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 MartÃnez-FrÃas syndrome oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching
-Orphanet:137862 MartÃnez-FrÃas syndrome oboInOwl:hasDbXref ICD10:Q45.8 semapv:UnspecifiedMatching
Orphanet:137862 MartÃnez-FrÃas syndrome oboInOwl:hasDbXref OMIM:601346 semapv:UnspecifiedMatching
Orphanet:137862 MartÃnez-FrÃas 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
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MONDO:0700112 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0100339 NORD:818 MONDO:NORD Friedreich's Ataxia NORD:818 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:818 MONDO:NORD
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@@ -151,24 +145,24 @@ MONDO:0100280 NORD:1834 MONDO:NORD Waldenström Macroglobulinemia NORD:1834 http
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MONDO:0054588 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0054551 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0049223 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0023149 NORD:1922 MONDO:NORD Clostridial Myonecrosis NORD:1922 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1922 MONDO:NORD
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MONDO:0023067 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0021758 NORD:743 MONDO:NORD Agranulocytosis, Acquired NORD:743 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:743 MONDO:NORD
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MONDO:0020115 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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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
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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
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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
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MONDO:0019882 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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-MONDO:0019881 NORD:959 MONDO:NORD Chromosome 6, Partial Trisomy 6q NORD:959 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:959 MONDO:NORD
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MONDO:0019877 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019857 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019854 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019848 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019846 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0019839 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019830 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019825 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019823 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019819 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019813 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0019814 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0019815 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019809 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0019810 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019807 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0019808 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0019805 NORD:2021 MONDO:NORD Twin Anemia Polycythemia Sequence NORD:2021 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2021 MONDO:NORD
@@ -1747,90 +1731,90 @@ MONDO:0019802 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0019799 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0019801 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0019797 NORD:722 MONDO:NORD NORD:722 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:722 MONDO:NORD
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MONDO:0019793 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019790 NORD:1504 MONDO:NORD NORD:1504 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1504 MONDO:NORD
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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
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MONDO:0019377 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0019378 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0019375 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -2029,185 +2012,185 @@ MONDO:0019370 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0019368 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019367 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019364 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019360 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019359 NORD:1674 MONDO:NORD NORD:1674 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1674 MONDO:NORD
MONDO:0019358 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019355 NORD:737 MONDO:NORD Adult-Onset Still's Disease NORD:737 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:737 MONDO:NORD
MONDO:0019353 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0019354 NORD:1739 MONDO:NORD NORD:1739 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1739 MONDO:NORD
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MONDO:0019346 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0019347 NORD:1562 MONDO:NORD NORD:1562 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1562 MONDO:NORD
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MONDO:0019345 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0019342 NORD:1701 MONDO:NORD NORD:1701 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1701 MONDO:NORD
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MONDO:0019339 NORD:1871 MONDO:NORD XYY Syndrome NORD:1871 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1871 MONDO:NORD
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MONDO:0019336 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019333 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019326 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019312 NORD:1918 MONDO:NORD Hepatopulmonary Syndrome NORD:1918 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1918 MONDO:NORD
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MONDO:0019260 NORD:1341 MONDO:NORD NORD:1341 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1341 MONDO:NORD
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MONDO:0019258 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019257 NORD:1315 MONDO:NORD Juvenile Hemochromatosis NORD:1315 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1315 MONDO:NORD
MONDO:0019255 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0019249 NORD:1461 MONDO:NORD Mucopolysaccharidoses NORD:1461 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1461 MONDO:NORD
MONDO:0019234 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0019233 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019212 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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MONDO:0019201 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019199 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019196 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019192 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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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
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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
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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
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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
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MONDO:0019140 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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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
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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
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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
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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
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MONDO:0019098 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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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
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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 http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1729 MONDO:NORD
-MONDO:0019080 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0019078 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019076 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0019077 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0019074 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0019075 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0019073 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0019071 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019068 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019067 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0019064 NORD:1238 MONDO:NORD NORD:1238 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1238 MONDO:NORD
MONDO:0019046 NORD:1367 MONDO:NORD NORD:1367 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1367 MONDO:NORD
-MONDO:0019037 NORD:1619 MONDO:NORD NORD:1619 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1619 MONDO:NORD
-MONDO:0019035 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0019036 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
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MONDO:0019034 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0019032 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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-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
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MONDO:0019011 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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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
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MONDO:0018994 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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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
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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
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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 NORD:756 MONDO:NORD NORD:756 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:756 MONDO:NORD
