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DOID:0090104 - Huntington's disease-like 2
Disease Ontology Definition:A neurodegenerative disease characterized by 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, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24.
Synonyms: HDL2, Huntington disease-like 2,
Xenbase Genes
:
jph3,
jph3.2
| MONDO:0011671 - Huntington disease-like 2 |
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)