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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#
n7http://purl.obolibrary.org/obo/doid#
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_1700
rdf:type
owl:Class
rdfs:subClassOf
_:vb50950072 _:vb50950076 n2:DOID_0080012 n2:DOID_1697
rdfs:label
X-linked ichthyosis
rdfs:comment
OMIM mapping confirmed by DO. [LS].
wdrs:describedby
n4:doid.owl
obo:id
DOID:1700
obo:hasDbXref
GARD:7904 UMLS_CUI:C0079588 ICD10CM:Q80.1 MESH:D016114 OMIM:308100 NCI:C84779 SNOMEDCT_US_2021_09_01:72523005
obo:hasExactSynonym
X-linked recessive ichthyosis X-linked ichthyosis with steryl-sulphatase deficiency X-linked placental steryl-sulphatase deficiency
obo:hasOBONamespace
disease_ontology
obo:inSubset
n7:NCIthesaurus
n2:IAO_0000115
An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22.
Subject Item
_:vb50950072
rdf:type
owl:Class
owl:intersectionOf
_:vb50950075
wdrs:describedby
n4:doid.owl
Subject Item
_:vb50950073
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004026
owl:someValuesFrom
n2:UBERON_0000014
wdrs:describedby
n4:doid.owl
Subject Item
_:vb50950074
rdf:first
_:vb50950073
rdf:rest
rdf:nil
wdrs:describedby
n4:doid.owl
Subject Item
_:vb50950075
rdf:first
n2:DOID_4
rdf:rest
_:vb50950074
wdrs:describedby
n4:doid.owl
Subject Item
_:vb50950076
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000149
wdrs:describedby
n4:doid.owl