|
gptkbp:instanceOf
|
neurodegenerative disease
|
|
gptkbp:affects
|
central nervous system
|
|
gptkbp:alsoKnownAs
|
gptkb:Huntington's_disease
HD
|
|
gptkbp:casualties
|
yes
|
|
gptkbp:category
|
genetic disorder
rare disease
movement disorder
|
|
gptkbp:causedBy
|
mutation in HTT gene
|
|
gptkbp:diagnosedBy
|
genetic testing
|
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gptkbp:firstDescribed
|
gptkb:George_Huntington
1872
|
|
gptkbp:geneticLocus
|
gptkb:4p16.3
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Huntington's chorea
|
|
gptkbp:ICD-10_code
|
G10
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:MeSH_ID
|
D006816
|
|
gptkbp:mutationAssociatedWith
|
CAG trinucleotide repeat expansion
|
|
gptkbp:OMIM
|
143100
|
|
gptkbp:onset
|
mid-adulthood
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:progression
|
progressive
|
|
gptkbp:proteinAffected
|
huntingtin
|
|
gptkbp:riskFactor
|
family history
|
|
gptkbp:symptom
|
gptkb:dementia
gptkb:depression
cognitive decline
chorea
involuntary movements
motor dysfunction
personality changes
psychiatric symptoms
|
|
gptkbp:treatment
|
no cure
symptomatic
|
|
gptkbp:bfsParent
|
gptkb:Huntington_disease
|
|
gptkbp:bfsLayer
|
7
|