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Namespace Prefixes

PrefixIRI
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n6http://purl.obolibrary.org/obo/
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dchttp://purl.org/dc/elements/1.1/
obohttp://www.geneontology.org/formats/oboInOwl#
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
_:vb50941133
rdf:type
owl:Axiom
wdrs:describedby
n3:doid.owl
dc:type
n6:ECO_0007645 n6:ECO_0007637
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A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21.
obo:hasDbXref
url:https://rarediseases.info.nih.gov/diseases/9795/disease url:https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair#genes url:https://www.ncbi.nlm.nih.gov/pubmed/29747658