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Disease Ontology Browser
Gordon Holmes syndrome (DOID:0111587)
Alliance: disease page
Synonyms: CAHH; cerebellar ataxia-hypogonadism syndrome; GDHS; LHRH deficiency and ataxia; luteinizing hormone-releasing hormone deficiency with ataxia
Alt IDs: OMIM:212840, MESH:C565870, ORDO:1173, UMLS_CUI:C1859305
Definition: An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory