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About:
clgr:
Kaufman_oculocerebrofacial_syndrome
Property
Value
rdf:
type
Syndrome with craniofacial abnormalities
owl:
NamedIndividual
Genetic disorder with OMIM but no gene
Rare syndrome
Autosomal recessive disorder
Congenital disorder
rdfs:
label
Kaufman oculocerebrofacial syndrome
owl:
sameAs
dbr:
Kaufman_oculocerebrofacial_syndrome
prov:
wasDerivedFrom
http://en.wikipedia.org/wiki/Category:Congenital_disorders
http://en.wikipedia.org/wiki/List_of_diseases_(K)
http://en.wikipedia.org/wiki/List_of_syndromes
http://en.wikipedia.org/wiki/Category:Syndromes_with_craniofacial_abnormalities
http://en.wikipedia.org/wiki/Category:Genetic_disorders_with_OMIM_but_no_gene
http://en.wikipedia.org/wiki/Category:Rare_syndromes
http://en.wikipedia.org/wiki/List_of_congenital_disorders
http://en.wikipedia.org/wiki/Category:Autosomal_recessive_disorders
skos:
prefLabel
Kaufman oculocerebrofacial syndrome
clgo:
icd10
Q87.0
clgo:
meshId
C537013
clgo:
omim
244450
clgo:
orpha
2707
clgo:
treatment
Thyroid hormones
Speech–language pathology