-MONDO:0018967 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0018964 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018963 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0018960 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0018961 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0018956 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0018957 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0018955 NORD:1651 MONDO:NORD NORD:1651 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1651 MONDO:NORD
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MONDO:0018954 NORD:91173 MONDO:NORD NORD:91173 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:91173 MONDO:NORD
MONDO:0018952 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0018953 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
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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
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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
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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
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MONDO:0018890 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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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
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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
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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
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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
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MONDO:0018851 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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-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
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MONDO:0018849 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018847 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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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
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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
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MONDO:0018835 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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MONDO:0018823 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0018824 NORD:1638 MONDO:NORD NORD:1638 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1638 MONDO:NORD
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MONDO:0018820 NORD:1944 MONDO:NORD TANGO2 Deficiency Disorder NORD:1944 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1944 MONDO:NORD
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MONDO:0018821 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0018816 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0018818 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018813 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018811 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018801 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018794 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018784 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018778 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0018777 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018774 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0018772 NORD:1312 MONDO:NORD NORD:1312 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1312 MONDO:NORD
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MONDO:0018770 NORD:1074 MONDO:NORD Asphyxiating Thoracic Dystrophy NORD:1074 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1074 MONDO:NORD
MONDO:0018768 NORD:1122 MONDO:NORD NORD:1122 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1122 MONDO:NORD
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MONDO:0018766 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0018767 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018762 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018760 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018757 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018749 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018747 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018744 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -2423,223 +2405,222 @@ MONDO:0018742 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0018740 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018171 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0018168 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018167 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0018165 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018163 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018161 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0018159 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018156 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0018153 NORD:1102 MONDO:NORD Erdheim Chester Disease NORD:1102 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1102 MONDO:NORD
MONDO:0018152 NORD:933 MONDO:NORD Choroiditis, Serpiginous NORD:933 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:933 MONDO:NORD
-MONDO:0018150 NORD:1177 MONDO:NORD NORD:1177 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1177 MONDO:NORD
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MONDO:0018149 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018148 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018147 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0018145 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
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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
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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
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MONDO:0018131 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0018133 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018129 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018127 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018125 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018123 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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-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
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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
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MONDO:0018103 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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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
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MONDO:0018082 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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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MONDO:0018076 NORD:1801 MONDO:NORD NORD:1801 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1801 MONDO:NORD
MONDO:0018077 NORD:1803 MONDO:NORD NORD:1803 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1803 MONDO:NORD
MONDO:0018072 NORD:1800 MONDO:NORD Truncus Arteriosus NORD:1800 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1800 MONDO:NORD
MONDO:0018070 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0018071 NORD:1797 MONDO:NORD NORD:1797 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1797 MONDO:NORD
-MONDO:0018069 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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
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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
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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
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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
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MONDO:0018055 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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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
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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
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MONDO:0018027 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0018024 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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MONDO:0017991 NORD:806 MONDO:NORD Arteritis, Takayasu NORD:806 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:806 MONDO:NORD
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MONDO:0017948 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017943 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017932 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017931 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017923 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017921 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017910 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017851 NORD:1285 MONDO:NORD Ichthyosis, Erythrokeratodermia Variabilis NORD:1285 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1285 MONDO:NORD
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MONDO:0017844 NORD:1707 MONDO:NORD Sheehan Syndrome NORD:1707 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1707 MONDO:NORD
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MONDO:0017610 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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MONDO:0017603 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017600 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017598 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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MONDO:0017582 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017579 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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MONDO:0017571 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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MONDO:0017552 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017520 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017515 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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MONDO:0017472 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017469 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017466 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017453 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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MONDO:0017417 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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MONDO:0017410 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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MONDO:0017398 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017395 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017394 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017392 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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MONDO:0017389 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017386 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017384 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017382 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017380 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017377 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017375 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017373 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017366 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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MONDO:0017354 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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MONDO:0017329 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0017321 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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MONDO:0017298 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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MONDO:0017282 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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 NORD:790 MONDO:NORD
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MONDO:0016755 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016751 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016748 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -3559,27 +3535,27 @@ MONDO:0016747 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0016745 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016742 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016740 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016735 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016733 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016734 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016730 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016731 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016724 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016723 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016722 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016718 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016713 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016715 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016710 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016709 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016706 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016705 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016703 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016702 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -3588,66 +3564,66 @@ MONDO:0016698 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0016696 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016693 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016695 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016690 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016688 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016686 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016684 NORD:769 MONDO:NORD NORD:769 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:769 MONDO:NORD
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MONDO:0016682 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016680 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016675 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016673 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016670 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016668 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016664 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016661 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016662 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016659 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016657 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016655 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016652 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016653 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016650 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016651 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016648 NORD:1468 MONDO:NORD Dominant Multiple Epiphyseal Dysplasia NORD:1468 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1468 MONDO:NORD
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MONDO:0016644 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016646 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016641 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016642 NORD:1434 MONDO:NORD NORD:1434 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1434 MONDO:NORD
MONDO:0016638 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016630 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016621 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016620 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016614 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016611 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016612 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016609 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016610 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016608 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016607 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016605 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016601 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016596 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016595 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016594 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016591 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -3660,11 +3636,11 @@ MONDO:0016576 NORD:1731 MONDO:NORD Split Hand/Split Foot Malformation NORD:1731
MONDO:0016575 NORD:1605 MONDO:NORD NORD:1605 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1605 MONDO:NORD
MONDO:0016572 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016573 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016570 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016571 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0016567 NORD:1376 MONDO:NORD Locked In Syndrome NORD:1376 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1376 MONDO:NORD
-MONDO:0016568 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016566 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0016567 NORD:1376 MONDO:NORD Locked In Syndrome NORD:1376 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1376 MONDO:NORD
MONDO:0016563 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016564 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016561 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -3672,224 +3648,223 @@ MONDO:0016562 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0016559 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016558 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016557 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016020 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016022 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016019 NORD:1649 MONDO:NORD Rasmussen Encephalitis NORD:1649 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1649 MONDO:NORD
MONDO:0016018 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0016016 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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MONDO:0016008 NORD:1139 MONDO:NORD NORD:1139 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1139 MONDO:NORD
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MONDO:0016006 NORD:982 MONDO:NORD NORD:982 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:982 MONDO:NORD
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MONDO:0016005 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016003 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0016002 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015999 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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MONDO:0015988 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015986 NORD:1656 MONDO:NORD Renal Agenesis, Bilateral NORD:1656 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1656 MONDO:NORD
MONDO:0015987 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015974 NORD:1706 MONDO:NORD NORD:1706 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1706 MONDO:NORD
MONDO:0015944 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015943 NORD:973 MONDO:NORD Churg Strauss Syndrome NORD:973 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:973 MONDO:NORD
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MONDO:0015935 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015924 NORD:1634 MONDO:NORD NORD:1634 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1634 MONDO:NORD
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MONDO:0015912 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015908 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015903 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015892 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015883 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015873 NORD:1544 MONDO:NORD Paget's Disease of the Breast NORD:1544 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1544 MONDO:NORD
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MONDO:0015871 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015863 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015855 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015854 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015842 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015843 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015840 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015841 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015836 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015834 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015832 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015826 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015827 NORD:1969 MONDO:NORD Primary Distal Renal Tubular Acidosis NORD:1969 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1969 MONDO:NORD
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MONDO:0015821 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015813 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015808 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015776 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015774 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015773 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015771 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015768 NORD:957 MONDO:NORD Chromosome 5, Trisomy 5p NORD:957 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:957 MONDO:NORD
