About   Help   FAQ
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory