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Namespace Prefixes

PrefixIRI
n7https://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_0111550
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_2121 _:vb50945034 n2:DOID_0050736
rdfs:label
scalp-ear-nipple syndrome
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111550
obo:hasDbXref
GARD:159 UMLS_CUI:C1867020 OMIM:181270 ORDO:2036 SNOMEDCT_US_2021_09_01:721888002 MESH:C536623
obo:hasExactSynonym
SENS hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples Sen Syndrome Finlay-Marks syndrome
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in KCTD1 on chromosome 18q11.2.
Subject Item
_:vb50945034
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n7:doid.owl