Summary Literature (0)

DOID:0090104 - Huntington disease-like 2

Disease Ontology Definition:A neurodegenerative disease characterized by autosomal dominant inheritance of a involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset that has material_basis_in a heterozygous expansion of a CAG/CTG repeat in the JPH3 gene on chromosome 16q24.

Synonyms: HDL2,

Echinobase Genes :


OMIM:

MIM:606438 - huntington disease-like 2; hdl2

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee