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Namespace Prefixes

PrefixIRI
n5https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
rdfshttp://www.w3.org/2000/01/rdf-schema#
obohttp://www.geneontology.org/formats/oboInOwl#
n8http://purl.obolibrary.org/obo/doid#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
n2:DOID_0060233
rdf:type
owl:Class
rdfs:subClassOf
_:vb50938514 _:vb50938515 n2:DOID_0050177 n2:DOID_0080690
rdfs:label
cardiofaciocutaneous syndrome
rdfs:comment
NT MGI.
wdrs:describedby
n5:doid.owl
obo:id
DOID:0060233
obo:created_by
emitraka
obo:creation_date
2015-01-23T15:37:07Z
obo:hasDbXref
ORDO:1340 ICD10CM:Q87.8 OMIM:PS115150 GARD:9146
obo:hasExactSynonym
CFC syndrome cardio-facial-cutaneous syndrome
obo:hasOBONamespace
disease_ontology
obo:inSubset
n8:DO_rare_slim
n2:IAO_0000115
A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes.
Subject Item
_:vb50938514
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0002452
owl:someValuesFrom
n2:SYMP_0000292
wdrs:describedby
n5:doid.owl
Subject Item
_:vb50938515
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004019
owl:someValuesFrom
n2:SO_0000704
wdrs:describedby
n5:doid.owl