Huntington Disease-Like 1

Preferred Label : Huntington Disease-Like 1;

NCIt synonyms : HDL1;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the PRNP gene encoding major prion protein. It is characterized by cognitive decline, difficulties with coordination and gait, and changes in personality.;

Details

Origin ID

C214872;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- PRNP Gene [NCIt concept]

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