Search Ontology:
Human Disease

Gordon Holmes syndrome

Term ID
DOID:0111587
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 the RNF216 gene on chromosome 7p22.1. (3)
References
Ontology
Human Disease   ( DOID:0111587 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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