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Echinobase
Summary Literature (0)
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,

Echinobase Genes :


OMIM:
MIM:143100 - huntington disease; hd

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): neurodegenerative disease (is_a)