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Namespace Prefixes

PrefixIRI
n6https://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#
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_0111244
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_2121 _:vb50944466 n2:DOID_0080015
rdfs:label
palmoplantar keratoderma and congenital alopecia 1
wdrs:describedby
n6:doid.owl
obo:id
DOID:0111244
obo:hasDbXref
UMLS_CUI:C1863093 ORDO:1010 MESH:C537050 GARD:604 OMIM:104100
obo:hasExactSynonym
PPK-CA, Stevanovic type autosomal dominant palmoplantar keratoderma and congenital alopecia PPKCA1 PPKCA Stevanovic type keratoderma-hypotrichosis-leukonychia totalis syndrome autosomal dominant palmoplantar hyperkeratosis and congenital alopecia palmoplantar keratoderma and congenital alopecia, Stevanovic type
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31.
Subject Item
_:vb50944466
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004019
owl:someValuesFrom
n2:HP_0001197
wdrs:describedby
n6:doid.owl