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DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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NTR: cone-rod dystrophy 22 #1294

Closed MonikaTomczuk closed 5 months ago

MonikaTomczuk commented 8 months ago

Requesting the following for MGI J:307901 (https://pubmed.ncbi.nlm.nih.gov/33077892/).

Label: cone-rod dystrophy 22 Definition: A cone-rod dystrophy that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11. Definition ref: https://pubmed.ncbi.nlm.nih.gov/33077892/ Parent DO: cone-rod dystrophy DOID:0050572 Exact synonym: CORD22 DbXref: OMIM:619531

Thank you, Monika Tomczuk MGI Curator

lschriml commented 5 months ago

added to DO