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50 Open 1,276 Closed
50 Open 1,276 Closed
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Issues list

Revise disease names and definitions with "mental retardation"
#1417 opened Dec 18, 2024 by allenbaron
1
Consider revising the classification of pseudopseudohypoparathyroidism (DOID:4183) complex disease review reclassification
#1416 opened Dec 18, 2024 by allenbaron
@allenbaron
5
Consider adding a tumor predisposing syndrome grouping term CIViC Revisit - Q1 2025 For all issues that are not actionable and need to be revisited; timeframe updated on rolling basis
#1403 opened Nov 1, 2024 by allenbaron January 2025 release
@allenbaron
4
Add ring chromosome syndrome(s) Revisit - Q1 2025 For all issues that are not actionable and need to be revisited; timeframe updated on rolling basis
#1384 opened Sep 19, 2024 by allenbaron January 2025 release
@allenbaron
7
Review & revise dopa-responsive dystonia
#1381 opened Sep 13, 2024 by allenbaron January 2025 release
@allenbaron
3
Revise eye diseases related to 'anterior segment dysgenesis' revise_classification Requires revision of the classification and/or definition of multiple terms
#1372 opened Aug 27, 2024 by allenbaron
@allenbaron
5
Potential review of classification(s) for autosomal recessive cerebellar ataxias
#1366 opened Jul 25, 2024 by allenbaron
@allenbaron
2
NTR: RNA exosomopathy Disease Categories enhancement To Review
#1364 opened Jul 24, 2024 by srengel
@lschriml @allenbaron
6
Consider revising and adding grouping terms for paroxysmal dyskinesias
#1361 opened Jul 11, 2024 by allenbaron
4 tasks
@lschriml
Distinguish or merge 'childhood absence epilepsy' and 'early onset absence epilepsy'
#1360 opened Jul 11, 2024 by allenbaron
@lschriml
Revise tuberculosis (DOID:399) branch
#1358 opened Jul 10, 2024 by allenbaron December 2024 release
@allenbaron
Some upper respiratory diseases are not classified as infectious diseases
#1356 opened Jul 1, 2024 by allenbaron December 2024 release
@allenbaron
5
Review 'colonic disease' subtree and add Ogilvie syndrome
#1355 opened Jun 30, 2024 by allenbaron
@allenbaron
3
Review classification of palmoplantar keratosis and children
#1354 opened Jun 25, 2024 by allenbaron
@lschriml @allenbaron
3
Add descriptions of subsets
#1353 opened Jun 25, 2024 by allenbaron
@allenbaron
1
Need to update OMIM susceptibilities import OMIM
#1349 opened Jun 14, 2024 by allenbaron
@allenbaron
1
Missing UMLS refs
#1345 opened Jun 10, 2024 by dylan-barfield December 2024 release
@allenbaron
1
Unexpected removal of UMLS refs
#1344 opened Jun 10, 2024 by dylan-barfield December 2024 release
@allenbaron
2
OMIM Name Changes low priority
#1333 opened May 15, 2024 by csbjohnson
@csbjohnson
2
add lead SODH
#1314 opened Apr 17, 2024 by lschriml
@lschriml @allenbaron
1
Review classificiation of arrhythmogenic cardiomyopathy genetic subtypes (and Naxos disease)
#1304 opened Feb 21, 2024 by allenbaron
@lschriml
1
Review nomenclature updates to limb-girdle muscular dystrophies
#1303 opened Feb 21, 2024 by allenbaron
@lschriml
1
Review osteosarcoma (DOID:3347) and inferred children
#1252 opened Oct 19, 2023 by allenbaron
@allenbaron
3
Review 'mediastinal neurilemmoma' (DOID:6175) & children
#1249 opened Oct 11, 2023 by allenbaron
@allenbaron
4
Please look into adding these UMLS references
#1242 opened Sep 19, 2023 by dylan-barfield December 2024 release
@allenbaron
1
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