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MONDO:0015766 NORD:928 MONDO:NORD NORD:928 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:928 MONDO:NORD
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MONDO:0015588 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015584 NORD:1889 MONDO:NORD Febrile Infection-Related Epilepsy Syndrome (FIRES) NORD:1889 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1889 MONDO:NORD
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MONDO:0015583 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015574 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015579 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015571 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015564 NORD:898 MONDO:NORD NORD:898 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:898 MONDO:NORD
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MONDO:0015558 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015553 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015554 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015552 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015546 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015544 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015541 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015540 NORD:1938 MONDO:NORD Hemophagocytic Lymphohistiocytosis NORD:1938 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1938 MONDO:NORD
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MONDO:0015539 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015534 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015529 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015528 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015525 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015521 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015523 NORD:124536 MONDO:NORD NORD:124536 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:124536 MONDO:NORD
MONDO:0015519 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015520 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015518 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015516 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015500 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015493 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015487 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015484 NORD:1027 MONDO:NORD NORD:1027 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1027 MONDO:NORD
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MONDO:0015480 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015481 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015477 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015471 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015467 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015464 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015465 NORD:1013 MONDO:NORD NORD:1013 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1013 MONDO:NORD
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MONDO:0015461 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015459 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015455 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015451 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015452 NORD:984 MONDO:NORD NORD:984 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:984 MONDO:NORD
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MONDO:0015440 NORD:958 MONDO:NORD Chromosome 6 Ring NORD:958 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:958 MONDO:NORD
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MONDO:0015438 NORD:948 MONDO:NORD Chromosome 22 Ring NORD:948 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:948 MONDO:NORD
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MONDO:0015436 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0015437 NORD:947 MONDO:NORD Chromosome 21 Ring NORD:947 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:947 MONDO:NORD
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MONDO:0015434 NORD:943 MONDO:NORD Chromosome 18 Ring NORD:943 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:943 MONDO:NORD
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MONDO:0015376 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015367 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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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
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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
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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
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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
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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
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MONDO:0015300 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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MONDO:0015243 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015240 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0015238 NORD:1909 MONDO:NORD Bosma Arhinia Microphthalmia Syndrome NORD:1909 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1909 MONDO:NORD
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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
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MONDO:0014522 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0014518 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0014516 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0014512 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0014511 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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MONDO:0014485 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0014483 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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MONDO:0011801 NORD:1730 MONDO:NORD Spinocerebellar Ataxia with Axonal Neuropathy NORD:1730 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1730 MONDO:NORD
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MONDO:0011612 NORD:1512 MONDO:NORD Nonketotic Hyperglycinemia NORD:1512 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1512 MONDO:NORD
MONDO:0011610 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0011435 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0011431 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0011432 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0011426 NORD:707 MONDO:NORD NORD:707 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:707 MONDO:NORD
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MONDO:0011225 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0011224 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0011218 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0011214 NORD:1416 MONDO:NORD MDR3 Deficiency NORD:1416 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1416 MONDO:NORD
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MONDO:0011208 NORD:1036 MONDO:NORD Degos Disease NORD:1036 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1036 MONDO:NORD
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MONDO:0011160 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0011147 NORD:946 MONDO:NORD Chromosome 18q- Syndrome NORD:946 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:946 MONDO:NORD
MONDO:0011146 NORD:1546 MONDO:NORD Pallister Killian Mosaic Syndrome NORD:1546 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1546 MONDO:NORD
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@@ -7324,79 +7287,79 @@ MONDO:0010836 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0010832 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010830 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010831 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0010829 NORD:888 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:0010827 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010828 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0010829 NORD:888 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
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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 X-linked Intellectual Disability Syndrome NORD:753 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:753 MONDO:NORD
MONDO:0010517 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010518 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010515 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010516 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0010514 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:0010512 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare 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 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010503 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010502 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010501 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010499 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010500 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0010498 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0010496 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010497 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0010498 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010495 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0010496 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010493 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010494 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010492 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0010491 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010490 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0010491 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010488 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010489 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0010487 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010486 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0010487 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0010485 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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-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 http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0010308 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010309 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010310 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010307 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0010308 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010306 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010305 NORD:1966 MONDO:NORD NORD:1966 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1966 MONDO:NORD
MONDO:0010300 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 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010294 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010289 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0010293 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010286 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010285 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010284 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -7694,26 +7656,26 @@ MONDO:0010283 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0010281 NORD:1033 MONDO:NORD NORD:1033 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1033 MONDO:NORD
MONDO:0010279 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010278 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0010277 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010275 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0010277 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010274 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:0010270 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 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0010259 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010261 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0010259 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010258 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010256 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010251 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010252 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0010248 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010250 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010247 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0010248 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010246 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010243 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010245 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -7725,47 +7687,47 @@ MONDO:0010235 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0010233 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010231 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010232 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0010230 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0010227 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010228 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0010230 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010226 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0010227 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010225 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0010224 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010223 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0010224 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0010221 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010222 NORD:1868 MONDO:NORD NORD:1868 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1868 MONDO:NORD
+MONDO:0010218 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010220 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0010221 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010217 NORD:1035 MONDO:NORD De Sanctis Cacchione Syndrome NORD:1035 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1035 MONDO:NORD
-MONDO:0010218 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0010216 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010215 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0010216 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0010214 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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
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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
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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
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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
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MONDO:0010101 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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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
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MONDO:0010082 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0010080 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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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
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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
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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
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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
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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
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MONDO:0010008 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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MONDO:0009091 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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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
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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
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MONDO:0008652 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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MONDO:0008618 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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MONDO:0008560 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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MONDO:0008554 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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MONDO:0008547 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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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
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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
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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
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MONDO:0008502 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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 http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1473 MONDO:NORD
MONDO:0008312 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008310 NORD:1257 MONDO:NORD NORD:1257 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1257 MONDO:NORD
-MONDO:0008311 NORD:1473 MONDO:NORD Mulvihill-Smith Syndrome NORD:1473 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1473 MONDO:NORD
MONDO:0008306 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008305 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008303 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -8879,11 +8841,11 @@ MONDO:0008295 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0008293 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008294 NORD:729 MONDO:NORD NORD:729 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:729 MONDO:NORD
MONDO:0008292 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0008291 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008290 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0008291 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0008287 NORD:1206 MONDO:NORD NORD:1206 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1206 MONDO:NORD
MONDO:0008289 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008286 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0008287 NORD:1206 MONDO:NORD NORD:1206 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1206 MONDO:NORD
MONDO:0008283 NORD:1017 MONDO:NORD NORD:1017 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1017 MONDO:NORD
MONDO:0008278 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008280 NORD:1570 MONDO:NORD Peutz Jeghers Syndrome NORD:1570 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1570 MONDO:NORD
@@ -8891,76 +8853,76 @@ MONDO:0008276 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0008275 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008273 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008272 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0008271 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008270 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0008271 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008269 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0008267 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008266 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0008267 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008265 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0008264 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008263 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0008264 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008261 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008262 NORD:1587 MONDO:NORD NORD:1587 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1587 MONDO:NORD
-MONDO:0008260 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008259 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0008260 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008250 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0008244 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008246 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008245 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0008244 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008237 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008234 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008233 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008227 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008228 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008224 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0008223 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008222 NORD:1883 MONDO:NORD NORD:1883 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1883 MONDO:NORD
-MONDO:0008219 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0008221 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008218 NORD:1211 MONDO:NORD NORD:1211 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1211 MONDO:NORD
