Statements (21)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:associatedWith |
neurodegenerative disease
Huntington disease-like syndrome |
gptkbp:causedBy |
CAG/CTG repeat expansion in JPH3 gene
|
gptkbp:commonIn |
individuals of African ancestry
|
gptkbp:firstDescribed |
2001
|
gptkbp:fullName |
Huntington disease-like 2
|
gptkbp:gene |
JPH3
|
https://www.w3.org/2000/01/rdf-schema#label |
HDL2
|
gptkbp:inheritance |
autosomal dominant
|
gptkbp:locatedOnChromosome |
gptkb:16q24.3
|
gptkbp:mutationAssociatedWith |
JPH3 gene
|
gptkbp:OMIM |
606438
|
gptkbp:prevalence |
rare
|
gptkbp:relatedTo |
gptkb:Huntington's_disease
|
gptkbp:symptom |
gptkb:dementia
chorea psychiatric symptoms |
gptkbp:bfsParent |
gptkb:Huntington's_disease-like_syndrome
gptkb:High-density_lipoprotein_(HDL) |
gptkbp:bfsLayer |
7
|