OBO ID: DOID:0111587
Term Name: Gordon Holmes syndrome Search Ontology:
Synonyms:
  • CAHH
  • cerebellar ataxia-hypogonadism syndrome
  • GDHS
  • LHRH deficiency and ataxia
  • luteinizing hormone-releasing hormone deficiency with ataxia
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 RNF216 on chromosome 7p22.1. (3)
References:
Ontology: Human Disease   (DOID:0111587)
OTHER Gordon Holmes syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RNF216 Cerebellar ataxia and hypogonadotropic hypogonadism 212840
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None