DOID:12858 - Huntington's disease
Disease Ontology Definition:A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities.
Synonyms: HD; Huntington disease; Huntington's chorea
|OMIM:143100 - HUNTINGTON DISEASE; HD|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : htt
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): neurodegenerative disease (is_a)