|
gptkbp:instanceOf
|
gptkb:disease
|
|
gptkbp:affects
|
gptkb:spinal_cord
gptkb:cerebellum
|
|
gptkbp:canBeChronic
|
true
|
|
gptkbp:canBeNonProgressive
|
true
|
|
gptkbp:canProgressTo
|
true
|
|
gptkbp:cause
|
disability
loss of coordination
|
|
gptkbp:causedBy
|
genetic disorder
|
|
gptkbp:diagnosedBy
|
neurological examination
genetic testing
|
|
gptkbp:hasOrphanetID
|
ORPHA:98757
|
|
gptkbp:hasResearchDatabase
|
gptkb:GeneReviews
gptkb:Orphanet
gptkb:OMIM
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Human Hereditary Ataxia
|
|
gptkbp:ICD-10_code
|
G11
|
|
gptkbp:inheritance
|
autosomal dominant
autosomal recessive
X-linked
|
|
gptkbp:MeSH_ID
|
D001260
|
|
gptkbp:OMIM
|
213200
|
|
gptkbp:onset
|
childhood
adulthood
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:riskFactor
|
family history
|
|
gptkbp:subspecies
|
gptkb:Friedreich's_ataxia
Episodic ataxia
Spinocerebellar ataxia
|
|
gptkbp:symptom
|
nystagmus
tremor
ataxia
gait disturbance
dysarthria
dysmetria
|
|
gptkbp:treatment
|
occupational therapy
physical therapy
speech therapy
supportive therapy
|
|
gptkbp:bfsParent
|
gptkb:HHA
|
|
gptkbp:bfsLayer
|
7
|