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Namespace Prefixes

PrefixIRI
n4https://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_0111821
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_225 _:vb50945540 _:vb50945541 n2:DOID_0080012
rdfs:label
ichthyosis follicularis-alopecia-photophobia syndrome 1
wdrs:describedby
n4:doid.owl
obo:id
DOID:0111821
obo:hasDbXref
OMIM:308205 UMLS_CUI:C1839988 ORDO:2273 GARD:2952 MESH:C536085
obo:hasExactSynonym
ichthyosis follicularis-atrichia-photophobia syndrome 1 IFAP syndrome 1 IFAP syndrome 1 with or without BRESHECK syndrome
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in MBTPS2 on chromosome Xp22.12.
Subject Item
_:vb50945540
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000149
wdrs:describedby
n4:doid.owl
Subject Item
_:vb50945541
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0002200
owl:someValuesFrom
n2:HP_0011368
wdrs:describedby
n4:doid.owl