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MONDO:0008217 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008211 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0008215 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0008210 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008207 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0008206 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0008201 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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-MONDO:0008198 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0008199 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0008197 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0008196 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008195 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0008192 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0008185 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0008182 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0008183 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0008180 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0008179 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008177 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008174 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008175 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0008173 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008172 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0008168 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0008165 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0008163 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0008157 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008155 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008156 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008153 NORD:1618 MONDO:NORD NORD:1618 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1618 MONDO:NORD
-MONDO:0008152 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008151 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0008150 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008148 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008147 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0008146 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008145 NORD:1526 MONDO:NORD NORD:1526 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1526 MONDO:NORD
+MONDO:0008146 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008142 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008138 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0008136 NORD:1528 MONDO:NORD Optic Nerve Hypoplasia NORD:1528 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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
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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
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MONDO:0008101 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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MONDO:0008092 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0008090 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0008086 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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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
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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
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MONDO:0008025 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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MONDO:0008017 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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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
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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
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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
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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
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MONDO:0007445 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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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
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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
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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
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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
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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
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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
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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 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -9768,23 +9728,23 @@ MONDO:0005091 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0005086 NORD:1657 MONDO:NORD NORD:1657 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1657 MONDO:NORD
MONDO:0005077 NORD:1569 MONDO:NORD NORD:1569 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1569 MONDO:NORD
MONDO:0005072 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0005061 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0005060 NORD:1925 MONDO:NORD NORD:1925 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1925 MONDO:NORD
+MONDO:0005061 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0005058 NORD:1356 MONDO:NORD NORD:1356 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1356 MONDO:NORD
MONDO:0005055 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0005045 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0005040 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0005035 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0005034 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0005033 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0005034 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0005029 NORD:1110 MONDO:NORD NORD:1110 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1110 MONDO:NORD
MONDO:0005028 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0005021 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0005006 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0005005 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004997 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0004977 NORD:784 MONDO:NORD NORD:784 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:784 MONDO:NORD
MONDO:0004976 NORD:768 MONDO:NORD NORD:768 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:768 MONDO:NORD
+MONDO:0004977 NORD:784 MONDO:NORD NORD:784 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:784 MONDO:NORD
MONDO:0004974 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004971 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004967 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -9792,9 +9752,9 @@ MONDO:0004958 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0004952 NORD:1246 MONDO:NORD Hodgkin's Disease NORD:1246 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1246 MONDO:NORD
MONDO:0004948 NORD:971 MONDO:NORD Chronic Lymphocytic Leukemia NORD:971 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:971 MONDO:NORD
MONDO:0004944 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0004942 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0004941 NORD:1094 MONDO:NORD NORD:1094 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1094 MONDO:NORD
MONDO:0004933 NORD:1277 MONDO:NORD NORD:1277 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1277 MONDO:NORD
+MONDO:0004941 NORD:1094 MONDO:NORD NORD:1094 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1094 MONDO:NORD
+MONDO:0004942 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004877 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004851 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004802 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -9828,22 +9788,22 @@ MONDO:0004394 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0004392 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004351 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004345 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0004330 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004334 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004329 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0004328 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0004330 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004326 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0004328 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004306 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004301 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0004293 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004291 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0004293 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004289 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004285 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004263 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004257 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0004243 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004245 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004241 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0004243 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004238 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004234 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0004218 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -9868,8 +9828,8 @@ MONDO:0003976 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0003957 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003952 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003933 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0003912 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003911 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0003912 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003882 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003849 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003795 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -9886,17 +9846,17 @@ MONDO:0003698 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0003684 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003669 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003658 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0003649 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003646 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0003649 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003630 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003594 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003582 NORD:1936 MONDO:NORD Hereditary Breast and Ovarian Cancer Syndrome NORD:1936 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1936 MONDO:NORD
MONDO:0003557 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0003539 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003537 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0003539 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003510 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0003508 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003507 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0003508 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003505 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003506 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003465 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -9912,8 +9872,8 @@ MONDO:0003333 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0003326 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003313 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003281 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0003210 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003205 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0003210 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003198 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003196 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003155 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -9927,8 +9887,8 @@ MONDO:0003036 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0003033 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003029 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003024 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0003012 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003011 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0003012 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003008 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0003010 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002999 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -9937,22 +9897,22 @@ MONDO:0002955 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0002930 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002926 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002918 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0002892 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0002897 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002888 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002882 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002878 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0002876 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0002863 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0002860 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002858 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0002860 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002856 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002853 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002840 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002824 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0002817 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002815 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0002817 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002803 Chronic intestinal pseudo-obstruction. http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002783 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002742 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -9969,10 +9929,10 @@ MONDO:0002625 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0002588 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002578 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002571 NORD:2002 MONDO:NORD NORD:2002 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2002 MONDO:NORD
-MONDO:0002546 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002544 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0002501 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0002546 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002490 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0002501 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002479 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0002474 NORD:1608 MONDO:NORD NORD:1608 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1608 MONDO:NORD
MONDO:0002470 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -10004,29 +9964,29 @@ MONDO:0001994 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0001977 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0001982 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0001976 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
-MONDO:0001971 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0001969 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
+MONDO:0001971 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0001967 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0001954 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0001945 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0001909 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0001845 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0001846 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0001734 NORD:1802 MONDO:NORD NORD:1802 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1802 MONDO:NORD
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MONDO:0001713 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0001705 NORD:1636 MONDO:NORD Pure Red Cell Aplasia, Acquired NORD:1636 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1636 MONDO:NORD
MONDO:0001620 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0001621 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
@@ -10039,8 +9999,8 @@ MONDO:0001516 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0001490 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0001449 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0001444 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0001417 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0001387 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0001381 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0001347 NORD:1116 MONDO:NORD NORD:1116 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1116 MONDO:NORD
@@ -10056,24 +10016,24 @@ MONDO:0001195 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob
MONDO:0001188 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0001184 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0001154 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0001149 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0001145 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0001109 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0001083 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0001046 NORD:1299 MONDO:NORD NORD:1299 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1299 MONDO:NORD
MONDO:0001032 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0001029 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0001005 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0000984 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0000979 NORD:1580 MONDO:NORD Pinta NORD:1580 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1580 MONDO:NORD
MONDO:0000956 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0000928 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0000914 NORD:883 MONDO:NORD CADASIL NORD:883 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:883 MONDO:NORD
MONDO:0000912 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0000909 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0000910 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0000908 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0000863 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0000845 NORD:1147 MONDO:NORD NORD:1147 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1147 MONDO:NORD
MONDO:0000764 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0000736 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0000754 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0000732 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0000733 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0000722 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0000507 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0000498 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0000463 NORD:1515 MONDO:NORD Urofacial Syndrome NORD:1515 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1515 MONDO:NORD
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MONDO:0000453 NORD:2019 MONDO:NORD NORD:2019 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2019 MONDO:NORD
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MONDO:0000437 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
MONDO:0000430 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0000380 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0000330 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0000225 NORD:1254 MONDO:NORD Human Monocytic Ehrlichiosis (HME) NORD:1254 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1254 MONDO:NORD
MONDO:0000212 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0000200 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0000179 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0000156 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0000141 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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MONDO:0000133 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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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
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MONDO:0000023 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD
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diff --git a/src/ontology/external/ordo-subsets.robot.owl b/src/ontology/external/ordo-subsets.robot.owl
index c8d3f2f7..0876035c 100644
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@@ -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
-
-
-
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- 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
-
-
-
-
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- http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder
-
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- http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder
- Orphanet:592888
-
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-
-
@@ -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
-
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-
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- http://purl.obolibrary.org/obo/mondo#ordo_disorder
- Orphanet:168486
-
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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, RodrÃguez 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 @@