NTR: cone-rod dystrophy 21

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Repository for the Human Disease Ontology.

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NTR: cone-rod dystrophy 21 #1293

Closed MonikaTomczuk closed 2 months ago

MonikaTomczuk commented 5 months ago

Hi,

Requesting this term for MGI J:341125 (https://pubmed.ncbi.nlm.nih.gov/37691820/).

Label: cone-rod dystrophy 21 Definition: A cone-rod dystrophy with early macular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13. Definition ref: https://pubmed.ncbi.nlm.nih.gov/25983245/ Parent DO: DOID:0050572 cone-rod dystrophy Exact synonym: CORD21 DbXref: OMIM:616502

Thank you, Monika Tomczuk MGI Curator

allenbaron commented 5 months ago

Thanks Monika. I'll update the cone-rod dystrophy genetic subtypes in the DO (here and #1294). If you prefer or it's easier for you, feel free to add multiple related diseases in a single issue.

lschriml commented 2 months ago

done, added to DO