Issues

• Switch to publishing on GitHub Container Registry

  cancervariants/disease-normalization#284 · Filter by author korikuzma opened on Oct 19, 2026
  1

  

• Update to latest GKM schemas

  cancervariants/disease-normalization#280 · Filter by author jsstevenson opened on Oct 9, 2026
  

• Add disease descriptions

  enhancement
  cancervariants/disease-normalization#268 · Filter by author jsstevenson opened on Dec 2, 2025

• /normalize should include source name in Coding object

  enhancementpriority:mediumstale
  Feature

  cancervariants/disease-normalization#261 · Filter by author korikuzma opened on Sep 29, 2025
  2

• NCIt ID normalizes to a different NCIt ID

  bugpriority:medium
  cancervariants/disease-normalization#244 · Filter by author korikuzma opened on Jul 3, 2025
  7

  

• Provide pediatric annotation for DO terms

  enhancementpriority:lowstale-exempt
  cancervariants/disease-normalization#243 · Filter by author jsstevenson opened on Jul 3, 2025
  1

• Use GKS-based disease model for all endpoints

  cancervariants/disease-normalization#238 · Filter by author jsstevenson opened on Mar 31, 2025

• "IDH-mutant astrocytoma` group not merging properly

  bug
  cancervariants/disease-normalization#237 · Filter by author jsstevenson opened on Mar 31, 2025

• silent CLI arg is inconsistent/imperfectly applied

  bug
  cancervariants/disease-normalization#229 · Filter by author jsstevenson opened on Feb 25, 2025
  1

• Schema discrepancy - Missing oncologic_disease column in PostgreSQL database dump

  bug
  cancervariants/disease-normalization#226 · Filter by author JackCuihfb opened on Feb 19, 2025

• Don't import disease synonyms that are RELATED for Mondo

  enhancement
  cancervariants/disease-normalization#224 · Filter by author jsstevenson opened on Feb 11, 2025
  

• Capture UniProt disease entries

  enhancementpriority:lowstale-exempt
  cancervariants/disease-normalization#199 · Filter by author jsstevenson opened on Sep 11, 2024

• Add omim-directory console entrypoint

  enhancementpriority:lowstale-exempt
  cancervariants/disease-normalization#190 · Filter by author jsstevenson opened on Jun 25, 2024
  1

• Use Mondo ID instead of NCIt ID to designate normalized groups

  enhancementpriority:mediumstale-exempt
  cancervariants/disease-normalization#176 · Filter by author jsstevenson opened on Jan 30, 2024
  1

• Refine Base.load_disease()

  bugpriority:lowstale-exempt
  cancervariants/disease-normalization#173 · Filter by author jsstevenson opened on Dec 2, 2023
  1

• Pickier ingest of xrefs/associated_with

  priority:mediumstale-exempt
  cancervariants/disease-normalization#172 · Filter by author jsstevenson opened on Dec 2, 2023
  2

• Add methods to fetch parent/child/sibling terms

  enhancementpriority:lowstale-exempt
  cancervariants/disease-normalization#139 · Filter by author jsstevenson opened on Sep 9, 2023
  1

• Add deprecated oncotree terms and a "deprecated term" match type

  enhancementpriority:mediumstale-exempt
  cancervariants/disease-normalization#138 · Filter by author jsstevenson opened on Sep 9, 2023
  1

• Remove search result formatting options

  enhancementpriority:lowstale-exempt
  cancervariants/disease-normalization#133 · Filter by author jsstevenson opened on Sep 9, 2023
  1

• Add documentation

  documentationpriority:mediumstale-exempt
  cancervariants/disease-normalization#132 · Filter by author jsstevenson opened on Sep 9, 2023
  2

• NCIt import issues

  bugNCIt
  cancervariants/disease-normalization#120 · Filter by author jsstevenson opened on May 12, 2023
  4

• Include descendants of MONDO_0021178 ("injury")

  bugpriority:lowstale-exempt
  cancervariants/disease-normalization#119 · Filter by author jsstevenson opened on May 9, 2023
  1

• Fourth Ventricle Ependymal Tumor (ncit:C131593) returns no match

  bugNCIt
  cancervariants/disease-normalization#111 · Filter by author korikuzma opened on Jan 16, 2023
  3

• Only create normalized groups for sizes n > 1

  performancepriority:lowstale-exempt
  cancervariants/disease-normalization#110 · Filter by author jsstevenson opened on Jan 13, 2023
  2

• Don't import obsolete MONDO/NCIt concepts

  bugMONDONCIt
  cancervariants/disease-normalization#93 · Filter by author jsstevenson opened on Dec 19, 2022
  1