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Metadata
ID DOID:0090104
Name Huntington's disease-like 2
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.
https://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome, https://www.omim.org/entry/606438
Xrefs

ICD10CM:G10

OMIM:606438

ORDO:98934

Subsets

DO_rare_slim

Synonyms

HDL2 [EXACT]

Huntington disease-like 2 [EXACT]

Parent Relationships

is_a neurodegenerative disease

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