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Add disease descriptions

enhancementNew feature or requestNew feature or request

Status: Open.

#268 In cancervariants/disease-normalization;

· jsstevenson opened on Dec 2, 2025

/normalize should include source name in Coding object

enhancementNew feature or requestNew feature or request

priority:mediumMedium priorityMedium priority

Status: Open.

Feature

#261 In cancervariants/disease-normalization;

· korikuzma opened on Sep 29, 2025

NCIt ID normalizes to a different NCIt ID

bugSomething isn't workingSomething isn't working

priority:mediumMedium priorityMedium priority

Status: Open.

#244 In cancervariants/disease-normalization;

· korikuzma opened on Jul 3, 2025

Provide pediatric annotation for DO terms

enhancementNew feature or requestNew feature or request

priority:lowLow priorityLow priority

stale-exempt

Status: Open.

#243 In cancervariants/disease-normalization;

· jsstevenson opened on Jul 3, 2025

Use GKS-based disease model for all endpoints

Status: Open.

#238 In cancervariants/disease-normalization;

· jsstevenson opened on Mar 31, 2025

"IDH-mutant astrocytoma` group not merging properly

bugSomething isn't workingSomething isn't working

Status: Open.

#237 In cancervariants/disease-normalization;

· jsstevenson opened on Mar 31, 2025

silent CLI arg is inconsistent/imperfectly applied

bugSomething isn't workingSomething isn't working

Status: Open.

#229 In cancervariants/disease-normalization;

· jsstevenson opened on Feb 25, 2025

Schema discrepancy - Missing oncologic_disease column in PostgreSQL database dump

bugSomething isn't workingSomething isn't working

Status: Open.

#226 In cancervariants/disease-normalization;

· JackCuihfb opened on Feb 19, 2025

Don't import disease synonyms that are RELATED for Mondo

enhancementNew feature or requestNew feature or request

Status: Open.

#224 In cancervariants/disease-normalization;

· jsstevenson opened on Feb 11, 2025

Capture UniProt disease entries

enhancementNew feature or requestNew feature or request

priority:lowLow priorityLow priority

stale-exempt

Status: Open.

#199 In cancervariants/disease-normalization;

· jsstevenson opened on Sep 11, 2024

Add omim-directory console entrypoint

enhancementNew feature or requestNew feature or request

priority:lowLow priorityLow priority

stale-exempt

Status: Open.

#190 In cancervariants/disease-normalization;

· jsstevenson opened on Jun 25, 2024

Use Mondo ID instead of NCIt ID to designate normalized groups

enhancementNew feature or requestNew feature or request

priority:mediumMedium priorityMedium priority

stale-exempt

Status: Open.

#176 In cancervariants/disease-normalization;

· jsstevenson opened on Jan 30, 2024