search

DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
Creative Commons Zero v1.0 Universal
329 stars 108 forks source link

Term review request: Lesch-Nyhan syndrome #1346

Closed vjenkinsFB closed 2 weeks ago

vjenkinsFB commented 2 weeks ago

For Lesch-Nyhan syndrome (DOID:1919), HGNC has changed the gene name to HPRT1 (https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:5157). Thank you!

id: DOID:1919 name: Lesch-Nyhan syndrome def: "A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the hypoxanthine guanine phosphoribosyltransferase (HPRT) gene on chromosome Xq26."

allenbaron commented 2 weeks ago

Thanks. We'll update it.

allenbaron commented 2 weeks ago

I see that the name of the gene has been changed as well. Would you mind if I just use the updated gene symbol in the definition and drop the name?