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About:
clgr:
Spinocerebellar_ataxia_type_1
Property
Value
rdf:
type
owl:
NamedIndividual
Autosomal dominant disorder
Rare disease
Systemic atrophy primarily affecting the central nervous system
Trinucleotide repeat disorder
rdfs:
label
Spinocerebellar ataxia type 1
owl:
sameAs
dbr:
Spinocerebellar_ataxia_type_1
prov:
wasDerivedFrom
http://en.wikipedia.org/wiki/Spinocerebellar_ataxia
http://en.wikipedia.org/wiki/Category:Autosomal_dominant_disorders
http://en.wikipedia.org/wiki/Category:Rare_diseases
http://en.wikipedia.org/wiki/Chromosome_6
http://en.wikipedia.org/wiki/Category:Systemic_atrophies_primarily_affecting_the_central_nervous_system
http://en.wikipedia.org/wiki/Category:Trinucleotide_repeat_disorders
skos:
prefLabel
Spinocerebellar ataxia type 1
skos:
altLabel
SCA1
Spinocerebellar ataxia
Spinocerebellar ataxia Type 1
spinocerebellar ataxia type 1
spinocerebellar ataxia type-1
clgo:
gradName
Spinocerebellar ataxia 1
clgo:
gradNum
4071
clgo:
complications
pneumonia, physical injury from falls
clgo:
diseasesDB
12339
clgo:
eMedicineSubject
neuro
clgo:
eMedicineTopic
556
clgo:
geneReviewsId
NBK1184
clgo:
geneReviewsName
Spinocerebellar ataxia type 1
clgo:
icd10
G11.8
clgo:
icd9
334.8
clgo:
medicalDiagnosis
Genetic testing
clgo:
meshId
D020754
clgo:
omim
164400
clgo:
orpha
98755
clgo:
symptom
Dysarthria
Ataxia
Dysphagia
Saccade
clgo:
medicalSpecialty
Neurology
is
clgo:
knownFor
of
Huda Zoghbi