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DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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Term review request: Gaucher's disease subtypes, gene rename: GBA to GBA1 #1212

Closed vjenkinsFB closed 1 year ago

vjenkinsFB commented 1 year ago

Is your request related to a specific disease? Please describe. DOID:0110957 Gaucher's disease type I DOID:0110958 Gaucher's disease type II DOID:0110959 Gaucher's disease type III DOID:0110960 Gaucher's disease perinatal lethal DOID:0112250 Gaucher's disease type IIIC

Describe the proposed change(s)

The definition for these includes the phrase "GBA on chromosome 1q22." HGNC has no gene "GBA", but rather GBA1 on 1q22, GBA2 on 9p13.3, and GBA3 on 4p15.2. Could these be updated to have "GBA1" in the definition? Thanks!

References https://www.genenames.org/tools/search/#!/?query=GBA

allenbaron commented 1 year ago

Granted! It will be in the next release. I also updated the has_material_basis_in phrases to follow the patterns OMIM and we are currently using for inheritance.