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Repository for the Human Disease Ontology.
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Missing UMLS refs #1345

Open drobbarfield opened 3 months ago

drobbarfield commented 3 months ago

Is your request related to a specific disease? Please describe.

Similar request to https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/1242

The following diseases are missing the associated UMLS refs: DOID:8642 Hodgkin's paragranuloma C0019829 DOID:3443 mammary Paget's disease C0030185 DOID:0081050 primary cutaneous gamma-delta T-cell lymphoma C1707547 DOID:0081037 mixed phenotype acute leukemia with MLL rearranged C2826048 DOID:0070475 SMARCB1-deficient renal medullary carcinoma C5708330 DOID:0081277 diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype C5669918 DOID:0080906 CNS neuroblastoma with FOXR2 activation C5670625 DOID:0081413 renal cell carcinoma with MiT translocations C5708328|C4518356 DOID:3033 colon signet ring adenocarcinoma C1707436|C0279640 DOID:0081093 acute myeloid leukemia with t(8;21); (q22; q22.1) C2347540|C5707782|C1292774 DOID:0081315 central nervous system tumor with BCOR internal tandem duplication C5670630 DOID:0080904 astroblastoma, MN1-altered C0334587|C5708129|C5708128 DOID:0081279 diffuse astrocytoma, MYB- or MYBL1-altered C5575349|C5575348 DOID:0081305 polymorphous low grade neuroepithelial tumour of the young C5556330

Describe the proposed change(s) Please review the UMLS refs and update the database as appropriate.

References See UMLS references above.

csbjohnson commented 3 months ago

Hi Dylan, @drobbarfield, thank you for your request on updating UMLS refs. We will review it and get back to you soon.

Best, Claudia Marie Sánchez-Beato Johnson