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Namespace Prefixes

Prefix	IRI
n7	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
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

n2:DOID_0090128

rdf:type

owl:Class

rdfs:subClassOf

n2:DOID_0080551

rdfs:label

Carvajal syndrome

wdrs:describedby

n7:doid.owl

obo:id

DOID:0090128

obo:hasDbXref

ORDO:65282 GARD:5595 OMIM:605676

obo:hasExactSynonym

dilated cardiomyopathy with woolly hair and keratoderma palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair DCWHK

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24.