum disorders, attention deficit hyperactivity disorder) is frequent. Disease course is more severe than adult-onset form of the disease, with major neurodevelopmental impact. ICD-10:F20.0 ICD-10:F20.1 ICD-10:F20.2 @@ -199816,6 +200085,8 @@ ICD10:F20.5 ICD10:F20.6 ICD10:F20.8 + MESH:D012561 + MeSH:D012561 UMLS:C0036346 COS VEOS @@ -199830,6 +200101,8 @@ + A rare group of endocrine disorders caused by prolonged and high exposure levels to glucocorticoids of endogenous (adrenal cortex production) origin. Typical clinical features are truncal and facial obesity, hypercatabolic syndrome (thinned skin, purple striae, ecchymosis, bruising with no obvious trauma, proximal muscle weakness with amyotrophy, osteoporosis) and, in children, weight gain with decreasing growth velocity. + UMLS:C5419158 Endogenous CS Endogenous Cushing syndrome @@ -199842,6 +200115,10 @@ + A rare non-inflammatory vasculopathy characterized by intracompartmental pressure typically in a distal upper extremity due to intrauterine ischemia and external compression. Affected limb presents significant swelling and sentinel skin changes (desquamation, blister/bullae formation, and skin necrosis). It can lead to long-term sequelae including Volkmann contracture, limb length discrepancies,bone growth abnormalities and nerve lesions. Neurologic involvement, ranging from sensory and motor nerve palsies to complete hand paralysis, may persist. + ICD-10:P01.8 + ICD10:P01.8 + UMLS:C5782100 CVIC Congenital Volkmann ischemic contracture syndrome NCS @@ -199885,7 +200162,7 @@ - Adrenal CS due to isolated adrenocortical benign tumor + OBSOLETE: Adrenal CS due to isolated adrenocortical benign tumor This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Adrenal Cushing syndrome OBSOLETE: Adrenal Cushing syndrome due to isolated adrenocortical benign tumor true @@ -199899,6 +200176,10 @@ + ICD-10:Q26.8 + ICD10:Q26.8 + UMLS:C5816802 + Congenital pulmonary vein stenosis PPVS Primary pulmonary vein stenosis @@ -199918,16 +200199,18 @@ + A rare primary bone dysplasia characterized by multiple joint dislocations, in particular in hips and knees present at birth, but the elbows, wrists, ankles, and patellae can also be affected; severe joint laxity, scoliosis, slender fingers with distal tapering, and growth deficiency developing in the post-natal period resulting in short stature. Gracile metacarpals and metatarsals, delayed bone age with poorly ossified carpal and tarsal bones, metaphyseal and epiphyseal dysplasia, slender ribs, and spondylar dysplasia are radiographical signs. Intelligence is usually normal. ICD-10:Q77.7 ICD-11:LD24.3 ICD10:Q77.7 ICD11:LD24.3 OMIM:618395 UMLS:C5193073 + EXOC6B-SEMD-JL SEMD-JL3 SEMDJL3 Spondyloepimetaphyseal dysplasia with joint laxity type 3 - Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type + EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity @@ -199945,6 +200228,7 @@ + A rare primary bone dysplasia with multiple joint dislocations characterized by stunted stature, articular hypermobility and spinal malalignment resulting in severe progressive kyphosis. Joint dislocations include bilateral dislocation of the radial heads with elbow contractures, feet (bilateral talipes equinovarus) and congenital dislocations of the hip and genu valgus. Joint laxity is particularly observed in fingers. Spinal changes include moderate platyspondyly with anterior projection of the vertebral bodies. Facial features of oval face with a flattened nasal bridge, button nose, long upper lip, prominent eyes and blue sclera are characteristic but variable. Patients may also present mild skin extensibility, spatulate terminal phalanges, lip and palate clefts, micrognathia and structural cardiac malformations. ICD-10:Q77.7 ICD-11:LD24.3 ICD10:Q77.7 @@ -199971,6 +200255,8 @@ + ICD-10:E26.0 + ICD10:E26.0 OMIM:617027 UMLS:C3554373 FH4 @@ -199993,8 +200279,13 @@ + A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to moderate intellectual disability, autism spectrum phenotype, macrocephaly, tall stature, gastrointestinal problems (including recurrent constipation), distinctive facial features (including wide-set eyes with down-slanted palpebral fissure, broad nose with full nasal tip, pointed chin and broad forehead with prominent supraorbital ridge) and sleep problems. Other clinical manifestations include anxiety problems, attention problems, impaired social interactions and seizures. + ICD-10:Q87.3 + ICD10:Q87.3 OMIM:615032 + UMLS:C5816801 CHD8-related intellectual disability-autism-macrocephaly-tall stature syndrome + Chromodomain helicase DNA binding protein 8 overgrowth syndrome CHD8 overgrowth syndrome @@ -200013,7 +200304,18 @@ + A rare, genetic premature ovarian failure characterized by decreased, abnormal or loss of ovarian function prior to age 40 in women bearing a premutation in <i>FMR1</i> gene, defined as an expansion of 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. Clinical features include irregular or absent menstrual cycles (amenorrhea), irregular ovulation and altered hormone profile (hypoestrogenism, and elevated serum gonadotropin levels) associated to fragile X premutation. Most of the patients have fertility problems (subfertility or infertility) and undergo early menopause. + ICD-10:E28.3 + ICD10:E28.3 OMIM:311360 + FXPOI + Fragile X-associated POF + Fragile X-associated POI + Fragile X-associated premature ovarian failure + POF associated with fragile X premutation + POI associated with fragile X premutation + Premature ovarian failure associated with fragile X premutation + Primary ovarian insufficiency associated with fragile X premutation Fragile X-associated primary ovarian insufficiency @@ -200043,9 +200345,12 @@ A rare hereditary ataxia characterized by adult onset of slowly progressive cerebellar degeneration with gait ataxia, dysmetria, dysarthria, and in some cases diplopia. Cognitive functions are normal, and seizures are absent. Magnetic resonance imaging reveals mild atrophy of the cerebellar vermis. + ICD-10:G11.2 ICD-11:8A03.1Y + ICD10:G11.2 ICD11:8A03.1Y OMIM:617931 + UMLS:C5816800 Adult-onset SCA47 Adult-onset spinocerebellar ataxia type 47 PUM1-related cerebellar ataxia @@ -200066,6 +200371,9 @@ + A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual disability frequently co-occuring with behavioral problems (including anxiety, attention deficit hyperactivity disorder and autistic spectrum disorder), variable somatic overgrowth, macrocephaly and distinctive dysmorphic facial features including high hairline, frontal bossing, downslanting palpebral fissures, telecanthus, hypertelorism, deep-set eyes and full cheeks. Pierre Robin sequence with submucous cleft has also been reported. Additional clinical features include skeletal abnormalities, hypotonia, cardiac anomalies, hypothyroidism, cryptorchidism, visual disturbances and ectodermal problems such as sparse hair, thin nails, and abnormal dentition. + ICD-10:Q87.8 + ICD10:Q87.8 OMIM:617537 UMLS:C4479637 H1-4-related neurodevelopmental disorder @@ -200081,6 +200389,10 @@ + A form of adrenal Cushing syndrome, an endogenous Cushing syndrome (CS), characterized by chronic over-secretion of cortisol due to a benign adrenal tumor that arises from the adrenal cortex. + ICD-10:E24.8 + ICD10:E24.8 + UMLS:C5816799 CS due to cortisol-producing adrenocortical adenoma Cushing syndrome due to cortisol-producing adrenocortical adenoma @@ -200183,6 +200495,7 @@ + UMLS:C5816798 XX gonadal dysgenesis-deafness syndrome-without neurological manifestations Perrault syndrome type 1 @@ -200203,8 +200516,12 @@ + A rare genetic, peroxisomal disease characterized by chilhood onset progressive spastic paraparesis and ataxia due to PEX 16 deficieny. Additional clinical features include demyelinating and peripheral neuropathies, progressive unsteady gait and limb tremor, dystonia, marked lower limb spasticity, upper limb ataxia, involuntary facial movements, speech disturbance (including cerebellar dysarthria) and cataract. All patients need wheelchair in different periods of their lives depending on the severity of their condition. Cognitive functions are mostly preserved (slow deterioration over time were observed in few cases). + ICD-10:G11.8 ICD-11:8A03.1Y + ICD10:G11.8 ICD11:8A03.1Y + UMLS:C5816797 Mild peroxisomal disorder due to PEX16 deficiency Autosomal recessive ataxia due to PEX16 deficiency @@ -200225,8 +200542,12 @@ + A rare genetic, peroxisomal disease characterized by childhood or adolescence onset slowly progressing cerebellar ataxia and severe axonal sensorimotor polyneuropathy due to PEX 2 deficieny. Patients develop marked brain atrophy including cerebellum, cerebellar peduncles, and bulbar olives. Gait disturbance, moderate truncal ataxia, moderate cerebellar tremor, mild dysarthria, areflexia, strabismus, hypoacusia and nystagmus were also reported. + ICD-10:G11.8 ICD-11:8A03.1Y + ICD10:G11.8 ICD11:8A03.1Y + UMLS:C5816796 Mild peroxisomal disorder due to PEX2 deficiency Autosomal recessive ataxia due to PEX2 deficiency @@ -200286,6 +200607,7 @@ + UMLS:C5816795 XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations Perrault syndrome type 2 @@ -200333,8 +200655,11 @@ + A rare multiple congenital anomalies/dysmorphic syndrome without intellectual disability characterized by congenital heart disease, skeletal and joint abnormalities (including pectus excavatum, scoliosis and hyper-extensibility or contractures in finger joints), variable dysmorphic facial features (notably long face with narrow maxilla and pointed chin) and failure to thrive. Addinitonal clinical features may include gastrointestinal problems, lipodystrophy&#8208;like features, renal hypoplasia, hearing impairment, distinct ocular abnormalities, thin/velvety skin, risk for pneumothorax and genital abnormalities in male. + ICD-10:Q87.8 + ICD10:Q87.8 OMIM:617602 - UMLS:C4539857 + UMLS:C5816735 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome @@ -200352,6 +200677,7 @@ OMIM:616863 + UMLS:C5816734 HAFOUS due to USP7 mutation Hao-Fountain syndrome due to USP7 mutation @@ -200364,6 +200690,9 @@ + A rare genetic intellectual disability syndrome characterized by global developmental delay, intellectual disability, severe speech delay, behavioral abnormalities (including impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors), autism spectrum disorder and mild and variable dysmorphic facies (including deep-set eyes and a prominent nasal septum, extending below the alae nasi) due to point mutation of <i>USP7</i> gene or 16p13.2 microdeletion where USP7 is completely or partially deleted. Behavioral abnormalities are more pronounced in microdeletion. Patients may also have hypotonia, feeding problems, delayed walking with unsteady gait, hypogonadism in males, seizures and ocular anomalies (such as myopia, estropia, strabismus, and nystagmus). + ICD-10:Q87.0 + ICD10:Q87.0 OMIM:616863 UMLS:C5393908 HAFOUS @@ -200413,7 +200742,9 @@ A rare closed dysraphism with stalk characterized by a dorsal midline dermal sinus tract lined by keratinizing stratified squamous epithelium extending to the the intrathecal space. Other components such as hair follicles and shafts, mesenchymal derivatives (blood vessels and fibrous tissue) and occasionally nerve fibers can be observed. Inflamed granulation tissue containing mixed neutrophils, plasma cells, lymphocytes, and histiocytes is consistently found in the tract. It can also be associated with an intradural dermoid cyst. This malformation is at risk to cause intrathecal infections (meningitis, empyema) that justify a prophylactic surgery. - UMLS:C0011599 + ICD-10:Q76.0 + ICD10:Q76.0 + UMLS:C5706141 Dermal sinus tract Spinal dermal sinus @@ -200426,6 +200757,7 @@ A rare group of closed spinal dysraphisms characterized by the presence of a stalk connecting the skin to the underlying spinal cord. The stalk contains variable combinations of non-functional neural tissue, fibrous mesenchymal tissue, and dermal/epidermal elements. + UMLS:C5816733 Dysraphism with stalk @@ -200437,6 +200769,7 @@ A rare dysraphic abnormality characterized by a persistent connection between the neural tissue and overlying skin. The stalk-like connection consists of a fibroneural tract (mainly composed of fibrous attenuated mesenchymal tissue and neural elements without an epithelial lining) connecting the skin lesion to the underlying dorsal surface of the spinal cord. Fibroneural stalk varies in thickness and complexity and they pass through the deep fascia, a bifid lamina/ the interspinous ligament, and the dura. It can be associated with filum anomaly. Chiari II malformation is not present. + UMLS:C5781237 LDM Limited dorsal myeloschisis @@ -200453,6 +200786,8 @@ ICD-11:LB73.0 ICD10:Q76.0 ICD11:LB73.0 + MESH:D016136 + MeSH:D016136 MedDRA:10041525 UMLS:C0080174 Closed spina bifida @@ -200470,6 +200805,7 @@ A rare dysraphism characterized by absence of skin covering, the neural elements are exposed to the external environment and there is herniation of a cerebrospinal fluid filled sac through a posterior spina bifida. It is typically located in the lumbosacral region. Evidence of complete or partial Chiari II malformation is present. + UMLS:C5816732 Open spinal dysraphism with a posterior meningocele @@ -200482,6 +200818,7 @@ A rare group of spinal cord lipoma characterized by the presence of extramedullary lipomatous mass located at any point along the spinal cord with or without a dural defect. + UMLS:C5816731 Dysraphic spinal cord lipoma @@ -200492,7 +200829,8 @@ - A rare group of malformation characterized by the presence of filipomatous mass in direct contact with the spinal cord. It includes dysraphic (extramedullary) spinal cord lipomas and non-dysraphic (intramedullary) spinal cord lipoma. + A rare group of malformation characterized by the presence of lipomatous mass in direct contact with the spinal cord. It includes dysraphic (extramedullary) spinal cord lipomas and non-dysraphic (intramedullary) spinal cord lipoma. + MedDRA:10064898 UMLS:C0347446 Spinal cord lipoma @@ -200505,6 +200843,7 @@ A rare group of malformation characterized by the infiltration of fibrous-fatty tissue in the filum terminale with resultant thickening. The tip of the conus can be normal (pointed) or abnormal (blunted). + UMLS:C5816812 Fibrolipomatous filum anomaly @@ -200516,6 +200855,7 @@ A rare group of dysraphic abnormality characterized by anatomical anomaly of the filum. The filum lacks its normal characteristics (thin, loose extension of the pia mater under the termination of the spinal cord). + UMLS:C5816730 Anomaly of the filum @@ -200528,6 +200868,9 @@ A rare dysraphic spinal cord lipoma characterized by the lipomatous mass extending ventrally to the dorsal root entry zone, indicating a more severe malformation of the spinal cord. The diagnosis can be suggested on imaging but usually confirmed during surgery. + ICD-10:Q76.0 + ICD10:Q76.0 + UMLS:C5816729 Chaotic conus spinal cord lipoma @@ -200539,6 +200882,7 @@ A rare form of extramedullary conus region spinal cord lipoma characterized by its location, extending from the poorly delineated tip of the conus. + UMLS:C5816727 Terminal extramedullary conus spinal cord lipoma @@ -200550,6 +200894,7 @@ A rare form of extramedullary conus region spinal cord lipoma characterized by a location at the posterior surface of the conus and its tip. i.e-"transitional" between posterior and terminal conus region spinal cord lipoma. + UMLS:C5816728 Transitional extramedullary conus spinal cord lipoma @@ -200561,6 +200906,7 @@ A rare form of conus region spinal cord lipoma characterized by its location where the interface between the lipoma and the spinal cord is strictcly above the level of the tip of the conus. The tip of the conus is readily delineated. + UMLS:C5816725 Posterior extramedullary conus spinal cord lipoma @@ -200573,6 +200919,9 @@ A rare closed lipomatous, dysraphic malformation of the lower spinal cord characterized by extramedullary lipomatous mass attached to the conus region. The conus is dysplastic and poorly delineated. Various morphological subtypes are recognized. Possible symptoms include bowel and bladder dysfunction and neuro-orthopedic deformity of the lower limbs. + ICD-10:Q06.8 + ICD10:Q06.8 + UMLS:C5816726 Extramedullary conus spinal cord lipoma @@ -200584,6 +200933,7 @@ A rare non-saccular limited dorsal myeloschisis histologically characterized by skin tissue with a jagged depression of squamous epithelium continued to subcutaneous mature adipose tissue with loose connective tissue. GFAP-immunopositive glial cells are embedded in the subcutaneous lipoma. The extradural and intradural stalk have cord-like fibrocollagenous tissue containing adipose tissue, peripheral nerve fibers, clusters of melanocytes, and skeletal muscle fibers. + UMLS:C5816723 Lipomatous flat LDM Lipomatous flat limited dorsal myeloschisis Lipomatous non-saccular LDM @@ -200598,6 +200948,7 @@ A rare non-saccular limited dorsal myeloschisis, in which the stalk histology is characterized by skin tissue with dermo-epidermal epithelium in continuity with a subcutaneous fibrocollagenous tract containing various ectopic tissues. + UMLS:C5816724 Fibroneural flat LDM Fibroneural flat limited dorsal myeloschisis Fibroneural non-saccular LDM @@ -200613,6 +200964,7 @@ A rare spinal dysraphism characterized by a meningocele, containing a stalk, that is attached to the inner surface of the meningocele. The stalk can be posteriorly fibroneural (saccular limited dorsal myeloschisis) or the spinal cord itself (myelic limited dorsal malformation). + UMLS:C5816721 Saccular spinal dysraphism with a stalk to the dome @@ -200625,7 +200977,9 @@ A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, with abnormal conus shape. The spinal cord is typically attenuated and the limit between its end and the fatty filum is hard to distinguish. There are no additional spinal cord malformation, but it can be associated with vertebral abnormalities, anorectal malformation or other syndromic condition. It is named transitional for its intermediate image between an isolated filum lipoma and a terminal conus region lipoma. - UMLS:C4751188 + ICD-10:Q06.8 + ICD10:Q06.8 + UMLS:C5816722 Isolated transitional filum lipoma @@ -200638,6 +200992,9 @@ A rare dysraphic abnormality characterized by the infiltration of fatty tissue localized in the filum terminale, thickens and loses its flexibility, with normal conus shape, regardless of conus level. There is no other spinal cord malformation associated, but it can be associated with extraspinal malformation (ex: anorectal malformation) or syndromic situation. + ICD-10:Q06.8 + ICD10:Q06.8 + UMLS:C5816720 Lipoma of the filum terminale Isolated filum lipoma @@ -200652,6 +201009,9 @@ A rare closed dysraphism with terminal stalk characterized by persistant rudimentary spinal cord below conus. It contains non-functional neural tissue and is typically isolated. The diagnostic is suggested by attenuated conus without fat, further confirmed by pathological analysis (glioneuronal core with ependyma-lined lumen, nerve roots, and dorsal root ganglia). Differential diagnostic with intraoperative neurophysiological monitoring is mandatory as neuroimaging fails to distinguish it from functional conus. + ICD-10:Q76.0 + ICD10:Q76.0 + UMLS:C5816811 Retained medullary cord @@ -200665,6 +201025,9 @@ A rare closed spinal dysraphism characterized by a myelocystocele at the termination of the spinal cord. It may be an isolated anomaly or be associated with other defects, including sacral agenesis, anorectal and genitourinary anomalies. The conus is not identifiable. The myelocystocele sac may have a significant lipomatous component (terminal lipomyelocystocele). + ICD-10:Q05.9 + ICD10:Q05.9 + UMLS:C5816718 Terminal myelocystocele @@ -200677,6 +201040,9 @@ A rare closed spinal dysraphism characterized by myelocystocele located above the conus region. Also considered as a form of saccular limited dorsal myeloschisis. + ICD-10:Q05.9 + ICD10:Q05.9 + UMLS:C5816719 Non-terminal myelocystocele @@ -200689,6 +201055,9 @@ A rare form of limited dorsal myeloschisis (LDM), characterized by a non saccular cutaneous stigmata (midline skin abnormality classically dimple, pit or sometimes angioma), the stalk is attached to this cutaneous stigmata. Fibroneural stalk varies in thickness and complexity. + ICD-10:Q76.0 + ICD10:Q76.0 + UMLS:C5816717 Flat LDM Non-saccular LDM Non-saccular limited dorsal myeloschisis @@ -200702,7 +201071,12 @@ + ICD-10:I77.8 + ICD-11:BD52.0 + ICD10:I77.8 + ICD11:BD52.0 MedDRA:10086467 + UMLS:C4517096 Segmental arterial mediolysis @@ -200715,6 +201089,9 @@ A rare form of limited dorsal myeloschisis (LDM), characterized by the stalk attached to the apex of a fully epithelialized meningocele. Chiari II malformation is not present. + ICD-10:Q76.0 + ICD10:Q76.0 + UMLS:C5816715 Saccular LDM Saccular limited dorsal myeloschisis @@ -200728,6 +201105,9 @@ A very rare non-dysraphic spinal cord lipoma characterized by being located within the spinal cord. There is no defect in the overlying dura. + ICD-10:Q06.8 + ICD10:Q06.8 + UMLS:C5816716 Intramedullary non-dysraphic spinal cord lipoma @@ -200740,6 +201120,8 @@ A rare lipomatous, dysraphic malformation characterized by attachment to the dorsal surface of the spinal cord but not extending to the conus. It can be associated with others features such as a stalk and vertebral bone abnormalities. + ICD-10:Q76.0 + ICD10:Q76.0 Conus sparing spinal cord lipoma Dorsal spinal cord lipoma @@ -200752,6 +201134,7 @@ A rare lipomatous, dysraphic malformation characterized by lipoma located wholly or partially at the conus. + UMLS:C5816712 Conus spinal cord lipoma @@ -200765,6 +201148,9 @@ A rare intermediate form of open dysraphism between myelomeningocele and saccular limited dorsal myeloschisis without fulfilling the characteristics of one of these two diagnosis, characterized by stretched neurulated spinal cord attached at the dome of a sac. Partial cerebral signs of open dysraphism can be observed and the meningocele is usually poorly epithelialized. + ICD-10:Q06.8 + ICD10:Q06.8 + UMLS:C5816714 MyeLDM Myelic limited dorsal malformation @@ -200777,6 +201163,7 @@ A rare open neural tube defect characterized by no other malformation than myelomeningocele (spina bifida with a neural placode exposed at the top of a non-epidermised dysplasic meninges sac and Chiari II malformation). + UMLS:C5816713 True MMC True myelomeningocele @@ -200789,6 +201176,7 @@ A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myelomeningocele on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myelomeningocele. + UMLS:C5816710 Open split-cord malformation Hemi-myelomeningocele @@ -200801,6 +201189,7 @@ A very rare form of composite dysraphism characterized by the presence of a split cord malformation and a myeloschisis on one of the two hemicords. Hemicords can be in a single dural sac or in two separated dural sacs. Other spinal cord malformations can be associated. Due to the comparable prognosis it is considered as a subtype of myeloschisis. + UMLS:C5816709 Split cord malformation associated with myeloschisis Hemi-myeloschisis @@ -200814,7 +201203,9 @@ A rare form of spina bifida/open neural tube defect (NTD) chacterized by absence of a cystic component, dysplastic meninges and neural placode exposed through a defect in the posterior vertebral arches (spina bifida) that are contiguous with surrounding skin. The placode is at or below the skin plane and is typically associated with a Chiari II malformation. It is usually isolated or rarely associated with split cord malformation. + ICD-10:Q06.8 ICD-11:LA02.Y + ICD10:Q06.8 ICD11:LA02.Y UMLS:C0266507 Myeloschisis @@ -200828,6 +201219,7 @@ A rare open neural tube defect characterized by no other malformation than myeloschisis (spina bifida with a neural placode exposed at or below the skin plane and Chiari II malformation). + UMLS:C5816711 True myeloschisis @@ -200881,6 +201273,7 @@ ICD-11:4A41.0 ICD10:M33.1 ICD11:4A41.0 + UMLS:C5816707 Classical dermatomyositis @@ -200891,6 +201284,9 @@ + MESH:C538250 + MeSH:C538250 + UMLS:C0406645 Dermatomyositis sine myositis Amyopathic dermatomyositis @@ -200906,6 +201302,7 @@ ICD-11:4A41.0 ICD10:M33.1 ICD11:4A41.0 + UMLS:C5816708 Dermatomyositis sine dermatitis Adermatopathic dermatomyositis @@ -200918,7 +201315,10 @@ + A rare non-syndromic esophageal malformation characterized by intrinsic narrowing of the esophagus, caused by congenital malformation of esophageal wall architecture present at birth. Patients manifest dysphagia and progressive vomiting. Esophageal food impaction, failure to thrive or respiratory distress can be present. Symptoms are often attributed to colic or reflux, thus diagnosis is often difficult. + ICD-10:Q39.3 ICD-11:LB12.3 + ICD10:Q39.3 ICD11:LB12.3 MedDRA:10010564 UMLS:C1963580 @@ -200936,7 +201336,9 @@ + ICD-10:K63.1 ICD-11:KB84 + ICD10:K63.1 ICD11:KB84 UMLS:C3897004 FIP @@ -200959,7 +201361,7 @@ ICD-11:1B12.6 ICD10:A18.2 ICD11:1B12.6 - UMLS:C0041316 + UMLS:C5816704 Primary tuberculous lymphadenopathy Primary tuberculous lymphadenitis @@ -201009,6 +201411,8 @@ ICD10:A16.7 ICD10:A16.8 ICD11:1B10 + MESH:D014397 + MeSH:D014397 UMLS:C0041327 Tuberculosis of respiratory system Primary pulmonary tuberculosis @@ -201027,7 +201431,7 @@ ICD-11:1B12.4 ICD10:A18.0, ICD11:1B12.4 - UMLS:C0041324 + UMLS:C5816705 Primary musculoskeletal tuberculosis Primary bone and joint tuberculosis @@ -201045,7 +201449,7 @@ ICD-11:1B12.8 ICD10:A18.4 ICD11:1B12.8 - UMLS:C0041309 + UMLS:C5816706 Primary skin tuberculosis Primary cutaneous tuberculosis @@ -201063,6 +201467,7 @@ ICD-11:1B12.Y ICD10:A18.8 ICD11:1B12.Y + UMLS:C5816701 Multifocal tuberculosis @@ -201079,7 +201484,7 @@ ICD-11:1B12.7 ICD10:A18.3 ICD11:1B12.7 - UMLS:C4543803 + UMLS:C5816702 Primary tuberculosis of the digestive system @@ -201096,6 +201501,8 @@ ICD-11:1B12.5 ICD10:A18.1 ICD11:1B12.5 + MESH:D014401 + MeSH:D014401 UMLS:C0041333 Urogenital tuberculosis Primary genito-urinary tuberculosis @@ -201157,6 +201564,7 @@ OMIM:158810 OMIM:254090 + UMLS:C5816703 COL6-RD Collagen VI-related congenital muscular dystrophy @@ -201187,12 +201595,14 @@ + A form of congenital muscular dystrophy characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, attainment of independent ambulation which is subsequently lost and uniform respiratory insufficiency during the teenage years. ICD-10:G71.2 ICD-11:8C70.6 ICD10:G71.2 ICD11:8C70.6 OMIM:158810 OMIM:254090 + UMLS:C5816698 Intermediate COL6-RD Intermediate collagen VI-related muscular dystrophy @@ -201205,6 +201615,7 @@ OMIM:601356 + UMLS:C5816699 Dysplastic cortical hyperostosis, Al-Gazali type @@ -201216,7 +201627,9 @@ + ICD-10:M85.8 ICD-11:LD24.1Y + ICD10:M85.8 ICD11:LD24.1Y UMLS:C5190839 Dysplastic cortical hyperostosis @@ -201238,10 +201651,12 @@ A rare genetic syndromic intellectual disability characterized by intellectual disabilities/neurodevelopmental disorders associated with developmental delay and various others features such as congenital heart malformation and specific facial features. + ICD-10:Q87.8 + ICD10:Q87.8 OMIM:617360 - UMLS:C4479246 + UMLS:C5816700 CDK13-related disorder - CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome + CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome @@ -201274,16 +201689,17 @@ + A rare bacterial infectious disease transmitted between humans via bites from infected sand flies in high-altitude valleys of the South American Andes, characterized by two disparate syndromes which can arise independently or sequentially. The first, Oroya fever, occurs about 60 days after the fly bite as a severe hemorrhagic fever with high mortality in untreated individuals. The second, chronic phase, termed verruga peruana, can persist for months or years and manifests with endothelial cell-derived, blood-filled tumors developing on the surface of the skin. ICD-10:A44.0 - ICD-11:1C11.00 + ICD-11:1C11.0 ICD10:A44.0 - ICD11:1C11.00 + ICD11:1C11.0 MESH:D001474 MeSH:D001474 UMLS:C0029307 - Bartonellosis due to Bartonella bacilliformis infection + Bartonellosis due to infection with Bartonella bacilliformis Carrion disease - Oroya fever + Bartonella bacilliformis infection @@ -201447,8 +201863,6 @@ - ICD-10:K85 - ICD10:K85 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Recurrent acute pancreatitis true @@ -201602,6 +202016,7 @@ A disorder that belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases. ICD-11:8C20.0 ICD11:8C20.0 + UMLS:C4551551 CMTX X-linked hereditary motor and sensory neuropathy X-linked Charcot-Marie-Tooth disease @@ -201817,7 +202232,11 @@ MeSH:C565735 OMIM:604919 UMLS:C1858042 + Becker melanosis + Becker naevus syndrome Pigmentary hairy epidermal nevus + Pigmented hairy epidermal naevus + Pigmented hairy epidermal nevus Becker nevus syndrome @@ -201837,6 +202256,8 @@ + ICD-10:Q87.5 + ICD10:Q87.5 OMIM:619127 UMLS:C5436867 MADaM @@ -201859,6 +202280,8 @@ + ICD-10:Q77.3 + ICD10:Q77.3 OMIM:617719 UMLS:C4540251 CANT1-related multiple epiphyseal dysplasia @@ -201881,9 +202304,11 @@ + ICD-10:Q87.0 + ICD10:Q87.0 OMIM:600775 - UMLS:C3806917 - Syndromic craniosynostosis related to ERF + UMLS:C5816752 + ERF-related syndromic craniosynostosis Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome @@ -201894,6 +202319,8 @@ + A group of endogenous Cushing syndrome (CS) that may result from excess secretion of cortisol by either a unilateral and benign (adrenocortical adenoma), or malignant (adrenocortical carcinoma) adrenocortical tumor, or nodular adrenocortical disease, including Cushing syndrome due to bilateral macronodular adrenocortical disease (BMAD), isolated micronodular adrenocortical disease (i-MAD) and primary pigmented nodular adrenocortical disease (PPNAD; isolated or in Carney complex). + UMLS:C0342443 Adrenal CS Adrenal Cushing syndrome @@ -201905,6 +202332,7 @@ + UMLS:C5816751 Rare adrenocortical nodular disease with Cushing syndrome as a major feature @@ -201917,7 +202345,9 @@ - UMLS:C4304832 + ICD-10:E24.8 + ICD10:E24.8 + UMLS:C5816750 Isolated PPNAD i-PPNAD Isolated primary pigmented nodular adrenocortical disease @@ -201932,6 +202362,9 @@ + ICD-10:E24.8 + ICD10:E24.8 + UMLS:C5816756 i-MAD Isolated micronodular adrenocortical disease @@ -201950,8 +202383,10 @@ + ICD-10:G11.8 + ICD10:G11.8 OMIM:617804 - UMLS:C4540496 + UMLS:C5816755 DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome DHX30-related neurodevelopmental disorder Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome @@ -201965,7 +202400,9 @@ - UMLS:C0266363 + ICD-10:Q52.8 + ICD10:Q52.8 + UMLS:C5816754 Isolated PUGS Isolated persistent urogenital sinus @@ -201986,8 +202423,11 @@ + A rare neurodevelopmental syndrome characterized by global developmental delay, intellectual disability of varying severity or learning difficulties (e.g. dysphasia, dyspraxia, dyscalculia, dysgraphia) and behavioral disorders (stereotypies, autism spectrum disorder, impulsiveness or intolerance to frustration, self or hetero aggression). Additional clinical features include weight disorders (overweight/obesity) and eating behaviour disorders (including hyperphagia, tachyphagia, obsessive food compulsions, epilepsy), non-specific magnetic resonance imaging (MRI) abnormalities, ophthalmologic abnormalities, sleep disorders and non-specific dysmorphism. Endocrine abnormalities are rarely associated. + ICD-10:Q87.1 + ICD10:Q87.1 OMIM:616521 - UMLS:C4225296 + UMLS:C5816753 MYT1L-related Prader-Willi-like syndrome MYT1L-related developmental delay-intellectual disability-obesity syndrome @@ -202006,8 +202446,11 @@ + A rare combined T and B cell immunodeficiency characterized by early-onset of recurrent severe bacterial, viral, and fungal infections. Many patients present failure to thrive. Occurrence of lymphoma, as well as neurologic features, have been reported in some cases. Laboratory examination shows decreased CD4+ T cells and variable B cell lymphopenia and hypogammaglobulinemia. + ICD-10:D81.8 + ICD10:D81.8 OMIM:619164 - UMLS:C5543004 + UMLS:C5816748 Combined immunodeficiency due to FCHO1 deficiency @@ -202026,6 +202469,9 @@ + A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by complex heart defects (including hypoplastic left heart, aortic valve atresia, mitral valve atresia, tubular hypoplasia of the ascending aorta, Scimitar syndrome), external urogenital abnormalities (including ambigous external genitalia, poorly defined urethral meatus, blind-ending vagina in females or bifid scrotum, penoscrotal hypospadias with micropenis and cryptorchidism in males). Congenital diaphragmatic hernia, pulmonary hypoplasia and intestinal malrotation are other major clinical features. + ICD-10:Q87.8 + ICD10:Q87.8 OMIM:618280 UMLS:C4748946 MYRF-related cardiac urogenital syndrome @@ -202047,10 +202493,14 @@ + A rare ophthalmic disorder characterized by periodic inflammatory attacks of the cornea manifesting as unilateral ocular pain, conjunctival hyperemia, photophobia and epiphora lasting for 1 to 3 days, followed by blurred vision for several weeks. + ICD-10:H16.8 + ICD10:H16.8 OMIM:148200 UMLS:C1835697 KFH - Keratoendotheliitis fugax hereditaria + Keratoendotheliitis fugax hereditaria + Keratitis fugax hereditaria @@ -202062,7 +202512,11 @@ - UMLS:C0410439 + ICD-10:O26.8 + ICD-11:FB83.1Y + ICD10:O26.8 + ICD11:FB83.1Y + UMLS:C5782297 Idiopathic premenopausal osteoporosis associated with pregnancy Osteoporosis of pregnancy PAO @@ -202087,7 +202541,10 @@ A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC. + ICD-10:E83.1 + ICD10:E83.1 OMIM:606069 + UMLS:C5816749 SLC40A1-related hemochromatosis @@ -202099,6 +202556,12 @@ + ICD-10:Q89.4 + ICD-11:LD2G + ICD10:Q89.4 + ICD11:LD2G + MESH:D014428 + MeSH:D014428 MedDRA:10010688 UMLS:C0041428 Siamese twins @@ -202236,6 +202699,7 @@ + UMLS:C5816743 Rare scleritis @@ -202255,6 +202719,8 @@ A rare disorder of iron metabolism and transport characterized by iron retention in macrophages (particularly of the liver and spleen), with a clinical picture of mild anemia and elevated of serum ferritin levels. Ferroportin disease is distinct from hemochromatosis as it is not associated with high transferrin saturation or low hepcidin concentrations. + ICD-10:E83.1 + ICD10:E83.1 OMIM:606069 Ferroportin disease @@ -202267,6 +202733,7 @@ A group of genetic disorders of iron overload comprising the rarer forms of hemochromatosis (HC), characterized by a phenotype of severe tissue iron deposition. These rare forms are HJV or HAMP-related hemochromatosis, TFR2-related hemochromatosis and SLC40A1-related hemochromatosis. + UMLS:C5816745 Non-HFE-related hemochromatosis @@ -202303,7 +202770,9 @@ A rare subtype of hemochromatosis characterized by the combination of pathogenic variants in two genes involved in iron metabolism (usually a combination of HFE and non-HFE mutations), where the classical HFE-related hemochromatosis is not enough to fully explain the clinical picture of the patient. - UMLS:C3150862 + ICD-10:E83.1 + ICD10:E83.1 + UMLS:C5816744 Digenic hemochromatosis @@ -202315,6 +202784,9 @@ + ICD-10:H15.0 + ICD10:H15.0 + UMLS:C5816746 Infectious scleritis @@ -202326,6 +202798,10 @@ + A rare form of scleritis characterized by tender or painful, violet-blueish eye, with edema and injection of deep scleral vessels, in the absence of infection or systemic autoimmune diseases. It can be unilateral or bilateral. Other ocular signs depend on the localisation (anterior or posterior) and on the type of scleritis (diffuse, nodular or necrotizing). Extension to other layers of the eye and to peri-ocular tissues as well as visual impairment are potential complications. Idiopathic scleritis is more frequent in children than in adults. + ICD-10:H15.0 + ICD10:H15.0 + UMLS:C5816747 Idiopathic scleritis @@ -202337,7 +202813,11 @@ + A rare scleritis characterized by severe ocular inflammation of sclera associated with an underlying systemic inflammatory condition, most often rheumatoid arthritis, granulomatosis with polyangiitis, but also seronegative spondyloarthropathies, vasculitides and systemic lupus erythematosus. Ocular presentation is a tender or painful, violet-blueish eye, with injection of deep scleral vessels. It can be unilateral or bilateral. Immune-mediated scleritis is more often granulomatous and/or necrotizing. Systemic clinical signs depend on the underlying disease. + ICD-10:H15.0 + ICD10:H15.0 MedDRA:10087281 + UMLS:C5578029 Immune-mediated scleritis @@ -202349,6 +202829,10 @@ + ICD-10:H34.1 + ICD-11:9B74.0 + ICD10:H34.1 + ICD11:9B74.0 UMLS:C0007688 CRAO Central retinal artery occlusion @@ -202362,6 +202846,10 @@ + A rare neurologic disease with psychiatric involvement characterized by a cluster of signs and symptoms of catatonia that is not associated with any underlying psychiatric or organic disorder or intoxication. + ICD-10:F20.2 + ICD10:F20.2 + UMLS:C5816742 Idiopathic catatonic syndrome Isolated catatonia Isolated catatonic syndrome @@ -202376,6 +202864,9 @@ + ICD-10:Q32.4 + ICD10:Q32.4 + UMLS:C5816737 Non-syndromic bridging bronchus @@ -202421,6 +202912,9 @@ + ICD-10:Q32.4 + ICD10:Q32.4 + UMLS:C5816738 Non-syndromic CBA Non-syndromic congenital bronchial atresia @@ -202433,6 +202927,7 @@ + UMLS:C5816739 Bronchial malformation @@ -202443,6 +202938,7 @@ + UMLS:C5816740 Rare adrenocortical nodular disease @@ -202454,7 +202950,9 @@ - UMLS:C3164781 + ICD-10:Q32.4 + ICD10:Q32.4 + UMLS:C5816741 Left bronchial isomerism without heterotaxy Isolated left bronchial isomerism @@ -202466,6 +202964,7 @@ + UMLS:C5816736 CPP in boy CPP in male Central precocious puberty in boy @@ -202682,6 +203181,7 @@ + UMLS:C5816766 Gonadotropin-dependant precocious puberty Rare CPP Rare central precocious puberty @@ -202695,6 +203195,7 @@ + UMLS:C5816764 Rare CPP in female Rare central precocious puberty in girl Rare central precocious puberty in female @@ -202721,18 +203222,15 @@ - - - - - - + ICD-10:E22.8 + ICD10:E22.8 + UMLS:C5816765 Genetic CPP in female Genetic CPP in girl Genetic central precocious puberty in girl @@ -202747,6 +203245,9 @@ + ICD-10:E22.8 + ICD10:E22.8 + UMLS:C5816762 Secondary CPP in female Secondary CPP in girl Secondary central precocious puberty in girl @@ -202761,6 +203262,9 @@ + ICD-10:E22.8 + ICD10:E22.8 + UMLS:C5816763 Primary CPP in boy Primary CPP in male Primary central precocious puberty in boy @@ -202775,6 +203279,9 @@ + ICD-10:E22.8 + ICD10:E22.8 + UMLS:C5816760 Secondary CPP in boy Secondary CPP in male Secondary central precocious puberty in boy @@ -202814,6 +203321,7 @@ OMIM:176400 + UMLS:C5816761 Genetic CPP in boy Genetic CPP in male Genetic central precocious puberty in boy @@ -202827,6 +203335,7 @@ + UMLS:C5816759 Non-genetic CPP in boy Non-genetic CPP in male Non-genetic central precocious puberty in boy @@ -202840,6 +203349,7 @@ + UMLS:C5816758 Genetic CPP Genetic central precocious puberty @@ -202851,6 +203361,7 @@ + UMLS:C5816757 Rare peripheral precocious puberty in female @@ -202860,11 +203371,9 @@ - ICD-10:H81.1 - ICD10:H81.1 - Congenital idiopathic nystagmus - Infantile nystagmus syndrome - Motor congenital nystagmus + NON RARE IN EUROPE: Congenital idiopathic nystagmus + NON RARE IN EUROPE: Infantile nystagmus syndrome + NON RARE IN EUROPE: Motor congenital nystagmus This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Idiopathic infantile nystagmus true @@ -202912,6 +203421,15 @@ + + + + + + + A rare overgrowth/obesity syndrome characterized by mild developmental delay (notably speech delay), behaviour abnormalities (including autistic or attention deficit hyperactivity disorder features, hypersociability/ overfriendliness), overweight/obesity and mild dysmorphic features (including deep set eyes, broad bulbous nasal tip, large everted ears and thin upper lip). Other clinical features include variable and mild intellectual diability when present, broad short hands and feet. + ICD-10:Q87.3 + ICD10:Q87.3 OMIM:620439 Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome @@ -202921,14 +203439,14 @@ - - - + MESH:D052958 MeSH:D052958 UMLS:C0520720 - Tarlov cyst - Perineural cyst + NON RARE IN EUROPE: Tarlov cyst + This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. + NON RARE IN EUROPE: Perineural cyst + true @@ -202962,6 +203480,9 @@ + A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital heart defect (including atrial or ventricular septal defects and aortic coarctation), cleft palate, and variable degree of developmental delay and intellectual disability. Most patients reported to also have an autism spectrum disorder. Overlapping facial features were reported in some patients including broad forehead with high anterior hairline, finely arched eyebrows, short philtrum, thin or tented upper lip. Other clinical features may involve mild distal skeletal abnormalities, hypotonia, hearing loss, feeding problems and skin abnormalities. + ICD-10:Q87.8 + ICD10:Q87.8 Cleft palate-congenital heart defect-intellectual disability syndrome @@ -202982,6 +203503,8 @@ + ICD-10:D84.8 + ICD10:D84.8 OMIM:150550 PFITS Periodic fever-immunodeficiency-thrombocytopenia syndrome @@ -202995,7 +203518,11 @@ - Non-syndromic accessory kidney + ICD-10:Q63.0 + ICD10:Q63.0 + UMLS:C0266298 + Non-syndromic accessory kidneys + Non-syndromic accessory kydney Non-syndromic supernumerary kidney Non-syndromic supernumerary kidneys @@ -203009,7 +203536,15 @@ + + + + + + A rare genetic neurological disorder characterized by congenital or early-onset sensorineural deafness and adult-onset progressive leukoencephalopathy. Progressive cognitive impairment and behavioral abnormalities are observed in the second or third decade of life, sometimes preceded by mild developmental delay and learning difficulties. Visual impairment in adult age has been reported. No central nervous system calcification is reported. + ICD-10:G37.8 + ICD10:G37.8 Adult-onset progressive leukoencephalopathy-early-onset hearing loss Adult-onset progressive leukoencephalopathy-early-onset deafness @@ -203022,7 +203557,9 @@ - Follicular T-Cell Lymphoma + ICD-10:C82.7 + ICD10:C82.7 + Follicular T-cell Lymphoma Follicular helper T-cell lymphoma, follicular type Nodal T-cell lymphoma with TFH phenotype Nodal TFH lymphoma, follicular type @@ -203039,6 +203576,9 @@ + ICD-10:C86.2 + ICD10:C86.2 + UMLS:C3272525 Enteropathy-associated T-cell lymphoma type 2 MEITL Monomorphic epitheliotropic intestinal T-cell lymphoma @@ -203052,6 +203592,8 @@ + ICD-10:Q26.8 + ICD10:Q26.8 SVCA Primary superior vena cava aneurysm @@ -203064,6 +203606,8 @@ + ICD-10:Q26.8 + ICD10:Q26.8 Primary inferior vena cava aneurysm @@ -203075,6 +203619,8 @@ + ICD-10:J38.7 + ICD10:J38.7 iSGS Idiopathic subglottic stenosis @@ -203201,7 +203747,7 @@ - A very rare disorder characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure. + A rare developmental defect during embryogenesis characterized by abnormal development and enlargement of the cerebellum, and an increased intracranial pressure. The tumors can be characterized by the abnormal growth of ganglion cells that regulate activities in the cerebellum. ICD-10:Q04.8 ICD-11:2A00.21 ICD10:Q04.8 @@ -203290,7 +203836,7 @@ - Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome is characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. + A rare neurologic disease characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period. ICD-10:P70.2 ICD-11:KB60.2Y ICD10:P70.2 @@ -203346,6 +203892,8 @@ + ICD-10:N61 + ICD10:N61 Lymphocytic mastopathy Sclerosing lymphocytic lobulitis Lymphocytic mastitis @@ -203359,6 +203907,14 @@ + + + + + + + ICD-10:H35.5 + ICD10:H35.5 OMIM:617547 Cone rod dystrophy-short stature syndrome @@ -203378,6 +203934,9 @@ + A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, speech delay and variable degree of intellectual disability (mostly mid-to-moderate but some patients may also have normal intelligence) due to CHD4 gene mutations. Even though clinical manifestations are significantly variable among patients, most patients manifest dysmorphic facial features (could sometimes include macrocephaly), congenital heart defects, hypotonia and opthalmologic abnormalities. Other clinical features may include brain structure anomalies, skeletal anomalies, hearing impairment and gonadal abnormalities. + ICD-10:Q87.8 + ICD10:Q87.8 OMIM:617159 CHD4-related neurodevelopmental syndrome Sifrim-Hitz-Weiss syndrome @@ -203426,6 +203985,8 @@ + ICD-10:G71.0 + ICD10:G71.0 OMIM:620375 LGMD, type 28 LGMDR28 @@ -203442,6 +204003,14 @@ + + + + + + + ICD-10:G90.8 + ICD10:G90.8 Marsili syndrome Congenital insensitivity to pain syndrome, Marsili type @@ -203456,10 +204025,12 @@ - + + ICD-10:D81.8 + ICD10:D81.8 OMIM:301082 X-linked CID due to SASH3 deficiency X-linked combined immunodeficiency due to SASH3 deficiency @@ -203480,6 +204051,10 @@ + ICD-10:Q87.0 + ICD10:Q87.0 + OMIM:617450 + UMLS:C4479517 Developmental delay-behavorial problems-small hands and feet-cyclic vomiting-dysmorphic features syndrome JDVS Jansen-de Vries syndrome @@ -203499,7 +204074,10 @@ + ICD-10:E71.1 + ICD10:E71.1 OMIM:616277 + UMLS:C4225391 Crotonase deficiency ECHS1D Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency @@ -203823,6 +204401,8 @@ + ICD-10:I77.8 + ICD10:I77.8 Degos disease Köhlmeier-Degos disease Atrophic papulosis @@ -203848,6 +204428,8 @@ + ICD-10:Q76.0 + ICD10:Q76.0 SSD Segmental spinal dysgenesis @@ -203863,8 +204445,16 @@ + + + + + + + ICD-10:Q87.8 + ICD10:Q87.8 OMIM:617641 - PBX1-related CAKUT syndrome + PBX1-related syndromic CAKUT PBX1-related congenital anomalies of kidney and urinary tract syndrome @@ -203877,6 +204467,14 @@ + + + + + + + ICD-10:Q87.0 + ICD10:Q87.0 OMIM:618604 Snijders Blok-Fisher syndrome Intellectual disability-cupped ears syndrome @@ -203887,16 +204485,10 @@ - - - - - - - - OMIM:618493 - HIDEA syndrome - Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome + + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome + OBSOLETE: Hypotonia-hypoventilation-intellectual disability-dysautonomia-epilepsy-eye abnormalities syndrome + true @@ -203910,6 +204502,9 @@ + ICD-10:Q92.3 + ICD10:Q92.3 + OMIM:618815 1p36.33 duplication syndrome @@ -203922,11 +204517,20 @@ + + + + + + + ICD-10:D82.4 + ICD10:D82.4 OMIM:619751 AR CID due to complete GP130 deficiency AR CID due to complete IL6ST deficiency Autosomal recessive combined immunodeficiency due to complete IL6 signal transducer protein deficiency Autosomal recessive combined immunodeficiency due to complete glycoprotein 130 deficiency + Stüve-Wiedemann syndrome type 2 Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency @@ -203940,6 +204544,14 @@ + + + + + + + ICD-10:D82.4 + ICD10:D82.4 OMIM:618523 AR CID due to partial GP130 deficiency AR CID due to partial IL6ST deficiency @@ -203956,6 +204568,14 @@ + + + + + + + ICD-10:D82.4 + ICD10:D82.4 OMIM:619752 AD CID due to partial GP130 deficiency AD CID due to partial IL6ST deficiency @@ -203974,6 +204594,14 @@ + + + + + + + ICD-10:D82.4 + ICD10:D82.4 OMIM:618944 AR CID due to IL6R deficiency Autosomal recessive combined immunodeficiency due to IL6 receptor protein deficiency @@ -203988,6 +204616,12 @@ + A rare central nervous system embryonal tumor characterized by embryonal cells arranged in multilayered rosettes and displaying one of three morphological patterns: embryonal tumor with abundant neuropil and true rosettes, ependymoblastoma, or medulloepithelioma. The tumors typically have a C19MC alteration or (rarely) a <i>DICER1</i> mutation and correspond to WHO grade IV. They are mostly localized intracranially, rarely in the spinal cord, and commonly cause signs and symptoms of elevated intracranial pressure, sometimes seizures and focal neurological signs. Most cases occur in children during the first two years of life. + ICD-10:C22.7 + ICD-11:XH0KZ2 + ICD10:C22.7 + ICD11:XH0KZ2 + UMLS:C5575350 ETMR Embryonal tumor with multilayered rosettes @@ -204088,6 +204722,14 @@ + + + + + + + ICD-10:D82.4 + ICD10:D82.4 AD-CID due to ERBIN deficiency Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency Autosomal dominant combined immunodeficiency due to ERBIN deficiency @@ -204100,6 +204742,7 @@ + A rare endocrine disease characterized by an excessive or uncontrolled insulin secretion and recurrent episodes of hypoglycemia that can result in neurological sequelae if left untreated. There are two forms according to the response to first line treatment: diazoxide-sensitive and diazoxide-resistant hyperinsulinism; and three histopathological forms: focal, diffuse and atypical forms. Focal forms are only observed in early-onset cases of diazoxide unresponsive patients. MESH:D044903 MeSH:D044903 @@ -204252,19 +204895,16 @@ - - - - - - A rare syndromic trigonocephaly characterized by marked malformations of the head and face (essentially acrocephaly), broad depressed nasal bridge, narrow maxillae, abnormalities of the hands and feet (polydactyly, brachydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), obesity and congenital heart disease. This disease is considered a variant of Carpenter syndrome without intellectual disability. There have been no further descriptions in the literature since 1992. + ICD-10:Q87.0 ICD10:Q87.0 OMIM:201020 UMLS:C0265303 ACPS4 Acrocephalopolysyndactyly type 4 + This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Carpenter syndrome Goodman syndrome + true @@ -204292,6 +204932,10 @@ + ICD-10:Q93.5 + ICD10:Q93.5 + OMIM:614541 + UMLS:C3281152 16q22 deletion syndrome @@ -204303,6 +204947,8 @@ + ICD-10:G90.0 + ICD10:G90.0 Idiopathic-SFN Idiopathic small fibers neuropathy @@ -204315,6 +204961,8 @@ + ICD-10:Q25.7 + ICD10:Q25.7 Isolated anomalous left pulmonary artery Isolated left pulmonary artery sling LPA @@ -204331,6 +204979,9 @@ + ICD-10:M32.8 + ICD10:M32.8 + UMLS:C0406637 Rowell syndrome @@ -204342,7 +204993,11 @@ - Peri-ocular sebaceous carcinoma + ICD-10:D04.1 + ICD-11:2C33 + ICD10:D04.1 + ICD11:2C33 + UMLS:C4525405 Eyelid sebaceous carcinoma @@ -204354,6 +205009,10 @@ + ICD-10:Q87.1 + ICD10:Q87.1 + OMIM:618724 + HESJAS Heyn-Sproul-Jackson syndrome Microcephaly-short stature-intellectual disability syndrome DNMT3A-related microcephalic dwarfism @@ -204367,6 +205026,9 @@ + ICD-10:Y83.0 + ICD10:Y83.0 + UMLS:C5574736 BOS Bronchiolitis obliterans syndrome Transplant-related bronchiolitis obliterans @@ -204380,6 +205042,8 @@ + ICD-10:J44.8 + ICD10:J44.8 Non-transplant-related bronchiolitis obliterans @@ -204392,6 +205056,15 @@ + + + + + + + ICD-10:G60.0 + ICD10:G60.0 + OMIM:620402 COQ7-related distal hereditary motor neuropathy @@ -204405,8 +205078,11 @@ - + + ICD-10:Q87.0 + ICD10:Q87.0 + OMIM:175700 GCP-CGS Greig cephalopolysyndactyly-contiguous gene syndrome @@ -204419,6 +205095,11 @@ + ICD-10:L90.3 + ICD-11:EE7Y + ICD10:L90.3 + ICD11:EE7Y + UMLS:C3887897 Atrophoderma of Pasini and Pierini @@ -204431,8 +205112,19 @@ + + + + + + + ICD-10:D81.8 + ICD10:D81.8 + OMIM:617780 + CIMAH Combined immunodeficiency-megaloblastic anemia with or without hyperhomocysteinemia - Methylenetetrahydrofolate dehydrogenase 1 deficiency + Methylenetetrahydrofolate dehydrogenase 1 deficiency + Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency @@ -204444,6 +205136,9 @@ + ICD-10:Q87.0 + ICD10:Q87.0 + OMIM:617330 Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome @@ -204455,6 +205150,11 @@ + ICD-10:B66.5 + ICD-11:1F83 + ICD10:B66.5 + ICD11:1F83 + UMLS:C0015656 Fasciolopsiasis @@ -204466,6 +205166,11 @@ + ICD-10:B66.4 + ICD-11:1F85 + ICD10:B66.4 + ICD11:1F85 + UMLS:C0030424 Paragonimiasis @@ -204477,6 +205182,11 @@ + ICD-10:B66.1 + ICD-11:1F80 + ICD10:B66.1 + ICD11:1F80 + UMLS:C0009021 Clonorchiasis @@ -204489,11 +205199,19 @@ - - Early-onset autoimmune disorder related to dedicator of cytokinesis 11 protei - Early-onset autoimmune disorder due to DOCK11 partial deficiency + + + + + + + ICD-10:D89.8 + ICD10:D89.8 + OMIM:301109 + Early-onset immune dysregulation with autoimmunity due to partial dedicator of cytokinesis 11 protein deficiency + Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency @@ -204507,6 +205225,9 @@ + ICD-10:D89.8 + ICD10:D89.8 + OMIM:301109 Early-onset immune dysregulation due to dedicator of cytokinesis 11 protein complete deficiency Early-onset immune dysregulation due to DOCK11 complete deficiency @@ -204555,6 +205276,393 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + PRC-2 complex-related overgrowth spectrum + + + + + + + + + + + + + + + + + ICD-10:Q87.3 + ICD10:Q87.3 + OMIM:617561 + UMLS:C4479654 + EED-related overgrowth syndrome + Cohen-Gibson syndrome + + + + + + + + + + + + + + + + + ICD-10:Q87.3 + ICD10:Q87.3 + OMIM:618786 + UMLS:C5394073 + SUZ12-related overgrowth syndrome + Imagawa-Matsumoto syndrome + + + + + + + + + + + + + + + + + + + ICD-10:Q04.8 + ICD10:Q04.8 + OMIM:618577 + RAC3-related syndrome + Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome + + + + + + + + + + Isolated single optic neuritis + SION + Single isolated optic neuritis + + + + + + + + + + Isolated relapsing optic neuritis + Isolated relapsing optic neuropathy + RION + Relapsing isolated optic neuritis + + + + + + + + + + + + + + OMIM:619695 + UMLS:C5562061 + NSD2-related syndrome + Rauch-Steindl syndrome + + + + + + + + + + + + + + + + + + ICD-10:E80.2 + ICD-11:5C58.1Y + ICD10:E80.2 + ICD11:5C58.1Y + OMIM:618892 + UMLS:C0342859 + Harderoporphyria + + + + + + + + + + EPP + Erythropoietic porphyria + + + + + + + + + + + UMLS:C0162533 + Hepatic porphyria + + + + + + + + + + Hepatic cutaneous porphyria + + + + + + + + + + + + + + + + + + + + ICD-10:Q87.1 + ICD10:Q87.1 + OMIM:617164 + ARCN1-related syndrome + Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome + + + + + + + + + + + ICD-10:A28.2 + ICD-11:1B9A + ICD10:A28.2 + ICD11:1B9A + UMLS:C0043410 + Y. pseudotuberculosis infection + Yersinia pseudotuberculosis infection + + + + + + + + + + Rare yersiniosis + + + + + + + + + + + ICD-10:D48.7 + ICD10:D48.7 + UMLS:C4761284 + OSSN + Ocular surface squamous neoplasia + + + + + + + + + + A rare bacterial infectious disease characterized by severe acute hemolytic anemia, fever, malaise, myalgia, headache, tachycardia, jaundice, and hepatomegaly occurring around 60 days after the bite of a sand fly infected with <i>Bartonella bacilliformis</i>. Complications are common and include secondary infections and cardiovascular and neurological problems. Fatality rates are high without antimicrobial intervention. + ICD-10:A44.0 + ICD-11:1C11.00 + ICD10:A44.0 + ICD11:1C11.00 + Oroya fever + + + + + + + + + + A rare bacterial infectious disease characterized by development of endothelial cell-derived, blood-filled tumors on the surface of the skin during the chronic phase of infection with <i>Bartonella bacilliformis</i>. The lesions can persist for months to years and may cause pain and scarring due to ulceration. They are classified as miliary (multiple red papules of <3 mm in diameter), mular (blood-filled nodules), and diffuse (groups of subdermal nodules >5 mm in diameter). Eruptions may be accompanied by fever and malaise, lymphadenopathy, acute bone and joint pains, and headache. Fatality rates during this phase are low. + ICD-10:A44.1 + ICD-11:1C11.01 + ICD10:A44.1 + ICD11:1C11.01 + UMLS:C0042552 + Peruvian warts + Verruga peruana + + + + + + + + + + + + + + + + + + + + + ICD-10:Q87.5 + ICD10:Q87.5 + OMIM:619322 + LEMD2-associated nuclear envelopathy with early progeroid appearance + Marbach-Rustad progeroid syndrome + Wormian bones-micrognathia-abnormal dentition-progeroid syndrome + + + + + + + + + + + + + + + + + + + + ICD-10:Q87.8 + ICD10:Q87.8 + OMIM:619539 + PRR12-related neuroocular syndrome + Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome + + + + + + + + + + + ICD-10:A24.0 + ICD10:A24.0 + UMLS:C0017589 + Burkholderia mallei infection + Equinia + Malleus + Glanders + + + + + + + + + + + + + + + + + + + ICD-10:H91.8 + ICD10:H91.8 + OMIM:619616 + Neurodevelopmental disorder with hearing loss and spastic quadriplegia + Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome + Sensorineural hearing loss-spastic tetraplegia-intellectual disability syndrome + Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome + + + + @@ -204577,6 +205685,78 @@ + + + + + + + + + + + + OMIM:619911 + NR4A2-related neurodevelopmental syndrome + Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation + + + + + + + + + + + + ICD-10:G24.1 + ICD10:G24.1 + OMIM:619911 + Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome + + + + + + + + + + + + + + + + + + + ICD-10:Q87.0 + ICD10:Q87.0 + AMOTL1-related syndrome + Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome + + + + + + + + + + + ICD-10:A70 + ICD10:A70 + UMLS:C0029291 + Ornithosis + Parrot disease + Parrot fever + Psittacosis + + + + @@ -204625,6 +205805,37 @@ + + + + + + + + + ICD-10:D52.8 + ICD10:D52.8 + OMIM:601775 + OMIM:620603 + Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency + + + + + + + + + + + ICD-10:C18.8 + ICD10:C18.8 + OMIM:619975 + MBD4-related tumor predisposition syndrome + + + + @@ -204650,6 +205861,509 @@ + + + + + + + ICD-10:Q93.5 + ICD-11:LD44.NY + ICD10:Q93.5 + ICD11:LD44.NY + OMIM:606232 + 22q13.3 deletion + Chromosome 22q13.3 deletion syndrome + Phelan-McDermid syndrome due to 22q13.3 deletion + + + + + + + + + + + + + + + + ICD-10:Q93.5 + ICD-11:LD44.NY + ICD10:Q93.5 + ICD11:LD44.NY + OMIM:606232 + Phelan-McDermid syndrome due to SHANK3 mutation + + + + + + + + + + + + + + + + + + ICD-10:Q87.0 + ICD10:Q87.0 + OMIM:618829 + Nabais Sa-de Vries type 2 syndrome + Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome + + + + + + + + + + + + + + + + + + + + ICD-10:Q87.0 + ICD10:Q87.0 + OMIM:618828 + Microcephaly-deafness-facial dysmorphism-intellectual disability syndrome + Nabais Sa-de Vries type 1 syndrome + Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome + + + + + + + + + + + + + + + + + + + + ICD-10:G71.0 + ICD10:G71.0 + OMIM:617404 + INPP5K-related syndrome + Congenital muscular dystrophy-cataract-intellectual disability syndrome + + + + + + + + + + + + + + + + + + + ICD-10:Q87.0 + ICD10:Q87.0 + OMIM:620073 + HNRNPR-related neurodevelopmental disorder + Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome + + + + + + + + + + + + + + + + + + ICD-10:Q87.5 + ICD10:Q87.5 + OMIM:300986 + HNRNPH2-Related Neurodevelopmental Disorder + Neurodevelopmental delay-intellectual disability-skeletal defects syndrome + + + + + + + + + + + + + + + + + + + ICD-10:Q87.8 + ICD10:Q87.8 + OMIM:620083 + HNRPH1-related neurodevelopmental disorder + Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects + Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome + + + + + + + + + + + + + + + + + + + + ICD-10:E76.2 + ICD-11:5C56.3Y + ICD10:E76.2 + ICD11:5C56.3Y + OMIM:619698 + Mucopolysaccharidosis type X, MSP type X,MPS10 Mucopolysaccharidosis due to ARSK deficiency + Mucopolysaccharidosis type 10 + + + + + + + + + + + ICD-10:G93.4 + ICD10:G93.4 + Hippocampal memory defect leukoencephalopathy + White matter hyperintensities-Episodic memory defect leukoencephalopathy + Episodic memory defect leukoencephalopathy + + + + + + + + + + + + + + + + + + ICD-10:Q87.8 + ICD10:Q87.8 + OMIM:619312 + Radio-Tartaglia syndrome + SPEN-related neurodevelopmental disorder + Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome + + + + + + + + + + + ICD-10:G50.8 + ICD-11:8B82.Z + ICD10:G50.8 + ICD11:8B82.Z + MESH:D013547 + MeSH:D013547 + UMLS:C0162473 + Auriculo-temporal syndrome + Auriculotemporal syndrome + Baillarger syndrome + Dupuy syndrome + Gustatory hyperhidrosis + Frey syndrome + + + + + + + + + + + ICD-10:M43.8 + ICD10:M43.8 + UMLS:C0263885 + Atlantoaxial non-traumatic subluxation + Grisel syndrome + + + + + + + + + + + + + + + + + ICD-10:G93.8 + ICD10:G93.8 + OMIM:614255 + Neurodegeneration-spasticity-cerebellar atrophy-cortical visual impairment syndrome + NESCAV syndrome + + + + + + + + + + + ICD-10:Q40.2 + ICD10:Q40.2 + Stomach duplication + Gastric duplication + + + + + + + + + + + + ICD-10:Q44.1 + ICD-11:LB20.1Y + ICD10:Q44.1 + ICD11:LB20.1Y + Gallbladder duplication + + + + + + + + + + + ICD-10:Q43.4 + ICD10:Q43.4 + Duplication of the colon + Colonic duplication + + + + + + + + + + + ICD-10:Q40.2 + ICD10:Q40.2 + Congenital double pylorus + Duplication cyst of the pyloric canal + Duplication cyst of the pylorus + Pyloric duplication + + + + + + + + + + + ICD-10:Q43.4 + ICD-11:LB15.Y + ICD10:Q43.4 + ICD11:LB15.Y + Small bowel duplication + Small intestine duplication + + + + + + + + + + ICD-10:Q43.4 + ICD-11:LB14 + ICD10:Q43.4 + ICD11:LB14 + Duodenal duplication + + + + + + + + + + Jujeno-ileal duplication + + + + + + + + + + + ICD-10:O43.2 + ICD-11:JA8A.2 + ICD10:O43.2 + ICD11:JA8A.2 + AIP + Abnormally invasive placenta + PAI + PAS + Placenta accreta spectrum + Placenta accreta spectrum disorder + + + + + + + + + + + + + + + + + + + ICD-10:Q87.0 + ICD10:Q87.0 + OMIM:620141 + ARPC4-related syndrome + Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome + + + + + + + + + + + ICD-10:O69.4 + ICD-10:P02.6 + ICD-10:P50.0 + ICD-11:JB08.3 + ICD-11:KA03.3 + ICD-11:KA80.0 + ICD10:O69.4 + ICD10:P02.6 + ICD10:P50.0 + ICD11:JB08.3 + ICD11:KA03.3 + ICD11:KA80.0 + Vasa previa + + + + + + + + + + + + + + + + + + ICD-10:Q87.0 + ICD10:Q87.0 + OMIM:618092 + Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome + + + + + + + + + + AMKL in adult + AML M7 in adult + Acute megakaryocytic leukemia in adult + Acute myeloid leukemia M7 in adult + Acute megakaryoblastic leukemia in adult + + + + @@ -204722,6 +206436,391 @@ + + + + + + + ICD-10:Q35.5 + ICD10:Q35.5 + Combined form of soft and hard cleft palate + Isolated cleft of the soft and hard palate + Soft and hard cleft palate + + + + + + + + + + + + + ICD-10:Q77.7 + ICD10:Q77.7 + MGP-related SED + Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome + MGP-related spondyloepiphyseal dysplasia + + + + + + + + + + + + + + + + OMIM:614980 + Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation + + + + + + + + + + + OMIM:614980 + 6q25.1 microdeletion syndrome + + + + + + + + + + + + + ICD-10:Q87.0 + ICD10:Q87.0 + OMIM:613443 + MEF2C-related syndrome + Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language + Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome + + + + + + + + + + + + + + + + OMIM:613443 + Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation + + + + + + + + + + + + + + + + + + ICD-10:Q04.8 + ICD10:Q04.8 + OMIM:620746 + SLC4A10-related neurodevelopmental disorder + Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome + + + + + + + + + + + + + + + + + + + + + + ICD-10:Q87.0 + ICD10:Q87.0 + OMIM:618729 + Liang-Wang syndrome + Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome + + + + + + + + + + Inherited cancer-predisposing lymphoproliferative syndrome + + + + + + + + + + Immune dysregulation disease with immunodeficiency associated with Epstein-Barr virus susceptibility + Immune dysregulation disease with immunodeficiency associated with EBV susceptibility + + + + + + + + + + Genetic HLH without hypopigmentation + Genetic hemophagocytic lymphohistiocytosis without hypopigmentation + Primary HLH without hypopigmentation + Primary hemophagocytic lymphohistiocytosis without hypopigmentation + + + + + + + + + + + + + + + + Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia. + HPS2 + Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency + Hermansky-Pudlak syndrome type 2 + Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency + Hermansky-Pudlak syndrome due to AP3B1 deficiency + + + + + + + + + + + + + + + + Early-onset severe Hermansky-Pudlak syndrome with deafness + Early-onset severe Hermansky-Pudlak syndrome with hearing loss due to adaptator related protein complex 3 subunit delta 1 deficiency + Early-onset severe Hermansky-Pudlak syndrome with neutropenia and hearing loss due to AP3D1 deficiency + HPS10 + Hermansky-Pudlak syndrome type 10 + Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency + + + + + + + + + + + + + + + + + + ICD-10:D82.3 + ICD10:D82.3 + Epstein-Barr virus-induced lymphoproliferative disease due to Ras guanyl nucleotide-releasing protein 1 deficiency + EBV-induced lymphoproliferative disease due to RASGRP1 deficiency + + + + + + + + + + + + + + + + + + ICD-10:D82.3 + ICD10:D82.3 + OMIM:615559 + EBV-induced lymphoproliferative disease due to protein kinase C delta deficiency + EBV-induced lymphoproliferative disease due to PRKCD deficiency + + + + + + + + + + + + + + + + + + ICD-10:D82.3 + ICD10:D82.3 + OMIM:620282 + Epstein-Barr virus-induced lymphoproliferative disease due to Cell differentiation 137 protein deficiency + EBV-induced lymphoproliferative disease due to CD137 deficiency + + + + + + + + + + + + + + + + + + ICD-10:D82.3 + ICD10:D82.3 + OMIM:619126 + Epstein-Barr virus-induced lymphoproliferative disease due to tet methylcytosine dioxygenase 2 deficiency + EBV-induced lymphoproliferative disease due to TET2 deficiency + + + + + + + + + + Epstein-Barr virus susceptibility with hemophagocytic lymphohistiocytosis as a major feature + EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature + + + + + + + + + + + ICD-10:T80.1 + ICD10:T80.1 + Embolia cutis medicamentosa + Livedo-like dermatitis + Nicolau syndrome + + + + + + + + + + + + ICD-10:G50.8 + ICD10:G50.8 + TTS + Trigeminal neuropathy with nasal ulceration + Trigeminal neurotrophic ulceration + Trophic ulceration of the ala nasi + Trigeminal trophic syndrome + + + + + + + + + + + ICD-10:I82.8 + ICD10:I82.8 + NRVT + Neonatal RVT + Neonatal renal venous thrombosis + + + + + + + + + + + + + + ICD-10:Q87.8 + ICD10:Q87.8 + OMIM:618622 + NEDMABA disorder + Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies + Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome + + + + @@ -204734,6 +206833,26 @@ + + + + + + Common arterial trunk with aortic dominance + + + + + + + + + + Common arterial trunk with pulmonary dominance and interrupted aortic arch + + + + @@ -204757,7 +206876,7 @@ - A rare cardiac disease characterized by acute occurrence of heart failure after an emotional or physical trigger however, recovery of the wall motion abnormalities are observed within months. Symptoms are similar to acute coronary syndrome (ACS). + A rare cardiac disease characterized by acute occurrence of heart failure after an emotional or physical trigger; recovery of the wall motion abnormalities are observed within months. Symptoms are similar to acute coronary syndrome (ACS). ICD-10:I42.8 ICD-11:BC43.5 ICD10:I42.8 @@ -205071,6 +207190,7 @@ MeSH:C564305 OMIM:608022 UMLS:C1842691 + DSD Diaphanospondylodysostosis @@ -205176,6 +207296,65 @@ + + + + + + + ICD-10:Q74.2 + ICD10:Q74.2 + Isolated congenital distal femoral duplication + Isolated congenital femoral bifurcation + + + + + + + + + + + + + + + + + ICD-10:C84.7 + ICD-11:2A90.B + ICD-11:XH05D8 + ICD10:C84.7 + ICD11:2A90.B + ICD11:XH05D8 + MedDRA:10082495 + UMLS:C4528210 + Breast implant-associated ALCL + Seroma-associated ALCL + Breast implant-associated anaplastic large cell lymphoma + + + + + + + + + + + ICD-10:D00.0 + ICD-11:2E60.0 + ICD10:D00.0 + ICD11:2E60.0 + Basal cell carcinoma of the buccal mucosa + Basal cell carcinoma of the oral cavity + IOBCC intramucosal basal cell carcinoma + Intraoral basal cell carcinoma + + + + @@ -205249,7 +207428,7 @@ ICD-10:A06.9 ICD-11:1A36 ICD-11:1A36.0 - ICD-11:1A36.00  + ICD-11:1A36.00 ICD-11:1A36.01 ICD-11:1A36.10 ICD10:A06.0 @@ -205323,8 +207502,8 @@ - HNSCC - Head and neck squamous cell carcinoma + OBSOLETE: HNSCC + OBSOLETE: Head and neck squamous cell carcinoma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare otorhinolaryngologic tumor OBSOLETE: Squamous cell carcinoma of head and neck true @@ -205385,6 +207564,9 @@ UMLS:C0023434 B-CLL B-cell chronic lymphoid leukemia + CLL + CLL/SLL + Chronic lymphocytic leukemia Small lymphocytic lymphoma B-cell chronic lymphocytic leukemia @@ -205680,6 +207862,36 @@ + + + + + + + ICD-10:Q87.0 + ICD10:Q87.0 + OMIM:615314 + TCF12-related syndromic craniosynostosis + Craniosynostosis-facial dysmorphism-brachydactyly syndrome + + + + + + + + + + + ICD-10:Q87.0 + ICD10:Q87.0 + OMIM:616602 + ZIC1-related syndromic craniosynostosis + Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome + + + + @@ -205735,6 +207947,144 @@ + + + + + + Metastatic vascular neoplasm + Malignant vascular tumor + + + + + + + + + + Benign vascular tumor + + + + + + + + + + Intermediate tumors + Locally aggressive tumors + Borderline vascular tumor + + + + + + + + + + + + IPEH + Masson's hemangioma + Masson's tumor + Masson's vegetant intravascular hemangiendothelioma + Reactive papillary endothelial hyperplasia + Vegetant intravascular hemangioendothelioma + Intravascular papillary endothelial hyperplasia + + + + + + + + + + + LCA + Littoral cell angioma + Littoral cell hemangioma of the spleen + + + + + + + + + + + Papillary capillary hemangioma + Papillary hemangioma + + + + + + + + + + + + Pseudomyogenic hemangioendothelioma + + + + + + + + + + + + EAH + Eccrine angiomatous nevus + Eccrine angiomatous hamartoma + + + + + + + + + + + Cutaneous reactive dermatoses + RA + RAE + Reactive angioendotheliomatosis + + + + + + + + + + Juvenile pilocytic astrocytoma + Classic pilocytic astrocytoma + + + + + + + + + + Anaplastic pilocytic astrocytoma + Pilocytic astrocytoma with histological features of anaplasia + + + + @@ -205754,6 +208104,204 @@ + + + + + + Proteoglycan-related bone disorder + + + + + + + + + + Syndrome with congenital functional defect of phagocyte as a major feature + Syndrome with constitutional functional phagocyte defect as a major feature + Syndrome with congenital phagocyte functional defect as a major feature + + + + + + + + + + + + + + + + + + + OMIM:620475 + ACTB-AST + Actinomyopathy-associated syndromic thrombocytopenia + + + + + + + + + + + + + + + + + + + + + + OMIM:616744 + Early-onset AID due to HA20 + Early-onset autoinflammatory disorder due to HA20 + Early-onset autoinflammatory syndrome associated with TNFAIP3 + HA20-related monogenic Behcet-like disease + Early-onset autoinflammatory syndrome due to A20 haploinsufficiency + + + + + + + + + + Non-syndromic congenital functional defect of phagocytes + Non-syndromic constitutional functional phagocyte defect + Non-syndromic congenital phagocyte functional defect + + + + + + + + + + + Isolated retinal arteriovenous aneurysm 3 + RRH + Isolated retinal racemose hemangioma + + + + + + + + + + + PEVAC + Perifoveal exudative vascular anomalous complex + + + + + + + + + + + Atypical macular coloboma + Congenital hypomelanotic freckle + Paramacular albinotic spot syndrome + Solitary hypopigmented nevus of the retinal pigment epithelium + TM + Torpedo Maculopathy + + + + + + + + + + + Isolated angioid streaks + + + + + + + + + + + + DUSN + Unilateral wipe-out syndrome + Diffuse unilateral subacute neuroretinitis + + + + + + + + + + + MEWDS + Multiple evanescent white dot syndrome + + + + + + + + + + + SMACH + Serous maculopathy due to aspecific choroidopathy + Stellate multiform amelanotic choroidopathy + + + + + + + + + + + + Choroidal osteoma + + + + + + + + + + + BDUMP + Paraneoplastic uveal melanocytic hyperplasia + Bilateral diffuse uveal melanocytic proliferation disease + + + + @@ -205775,6 +208323,277 @@ + + + + + + + + + + + + + OMIM:620174 + Spinocerebellar ataxia type 27B + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Anastomosing haemangioma + + + + + + + + + + + HH + THH + Targetoid hemosiderotic hemangioma + Hobnail hemangioma + + + + + + + + + + + MVH + Microvenular haemangioma + + + + + + + + + + + Large segmental hemangioma + Segmental hemangioma of infancy + Isolated segmental infantile hemangioma + + + + + + + + + + + + ALHE + Angiolymphoid hyperplasia with eosinophilia + EH + Epithelioid hemangioma + + + + + + + + + + + Cockett syndrome + MTS + May-Thurner syndrome + + + + + + + + + + + Acquired elastotic haemangioma + + + + + + + + + + + + + + + + + + OMIM:301078 + INFLTR8 + Toll-like receptor 8-associated inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome + TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome + + + + + + + + + + + + + + + + + + OMIM:618752 + SCN-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency + Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to signal recognition protein 54 deficiency + Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency + + + + + + + + + + + + + + + + + + + + Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome + + + + + + + + + + + + + + + + + + + Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective Rabenosyn-5 + Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN + + + + + + + + + + + Adenomatoid tumour of the pleura + + + + + + + + + + + Well-differentiated papillary mesothelial tumour of the pleura + + + + + + + + + + Localized pleural mesothelioma + + + + + + + + + + Diffused pleural mesothelioma + + + + + + + + + + Pleural mesothelioma in situ + + + + + + + + + + + Adenomatoid tumour of the peritoneum + + + + @@ -205808,6 +208627,67 @@ + + + + + + Primary benign peritoneal tumor + + + + + + + + + + + Well-differentiated papillary mesothelial tumour of the peritoneum + + + + + + + + + + + Peritoneal mesothelioma in situ + + + + + + + + + + + OMIM:618806 + Combined immunodeficiency due to FOXN1 haploinsufficiency + + + + + + + + + + + + DEX + Deficiency in ELF4, X-linked + X-AIDE + X-linked autoinflammatory and immunodeficiency disease associated with ELF4 + X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency + X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency + + + + @@ -205835,11 +208715,11 @@ - + @@ -205883,7 +208763,7 @@ UMLS:C0221011 Cutaneo-muco-intestinal syndrome MAP - Papulosis atrophican maligna + Papulosis atrophicans maligna Malignant atrophic papulosis @@ -206393,7 +209273,7 @@ UMLS:C5681318 - Vascular anomaly or angioma + Rare vascular anomaly @@ -206427,7 +209307,6 @@ - A vast group of rare systemic diseases characterized by the presence of insoluble fibrillar protein deposits in tissues. Amyloidoses are classified according to biochemical type of amyloid protein involved. ICD-10:E85.0 @@ -206822,10 +209701,10 @@ ICD-10:D80.2 ICD10:D80.2 - IgA deficiency - IgAD - SIgAD - Selective immunoglobulin A deficiency + NON RARE IN EUROPE: IgA deficiency + NON RARE IN EUROPE: IgAD + NON RARE IN EUROPE: SIgAD + NON RARE IN EUROPE: Selective immunoglobulin A deficiency This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Immunoglobulin A deficiency true @@ -206870,7 +209749,7 @@ Intrahepatic cholestasis of pregnancy (ICP) is a cholestatic disorder characterized by (i) pruritus with onset in the second or third trimester of pregnancy, (ii) elevated serum aminotransferases and bile acid levels, and (iii) spontaneous relief of signs and symptoms within two to three weeks after delivery. ICD-10:O26.6 - ICD-11:JA65.0  + ICD-11:JA65.0 ICD10:O26.6 ICD11:JA65.0 MESH:C535932 @@ -207004,6 +209883,8 @@ ICD-11:LD2H.Y ICD10:G96.8 ICD11:LD2H.Y + MESH:C535397 + MeSH:C535397 OMIM:601536 UMLS:C1832215 ABSD @@ -207057,7 +209938,6 @@ - @@ -207069,6 +209949,8 @@ MedDRA:10062941 OMIM:557000 UMLS:C0342784 + PMPS + Pearson marrow-pancreas syndrome Pearson syndrome @@ -207274,8 +210156,8 @@ - HLP type 5 - Major hyperlipidemia + OBSOLETE: HLP type 5 + OBSOLETE: Major hyperlipidemia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial chylomicronemia syndrome OBSOLETE: Hyperlipoproteinemia type 5 true @@ -207299,7 +210181,7 @@ - A French Canadian form of Leigh syndrome characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. + A rare degenerative mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development. ICD-10:G31.8 ICD-11:5C53.24 ICD10:G31.8 @@ -207324,13 +210206,6 @@ - ICD-10:G31.8 - ICD-11:5C53.24 - ICD10:G31.8 - ICD11:5C53.24 - OMIM:256000 - OMIM:618228 - OMIM:618252 UMLS:C5680116 Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency Cardiomyopathy with myopathy due to COX deficiency @@ -207805,8 +210680,8 @@ ICD-10:Q25.0 ICD10:Q25.0 MedDRA:10034130 - Patent ductus arteriosus - Persistent patency of the arterial duct + NON RARE IN EUROPE: Patent ductus arteriosus + NON RARE IN EUROPE: Persistent patency of the arterial duct This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Patent arterial duct true @@ -207817,9 +210692,9 @@ - + Plague is a severe bacterial infection caused by the Gram-negative bacterium <i>Yersinia pestis</i>. ICD-10:A20.0 ICD-10:A20.1 @@ -207841,7 +210716,8 @@ MeSH:D010930 MedDRA:10035148 UMLS:C0032064 - Yersiniosis + Y. pestis infection + Yersinia pestis infection Plague @@ -207988,9 +210864,6 @@ - ICD-10:E77.8 - ICD10:E77.8 - OMIM:614921 UMLS:C2752015 GSD due to phosphoglucomutase deficiency GSD type 14 @@ -208038,7 +210911,7 @@ ICD10:D55.2 ICD11:3A10.Y OMIM:613470 - UMLS:C5680791 + UMLS:C0272064 Hemolytic anemia due to glucophosphate isomerase deficiency @@ -208144,13 +211017,13 @@ - + Retinal cavernous hemangioma is a rare, benign, usually unilateral retinal vascular hamartoma that in most cases is asymptomatic but in some patients may present with blurred vision or floaters and that is characterized by the presence of grape-like vacuoles. ICD-10:D18.0 ICD-11:LD23 @@ -208189,7 +211062,7 @@ - BES + OBSOLETE: BES This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare ophthalmic disorder OBSOLETE: Benign exophthalmos syndrome true @@ -208350,6 +211223,7 @@ ICD-11:CA0B ICD10:J34.8 ICD11:CA0B + MedDRA:10075540 UMLS:C3698095 Imploding antrum syndrome Silent sinus syndrome @@ -208534,8 +211408,6 @@ - ICD-10:H35.0 - ICD10:H35.0 HVR Hereditary vascular retinopathy-Raynaud phenomenon-migraine syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations @@ -208592,7 +211464,7 @@ ICD10:D55.2 ICD11:3A10.Y OMIM:222800 - UMLS:C5680790 + UMLS:C0272069 Hemolytic anemia due to diphosphoglycerate mutase deficiency @@ -209470,8 +212342,6 @@ - ICD-10:D56.0 - ICD10:D56.0 OMIM:309580 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Alpha-thalassemia-X-linked intellectual disability syndrome X-linked intellectual disability-hypotonic face syndrome @@ -209600,11 +212470,9 @@ - ICD-10:K20 ICD-11:DA24.1 - ICD10:K20 ICD11:DA24.1 - EoE + NON RARE IN EUROPE: EoE This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Eosinophilic esophagitis true @@ -209912,8 +212780,6 @@ - ICD-10:Q82.8 - ICD10:Q82.8 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Punctate palmoplantar keratoderma type 2 Palmoplantar porokeratosis of Mantoux true @@ -209951,7 +212817,7 @@ - Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both. + A group of rare hereditary metabolic diseases characterized by intermittent neurovisceral manifestations and/or skin lesions. ICD-10:E80.1 ICD-10:E80.2 ICD-11:5C58.1 @@ -210170,7 +213036,7 @@ - Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. + A rare complex overgrowth syndrome characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. ICD-10:Q87.3 ICD-11:LD2C ICD10:Q87.3 @@ -210344,8 +213210,6 @@ - ICD-10:E75.2 - ICD10:E75.2 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Pseudoarylsulfatase A deficiency true @@ -210359,19 +213223,7 @@ ICD-10:B87 - ICD-11:1G01 - ICD-11:1G01.0 - ICD-11:1G01.1 - ICD-11:1G01.2 - ICD-11:1G01.3 - ICD-11:1G01.Y ICD10:B87 - ICD11:1G01 - ICD11:1G01.0 - ICD11:1G01.1 - ICD11:1G01.2 - ICD11:1G01.3 - ICD11:1G01.Y MESH:D009198 MeSH:D009198 MedDRA:10028586 @@ -210594,13 +213446,15 @@ A rare genetic cerebral small vessel disease characterized by isolated marked tortuosity of second-order and third-order retinal arteries with normal first-order arteries and venous system, typically located in the macular and peripapillary area and developing during childhood or early adulthood. The disease may be asymptomatic, although most patients present variable degrees of transient vision loss due to retinal hemorrhage following physical exertion or minor trauma. + ICD-10:H35.0 + ICD10:H35.0 OMIM:180000 UMLS:C0423401 - Familial isolated retinal arterial tortuosity + Familial retinal arteriolar tortuosity Retinal arteriolar tortuosity Retinal hemorrhage with vascular tortuosity Tortuosity of retinal arteries - Retinal arterial tortuosity + Familial isolated retinal arteriolar tortuosity @@ -210674,7 +213528,7 @@ - Bradyopsia is characterised by prolonged electroretinal response suppression leading to difficulties adjusting to changes in luminance, normal to subnormal acuity and photophobia. + A rare genetic retinal disorder characterized by childhood-onset of markedly delayed visual adaptation to both dark and light conditions, marked difficulties tracking moving objects, and mild photophobia. Visual acuity is variably reduced, while color vision is unaffected. ICD-10:H53.8 ICD-11:9D7Y ICD10:H53.8 @@ -211050,10 +213904,10 @@ - EDS X - Ehlers-Danlos syndrome type 10 - Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality - Ehlers-Danlos syndrome, fibronectin-deficient + OBSOLETE: EDS X + OBSOLETE: Ehlers-Danlos syndrome type 10 + OBSOLETE: Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality + OBSOLETE: Ehlers-Danlos syndrome, fibronectin-deficient This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Classical Ehlers-Danlos syndrome OBSOLETE: Ehlers-Danlos syndrome, fibronectinemic type true @@ -211256,8 +214110,6 @@ - ICD-10:L67.8 - ICD10:L67.8 Trichothiodystrophy-osteosclerosis syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Trichothiodystrophy SIBIDS syndrome @@ -211270,9 +214122,6 @@ - ICD-10:L67.8 - ICD10:L67.8 - OMIM:234050 Trichorrhexis nodosa syndrome Trichothiodystrophy type C Trichothiodystrophy-neurocutaneous syndrome syndrome @@ -211426,8 +214275,8 @@ ICD-11:5A60.3 ICD11:5A60.3 - CPP - Gonadotropin-dependant precocious puberty + NON RARE IN EUROPE: CPP + NON RARE IN EUROPE: Gonadotropin-dependant precocious puberty This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Central precocious puberty true @@ -211762,20 +214611,8 @@ - ICD-10:K51.0 - ICD-10:K51.2 - ICD-10:K51.3 - ICD-10:K51.4 - ICD-10:K51.5 - ICD-10:K51.8 - ICD10:K51.0 - ICD10:K51.2 - ICD10:K51.3 - ICD10:K51.4 - ICD10:K51.5 - ICD10:K51.8 - Ulcerative proctitis - Ulcerative proctosigmoiditis + NON RARE IN EUROPE: Ulcerative proctitis + NON RARE IN EUROPE: Ulcerative proctosigmoiditis This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Ulcerative colitis true @@ -211939,8 +214776,6 @@ - ICD-10:E88.2 - ICD10:E88.2 OMIM:614103 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Lipedema @@ -212374,9 +215209,6 @@ - ICD-10:Q87.8 - ICD10:Q87.8 - OMIM:608572 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Burn-McKeown syndrome Oculo-oto-facial dysplasia true @@ -212388,7 +215220,7 @@ - CVID due to an intrinsic B cell defect + OBSOLETE: CVID due to an intrinsic B cell defect This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Common variable immunodeficiency OBSOLETE: Common variable immunodeficiency due to an intrinsic B cell defect true @@ -212586,6 +215418,12 @@ + + + + + + @@ -212844,18 +215682,12 @@ ICD-10:B76.1 ICD-10:B76.8 ICD-10:B76.9 - ICD-11:1F68 ICD-11:1F68.0 - ICD-11:1F68.1 - ICD-11:1F68.2 ICD10:B76.0 ICD10:B76.1 ICD10:B76.8 ICD10:B76.9 - ICD11:1F68 ICD11:1F68.0 - ICD11:1F68.1 - ICD11:1F68.2 MESH:D000724 MeSH:D000724 MedDRA:10002255 @@ -213104,9 +215936,6 @@ - ICD-10:Q87.8 - ICD10:Q87.8 - OMIM:300209 UMLS:C1846175 Lethal variant of Simpson-Golabi-Behmel syndrome SGBS2 @@ -213122,6 +215951,7 @@ + UMLS:C0342666 Disorder of amino acid and other organic acid metabolism @@ -213254,6 +216084,7 @@ ICD-11:5A44 ICD10:E88.1 ICD11:5A44 + MedDRA:10087376 UMLS:C0271693 Acquired lipoatrophic diabetes Lawrence syndrome @@ -214529,7 +217360,7 @@ - Episodic ataxia type 3 (EA3) is a very rare form of Hereditary episodic ataxia (see this term) characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia. + A rare form of Hereditary episodic ataxia characterized by vestibular ataxia, vertigo, tinnitus, and interictal myokymia. ICD-10:G11.8 ICD-11:8A03.14 ICD10:G11.8 @@ -214550,7 +217381,7 @@ - Episodic ataxia type 4 (EA4) is a very rare form of Hereditary episodic ataxia (see this term) characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia. + A rare form of Hereditary episodic ataxia characterized by late-onset episodic ataxia, recurrent attacks of vertigo, and diplopia. ICD-10:G11.8 ICD-11:8A03.14 ICD10:G11.8 @@ -214642,7 +217473,7 @@ - Cutaneous neuroendocrine carcinoma is a primary cutaneous cancer arising from a subset of skin neuroendocrine cells (Merkel cells, giving the name Merkel cell carcinoma (MCC)). + A rare aggressive skin cancer characterized by a rapidly growing nodule with both epithelial and neuroendocrine features, driven in 80% of cases by the oncogenic Merkel cell polyomavirus (MCPyV). ICD-10:C44.3 ICD-10:C44.6 ICD-10:C44.7 @@ -214687,8 +217518,6 @@ - ICD-10:M72.0 - ICD10:M72.0 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Familial Dupuytren contracture true @@ -215291,6 +218120,7 @@ ICD-11:5C59.1 ICD11:5C59.1 + UMLS:C4702813 Disorder of GABA metabolism Disorder of gamma-aminobutyric acid metabolism @@ -215302,6 +218132,7 @@ + UMLS:C1398833 Gluconeogenesis disorder @@ -215388,6 +218219,7 @@ ICD-11:5C50.F ICD11:5C50.F + UMLS:C4736193 Disorder of peptide metabolism @@ -215637,9 +218469,9 @@ - Combined hyperlipoproteinemia - Mixed hyperlipidemia - Mixed hyperlipoproteinemia + OBSOLETE: Combined hyperlipoproteinemia + OBSOLETE: Mixed hyperlipidemia + OBSOLETE: Mixed hyperlipoproteinemia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare hyperlipidemia OBSOLETE: Combined hyperlipidemia true @@ -216238,6 +219070,7 @@ ICD10:E75.1 ICD11:5C56.00 OMIM:230500 + UMLS:C0268271 Infantile GM1 gangliosidosis Norman-Landing disease GM1 gangliosidosis type 1 @@ -216377,8 +219210,6 @@ - ICD-10:E74.0 - ICD10:E74.0 UMLS:C0342749 Type 1C glycogenosis This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib @@ -216392,8 +219223,6 @@ - ICD-10:E74.0 - ICD10:E74.0 UMLS:C0342750 Type 1D glycogenosis This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib @@ -216406,79 +219235,15 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration. - ICD-10:E75.4 - ICD-11:5C56.1 - ICD10:E75.4 - ICD11:5C56.1 - OMIM:162350 - OMIM:204300 - OMIM:256730 - OMIM:601780 - OMIM:610127 - OMIM:614706 - OMIM:615362 - UMLS:C0022797 - ANCL - Adult CLN disease - Adult NCL - Adult NCL disease - Kufs disease - Adult neuronal ceroid lipofuscinosis + + OBSOLETE: ANCL + OBSOLETE: Adult CLN disease + OBSOLETE: Adult NCL + OBSOLETE: Adult NCL disease + OBSOLETE: Kufs disease + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis + OBSOLETE: Adult neuronal ceroid lipofuscinosis + true @@ -216486,61 +219251,15 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - Infantile neuronal ceroid lipofuscinosis (INCL) is a form of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities. - ICD-10:E75.4 - ICD-11:5C56.1 - ICD10:E75.4 - ICD11:5C56.1 - OMIM:256730 - UMLS:C0268281 - Hagberg-Santavuori disease - INCL - Infantile NCL - Santavuori disease - Santavuori-Haltia disease - Infantile neuronal ceroid lipofuscinosis + + OBSOLETE: Hagberg-Santavuori disease + OBSOLETE: INCL + OBSOLETE: Infantile NCL + OBSOLETE: Santavuori disease + OBSOLETE: Santavuori-Haltia disease + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis + OBSOLETE: Infantile neuronal ceroid lipofuscinosis + true @@ -216548,92 +219267,16 @@ - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - - A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities. - ICD-10:E75.4 - ICD-11:5C56.1 - ICD10:E75.4 - ICD11:5C56.1 - MedDRA:10052073 - OMIM:204200 - OMIM:204500 - OMIM:256730 - OMIM:600143 - OMIM:609055 - OMIM:610127 - UMLS:C0751383 - Batten disease - JNCL - Juvenile CLN disease - Juvenile NCL - Juvenile NCL disease - Spielmeyer-Vogt disease - Juvenile neuronal ceroid lipofuscinosis + + OBSOLETE: Batten disease + OBSOLETE: JNCL + OBSOLETE: Juvenile CLN disease + OBSOLETE: Juvenile NCL + OBSOLETE: Juvenile NCL disease + OBSOLETE: Spielmeyer-Vogt disease + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neuronal ceroid lipofuscinosis + OBSOLETE: Juvenile neuronal ceroid lipofuscinosis + true @@ -216760,7 +219403,7 @@ - Hereditary coproporphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions. + A rare acute hepatic porphyria characterized by neurovisceral attacks and, more rarely, skin lesions. ICD-10:E80.2 ICD-11:5C58.1Y ICD10:E80.2 @@ -216787,7 +219430,7 @@ - A rare, severe form of the acute hepatic porphyrias characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations. + A form of acute hepatic porphyria characterized by the occurrence of neurovisceral attacks without cutaneous symptoms. ICD-10:E80.2 ICD-11:5C58.1Y ICD10:E80.2 @@ -216806,7 +219449,7 @@ - + @@ -216820,7 +219463,7 @@ - Congenital erythropoietic porphyria, or Günther disease, is a form of erythropoietic porphyria characterized by very severe and mutilating photodermatosis. + A rare erythropoietic porphyria characterized by a non-photoalgesic, polymorphic, mutilating and very severe photodermatosis. ICD-10:E80.0 ICD-11:5C58.12 ICD10:E80.0 @@ -216828,7 +219471,6 @@ MESH:D017092 MeSH:D017092 OMIM:263700 - UMLS:C0162530 CEP Günther disease Congenital erythropoietic porphyria @@ -216839,17 +219481,17 @@ - - + + - Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity. + A rare hereditary disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, with photosensitive skin manifestations. ICD-10:E80.0 ICD-11:5C58.12 ICD10:E80.0 @@ -217040,8 +219682,6 @@ - ICD-10:E75.2 - ICD10:E75.2 UMLS:C0268247 Niemann-Pick disease, Nova Scotia type This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Niemann-Pick disease type C @@ -217323,6 +219963,7 @@ MESH:C535933 MeSH:C535933 OMIM:211600 + UMLS:C4551898 Byler disease FIC1 deficiency PFIC1 @@ -217349,6 +219990,7 @@ MESH:C537360 MeSH:C537360 OMIM:251100 + UMLS:C1855109 Vitamin B12-responsive methylmalonic aciduria type cblA Vitamin B12-responsive methylmalonic acidemia type cblA @@ -217373,6 +220015,7 @@ MESH:C537361 MeSH:C537361 OMIM:251110 + UMLS:C1855102 Vitamin B12-responsive methylmalonic aciduria, type cblB Vitamin B12-responsive methylmalonic acidemia type cblB @@ -217396,6 +220039,7 @@ ICD10:E71.1 ICD11:5C50.E0 OMIM:251000 + UMLS:C0342719 Partial deficiency of methylmalonyl-CoA mutase Vitamin B12-unresponsive methylmalonic aciduria type mut- Vitamin B12-unresponsive methylmalonic acidemia type mut- @@ -217467,7 +220111,7 @@ - PEPCK1 deficiency + OBSOLETE: PEPCK1 deficiency This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Phosphoenolpyruvate carboxykinase deficiency OBSOLETE: Phosphoenolpyruvate carboxykinase 1 deficiency true @@ -217479,7 +220123,7 @@ - PEPCK2 deficiency + OBSOLETE: PEPCK2 deficiency This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Phosphoenolpyruvate carboxykinase deficiency OBSOLETE: Phosphoenolpyruvate carboxykinase 2 deficiency true @@ -217645,7 +220289,7 @@ - The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterised by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common. + A rare disorder of multiple glycosylation pathways characterized by global developmental delay, motor skills delay, hypotonia, seizures, microcephaly and eye abnormalities (including retinopathy, nystagmus, strabismus) with varying onset and severity. Additional clinical features may include peripheral neuropathy, dysmorphic features (facial and limb abnormalities), ataxia and severe gastrointestinal involvement. ICD-10:E77.8 ICD-11:5C54.2 ICD10:E77.8 @@ -217681,7 +220325,7 @@ - The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type If is characterised by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies. + A rare disorder of multiple-pathway glycosylation characterised by psychomotor delay, seizures, failure to thrive, cardiomyopathy, and ichthyosis-like cutaneous anomalies. ICD-10:E77.8 ICD-11:5C54.2 ICD10:E77.8 @@ -217754,7 +220398,7 @@ - A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene <i>ALG8</i> (11q14.1), resulting in a block in the initial step of protein glycosylation. + A rare form of congenital disorders of N-linked glycosylation characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene <i>ALG8</i> (11q14.1), resulting in a block in the initial step of protein glycosylation. ICD-10:E77.8 ICD-11:5C54.0 ICD10:E77.8 @@ -217862,7 +220506,7 @@ - A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene <i>ALG9</i> (11q23). + A rare form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene <i>ALG9</i> (11q23). ICD-10:E77.8 ICD-11:5C54.0 ICD10:E77.8 @@ -217898,7 +220542,7 @@ - MGAT2-CDG is a form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene <i>MGAT2</i> (14q21). + A rare form of disorder of protein N-glycosylation characterized by facial dysmorphism (large, posteriorly rotated ears with prominent antihelices, convex nasal ridge, open mouth, large and crowded teeth), stereotypic hand movements, seizures, and varying degrees of developmental delay. A bleeding tendency is also observed and this results from diminished platelet aggregation. The disease is caused by loss-of-function mutations in the gene <i>MGAT2</i> (14q21). ICD-10:E77.8 ICD-11:5C54.0 ICD10:E77.8 @@ -218390,6 +221034,7 @@ + UMLS:C1387995 Sebaceous gland anomaly @@ -219127,8 +221772,6 @@ - ICD-10:Q81.2 - ICD10:Q81.2 DDEB, Cockayne-Touraine type This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal dominant generalized dystrophic epidermolysis bullosa Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type @@ -219559,8 +222202,6 @@ - ICD-10:Q87.2 - ICD10:Q87.2 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Bartsocas-Papas syndrome Multiple pterygium syndrome, Aslan type true @@ -219590,8 +222231,6 @@ - ICD-10:Q82.0 - ICD10:Q82.0 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Milroy disease Non-hereditary congenital primary lymphedema true @@ -219723,8 +222362,6 @@ - ICD-10:L98.8 - ICD10:L98.8 Congenital hypotrichosis-milia syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Bazex-Dupré-Christol syndrome Oley syndrome @@ -219800,7 +222437,7 @@ - Variegate porphyria is a form of acute hepatic porphyria (see this term) characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions. + A rare acute hepatic porphyria characterized by neurovisceral attacks and/or skin lesions. ICD-10:E80.2 ICD-11:5C58.13 ICD10:E80.2 @@ -219809,9 +222446,9 @@ MeSH:D046350 OMIM:176200 UMLS:C0162532 + Porphyria variegata Protoporphyrinogen oxidase deficiency - Variegate porphyria - Porphyria variegata + Variegate porphyria @@ -219873,7 +222510,6 @@ - @@ -219991,8 +222627,6 @@ - ICD-10:Q82.8 - ICD10:Q82.8 OMIM:304200 UMLS:C0795848 Akesson syndrome @@ -220073,8 +222707,6 @@ - ICD-10:D18.1 - ICD10:D18.1 OMIM:257350 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Macrocystic lymphatic malformation Cystic hygroma @@ -220295,12 +222927,6 @@ - - - - - - A rare hereditary skin disease characterized by irregularly distributed epidermal papular/punctate hyperkeratosis of the palms and soles with wide variation among patients. ICD-10:Q82.8 ICD-11:EC20.32 @@ -220374,8 +223000,6 @@ - ICD-10:Q80.0 - ICD10:Q80.0 MESH:C536087 MeSH:C536087 OMIM:146600 @@ -220450,8 +223074,6 @@ MeSH:D012497 OMIM:268800 UMLS:C0036161 - GM2 gangliosidosis 0 variant - Hexosaminidases A and B deficiency Sandhoff disease @@ -220743,7 +223365,7 @@ - + @@ -220783,7 +223405,7 @@ - Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc) (see these terms). + Scleroderma is a rare autoimmune connective tissue disorder characterized by abnormal hardening of the skin and, sometimes, other organs. It is classified into two main forms: localized scleroderma and systemic sclerosis (SSc), the latter comprising three subsets; diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc) and limited SSc (lSSc). MedDRA:10039710 UMLS:C0011644 Scleroderma @@ -221082,11 +223704,8 @@ - ICD-10:D69.4 - ICD10:D69.4 MESH:C537531 MeSH:C537531 - OMIM:155100 UMLS:C1854520 Macrothrombocytopenia with leukocyte inclusions This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MYH9-related disease @@ -221196,9 +223815,9 @@ Mixed connective tissue disease (MCTD) is a rare connective tissue disorder combining clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), polymyositis (PM) (see these terms) and/or rheumatoid arthritis (RA). ICD-10:M35.1 - ICD-11:1A30 + ICD-11:4A43.3 ICD10:M35.1 - ICD11:1A30 + ICD11:4A43.3 MESH:D008947 MeSH:D008947 MedDRA:10027754 @@ -221268,18 +223887,12 @@ - + - - - - - - @@ -221567,8 +224180,6 @@ - ICD-10:Q04.8 - ICD10:Q04.8 UMLS:C1845235 EDS with periventricular heterotopia Filamin A-related EDS with periventricular nodular heterotopia @@ -221598,12 +224209,6 @@ - - - - - - @@ -221688,7 +224293,7 @@ - A group of rare neural tube defect disorders characterized by improper closure of the spinal column during embryonal development, not associated with other major congenital malformations nor ventriculomegaly. The extent of the closure defect may vary, ranging from spina bifida occulta, in which the site of the lesion is not exposed (e.g. an isolated posterior vertebral arch defect), to spina bifida aperta, in which the lesion may be conformed of proturding spinal cord and meninges (myelomeningocele) or meninges exposure only (meningocele), with or without a proturding sac at the site of the lesion, to the most severe defect which includes total exposure of the spinal cord along its full length (rachischisis). Depending on the type, size and site of the defect, severe morbidity, typically inlcuding motor, sensory and sphincter dysfunction, and mortality may be associated. Spina bifida occulta may be asymptomatic. + A group of rare neural tube defect disorders characterized by improper closure of the spinal column during embryonal development that is usually not associated with other major congenital malformations but may include ventriculomegaly. The extent of the closure defect may vary, ranging from spina bifida occulta, in which the site of the lesion is not exposed (e.g. an isolated posterior vertebral arch defect), to spina bifida aperta, in which the lesion may be conformed of proturding spinal cord and meninges (myelomeningocele) or meninges exposure only (meningocele), with or without a proturding sac at the site of the lesion, to the most severe defect which includes total exposure of the spinal cord along its full length (rachischisis). Depending on the type, size and site of the defect, severe morbidity, typically inlcuding motor, sensory and sphincter dysfunction, and mortality may be associated. Spina bifida occulta may be asymptomatic. ICD-11:LA02 ICD11:LA02 MESH:D016135 @@ -221761,8 +224366,8 @@ ICD-10:M45 ICD10:M45 - Ankylosing spondylarthritis - Bechterew syndrome + NON RARE IN EUROPE: Ankylosing spondylarthritis + NON RARE IN EUROPE: Bechterew syndrome This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Ankylosing spondylitis true @@ -221863,6 +224468,12 @@ + + + + + + A rare group of genetic connective tissue disorders characterized by ophthalmic, auditory, orofacial and articular manifestations. The two main clinical forms are clinically distinguished by the vitreous phenotype; stickler type 1 by a vestigial vitreous gel in the immediate retrolental space, bordered by a distinct folded membrane, and Stickler type 2 by sparse and irregularly thickened bundles of &#64257;bers throughout the vitreous cavity. ICD-10:Q87.0 ICD-11:LD2F.1Y @@ -221931,8 +224542,6 @@ - ICD-10:D23.9 - ICD10:D23.9 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Stuccokeratosis true @@ -222211,11 +224820,11 @@ ICD11:5C56.4 MESH:C538523 MeSH:C538523 - MedDRA:10067529 - MedDRA:10067531 OMIM:269920 OMIM:604369 UMLS:C2931872 + FSASD + Free sialic acid storage disorder Free sialic acid storage disease @@ -222312,9 +224921,7 @@ - ICD-10:E22.2 - ICD10:E22.2 - SIADH + NON RARE IN EUROPE: SIADH This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Inappropriate antidiuretic hormone secretion syndrome true @@ -222936,8 +225543,6 @@ - ICD-10:I42.0 - ICD10:I42.0 Severe dilated cardiomyopathy with or without myopathy This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Familial dilated cardiomyopathy with conduction defect due to LMNA mutation Severe dilated cardiomyopathy due to lamin A/C mutation @@ -222994,10 +225599,10 @@ + - A disorder defining by the association of Perineal hemangioma, External genitalia malformations, Lipomyelomeningocele, Vesicorenal abnormalities, Imperforate anus, and Skin tag. Eleven cases have been reported. @@ -223005,6 +225610,7 @@ ICD-11:LD2F.1Y ICD10:Q87.8 ICD11:LD2F.1Y + MedDRA:10082949 UMLS:C4510867 Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome PELVIS syndrome @@ -223387,7 +225993,6 @@ - @@ -223507,7 +226112,7 @@ - + A rare non-immune-mediated glomerular disease characterized by abnormal accumulation of type III collagen within the mesangium and subendothelial space of the glomerulus. Clinically it usually manifests with proteinuria (often in the nephrotic range), microscopic hematuria, peripheral edema and/or hypertension. Progression to end-stage kidney failure is possible. ICD-10:N07.6 ICD10:N07.6 @@ -223521,9 +226126,10 @@ + - + @@ -223621,6 +226227,7 @@ + A rare inclusion myopathy characterized by hypotonia and axial muscle weakness leading to spinal rigidity and development of scoliosis and other deformities which can result in respiratory failure. The symptoms are apparent from birth or early childhood. The muscle weakness is not progressive, and most patients remain ambulatory. Muscle biopsies show variable myopathic changes. ICD-10:G71.8 ICD-11:4A41.21 ICD10:G71.8 @@ -223687,12 +226294,10 @@ - ICD-10:N04.1  - ICD-10:N04.3  - ICD-10:N04.8 + ICD-10:N04.1 + ICD-10:N04.3 ICD10:N04.1 ICD10:N04.3 - ICD10:N04.8 Sporadic idiopathic nephrosis This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Genetic steroid-resistant nephrotic syndrome Sporadic idiopathic steroid-resistant nephrotic syndrome @@ -223733,7 +226338,7 @@ - A rare autosomal recessive lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A deficiency as a consequence of biallelic pathogenic variants in the HEXA gene. + A rare autosomal recessive lysosomal disease characterized by accumulation of GM2 gangliosides in the nervous system due to hexosaminidase A deficiency as a consequence of biallelic pathogenic variants in the <i>HEXA</i> gene. ICD-10:E75.0 ICD-11:5C56.00 ICD10:E75.0 @@ -223743,7 +226348,7 @@ MedDRA:10043147 OMIM:272800 UMLS:C0039373 - Beta-hexosaminidase subunitalpha deficiency + Beta-hexosaminidase subunit alpha deficiency GM2 gangliosidosis, Tay-Sachs variant GM2 gangliosidosis, hexosaminidase A deficiency variant HEXA disorder @@ -223802,7 +226407,7 @@ OMIM:309580 UMLS:C1845055 ATR-X syndrome - Alpha-thalassemia-X-linked intellectual disability syndrome + X-linked alpha-thalassemia-intellectual disability syndrome @@ -223892,11 +226497,6 @@ - ICD-10:D72.0 - ICD-11:3B64.01 - ICD10:D72.0 - ICD11:3B64.01 - OMIM:155100 MHA May-Hegglin anomaly May-Hegglin syndrome @@ -224077,10 +226677,10 @@ ICD-10:D35.0 ICD10:D35.0 - Aldosterone-secreting adenoma - Aldosteronoma - Conn adenoma - Primary aldosteronism due to Conn adenoma + NON RARE IN EUROPE: Aldosterone-secreting adenoma + NON RARE IN EUROPE: Aldosteronoma + NON RARE IN EUROPE: Conn adenoma + NON RARE IN EUROPE: Primary aldosteronism due to Conn adenoma This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Aldosterone-producing adenoma true @@ -224147,7 +226747,7 @@ - A rare developmental defect characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit. + A rare developmental defect during embryogenesis characterized by congenital or early onset cataracts (usually bilateral), developmental delay, progressive neurologic symptoms (including ataxia, spasticity and sometimes seizures) and mild-to-moderate cognitive impairment. Other major clinical features include truncal hypotonia, dysarthia, cerebellar signs (e.g: truncal titubation and intention tremor) and peripheral neuropathy (e.g: progressive weakness of the muscles in the lower limbs). Hypomyelination associated with periventricular white matter abnormalities is observed. Some patients may have mild lens opacity and cataracts could be absent. ICD-10:G37.8 ICD10:G37.8 MESH:C567166 @@ -224456,7 +227056,6 @@ ICD-11:LD24.10 ICD10:Q78.2 ICD11:LD24.10 - OMIM:259720 OMIM:600329 UMLS:C4510764 Infantile osteopetrosis with neuroaxonal dysplasia @@ -224564,7 +227163,6 @@ - @@ -224707,8 +227305,6 @@ - ICD-10:M89.5 - ICD10:M89.5 NAO syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Multicentric osteolysis-nodulosis-arthropathy spectrum Nodulosis-arthropathy-osteolysis syndrome @@ -224812,24 +227408,13 @@ - - - - - - - - - - Ischio-vertebral syndrome is a very rare, poorly-defined bone disease characterized by ischial aplasia or hypoplasia, vertebral anomalies (vertebral malsegmentation, kyphoscoliosis), and in some patients, non-distinctive facial dysmorphism. - ICD-10:Q77.8 - ICD-11:LD24.H - ICD10:Q77.8 - ICD11:LD24.H + UMLS:C4274732 Ischiospinal dysostosis Ischiovertebral dysplasia - Ischiovertebral syndrome + This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Diaphanospondylodysostosis + Ischio-vertebral syndrome + true @@ -224846,7 +227431,7 @@ - Genitopatellar syndrome is a rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency. + A rare congenital patellar anomaly syndrome characterized by patellar aplasia or hypoplasia associated with microcephaly, characteristic coarse facial features (microcephaly, bitemporal narrowing, large, broad nose with high nasal bridge, prominent cheeks and micro/retrognathia or prognathism), arthrogryposis of the hips and knees, urogenital abnormalities and intellectual deficiency. ICD-10:Q87.8 ICD-11:LD2F.1Y ICD10:Q87.8 @@ -224875,7 +227460,7 @@ - Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. + A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases. ICD-10:Q87.8 ICD-11:LD2F.1Y ICD10:Q87.8 @@ -225132,9 +227717,9 @@ - Lubs-Arena syndrome - X-linked intellectual disability, Lubs type - X-linked intellectual disability-hypotonia-recurrent Infections syndrome + OBSOLETE: Lubs-Arena syndrome + OBSOLETE: X-linked intellectual disability, Lubs type + OBSOLETE: X-linked intellectual disability-hypotonia-recurrent Infections syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Proximal Xq28 duplication syndrome OBSOLETE: MECP2 duplication syndrome true @@ -225252,6 +227837,12 @@ + + + + + + X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome. ICD-10:Q87.8 ICD-11:LD90 @@ -225322,9 +227913,6 @@ - ICD-10:Q87.8 - ICD10:Q87.8 - OMIM:300354 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to X-linked intellectual disability, Cabezas type X-linked intellectual disability, Vitale type true @@ -225354,11 +227942,8 @@ - ICD-10:Q93.3 - ICD10:Q93.3 MESH:C536760 MeSH:C536760 - OMIM:194190 Wittwer syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Wolf-Hirschhorn syndrome X-linked intellectual disability, Wittwer type @@ -225720,8 +228305,6 @@ - ICD-10:F84.8 - ICD10:F84.8 OMIM:309590 UMLS:C2678046 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Non-specific syndromic intellectual disability @@ -225760,8 +228343,6 @@ - ICD-10:G11.4 - ICD10:G11.4 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to MASA syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome true @@ -225817,8 +228398,6 @@ - ICD-10:G11.4 - ICD10:G11.4 UMLS:C2931491 Arena syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Pelizaeus-Merzbacher disease @@ -225880,9 +228459,9 @@ An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death. ICD-10:G31.8 - ICD-11:LD90.Y + ICD-11:8A2Y ICD10:G31.8 - ICD11:LD90.Y + ICD11:8A2Y UMLS:C4305135 X-linked neurodegenerative syndrome, Hamel type @@ -225893,8 +228472,6 @@ - ICD-10:G31.8 - ICD10:G31.8 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Allan-Herndon-Dudley syndrome X-linked intellectual disability, Zorick type true @@ -226118,7 +228695,6 @@ OMIM:254500 UMLS:C0268381 Light-chain amyloidosis - Primary amyloidosis AL amyloidosis @@ -226144,7 +228720,6 @@ UMLS:C3536715 Inflammatory amyloidosis Reactive amyloidosis - Secondary amyloidosis AA amyloidosis @@ -226176,8 +228751,7 @@ - - + @@ -226257,9 +228831,8 @@ - - + @@ -226273,12 +228846,7 @@ ICD11:5D00.20 OMIM:105210 UMLS:C4275067 - ATTR cardiomyopathy ATTRV122I-related amyloidosis - TTR-related amyloid cardiomyopathy - TTR-related cardiac amyloidosis - Transthyretin amyloid cardiopathy - Transthyretin-related familial amyloid cardiomyopathy ATTRV122I amyloidosis @@ -226287,13 +228855,13 @@ - - + + @@ -226342,7 +228910,8 @@ OMIM:605714 UMLS:C1510489 HCHWA - Hereditary cerebral hemorrhage with amyloidosis + Hereditary cerebral hemorrhage with amyloidosis + Cerebral Amyloid Angiopathy @@ -226353,8 +228922,8 @@ ICD-10:E06.3 ICD10:E06.3 - Hashimoto hypothyroidism - Hashimoto struma + NON RARE IN EUROPE: Hashimoto hypothyroidism + NON RARE IN EUROPE: Hashimoto struma This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Hashimoto thyroiditis true @@ -226368,9 +228937,9 @@ ICD-10:F95.2 ICD10:F95.2 - GTS - Gilles de la Tourette syndrome - Tourette disease + NON RARE IN EUROPE: GTS + NON RARE IN EUROPE: Gilles de la Tourette syndrome + NON RARE IN EUROPE: Tourette disease This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Tourette syndrome true @@ -226381,19 +228950,13 @@ - - - - - - @@ -226742,7 +229305,7 @@ OMIM:168860 UMLS:C1868577 PTLAH - Patella aplasia/hypoplasia + Isolated patella aplasia/hypoplasia @@ -227192,9 +229755,9 @@ A rare hematological neoplasm characterized by clonal proliferation of myeloid precursors in the bone marrow, blood and other tissues (spleen, liver), with clinical, morphological and molecular features ofmyeloproliferative neoplasms (MPN), failing to meet criteria of a specific MPN. The presentation is nonspecific and variable and often includes leukocytosis, thrombocytosis and anemia. Splenomegaly, hepatomegaly as well as fatigue, malaise or weight loss may appear in advanced stages. ICD-10:D47.1 - ICD-11:2A44 + ICD-11:2A22 ICD10:D47.1 - ICD11:2A44 + ICD11:2A22 OMIM:131440 UMLS:C4757947 CMPD-U @@ -227281,8 +229844,11 @@ MeSH:D000754 MedDRA:10038270 UMLS:C0002894 + MDS with excess blasts + MDS-IB RAEB - Refractory anemia with excess blasts + Refractory anemia with excess blasts + Myelodysplastic neoplasm with increased blasts @@ -227322,7 +229888,6 @@ UMLS:C0334674 Acute myelodysplasia with myelofibrosis Acute myelofibrosis - Acute myelosclerosis Acute panmyelosis with myelofibrosis @@ -227550,14 +230115,10 @@ Heavy-chain diseases (HCDs) are rare monoclonal lymphoplasma-cell proliferative disorders involving B cells and are characterized by the synthesis of truncated heavy chains without associated light chains. ICD-10:C88.2 ICD-10:C88.3 - ICD-11:2A84.0 - ICD-11:2A84.1 - ICD-11:2A84.2 + ICD-11:2A84 ICD10:C88.2 ICD10:C88.3 - ICD11:2A84.0 - ICD11:2A84.1 - ICD11:2A84.2 + ICD11:2A84 MESH:D006362 MeSH:D006362 MedDRA:10019350 @@ -227803,8 +230364,10 @@ - Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is a rare cytotoxic cutaneous lymphoma that has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue. + A rare cytotoxic cutaneous alpha-beta T-cell lymphoma characterized by solitary or multiple erythematous subcutaneous nodules and plaques that can be localized to the lower extremities or generalized. It has been recognized as a distinct subset of peripheral T-cell lymphomas originating and presenting primarily in the subcutaneous fat tissue and often associated with hemophagocytic lymphohistiocytosis. + ICD-10:C86.3 ICD-11:2B00 + ICD10:C86.3 ICD11:2B00 MESH:C537503 MeSH:C537503 @@ -228649,9 +231212,9 @@ - ICD-10:D61.0 + ICD-10:D61.3 ICD-11:3A70.12 - ICD10:D61.0 + ICD10:D61.3 ICD11:3A70.12 MESH:C538494 MeSH:C538494 @@ -229212,7 +231775,6 @@ OMIM:615979 OMIM:616116 OMIM:616193 - OMIM:616459 OMIM:616460 OMIM:616739 OMIM:616887 @@ -229384,7 +231946,7 @@ - Tritanopia is an extremely rare form of colour blindness characterised by a selective deficiency of blue vision. + A rare form of colour blindness characterized by a selective deficiency of blue vision. ICD-10:H53.5 ICD-11:9D44 ICD10:H53.5 @@ -229497,8 +232059,6 @@ - ICD-10:I71.2 - ICD10:I71.2 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Familial thoracic aortic aneurysm and aortic dissection Aortic dilatation-joint hypermobility-arterial tortuosity syndrome true @@ -229759,6 +232319,7 @@ UMLS:C4225671 VACTERL association VATER association + Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association VACTERL/VATER association @@ -229897,6 +232458,7 @@ MESH:C536587 MeSH:C536587 OMIM:203780 + OMIM:620536 UMLS:C1567744 Autosomal recessive Alport syndrome @@ -230016,6 +232578,7 @@ MESH:C536137 MeSH:C536137 OMIM:174000 + UMLS:C1868139 ADTKD-MUC1 MCKD1 MUC1-related medullary cystic kidney disease @@ -230046,10 +232609,14 @@ MESH:C548033 MeSH:C548033 OMIM:162000 + UMLS:C1859040 ADTKD-UMOD + Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation Familial juvenile hyperuricemic nephropathy type 1 MCKD2 Medullary cystic kidney disease type 2 + UAKD + UMOD kidney disease UMOD-related ADTKD Uromodulin-associated kidney disease UMOD-related autosomal dominant tubulointerstitial kidney disease @@ -230338,7 +232905,6 @@ OMIM:193510 OMIM:600193 OMIM:606662 - OMIM:608890 OMIM:611584 OMIM:619947 UMLS:C2700265 @@ -230485,8 +233051,6 @@ - ICD-10:Q82.8 - ICD10:Q82.8 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Epidermolytic palmoplantar keratoderma Palmoplantar keratoderma with tonotubular keratin true @@ -230524,7 +233088,7 @@ - EBSS + OBSOLETE: EBSS This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Epidermolysis bullosa simplex OBSOLETE: Epidermolysis bullosa simplex superficialis true @@ -230536,7 +233100,7 @@ - JEN-nH + OBSOLETE: JEN-nH This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Intermediate generalized junctional epidermolysis bullosa OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type true @@ -230548,9 +233112,9 @@ - Centripetal dystrophic epidermolysis bullosa - Centripetal recessive dystrophic epidermolysis bullosa - RDEB, centripetalis + OBSOLETE: Centripetal dystrophic epidermolysis bullosa + OBSOLETE: Centripetal recessive dystrophic epidermolysis bullosa + OBSOLETE: RDEB, centripetalis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form OBSOLETE: Centripetalis recessive dystrophic epidermolysis bullosa true @@ -230752,12 +233316,6 @@ - - - - - - @@ -230892,9 +233450,7 @@ - ICD-10:N25.8 - ICD10:N25.8 - Renal tubular acidosis type 4 + NON RARE IN EUROPE: Renal tubular acidosis type 4 