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Namespace Prefixes

Prefix	IRI
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wdrs	http://www.w3.org/2007/05/powder-s#
dc	http://purl.org/dc/elements/1.1/
obo	http://www.geneontology.org/formats/oboInOwl#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

_:vb50938516

rdf:type

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wdrs:describedby

n7:doid.owl

dc:type

n3:ECO_0007636 n3:ECO_0007637 n3:ECO_0007638

owl:annotatedProperty

n3:IAO_0000115

owl:annotatedSource

n3:DOID_0060233

owl:annotatedTarget

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.

obo:hasDbXref

url:http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome url:https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract url:http://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome