Metadata | |
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ID | DOID:0090103 |
Name | Huntington's disease-like 1 |
Definition | A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13. https://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome, https://www.omim.org/entry/603218 |
Xrefs | |
Subsets |
DO_infectious_disease_slim DO_rare_slim |
Synonyms |
autosomal dominant Huntington-like neurodegenerative disorder [EXACT] early-onset prion disease with prominent psychiatric features [EXACT] HDL1 [EXACT] HLN1 [EXACT] Huntington disease-like 1 [EXACT] Huntington-like neurodegenerative disorder 1 [EXACT] |
Parent Relationships |
is_a prion disease |