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Hyperkalemic renal tubular acidosis true @@ -231130,9 +233686,10 @@ ICD11:4B00.00 OMIM:610798 UMLS:C4305256 - Primary immunodeficiency syndrome due to p14 deficiency - Primary immunodeficiency syndrome with short stature - Primary immunodeficiency syndrome due to LAMTOR2 deficiency + Primary immunodeficiency syndrome due to LAMTOR2 deficiency + Primary immunodeficiency syndrome due to P14 deficiency + Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency + Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency @@ -231804,7 +234361,7 @@ - Methotrexate intoxication + OBSOLETE: Methotrexate intoxication This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Methotrexate toxicity OBSOLETE: Methotrexate poisoning true @@ -231873,6 +234430,7 @@ + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare intoxication due to medical products OBSOLETE: Anthracycline extravasation true @@ -231902,11 +234460,12 @@ A rare condition associated with acquired immunodeficiency syndrome (AIDS) and characterized by unwanted weight loss (involving both fat and muscle) of more than ten percent of body weight, with either diarrhea or weakness and fever which have lasted at least 30 days and are not related to an infection. ICD-10:B22.2 - ICD-11:1C62.3 + ICD-11:1C62.3Y ICD10:B22.2 - ICD11:1C62.3 + ICD11:1C62.3Y MESH:D019247 MeSH:D019247 + MedDRA:10050309 UMLS:C0343755 AIDS wasting syndrome @@ -232227,8 +234786,6 @@ - ICD-10:Q82.8 - ICD10:Q82.8 Meige-like disease This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Meige disease Non-hereditary late-onset primary lymphedema @@ -232415,7 +234972,7 @@ - Localized scleroderma is the skin localized form of scleroderma (see this term) characterized by fibrosis of the skin causing cutaneous plaques or strips. + A rare skin disease characterized by inflammatory and sclerosing disease affecting the skin and underlying connective tissues (subcutaneous tissue, fascia, muscle or bone). It causes cutaneous patches or bands of skin inflammation and thickness affecting the head, neck region, trunk and extremities. ICD-10:L94.0 ICD-11:EB61.0 ICD10:L94.0 @@ -232435,9 +234992,7 @@ ICD-10:M34.1 - ICD-11:4A42.2 ICD10:M34.1 - ICD11:4A42.2 MESH:D017675 MeSH:D017675 MedDRA:10011380 @@ -232558,7 +235113,13 @@ - A rare congenital complex vascular malformation syndrome characterized by capillary malformations manifesting as port-wine stains and venous varicosities typically prominent along the lateral aspect of the lower extremities, associated with overgrowth of a limb (most commonly a leg), more rarely other regions of the body, involving bone and/or soft tissue. The diagnosis is usually made when at least 2 of these 3 features exist. Lymphatic malformations are also observed, while arteriovenous fistulas are absent. Patients present recurrent painful thrombophlebitis, venous thrombosis, and sudden venous hemorrhage. + + + + + + + A rare congenital complex vascular malformation syndrome characterized by capillary malformations manifesting as wine stains and venous varicosities typically prominent along the lateral aspect of the lower extremities, associated with overgrowth of a limb (most commonly a leg, less frequently other regions of the body), involving bone and/or soft tissues. The diagnosis is usually made in presence of at least two of these three features. Lymphatic malformations are also observed, while arteriovenous fistulas are absent. Patients present recurrent painful thrombophlebitis, venous thrombosis, and sudden venous hemorrhage. ICD-10:Q87.2 ICD-11:LD26.60 ICD10:Q87.2 @@ -232574,7 +235135,7 @@ - EDS I + OBSOLETE: EDS I This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Classical Ehlers-Danlos syndrome OBSOLETE: Ehlers-Danlos syndrome type 1 true @@ -232586,7 +235147,7 @@ - EDS II + OBSOLETE: EDS II This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Classical Ehlers-Danlos syndrome OBSOLETE: Ehlers-Danlos syndrome type 2 true @@ -232701,8 +235262,6 @@ - ICD-10:Q82.4 - ICD10:Q82.4 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cleft lip/palate-ectodermal dysplasia syndrome Margarita island ectodermal dysplasia true @@ -232762,9 +235321,6 @@ - ICD-10:D89.8 - ICD10:D89.8 - OMIM:186580 UMLS:C1836122 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Blau syndrome Early-onset sarcoidosis @@ -234345,6 +236901,7 @@ ICD-11:LD2H ICD11:LD2H + UMLS:C0395976 Syndromic genetic hearing loss Syndromic genetic deafness @@ -234414,8 +236971,6 @@ - ICD-10:Q87.0 - ICD10:Q87.0 OMIM:608518 UMLS:C0796100 OFD7 @@ -234686,9 +237241,7 @@ - ICD-10:I45.6 - ICD10:I45.6 - Ventricular familial preexcitation syndrome + NON RARE IN EUROPE: Ventricular familial preexcitation syndrome This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Wolff-Parkinson-White syndrome true @@ -235164,7 +237717,6 @@ MESH:D014983 MeSH:D014983 MedDRA:10048220 - OMIM:194400 OMIM:278700 OMIM:278720 OMIM:278730 @@ -235260,8 +237812,6 @@ - ICD-10:Q11.2 - ICD10:Q11.2 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Matthew-Wood syndrome Anophthalmia-heart and pulmonary anomalies-intellectual disability syndrome true @@ -235366,7 +237916,7 @@ - Osteopenia-myopia-deafness-intellectual disability-facial dysmorphism syndrome + OBSOLETE: Osteopenia-myopia-deafness-intellectual disability-facial dysmorphism syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome OBSOLETE: Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome true @@ -235420,7 +237970,7 @@ - + Immunotactoid or fibrillary glomerulopathy is a group of very rare glomerular diseases, composed of immunotactoid glomerulopathy (ITG) and non-amyloid fibrillary glomerulopathy (non-amyloid FGP) (see these terms), that are characterized by mesangial deposition of monoclonal microtubular or polyclonal fibrillar deposits. Both present clinically with nephrotic range proteinuria, hematuria and renal insufficiency leading to renal failure in many cases. ITG is more likely to manifest with underlying lymphoproliferative disease, hypocomplementemia, dysproteinemia, monoclonal gammopathy or occult cryoglobulinemia. Non-amyloid FGP is 10 times more frequent than ITG. UMLS:C5680195 Immunotactoid or fibrillary glomerulonephritis @@ -235754,6 +238304,7 @@ ICD-11:2A00.1Y ICD10:C72.9 ICD11:2A00.1Y + MedDRA:10065852 UMLS:C1333813 Germinoma of the central nervous system @@ -235811,6 +238362,7 @@ + UMLS:C0266135 Duplication of the esophagus @@ -235875,7 +238427,7 @@ - Acquired ciliary dyskinesia + OBSOLETE: Acquired ciliary dyskinesia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary ciliary dyskinesia OBSOLETE: Secondary ciliary dyskinesia true @@ -236142,7 +238694,7 @@ - Marcus-Gunn syndrome is characterised by ptosis associated with maxillopalpebral synkinesis. + A rare ophthalmic disorder characterized by congenital ptosis associated with pterygoid-levator synkinesis (also called jaw-winking). ICD-10:Q07.8 ICD-11:9A03.00 ICD10:Q07.8 @@ -236175,6 +238727,7 @@ ICD11:8D8A.1 MESH:C564178 MeSH:C564178 + MedDRA:10074554 OMIM:143000 UMLS:C1840475 Congenital Claude-Bernard-Horner syndrome @@ -236427,7 +238980,7 @@ OMIM:616509 OMIM:616851 UMLS:C0009691 - Early-onset non-syndromic cataract + Early onset non-syndromic cataract @@ -237002,8 +239555,8 @@ MeSH:C536014 OMIM:200500 UMLS:C0265559 - Acheiropody - Acheiropodia + Isolated acheiropody + Isolated acheiropodia @@ -237405,7 +239958,7 @@ - Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis + OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental glomerulosclerosis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Idiopathic steroid-sensitive nephrotic syndrome OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with focal segmental hyalinosis true @@ -237417,7 +239970,7 @@ - Steroid-sensitive MCNS + OBSOLETE: Steroid-sensitive MCNS This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Idiopathic steroid-sensitive nephrotic syndrome OBSOLETE: Idiopathic steroid-sensitive nephrotic syndrome with minimal change true @@ -237440,7 +239993,7 @@ - Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis + OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Genetic steroid-resistant nephrotic syndrome OBSOLETE: Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis true @@ -237485,7 +240038,7 @@ - Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis + OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Genetic steroid-resistant nephrotic syndrome OBSOLETE: Sporadic idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis true @@ -237858,8 +240411,6 @@ - ICD-10:Q78.8 - ICD10:Q78.8 MESH:C536506 MeSH:C536506 OMIM:273680 @@ -237948,8 +240499,6 @@ - ICD-10:Q74.8 - ICD10:Q74.8 MESH:C535789 MeSH:C535789 UMLS:C1837657 @@ -237992,9 +240541,9 @@ - + @@ -238192,8 +240741,6 @@ - ICD-10:Q76.3 - ICD10:Q76.3 OMIM:271530 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal recessive brachyolmia Brachyolmia type 1, Hobaek type @@ -238227,8 +240774,6 @@ - ICD-10:Q76.3 - ICD10:Q76.3 OMIM:271630 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Autosomal recessive brachyolmia Brachyolmia type 1, Toledo type @@ -238490,10 +241035,11 @@ ICD10:Q71.5 ICD11:LB99.3 UMLS:C0265583 - Congenital longitudinal deficiency of the ulna - Ulnar clubhand - Ulnar longitudinal meromelia - Ulnar hemimelia + Isolated congenital longitudinal deficiency of the ulna + Isolated ulnar clubhand + Isolated ulnar deficiency of forearm + Isolated ulnar longitudinal meromelia + Isolated ulnar hemimelia @@ -238522,11 +241068,11 @@ ICD10:Q71.4 ICD11:LB99.2 UMLS:C0265581 - Congenital longitudinal deficiency of the radius - Radial clubhand - Radial longitidinal meromelia - Radial ray agenesis - Radial hemimelia + Isolated congenital longitudinal deficiency of the radius + Isolated radial club hand + Isolated radial longitidinal meromelia + Isolated radial ray agenesis + Isolated radial hemimelia @@ -238552,11 +241098,11 @@ MeSH:C535563 OMIM:275220 UMLS:C0265633 - Congenital absence of tibia - Congenital aplasia and dysplasia of the tibia with intact fibula - Congenital longitudinal deficiency of the tibia - Tibial longitudinal meromelia - Tibial hemimelia + Isolated congenital absence of tibia + Isolated congenital aplasia and dysplasia of the tibia with intact fibula + Isolated congenital longitudinal deficiency of the tibia + Isolated tibial longitudinal meromelia + Isolated tibial hemimelia @@ -238573,9 +241119,10 @@ ICD10:Q72.6 ICD11:LB9A.2 UMLS:C0265634 - Congenital longitudinal deficiency of the fibula - Fibular longitudinal meromelia - Fibular hemimelia + Isolated congenital longitudinal deficiency of the fibula + Isolated fibular deficiency + Isolated fibular longitudinal meromelia + Isolated fibular hemimelia @@ -238670,6 +241217,7 @@ MESH:C537746 MeSH:C537746 OMIM:258315 + UMLS:C1850318 Micromelic dysplasia-dislocation of radius syndrome Autosomal recessive omodysplasia @@ -238921,6 +241469,8 @@ ICD-11:LD24.3 ICD10:Q77.7 ICD11:LD24.3 + MESH:C537501 + MeSH:C537501 OMIM:184250 UMLS:C5681459 Spondyloepimetaphyseal dysplasia congenita, Strudwick type @@ -239287,8 +241837,6 @@ - ICD-10:Q73.8 - ICD10:Q73.8 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Brachydactyly type D true @@ -239375,8 +241923,6 @@ - ICD-10:Q73.8 - ICD10:Q73.8 UMLS:C1862138 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Brachydactyly type B Brachydactyly type A5 @@ -239389,10 +241935,8 @@ - ICD-10:Q73.8 - ICD10:Q73.8 - Brachydactyly-clinodactyly - Brachymesophalangy V + NON RARE IN EUROPE: Brachydactyly-clinodactyly + NON RARE IN EUROPE: Brachymesophalangy V This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Brachydactyly type A3 true @@ -239426,8 +241970,6 @@ - ICD-10:Q73.8 - ICD10:Q73.8 OMIM:112440 UMLS:C1862163 Brachydactyly, combined B and E types @@ -239776,10 +242318,10 @@ - - - UMLS:C5681608 - Perlecan-related bone disorder + + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Proteoglycan-related bone disorder + OBSOLETE: Perlecan-related bone disorder + true @@ -239855,6 +242397,7 @@ ICD-11:LD24.5 ICD11:LD24.5 + UMLS:C4736216 Spondylodysplastic dysplasia @@ -239878,6 +242421,7 @@ ICD-11:LD24.8 ICD11:LD24.8 + UMLS:C4736195 Acromelic dysplasia @@ -239933,6 +242477,7 @@ ICD-11:LD24.D ICD11:LD24.D + UMLS:C4736215 Slender bone dysplasia @@ -240134,7 +242679,7 @@ - Brachydactyly with or without extraskeletal manifestations + OBSOLETE: Brachydactyly with or without extraskeletal manifestations This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Dysostosis with brachydactyly OBSOLETE: Brachydactyly group true @@ -240331,6 +242876,7 @@ ICD10:E76.0 ICD11:5C56.30 OMIM:607016 + UMLS:C0026708 MPS1S MPSIS Mucopolysaccharidosis type 1S @@ -240593,8 +243139,6 @@ - ICD-10:NO3.5 - ICD10:NO3.5 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to C3 glomerulonephritis C3 deposition glomerulonephritis without proliferation true @@ -240689,7 +243233,7 @@ - PAN, pediatric onset + OBSOLETE: PAN, pediatric onset This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Polyarteritis nodosa OBSOLETE: Pediatric polyarteritis nodosa true @@ -240701,6 +243245,7 @@ + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Primary Sjögren syndrome OBSOLETE: Pediatric Sjögren syndrome true @@ -240711,7 +243256,7 @@ - Pediatric systemic scleroderma + OBSOLETE: Pediatric systemic scleroderma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Systemic sclerosis OBSOLETE: Pediatric systemic sclerosis true @@ -240744,20 +243289,13 @@ - - - - A rare rheumatologic disease characterized by bilateral morning stiffness which lasts > 45-60 min of duration associated with a subacute-onset of severe pain with active movements, typically affecting the shoulders, proximal upper limbs, neck and/or, less commonly, the pelvic girdle and proximal aspects of thighs, which are exacerbated with inactivity and improve progressively over the day. Muscle tenderness, peripheral synovitis, arthritis, carpal tunnel syndrome or distal tenosynovitis, as well as non-specific symptoms, such as fatigue, asthenia, malaise, low-grade fever, anorexia and weight loss, may be associated. Acute phase reactants (erythrocyte sedimentation rate, C-reactive protein) are increased. - ICD-10:M35.3 + ICD-11:FA22 - ICD10:M35.3 ICD11:FA22 - MESH:D011111 - MeSH:D011111 - MedDRA:10036099 - UMLS:C0032533 - Rhizomelic pseudopolyarthritis - Polymyalgia rheumatica + NON RARE IN EUROPE: Rhizomelic pseudopolyarthritis + This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. + NON RARE IN EUROPE: Polymyalgia rheumatica + true @@ -240811,10 +243349,10 @@ - Atypical HUS with C3 anomaly - D- HUS with C3 anomaly - Hemolytic uremic syndrome without diarrhea with C3 anomaly - aHUS with C3 anomaly + OBSOLETE: Atypical HUS with C3 anomaly + OBSOLETE: D- HUS with C3 anomaly + OBSOLETE: Hemolytic uremic syndrome without diarrhea with C3 anomaly + OBSOLETE: aHUS with C3 anomaly This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Atypical hemolytic uremic syndrome with complement gene abnormality OBSOLETE: Atypical hemolytic uremic syndrome with C3 anomaly true @@ -240826,10 +243364,10 @@ - Atypical HUS with MCP/CD46 anomaly - D- HUS with MCP/CD46 anomaly - Hemolytic uremic syndrome without diarrhea with MCP/CD46 anomaly - aHUS with MCP/CD46 anomaly + OBSOLETE: Atypical HUS with MCP/CD46 anomaly + OBSOLETE: D- HUS with MCP/CD46 anomaly + OBSOLETE: Hemolytic uremic syndrome without diarrhea with MCP/CD46 anomaly + OBSOLETE: aHUS with MCP/CD46 anomaly This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Atypical hemolytic uremic syndrome with complement gene abnormality OBSOLETE: Atypical hemolytic uremic syndrome with MCP/CD46 anomaly true @@ -240841,10 +243379,10 @@ - Atypical HUS with B factor anomaly - D- HUS with B factor anomaly - Hemolytic uremic syndrome without diarrhea with B factor anomaly - aHUS with B factor anomaly + OBSOLETE: Atypical HUS with B factor anomaly + OBSOLETE: D- HUS with B factor anomaly + OBSOLETE: Hemolytic uremic syndrome without diarrhea with B factor anomaly + OBSOLETE: aHUS with B factor anomaly This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Atypical hemolytic uremic syndrome with complement gene abnormality OBSOLETE: Atypical hemolytic uremic syndrome with B factor anomaly true @@ -240856,10 +243394,10 @@ - Atypical HUS with H factor anomaly - D- HUS with H factor anomaly - Hemolytic uremic syndrome without diarrhea with H factor anomaly - aHUS with H factor anomaly + OBSOLETE: Atypical HUS with H factor anomaly + OBSOLETE: D- HUS with H factor anomaly + OBSOLETE: Hemolytic uremic syndrome without diarrhea with H factor anomaly + OBSOLETE: aHUS with H factor anomaly This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Atypical hemolytic uremic syndrome with complement gene abnormality OBSOLETE: Atypical hemolytic uremic syndrome with H factor anomaly true @@ -240871,11 +243409,11 @@ - Atypical HUS with I factor anomaly - D- HUS with I factor anomaly - Hemolytic uremic syndrome without diarrhea with I factor anomaly - Partial factor I deficiency - aHUS with I factor anomaly + OBSOLETE: Atypical HUS with I factor anomaly + OBSOLETE: D- HUS with I factor anomaly + OBSOLETE: Hemolytic uremic syndrome without diarrhea with I factor anomaly + OBSOLETE: Partial factor I deficiency + OBSOLETE: aHUS with I factor anomaly This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Atypical hemolytic uremic syndrome with complement gene abnormality OBSOLETE: Atypical hemolytic uremic syndrome with I factor anomaly true @@ -240888,30 +243426,6 @@ - - - - - - - - - - - - - - - - - - - - - - - - ICD-10:D58.8 ICD-11:3A21.Y ICD10:D58.8 @@ -241255,6 +243769,7 @@ ICD10:E74.8 ICD11:5C51.2Y OMIM:613616 + UMLS:C3150878 Primary hyperoxaluria type 3 @@ -241333,9 +243848,9 @@ - Bartter syndrome, furosemide type - Bartter syndrome, furosemide-amiloride type - Hyperprostaglandin E syndrome + OBSOLETE: Bartter syndrome, furosemide type + OBSOLETE: Bartter syndrome, furosemide-amiloride type + OBSOLETE: Hyperprostaglandin E syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Bartter syndrome OBSOLETE: Antenatal Bartter syndrome true @@ -241453,8 +243968,6 @@ - ICD-10:N25.8 - ICD10:N25.8 AR dRTA without deafness AR dRTA without hearing loss Autosomal recessive distal renal tubular acidosis without hearing loss @@ -241496,8 +244009,6 @@ - ICD-10:N25.8 - ICD10:N25.8 UMLS:C0403554 AR dRTA with deafness AR dRTA with hearing loss @@ -241705,7 +244216,7 @@ - Adult CRMO + OBSOLETE: Adult CRMO This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis OBSOLETE: Adult chronic recurrent multifocal osteomyelitis true @@ -241752,7 +244263,7 @@ - A rare benign lymphoproliferative disorder characterized by involvement of a single lymph node or a group of lymph nodes in one lymph node station (most commonly in the mediastinum, neck, abdomen, or retroperitoneum). Histopathologically, it may occur as a hyaline vascular subtype with hyaline-vascular follicles and a fibrotic and hypervascular stroma with sinus compression, or a mixed/plasmacytic subtype with dense, interfollicular sheets of (usually polytypic) plasma cells extending to the cortex, and variably sized lymphoid follicles including some with regressive changes. Clinically, most patients are asymptomatic, and lesions are detected incidentally. + A rare lymphoid hemopathy characterized by involvement of a single lymph node or a group of lymph nodes in one lymph node station (most commonly in the mediastinum, neck, abdomen, or retroperitoneum). Histopathologically, it may occur as a hyaline vascular subtype with hyaline-vascular follicles and a fibrotic and hypervascular stroma with sinus compression, or a mixed/plasmacytic subtype with dense, interfollicular sheets of (usually polytypic) plasma cells extending to the cortex, and variably sized lymphoid follicles including some with regressive changes. Clinically, most patients are asymptomatic, and lesions are detected incidentally. ICD-10:D47.7 ICD-11:4B2Y ICD10:D47.7 @@ -241767,8 +244278,8 @@ - MCD - Multicentric giant lymph node hyperplasia + OBSOLETE: MCD + OBSOLETE: Multicentric giant lymph node hyperplasia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Castleman disease OBSOLETE: Multicentric Castleman disease true @@ -242189,6 +244700,7 @@ OMIM:157170 OMIM:609637 OMIM:610829 + UMLS:C5396362 MIH MIH type HPE MIHF @@ -242297,8 +244809,8 @@ - Congenital limb amputation - This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Terminal transverse limb defect + OBSOLETE: Congenital limb amputation + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Non-syndromic terminal transverse limb defect OBSOLETE: Terminal transverse defects of arm true @@ -242315,6 +244827,7 @@ ICD-11:LA72 ICD10:Q32.1 ICD11:LA72 + UMLS:C0584823 LTEC I LTEC1 Laryngo-tracheo-esophageal cleft type 1 @@ -242333,6 +244846,7 @@ ICD-11:LA72 ICD10:Q32.1 ICD11:LA72 + UMLS:C0584824 LTEC II LTEC2 Laryngo-tracheo-esophageal cleft type 2 @@ -242352,6 +244866,7 @@ ICD10:Q32.1 ICD11:LA72 OMIM:215800 + UMLS:C0584825 LTEC III LTEC3 Laryngo-tracheo-esophageal cleft type 3 @@ -242370,6 +244885,7 @@ ICD-11:LA72 ICD10:Q32.1 ICD11:LA72 + UMLS:C0584827 LTEC IV LTEC4 Laryngo-tracheo-esophageal cleft type 4 @@ -242393,8 +244909,6 @@ - ICD-10:Q04.4 - ICD10:Q04.4 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Septo-optic dysplasia spectrum Corpus callosum dysgenesis-hypopituitarism syndrome true @@ -242406,8 +244920,6 @@ - ICD-10:Q87.8 - ICD10:Q87.8 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to X-linked intellectual disability, Sutherland-Haan type X-linked intellectual disability, Fichera type true @@ -242529,7 +245041,9 @@ X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported. + ICD-10:G25.8 ICD-11:LD90 + ICD10:G25.8 ICD11:LD90 MESH:C564516 MeSH:C564516 @@ -242566,7 +245080,7 @@ - Primary blepharospasm + OBSOLETE: Primary blepharospasm This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Focal, segmental or multifocal dystonia OBSOLETE: Benign essential blepharospasm true @@ -242618,8 +245132,8 @@ - Laryngeal dystonia - Spasmodic dysphonia + OBSOLETE: Laryngeal dystonia + OBSOLETE: Spasmodic dysphonia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Focal, segmental or multifocal dystonia OBSOLETE: Laryngeal dyskinesia true @@ -242642,9 +245156,9 @@ - Adult-onset focal torsion dystonia - Adult-onset idiopathic torsion dystonia - DYT7 + OBSOLETE: Adult-onset focal torsion dystonia + OBSOLETE: Adult-onset idiopathic torsion dystonia + OBSOLETE: DYT7 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Focal, segmental or multifocal dystonia OBSOLETE: Autosomal dominant focal dystonia, DYT7 type true @@ -242678,8 +245192,6 @@ - ICD-10:Q05 - ICD10:Q05 MESH:D008588 MeSH:D008588 MedDRA:10027266 @@ -242731,8 +245243,6 @@ - ICD-10:D56.0 - ICD10:D56.0 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Alpha-thalassemia-X-linked intellectual disability syndrome Holmes-Gang syndrome true @@ -242744,8 +245254,6 @@ - ICD-10:D56.0 - ICD10:D56.0 Chudley-Lowry syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Alpha-thalassemia-X-linked intellectual disability syndrome Chudley-Lowry-Hoar syndrome @@ -242758,10 +245266,6 @@ - ICD-10:F84.8 - ICD10:F84.8 - MESH:C537457 - MeSH:C537457 UMLS:C0796003 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Non-specific syndromic intellectual disability Juberg-Marsidi syndrome @@ -242774,8 +245278,6 @@ - ICD-10:D56.0 - ICD10:D56.0 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Alpha-thalassemia-X-linked intellectual disability syndrome Carpenter-Waziri syndrome true @@ -242787,8 +245289,6 @@ - ICD-10:D56.0 - ICD10:D56.0 UMLS:C0796159 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Alpha-thalassemia-X-linked intellectual disability syndrome Smith-Fineman-Myers syndrome @@ -242858,8 +245358,8 @@ ICD10:Q74.0 ICD11:LB90.2 UMLS:C0431799 - Humero-ulnar fusion - Humero-ulnar synostosis + Isolated congenital humeroulnar fusion + Isolated humero-ulnar synostosis @@ -242916,8 +245416,6 @@ - ICD-10:E88.8 - ICD10:E88.8 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome true @@ -243121,9 +245619,6 @@ - ICD-10:Q04.3 - ICD10:Q04.3 - OMIM:243310 UMLS:C1853623 Fryns-Aftimos syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Baraitser-Winter cerebrofrontofacial syndrome @@ -243139,7 +245634,7 @@ - Blue Diaper syndrome is a hereditary metabolic disorder characterised by hypercalcaemia with nephrocalcinosis and indicanuria. + A rare inborn error of metabolism characterized by early-onset diarrhea, fever, recurrent hypoglycemia, hypercalcemia with nephrocalcinosis, metabolic acidosis, and indicanuria due to bacterial degradation of malabsorbed tryptophan with excessive indole production which, upon oxidation to indigo blue, causes bluish discoloration of urine spots in the diaper of the affected infant. ICD-10:E70.8 ICD-11:5C60.Y ICD10:E70.8 @@ -243166,6 +245661,7 @@ ICD-11:EE8Y ICD10:M35.8 ICD11:EE8Y + MedDRA:10081137 UMLS:C0406594 CHP Winkelmann cytophagic panniculitis @@ -243304,7 +245800,7 @@ - Casamassima-Morton-Nance syndrome + OBSOLETE: Casamassima-Morton-Nance syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Dysostosis with predominant vertebral and costal involvement OBSOLETE: Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome true @@ -243503,6 +245999,7 @@ ICD10:Q84.3 ICD11:EC22.0 OMIM:206800 + UMLS:C3277900 Anonychia congenita totalis @@ -243529,6 +246026,9 @@ MeSH:C535702 OMIM:248360 UMLS:C0342793 + Deficiency of malonyl-CoA decarboxylase + MLYCD deficiency + Malonic acidemia Malonyl-CoA decarboxylase deficiency Malonic aciduria @@ -243541,7 +246041,7 @@ - A rare malformation characterized by missing scalp and flat bones over an area of the cranial vault. The size of the affected area is variable. In rare cases, acalvaria involves the whole of the dome-like superior portion of the cranium comprising the frontal, parietal, and occipital bones. Dura mater and associated muscles are absent in the affected area but the central nervous system is usually unaffected, although some neuropathological abnormality is often present (<i>e.g.