DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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Term Review request: autosomal dominant intellectual developmental disorder 34 #1224

Closed vjenkinsFB closed 11 months ago

vjenkinsFB commented 11 months ago

autosomal dominant intellectual developmental disorder 34, DOID:0070064, has the following definition:

An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the COL4A3BP gene on chromosome 5q13.3.

HGNC has renamed the gene to CERT1. Could this definition be updated to include the new name? Thank you!

csbjohnson commented 11 months ago

Hi, @vjenkinsFB! Thank you very much for the detailed information you provided on the gene name update of COL4A3BP to CERT1.

I renamed the gene, this update will be reflected in the next DO release.