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363 Open 3,273 Closed

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Issues list

[Merge] MONDO:0957426 autosomal recessive hyper-IgE syndrome into MONDO:0032654 hyper-IgE recurrent infection syndrome 3, autosomal recessive merge

#8401 opened Nov 14, 2024 by twhetzel

[Merge] MONDO:0001389 'congenital coronary artery anomaly' with MONDO:0015203 'coronary artery congenital malformation' merge

#8360 opened Nov 12, 2024 by twhetzel

POLR (3) related leukodystrophies [Revise subclass] Revise subclass

#8351 opened Nov 12, 2024 by kanems

mitochondrial complex deficiency (MONDO:0000066)

#8334 opened Nov 12, 2024 by ValWood

Fix inconsistencies in xrefs related to errors in Synonym sync

#8332 opened Nov 12, 2024 by twhetzel

Updates to fix QC errors for multiple gene associations

#8329 opened Nov 12, 2024 by twhetzel

4 tasks done

New Term Request: Intellectual disability, autosomal recessive New term request

#8327 opened Nov 11, 2024 by Jciesielka1

Synonym Request for DPH5-related diphthamide-deficiency syndrome synonym

#8326 opened Nov 11, 2024 by Jciesielka1

[Merge] MONDO:0034099 'SYNGAP1-related developmental and epileptic encephalopathy' epilepsy medical input needed merge question-OMIM

#8324 opened Nov 8, 2024 by nicolevasilevsky

Try replacing NORM goal with ROBOT commands

#8322 opened Nov 8, 2024 by matentzn

[Obsolete] MONDO:0020627 'epileptic encephalopathy, infantile or early childhood' obsolete

This includes both obsolete and merge requests

#8320 opened Nov 8, 2024 by nicolevasilevsky

[Revise logical def] 'monogenic diabetes' logical def

#8319 opened Nov 8, 2024 by nicolevasilevsky

Classification of familial hypercholesterolemia, by gene, and by zygosity (Orphanet)

#8318 opened Nov 8, 2024 by cmungall

OMIM genes pipeline issues - Superticket

#8317 opened Nov 7, 2024 by twhetzel

3 of 6 tasks

Create QC check to identify when there is >1 affected gene for a gene association

#8316 opened Nov 7, 2024 by twhetzel

Update GH Actions to use new ODK 1.5.3 tech

issue requiring work from the technical team

#8309 opened Nov 6, 2024 by twhetzel

Running refresh-merged returns out of memory error high priority tech

issue requiring work from the technical team

#8308 opened Nov 6, 2024 by twhetzel

Document steps to address new ODK updates

#8307 opened Nov 5, 2024 by twhetzel

Furunculosis (MONDO:0025419) only appears under Fish Disease, not Human bug curateathon2024 user request