</i> holoprosencephaly or gyration anomalies). Skull base and facial bones are normal. + A rare congenital malformation characterized by the absence of calvarial bones, dura mater and associated muscles while skull base, facial bones and brain structures are normal. Central nervous system is usually unaffected, however some neuropathological abnormalities such as holoprosencephaly, hydrocephalus, micropolygyria and gyration anomalies can be present. Prenatal diagnosis by ultrasonography is usually confirmed by magnetic resonance imaging as it can be confused with anencephaly or encephalocele. ICD-10:Q00.0 ICD-11:LA00.0Y ICD10:Q00.0 @@ -243559,7 +246059,7 @@ - Acrocephalosyndactylia + OBSOLETE: Acrocephalosyndactylia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Syndromic craniosynostosis OBSOLETE: Acrocephalosyndactyly true @@ -243626,9 +246126,11 @@ + + @@ -243665,11 +246167,11 @@ - + - - A rare sub-group of porphyrias characterized by the occurrence of neuro-visceral attacks with or without cutaneous manifestations. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (the most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (extremely rare). + + A subgroup of porphyria characterized by the occurrence of neurovisceral attacks with or without cutaneous signs. They encompass four diseases: acute intermittent porphyria (PAI; the most common), variegate porphyria (VP), hereditary coproporphyria (HC), and hereditary delta-aminolevulinic acid dehydratase deficiency (ADP; extremely rare). ICD-11:5C58.1Y ICD11:5C58.1Y MESH:C562618 @@ -243684,14 +246186,14 @@ - + - A rare form of chronic hepatic porphyria characterized by bullous photodermatitis. + A rare form of hepatic porphyria characterized by bullous photodermatosis. ICD-10:E80.2 ICD-11:5C58.1Y ICD10:E80.2 @@ -243709,12 +246211,10 @@ - - - - Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms). - UMLS:C5681578 - Chronic hepatic porphyria + + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Hepatic porphyria + OBSOLETE: Chronic hepatic porphyria + true @@ -243806,6 +246306,7 @@ ICD-11:5A74.1 ICD10:E27.2 ICD11:5A74.1 + MedDRA:10001389 UMLS:C0151467 Acute adrenal failure Acute adrenocortical insufficiency @@ -243889,6 +246390,7 @@ ICD-11:LC50.Y ICD10:L81.7 ICD11:LC50.Y + MedDRA:10086217 OMIM:106050 OMIM:300652 UMLS:C0263637 @@ -244080,6 +246582,7 @@ + A rare toxic dermatosis with clinical and histological features characterized by the destruction and detachment of the skin epithelium and mucous membranes. ICD-10:L51.2 @@ -244284,9 +246787,7 @@ - ICD-10:Q24.8 - ICD10:Q24.8 - Atypical patent ductus arteriosus + NON RARE IN EUROPE: Atypical patent ductus arteriosus This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Atypical arterial duct true @@ -244385,7 +246886,7 @@ - Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies, due to mutations of pituitary transcription factors involved in pituitary ontogenesis. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. + Congenital hypopituitarism is characterized by multiple pituitary hormone deficiency, including somatotroph, thyrotroph, lactotroph, corticotroph or gonadotroph deficiencies. Congenital hypopituitarism is rare compared with the high incidence of hypopituitarism induced by pituitary adenomas, transsphenoidal surgery or radiotherapy. ICD-10:E23.0 ICD10:E23.0 OMIM:182230 @@ -244675,8 +247176,6 @@ - ICD-10:Q87.8 - ICD10:Q87.8 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Poland syndrome Acropectororenal dysplasia true @@ -244832,7 +247331,7 @@ UMLS:C5680256 Acquired CDI Acquired neurogenic diabetes insipidus - Acquired central diabetes insipidus + Acquired arginine vasopressin deficiency @@ -244841,9 +247340,7 @@ - ICD-10:E25.0 - ICD10:E25.0 - NCAH + NON RARE IN EUROPE: NCAH This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency true @@ -245036,7 +247533,7 @@ ICD-10:E28.8 ICD10:E28.8 UMLS:C4303540 - Acquired premature ovarian failure + Rare acquired premature ovarian failure @@ -245050,7 +247547,7 @@ ICD-10:E28.3 ICD10:E28.3 UMLS:C5681564 - Non-acquired premature ovarian failure + Rare non-acquired premature ovarian failure @@ -246138,8 +248635,8 @@ - Non-distal deletion 7p - Non-telomeric monosomy 7p + OBSOLETE: Non-distal deletion 7p + OBSOLETE: Non-telomeric monosomy 7p This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Partial deletion of the short arm of chromosome 7 OBSOLETE: Non-distal monosomy 7p true @@ -246260,9 +248757,9 @@ - Distal deletion 20q - Monosomy 20qter - Telomeric deletion 20q + OBSOLETE: Distal deletion 20q + OBSOLETE: Monosomy 20qter + OBSOLETE: Telomeric deletion 20q This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using 20q13.33 microdeletion syndrome OBSOLETE: Distal monosomy 20q true @@ -246291,8 +248788,8 @@ - Non-distal deletion 20q - Non-telomeric monosomy 20q + OBSOLETE: Non-distal deletion 20q + OBSOLETE: Non-telomeric monosomy 20q This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using 20q11.2 microdeletion syndrome OBSOLETE: Non-distal monosomy 20q true @@ -246407,7 +248904,9 @@ Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterized by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (incl. microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism). ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y UMLS:C4707448 Ring 2 Ring chromosome 2 @@ -246424,7 +248923,9 @@ Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (incl. triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodacytyly, brachydactyly), café-au-lait patches and hypospadias. ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y UMLS:C4707449 Ring 3 Ring chromosome 3 @@ -246441,7 +248942,9 @@ A rare autosomal anomaly characterized by variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies, and variable genital, limb and skeletal anomalies. ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y MESH:C538022 MeSH:C538022 UMLS:C0265430 @@ -246460,7 +248963,9 @@ A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and café-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y UMLS:C0265444 RC11 Ring 11 @@ -246480,7 +248985,9 @@ A rare chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia. ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y MESH:C538303 MeSH:C538303 UMLS:C0795847 @@ -246499,7 +249006,9 @@ A rare chromosomal anomaly syndrome, with a highly variable phenotype, characterized by pre- and/or postnatal growth retardation, variable intellectual disability, short stature, dysmorphic features (microcephaly, triangular facies, frontal bossing, hypertelorism, ear anomaly, broad nasal bridge, highly arched palate, micrognathism), hand and feet anomalies (e.g. brachydactyly, clinodactyly, syndactyly), and multiple hyperpigmented and/or hypopigmented spots. Severe phenotypes present with cardiac abnormalities and/or renal malformations. Other reported features include hypotonia, speech delay, talipes equinovarus, and genital anomalies (cryptorchidism and hypospadias). ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y MESH:C538035 MeSH:C538035 UMLS:C0795855 @@ -246518,7 +249027,9 @@ A rare chromosomal anomaly syndrome, resulting from the partial deletion of chromosome 16, characterized by pre- and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecantus, low set and dysmorphic ears, broad flat nasal bridge, down-turned mouth corners, high palate, retrognathia). Patients may also present congenital cataract, mild synophrys, hypotonia, and poor social contact. Congenital heart anomalies (e.g. ventricular septal defect, patent ductus arteriosus) have also been reported. ICD-10:Q93.2 + ICD-11:LD7Y ICD10:Q93.2 + ICD11:LD7Y UMLS:C4706449 Ring 16 Ring chromosome 16 @@ -246910,7 +249421,7 @@ - Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma. + A form of adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome, an endogenous Cushing syndrome (CS), characterized by chronic over-secretion of adrenocorticotropic hormone (ACTH) due to a pituitary corticotroph adenoma. ICD-10:D35.2 ICD-10:E24.0 ICD-11:5A70.0 @@ -247494,8 +250005,6 @@ - ICD-10:L90.5 - ICD10:L90.5 MedDRA:10071570 UMLS:C1274789 Conjunctivitis lignosa @@ -247546,11 +250055,18 @@ ICD11:5C51.3 OMIM:261670 UMLS:C0268149 - GSD due to phosphoglycerate mutase deficiency + DiMauro disease + GSD due to phosphoglycerate mutase 2 deficiency GSD type 10 - Glycogenosis due to phosphoglycerate mutase deficiency + Glycogen storage disease due to PGAM2 deficiency + Glycogen storage disease due to phosphoglycerate mutase 2 deficiency + Glycogen storage disease, type 10 + Glycogen storage disease, type X + Glycogenosis due to phosphoglycerate mutase 2 deficiency Muscle phosphoglycerate mutase deficiency Myopathy due to phosphoglycerate mutase deficiency + PGAM deficiency + PGAM-M deficiency Glycogen storage disease due to phosphoglycerate mutase deficiency @@ -247750,7 +250266,6 @@ Pancreatic endocrine tumor, also known as pancreatic neuroendocrine tumor (PNET), describes a group of endocrine tumors originating in the pancreas that are usually indolent and benign, but may have the potential to be malignant. They can be functional, exhibiting a hormonal hypersecretion syndrome, but can be non-functional presenting with non-specific symptoms and include insulinoma, glucagonoma, VIPoma, somatostatinoma (SSoma), PPoma and Zollinger-Ellison syndrome (ZES, or gastrinoma) and other ectopic hormone producing tumors (such as GRFoma) (see these terms). ICD-11:2C10.1 ICD11:2C10.1 - UMLS:C4305467 PNET Pancreatic NET Pancreatic neuroendocrine tumor @@ -248069,11 +250584,8 @@ - ICD-10:Q87.4 - ICD10:Q87.4 MESH:C538192 MeSH:C538192 - OMIM:609192 UMLS:C2931764 Marfanoid habitus-craniosynostosis syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Loeys-Dietz syndrome @@ -248128,10 +250640,10 @@ MESH:C562417 MeSH:C562417 OMIM:102650 - Adactyly of hand, unilateral - Digits 2-5 hypodactyly, unilateral - Digits 2-5 oligodactyly, unilateral - Congenital absence/hypoplasia of fingers excluding thumb, unilateral + Isolated congenital adactyly of hand, unilateral + Isolated digits 2-5 hypodactyly, unilateral + Isolated digits 2-5 oligodactyly, unilateral + Isolated absence/hypoplasia of fingers excluding thumb, unilateral @@ -248227,7 +250739,7 @@ - Sinding-Larsen-Johansson disease is a type of osteochondrosis affecting the attachment of the patellar tendon to the patella and characterised by tenderness and localized swelling of the patella. + A rare osteochrondrosis characterized by chronic traction injury of the immature osteotendinous junction where the patellar tendon inserts into the inferior pole of the patella. It is typically seen in active adolescents. Patients present with point tenderness at the inferior pole of the patella associated with focal swelling and restriction of knee joint range of movement. Radiographic features include thickening of the proximal patellar tendon (potentially followed by dystrophic calcification and/or ossification) and fragmentation of the inferior pole of the patella. ICD-10:M92.4 ICD-11:FB82.1 ICD10:M92.4 @@ -248321,7 +250833,7 @@ - Braak disease + OBSOLETE: Braak disease This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Neurodegenerative disease with dementia OBSOLETE: Argyrophilic grain disease true @@ -248451,7 +250963,7 @@ ICD-10:E51.2 ICD10:E51.2 - Dementia due to thiamine deficiency + NON RARE IN EUROPE: Dementia due to thiamine deficiency This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Wernicke encephalopathy true @@ -248492,7 +251004,7 @@ Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia. ICD-10:Q87.1 - ICD-11:LD24.A  + ICD-11:LD24.A ICD10:Q87.1 ICD11:LD24.A MESH:C562492 @@ -248599,9 +251111,7 @@ - ICD-10:N28.1 - ICD10:N28.1 - Simple kidney cyst + NON RARE IN EUROPE: Simple kidney cyst This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Solitary renal cyst true @@ -248637,6 +251147,7 @@ ICD-11:LB30.3 ICD10:Q63.8 ICD11:LB30.3 + UMLS:C5438872 Renal tubular dysgenesis due to twin-twin transfusion @@ -248651,6 +251162,7 @@ ICD-11:LB30.3 ICD10:Q63.8 ICD11:LB30.3 + UMLS:C5438798 Drug-related renal tubular dysgenesis @@ -248749,7 +251261,7 @@ - A rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects. + A rare multiple congenital anomalies/dysmorphic syndrome characterized by the combination of congenital distal limb reduction and scalp defects, often accompanied by skull ossification defects. ICD-10:Q87.2 ICD-11:LD2F.1Y ICD10:Q87.2 @@ -248765,9 +251277,10 @@ OMIM:616589 UMLS:C0265268 AOS + Aplasia cutis congenita with distal limb anomalies + Aplasia cutis congenita with terminal transverse limb defects Congenital scalp defects with distal limb anomalies Congenital scalp defects with distal limb reduction anomalies - Limb, scalp and skull defects Adams-Oliver syndrome @@ -248807,8 +251320,6 @@ - ICD-10:N04.0 - ICD10:N04.0 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Idiopathic steroid-sensitive nephrotic syndrome Steroid-sensitive nephrotic syndrome without renal biopsy true @@ -248844,7 +251355,7 @@ ICD-10:N04.1 ICD10:N04.1 - Permanent proteinuria with focal and segmental hyalinosis without nephrotic syndrome + NON RARE IN EUROPE: Permanent proteinuria with focal and segmental hyalinosis without nephrotic syndrome This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Chronic proteinuria with focal and segmental hyalinosis true @@ -248874,8 +251385,6 @@ - ICD-10:N02 - ICD10:N02 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Benign familial hematuria true @@ -249040,6 +251549,7 @@ ICD11:5C55.0Y MESH:C538228 MeSH:C538228 + MedDRA:10072609 OMIM:614723 UMLS:C0268120 2,8-dihydroxyadenine urolithiasis @@ -249302,7 +251812,7 @@ - Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy. + A rare neurodegenerative disorder characterized by early-onset cerebellar ataxia, a pyramidal syndrome and peripheral neuropathy. ICD-10:G11.1 ICD-11:8A03.1Y ICD10:G11.1 @@ -249498,6 +252008,7 @@ + UMLS:C1839543 Central nervous system malformation @@ -250202,6 +252713,7 @@ + UMLS:C5681499 Partial autosomal trisomy/tetrasomy Partial autosomal duplication/triplication @@ -250226,8 +252738,8 @@ - ICD-11:LD44 - ICD11:LD44 + ICD-11:LD44.Y + ICD11:LD44.Y Partial autosomal monosomy Partial autosomal deletion @@ -250252,6 +252764,7 @@ ICD-11:LD45.0 ICD11:LD45.0 + UMLS:C4518512 Maternal uniparental disomy @@ -250264,6 +252777,7 @@ ICD-11:LD45.1 ICD11:LD45.1 + UMLS:C4518513 Paternal uniparental disomy @@ -250316,6 +252830,7 @@ ICD-11:LD53 ICD10:Q98.6 ICD11:LD53 + UMLS:C4736190 Chromosome Y structural anomaly @@ -250363,6 +252878,7 @@ Pulmonary valve agenesis is a rare congenital heart malformation characterized by a total or partial absence of the pulmonary valve leaflets associated with stenosis of the pulmonary artery orifice and aneurysmal dilatation of the pulmonary arteries. It usually occurs in association with additional cardiovascular malformations such as teralogy of fallot or ventricular septal defect, or can occur as part of a syndrome (e.g. 22q11.2 deletion syndrome). Clinical features depend on the presence of associated cardiac malformations and include pulmonary insufficiency, bronchial obstruction (secondary to compression by aneurysmally dilated pulmonary arteries), pulmonary stenosis, cyanosis, and cardiac failure. + UMLS:C0265831 Absent pulmonary valve syndrome Congenital absence of the pulmonary valve PVA @@ -250547,6 +253063,7 @@ MESH:D009196 MeSH:D009196 MedDRA:10028576 + UMLS:C0027022 MPD MPN Myeloproliferative disorder @@ -250590,6 +253107,7 @@ MESH:D054219 MeSH:D054219 + MedDRA:10035227 UMLS:C1959632 Plasma cell tumor @@ -250601,6 +253119,7 @@ + UMLS:C1334030 Histiocytic and dendritic cell tumor @@ -250682,6 +253201,7 @@ ICD11:2B30 MESH:D006689 MeSH:D006689 + MedDRA:10020206 UMLS:C0019829 Hodgkin lymphoma @@ -250783,6 +253303,7 @@ MESH:D000083083 MeSH:D000083083 + UMLS:C5392094 Laminopathy @@ -251599,7 +254120,7 @@ - SPD + OBSOLETE: SPD This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare hemorrhagic disorder due to a constitutional thrombocytopenia OBSOLETE: Platelet storage pool disease true @@ -251686,7 +254207,6 @@ MESH:D009135 MeSH:D009135 MedDRA:10028641 - UMLS:C1533847 Skeletal muscle disease @@ -251881,6 +254401,7 @@ + UMLS:C1850349 Posterior fossa malformation @@ -252166,6 +254687,7 @@ + UMLS:C0266572 Congenital malformation of the eyelid @@ -252582,8 +255104,8 @@ - Eyelashes polytrichia - Eyelashes trichomegalia + OBSOLETE: Eyelashes polytrichia + OBSOLETE: Eyelashes trichomegalia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Rare eyebrow/eyelash disorder OBSOLETE: Eyelashes hypertrophy true @@ -253238,6 +255760,7 @@ + UMLS:C0158553 Lens shape anomaly @@ -253529,8 +256052,6 @@ - ICD-10:H50.8 - ICD10:H50.8 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Essential strabismus true @@ -254063,6 +256584,7 @@ + UMLS:C0265914 Congenital pulmonary veins anomaly @@ -254756,9 +257278,6 @@ - ICD-10:G11.2 - ICD10:G11.2 - OMIM:606658 SCA16 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spinocerebellar ataxia type 15/16 Spinocerebellar ataxia type 16 @@ -254924,9 +257443,6 @@ - ICD-10:Q93.3 - ICD10:Q93.3 - OMIM:194190 UMLS:C0796117 Intellectual disability-dysmorphism-intrauterine growth retardation syndrome This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Wolf-Hirschhorn syndrome @@ -254988,6 +257504,7 @@ ICD-11:LD90.0 ICD10:Q93.5 ICD11:LD90.0 + UMLS:C5566334 Angelman syndrome due to maternal monosomy 15q11q13 Angelman syndrome due to maternal 15q11q13 deletion @@ -255311,8 +257828,6 @@ - ICD-10:G40.0 - ICD10:G40.0 UMLS:C0393777 Nocturnal paroxysmal dystonia Paroxysmal hypnagogic dyskinesia @@ -255349,7 +257864,9 @@ A rare ectodermal dysplasia syndrome characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency. ICD-10:D82.8 + ICD-11:LD27.02 ICD10:D82.8 + ICD11:LD27.02 MESH:C536181 MeSH:C536181 OMIM:300291 @@ -255373,6 +257890,7 @@ ICD-11:8A61.2Y ICD10:G40.0 ICD11:8A61.2Y + UMLS:C0393676 Early-onset benign childhood occipital epilepsy Panayiotopoulos syndrome Benign childhood occipital epilepsy, Panayiotopoulos type @@ -255390,6 +257908,7 @@ ICD-11:8A61.2Y ICD10:G40.0 ICD11:8A61.2Y + UMLS:C0393677 Late-onset benign childhood occipital epilepsy Benign childhood occipital epilepsy, Gastaut type @@ -255573,7 +258092,9 @@ MeSH:D000753 MedDRA:10038269 UMLS:C0002893 - Refractory anemia + MDS-LB + Refractory anemia + Myelodysplastic neoplasm with low blasts @@ -255608,9 +258129,9 @@ A rare acute myeloid leukemia (AML) with recurrent genetic anomaly disorder characterized by an inv(16)(p13q22) or t(16;16)(p13;q22) cytogenic abnormality, which generates a CBFB-MYH11 fusion gene, presenting with typical morphologic features of AML as well as abnormal bone marrow eosinophils (seen in all stages of maturation with no significant signs of maturation arrest). Myeloid sarcoma and involvement of the central nervous system is relatively common. Cytology reveals myeloblasts, a significant monocytic component and variable numbers of immature eosinophils with atypical purple-violet granules in addition to eosinophilic granules. Presence of the fusion gene is sufficent for diagnosis irrespective of blast count. - ICD-10:C92.5 + ICD-10:C92.7 ICD-11:2A60.0 - ICD10:C92.5 + ICD10:C92.7 ICD11:2A60.0 UMLS:C5395080 AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) @@ -255772,8 +258293,6 @@ - ICD-10:C95.0 - ICD10:C95.0 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Mixed phenotype acute leukemia Bilineal acute leukemia true @@ -255785,8 +258304,6 @@ - ICD-10:C95.0 - ICD10:C95.0 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Mixed phenotype acute leukemia Acute biphenotypic leukemia true @@ -256221,9 +258738,6 @@ - ICD-10:Q34.8 - ICD10:Q34.8 - OMIM:244400 UMLS:C0022521 Dextrocardia-bronchiectasis-sinusitis syndrome Immotile cilia syndrome, Kartagener type @@ -256272,8 +258786,6 @@ - ICD-10:D58.1 - ICD10:D58.1 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hereditary elliptocytosis Common hereditary elliptocytosis true @@ -256285,8 +258797,6 @@ - ICD-10:D58.1 - ICD10:D58.1 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hereditary elliptocytosis Homozygous hereditary elliptocytosis true @@ -256309,8 +258819,6 @@ - ICD-10:D58.1 - ICD10:D58.1 OMIM:266140 UMLS:C0520739 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hereditary elliptocytosis @@ -256630,6 +259138,7 @@ ICD10:D69.8 ICD11:3B62.Y OMIM:614201 + UMLS:C3280120 Bleeding diathesis due to glycoprotein VI deficiency @@ -256819,9 +259328,6 @@ - ICD-10:G71.2 - ICD10:G71.2 - OMIM:608840 UMLS:C1837229 MDC1D This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Congenital muscular dystrophy due to dystroglycanopathy @@ -256959,7 +259465,7 @@ - A rare disease characterized by the association of aglossia (absence of tongue), adactylia (absence of fingers or toes) and limb, craniofacial and other, less frequent malformations. + A rare multiple congenital anomalies/dysmorphic syndrome characterized by hypoglossia, micrognathia and variable limb abnormalities. Limb defects can involve any limb (usually all four) and the severity may vary from the absence of distal phalanges to total absence of digits or limbs. Synbrachydactyly may also be present. Patients have problems with speech, swallowing and mastication, and they have additional craniofacial anomalies (including telecanthus, lower eyelid defects, broad nose, microstomia, variable clefting or aberrant attachments of tongue, mandibular hypodontia, cleft palate, cranial nerve palsies, and facial asymmetry). Gingival abnormalities are frequently observed. Intelligence and stature are generally normal. ICD-10:Q87.2 ICD-11:LD25.0Y ICD10:Q87.2 @@ -257068,7 +259574,7 @@ - A form of neutral lipid storage disease characterized by the accumulation of lipid vacuoles in leukocytes (so-called Jordan's anomaly seen in peripheral blood smears) and a variety of other cell types. The clinical picture consists of congenital ichthyosis of the congenital ichthyosiform erythroderma type together with variable multisystem involvement. Manifestations include hepatosplenomegaly, myopathy, intestinal disease, growth retardation, cataracts, sensorineural hearing loss, and intellectual disability, among others. + A form of autosomal recessive neutral lipid storage disease characterized by the accumulation of lipid vacuoles in granulocytes (so-called Jordan's anomaly) and a variety of other cell types. Clinically, the skin symptoms with ichthyosiform erythroderma and scaling are initially in the foreground. Later, steatosis hepatis, hepatomegaly and muscle weakness develop. Other manifestations include growth delay, cataracts, sensorineural hearing loss, intellectual disability and bowel disease. ICD-10:E75.5 ICD-11:5C52.2 ICD10:E75.5 @@ -257077,7 +259583,10 @@ MeSH:C536560 OMIM:275630 UMLS:C0268238 - Dorfman-Chanarin disease + CDS + Chanarin-Dorfman syndrome + DCS + Dorfman-Chanarin syndrome NLSDI Neutral lipid storage disease with ichthyosis @@ -257096,7 +259605,7 @@ - A form of neutral lipid storage disease characterized by adult onset of slowly progressive, typically proximal, muscular weakness of the upper and lower limbs, associated with elevated serum creatine kinase. Many patients develop cardiomyopathy later in the disease course. Additional, variable manifestations include hepatomegaly, diabetes mellitus, and hypertriglyceridemia, among others. Diagnostic hallmarks are triacylglycerol-containing lipid vacuoles in leukocytes in peripheral blood smears (so-called Jordans' anomaly), as well as massive accumulation of lipid droplets in muscle tissue. + A form of neutral lipid storage disease characterized by adult onset of slowly progressive muscular weakness of the limbs and axial muscles, and accumulation of lipid droplets in the muscles and leukocytes. ICD-10:E75.5 ICD-11:5C52.2 ICD10:E75.5 @@ -257105,9 +259614,11 @@ MeSH:C565192 OMIM:610717 UMLS:C1853136 + Adipose triglyceride lipase deficiency NLSDM + Neutral lipid storage disease type M Neutral lipid storage disease with myopathy without ichthyosis - Neutral lipid storage myopathy + Neutral lipid storage disease with myopathy @@ -257307,6 +259818,7 @@ OMIM:616325 OMIM:616326 OMIM:616720 + UMLS:C0751883 Postsynaptic congenital myasthenic syndromes @@ -257569,8 +260081,8 @@ - MSA-urinary dysfunction syndrome - Multiple system atrophy-urinary dysfunction syndrome + OBSOLETE: MSA-urinary dysfunction syndrome + OBSOLETE: Multiple system atrophy-urinary dysfunction syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Multiple system atrophy OBSOLETE: Shy-Drager syndrome true @@ -257921,7 +260433,6 @@ ICD11:LA13.2 MESH:C535968 MeSH:C535968 - OMIM:120300 UMLS:C1852767 Coloboma of macula @@ -258042,7 +260553,7 @@ ICD-11:LA14.01 ICD10:Q11.2 ICD11:LA14.01 - OMIM:123570 + UMLS:C5437887 Complete cryptophthalmia @@ -258129,7 +260640,7 @@ ICD11:9A70.Y MESH:C567588 MeSH:C567588 - OMIM:300778 + OMIM:620763 UMLS:C2749050 Band-shaped and whorled microcystic dystrophy of the corneal epithelium LECD @@ -258442,8 +260953,6 @@ - ICD-10:H18.5 - ICD10:H18.5 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Schnyder corneal dystrophy Central discoid corneal dystrophy true @@ -258669,16 +261178,7 @@ - - - - - - - - - - A rare subtype of posterior corneal dystrophy characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision. + ICD-10:H18.5 ICD-11:LA11.5 ICD10:H18.5 @@ -258690,7 +261190,9 @@ CHED1 CHEDI Congenital hereditary endothelial dystrophy type 1 + This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Posterior polymorphous corneal dystrophy Congenital hereditary endothelial dystrophy type I + true @@ -258763,7 +261265,7 @@ - A primary early-onset glaucoma that is characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment. + A rare primary early-onset glaucoma characterized by early onset, severe elevation of intra ocular pressure of rapid progression, leading to optic nerve excavation and, when untreated, substantial visual impairment. ICD-10:H40.1 ICD-11:9C61.41 ICD10:H40.1 @@ -259878,8 +262380,6 @@ - ICD-10:Q20.1 - ICD10:Q20.1 UMLS:C1956411 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Double outlet right ventricle with subaortic or doubly committed ventricular septal defect Double outlet right ventricle with subaortic ventricular septal defect @@ -259926,8 +262426,6 @@ - ICD-10:Q20.1 - ICD10:Q20.1 UMLS:C0344644 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Double outlet right ventricle with subaortic or doubly committed ventricular septal defect Double outlet right ventricle with doubly committed ventricular septal defect @@ -260217,7 +262715,7 @@ - CAVC-left heart obstruction syndrome + OBSOLETE: CAVC-left heart obstruction syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Complete atrioventricular septal defect OBSOLETE: Complete atrioventricular canal-left heart obstruction syndrome true @@ -260272,6 +262770,7 @@ ICD10:Q21.2 ICD11:LA87.45 OMIM:615779 + UMLS:C3640086 CAVC-tetralogy of Fallot Complete AVSD-tetralogy of Fallot Complete atrioventricular canal defect-tetralogy of Fallot @@ -260383,6 +262882,7 @@ ICD-11:LA8B.2Y ICD10:Q25.4 ICD11:LA8B.2Y + MedDRA:10081282 UMLS:C0265885 Kommerell diverticulum @@ -260447,6 +262947,7 @@ A rare aortic arch defect characterized by variable degrees of dysphagia due to compression of the esophagus from an aberrant right subclavian artery (arteria lusoria), which arises as the fourth branch, distal to the left subclavian artery, from the aortic arch. In most cases, the aberrant vessel then passes posterior to the esophagus, less frequently between the trachea and esophagus, or anterior to the trachea. Children may also present with stridor and recurrent chest infections. ICD-10:Q25.4 ICD10:Q25.4 + MedDRA:10079869 UMLS:C0267073 Dysphagia lusoria @@ -260481,7 +262982,9 @@ Peripheral pulmonary stenosis is a rare congenital anomaly of the great arteries that may occur at single or multiple sites, in isolation or in association with other congenital heart defects (valvular pulmonary stenosis, atrial, or ventricular septal defects or tetralogy of Fallot) and genetic syndromes (Williams, Alagile syndrome). Clinical presentation is variable and includes heart murmurs, dyspnea, syncope, chest pain and pulmonary hypertension-associated symptoms. ICD-10:Q25.6 + ICD-11:LA8B.1 ICD10:Q25.6 + ICD11:LA8B.1 UMLS:C3531782 Branch pulmonary artery stenosis Pulmonary branch stenosis @@ -260628,6 +263131,7 @@ + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare congenital anomaly of ventricular septum OBSOLETE: Multiple ventricular septal defects true @@ -260638,6 +263142,7 @@ + This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Rare congenital anomaly of ventricular septum OBSOLETE: Single ventricular septal defect true @@ -260913,8 +263418,6 @@ - ICD-10:Q21.1 - ICD10:Q21.1 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Patent foramen ovale true @@ -260928,7 +263431,7 @@ - A rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains through the left coronary sinus to the left atrium. Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatrium) and risk of paradoxical embolization may be associated. + A rare, congenital vascular malformation of the major vessels characterized by a persitent left superior vena cava which drains through the left coronary sinus to the left atrium. Patients are usually asymptomatic and discovered incidentally, however hypoxia, cyanosis, murmurs, palpitations, cardiac structural anomalies (e.g. atrial septal defect, bicuspid aortic valve, cor triatriatum) and risk of paradoxical embolism may be associated. ICD-10:Q26.1 ICD10:Q26.1 UMLS:C5680293 @@ -261176,6 +263679,8 @@ ICD-11:LA86.20 ICD10:Q26.2 ICD11:LA86.20 + MESH:D012587 + MeSH:D012587 OMIM:106700 UMLS:C5681626 Congenital total pulmonary venous return anomaly @@ -261189,7 +263694,9 @@ + ICD-10:Q26.8 ICD-11:LA86.Y + ICD10:Q26.8 ICD11:LA86.Y CPVA Congenital PVA @@ -261342,8 +263849,6 @@ - ICD-10:Q87.8 - ICD10:Q87.8 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Cohen syndrome Microcephaly-cutis verticis gyrata-lymphedema syndrome true @@ -261396,8 +263901,6 @@ - ICD-10:G31.8 - ICD10:G31.8 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Hippocampal tauopathy in cerebral aging true @@ -261409,8 +263912,6 @@ - ICD-10:E78.5 - ICD10:E78.5 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Familial combined hyperlipoproteinemia true @@ -261846,8 +264347,6 @@ - ICD-10:Q77.3 - ICD10:Q77.3 UMLS:C1300227 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Greenberg dysplasia Dappled diaphyseal dysplasia @@ -261875,6 +264374,7 @@ ICD11:LD24.2Y OMIM:614875 UMLS:C3553958 + MC-HGA Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria @@ -261883,17 +264383,13 @@ - - - - Cheirospondyloenchondromatosis is an extremely rare type of enchondromatosis of very early onset (from neonatal period to infancy) characterized by symmetrical multiple enchondromas with metacarpal and phalangeal involvement resulting in short hands and feet, platyspondyly, mild to moderate short stature and intellectual disability. - ICD-10:Q78.8 - ICD-11:LD24.2Y - ICD10:Q78.8 - ICD11:LD24.2Y + UMLS:C4510810 + Enchondromatosis Spranger, type VI Generalized enchondromatosis with platyspondyly + This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Cheirospondyloenchondromatosis + true @@ -261944,9 +264440,9 @@ - FCPD - Fibrocalculous pancreatic diabetes - Tropical pancreatic diabetes + OBSOLETE: FCPD + OBSOLETE: Fibrocalculous pancreatic diabetes + OBSOLETE: Tropical pancreatic diabetes This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Tropical pancreatitis OBSOLETE: Fibrocalculous pancreatopathy true @@ -262018,22 +264514,6 @@ - ICD-10:K43.0 - ICD-10:K43.1 - ICD-10:K43.2 - ICD-10:K43.3 - ICD-10:K43.4 - ICD-10:K43.5 - ICD-10:K43.6 - ICD-10:K43.7 - ICD10:K43.0 - ICD10:K43.1 - ICD10:K43.2 - ICD10:K43.3 - ICD10:K43.4 - ICD10:K43.5 - ICD10:K43.6 - ICD10:K43.7 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Ventral hernia true @@ -262086,8 +264566,6 @@ - ICD-10:Q82.4 - ICD10:Q82.4 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome Alveolar synechia-ankyloblepharon-ectodermal dysplasia syndrome true @@ -262121,6 +264599,13 @@ + + + + + + + A rare syndromic obesity characterized by early-onset severe obesity, hyperphagia and global developmental delay with specific impairment of short term memory and language delay. Patients may represent moderate intellectual disability, stereotyped behaviors, autistic features, impaired nociception, hypotonia and seizures. Facial asymmetry and streak ovaries were also reported in a few cases. ICD-10:E66.8 ICD10:E66.8 UMLS:C3151303 @@ -262161,8 +264646,6 @@ - ICD-10:Q87.4 - ICD10:Q87.4 MESH:C536030 MeSH:C536030 OMIM:604308 @@ -262635,13 +265118,13 @@ - 18-hydroxylase deficiency - 18-oxidase deficiency - Aldosterone synthase deficiency - CMO I - CMO II - Corticosterone methyloxidase deficiency type I - FHHA1 + OBSOLETE: 18-hydroxylase deficiency + OBSOLETE: 18-oxidase deficiency + OBSOLETE: Aldosterone synthase deficiency + OBSOLETE: CMO I + OBSOLETE: CMO II + OBSOLETE: Corticosterone methyloxidase deficiency type I + OBSOLETE: FHHA1 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial hypoaldosteronism OBSOLETE: Familial hyperreninemic hypoaldosteronism type 1 true @@ -262653,9 +265136,9 @@ - Aldosterone synthase deficiency unrelated to CYP11B2 - Aldosterone synthase deficiency unrelated to the aldosterone synthase gene - FHHA2 + OBSOLETE: Aldosterone synthase deficiency unrelated to CYP11B2 + OBSOLETE: Aldosterone synthase deficiency unrelated to the aldosterone synthase gene + OBSOLETE: FHHA2 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial hypoaldosteronism OBSOLETE: Familial hyperreninemic hypoaldosteronism type 2 true @@ -262712,7 +265195,9 @@ Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (incl. microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed. ICD-10:Q92.1 + ICD-11:LD40.Y ICD10:Q92.1 + ICD11:LD40.Y MESH:C535454 MeSH:C535454 UMLS:C2930908 @@ -262727,11 +265212,8 @@ - ICD-10:E27.4 - ICD10:E27.4 MESH:C536009 MeSH:C536009 - OMIM:231550 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Triple A syndrome Achalasia-alacrimia syndrome true @@ -262743,7 +265225,7 @@ - CCAL1 + OBSOLETE: CCAL1 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial calcium pyrophosphate deposition OBSOLETE: Familial articular chondrocalcinosis type 1 true @@ -262755,7 +265237,7 @@ - CCAL2 + OBSOLETE: CCAL2 This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial calcium pyrophosphate deposition OBSOLETE: Familial articular chondrocalcinosis type 2 true @@ -263057,6 +265539,7 @@ ICD11:LA05.1 MESH:D065705 MeSH:D065705 + MedDRA:10078100 UMLS:C0431391 Unilateral megalencephaly Hemimegalencephaly @@ -263145,7 +265628,6 @@ PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated. ICD-10:G93.4 ICD10:G93.4 - OMIM:260565 OMIM:617507 UMLS:C1850056 PEHO-like syndrome @@ -263171,6 +265653,12 @@ + + + + + + ICD-10:Q04.6 ICD-11:LA05.60 ICD10:Q04.6 @@ -263179,6 +265667,7 @@ MeSH:C536850 OMIM:175780 OMIM:614483 + OMIM:618360 UMLS:C1867983 Familial porencephaly @@ -263245,8 +265734,6 @@ - ICD-10:D48.9 - ICD10:D48.9 This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Lynch syndrome Non-polyposis Turcot syndrome true @@ -263397,7 +265884,7 @@ - + Dengue fever (DF), caused by dengue virus, is an arboviral disease characterized by an initial non-specific febrile illness that can sometimes progress to more severe forms manifesting capillary leakage and hemorrhage (dengue hemorrhagic fever, or DHF) and shock (dengue shock syndrome, or DSS). @@ -263431,7 +265918,6 @@ - Yellow fever (YF), caused by YF virus, is a zoonotic disease characterized by fever and constitutional symptoms, with the potential to progress to severe and fatal viral hemorrhagic fever with shock and multi-organ system failure. @@ -263459,7 +265945,7 @@ - CVID due to an intrinsic T cell defect + OBSOLETE: CVID due to an intrinsic T cell defect This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Common variable immunodeficiency OBSOLETE: Common variable immunodeficiency due to an intrinsic T cell defect true @@ -264039,7 +266525,7 @@ - Acute and disseminated Langerhans cell histiocytosis + OBSOLETE: Acute and disseminated Langerhans cell histiocytosis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Langerhans cell histiocytosis OBSOLETE: Letterer-Siwe disease true @@ -264051,7 +266537,7 @@ - Chronic and localized Langerhans cell histiocytosis + OBSOLETE: Chronic and localized Langerhans cell histiocytosis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Langerhans cell histiocytosis OBSOLETE: Eosinophilic granuloma true @@ -264063,7 +266549,7 @@ - Congenital Langerhans cell histiocytosis + OBSOLETE: Congenital Langerhans cell histiocytosis This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Langerhans cell histiocytosis OBSOLETE: Hashimoto-Pritzker syndrome true @@ -264075,8 +266561,8 @@ - Chronic multifocal Langerhans cell histiocytosis - Multifocal eosinophilic granuloma + OBSOLETE: Chronic multifocal Langerhans cell histiocytosis + OBSOLETE: Multifocal eosinophilic granuloma This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Langerhans cell histiocytosis OBSOLETE: Hand-Schüller-Christian disease true @@ -264088,7 +266574,7 @@ - Pulmonary histiocytosis X + OBSOLETE: Pulmonary histiocytosis X This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Langerhans cell histiocytosis OBSOLETE: Adult pulmonary Langerhans cell histiocytosis true @@ -264100,7 +266586,7 @@ - EDS VIIA + OBSOLETE: EDS VIIA This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Arthrochalasia Ehlers-Danlos syndrome OBSOLETE: Ehlers-Danlos syndrome type 7A true @@ -264112,7 +266598,7 @@ - EDS VIIB + OBSOLETE: EDS VIIB This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Arthrochalasia Ehlers-Danlos syndrome OBSOLETE: Ehlers-Danlos syndrome type 7B true @@ -264135,8 +266621,8 @@ - Familial parathyroid hyperplasia - Hereditary parathyroid hyperplasia + OBSOLETE: Familial parathyroid hyperplasia + OBSOLETE: Hereditary parathyroid hyperplasia This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Familial isolated hyperparathyroidism OBSOLETE: Primary parathyroid hyperplasia true @@ -264262,6 +266748,8 @@ ICD-11:KB60.2Y ICD10:P70.2 ICD11:KB60.2Y + MESH:C563425 + MeSH:C563425 OMIM:606176 OMIM:618856 OMIM:618857 @@ -264341,8 +266829,10 @@ ICD-11:2A60.41 ICD10:C94.2 ICD11:2A60.41 - DS-AMKL - Acute megakaryoblastic leukemia in Down syndrome + Acute megakaryoblastic leukemia in children with trisomy 21 + DS-AMKL in children with Down syndrome + DS-AMKL in children with trisomy 21 + Acute megakaryoblastic leukemia in children with Down syndrome @@ -264351,8 +266841,6 @@ - ICD-10:D35.0 - ICD10:D35.0 This disease is not rare in Europe. It does not belong to the Orphanet nomenclature of rare diseases. NON RARE IN EUROPE: Adrenocortical adenoma true @@ -264367,7 +266855,7 @@ - Cushing syndrome due to ectopic (adrenocorticotropic hormone) ACTH secretion (EAS) is a form of ACTH-dependent Cushing syndrome (see this term) caused by excess secretion of ACTH by a benign or, more often, malignant non-pituitary tumor. + A form of adrenocorticotropic hormone (ACTH)-dependent Cushing syndrome, an endogenous Cushing syndrome (CS), characterized by the secretion of ACTH by non-pituitary neuroendocrine tumors (NETs) of various locations and various degrees of histological differentiation and aggressiveness. ICD-10:E24.3 ICD-11:5A70.1 ICD10:E24.3 @@ -264390,7 +266878,7 @@ - A form of endogenous Cushing syndrome (CS) caused by abnormal production of ACTH due, in 80% of cases, to adrenocorticotropic hormone (ACTH) oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH). + A group of endogenous Cushing syndrome (CS) caused by abnormal production of ACTH due, in 80% of cases, to adrenocorticotropic hormone (ACTH) oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS) by an extrapituitary tumor or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH). ICD-10:E24.0 ICD10:E24.0 UMLS:C0342442 @@ -264406,9 +266894,9 @@ - Adrenal Cushing syndrome - Adrenocorticotropic hormone-independent Cushing syndrome - Corticotropin-independent Cushing syndrome + OBSOLETE: Adrenal Cushing syndrome + OBSOLETE: Adrenocorticotropic hormone-independent Cushing syndrome + OBSOLETE: Corticotropin-independent Cushing syndrome This entity has been obsoleted from the Orphanet nomenclature of rare diseases.This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.Instead, consider using Adrenal Cushing syndrome OBSOLETE: ACTH-independent Cushing syndrome true @@ -264472,8 +266960,6 @@ - ICD-10:E71.3 - ICD10:E71.3 MESH:C535690 MeSH:C535690 UMLS:C0220711 @@ -264959,8 +267445,9 @@ - - + + + Heiner syndrome, also called cow's milk hypersensitivity, is a food induced pulmonary hypersensiting syndrome that affects primarily infants and that is characterized by pulmonary hemosiderosis (see this term), digestive bleeding, anemia and poor growing, improving with elimination of cow's milk from the diet. ICD-10:E83.1+ ICD-10:J99.8* @@ -264968,6 +267455,7 @@ ICD10:E83.1+ ICD10:J99.8* ICD11:CB05.5 + UMLS:C3873343 Cow's milk hypersensitivity Heiner syndrome @@ -265618,6 +268106,7 @@ ICD10:K83.1 ICD11:5C58.04 OMIM:243300 + UMLS:C4551899 BRIC type 1 BRIC1 Benign recurrent intrahepatic cholestasis type 1 @@ -265763,7 +268252,7 @@ - IgA1 deficiency + OBSOLETE: IgA1 deficiency This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Immunodeficiency predominantly affecting antibody production OBSOLETE: Immunoglobulin A1 deficiency true @@ -265775,7 +268264,7 @@ - IgA2 deficiency + OBSOLETE: IgA2 deficiency This entity has been obsoleted from the Orphanet nomenclature of rare diseases.Instead, consider using Immunodeficiency predominantly affecting antibody production OBSOLETE: Immunoglobulin A2 deficiency true @@ -265945,7 +268434,7 @@ - A rare, genetic, neonatal diabetes mellitus syndrome, that is a variant of DEND syndrome and is characterized clinically by neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and absence of epilepsy. + A rare genetic neonatal diabetes mellitus syndrome characterized by neonatal insulin-dependent diabetes mellitus, mild motor, speech or cognitive delay, and absence of epilepsy. Is it a less severe form of DEND syndrome. ICD-10:P70.2 ICD10:P70.2 UMLS:C5680423 @@ -265964,6 +268453,7 @@ ICD-11:1C30.1 ICD10:A75.1 ICD11:1C30.1 + MedDRA:10038017 UMLS:C0006181 Brill disease Recrudescent typhus @@ -265978,9 +268468,9 @@ ICD-10:A75.0 - ICD-11:1C30.1 + ICD-11:1C30.Y ICD10:A75.0 - ICD11:1C30.1 + ICD11:1C30.Y UMLS:C5681812 Relapsing epidemic typhus