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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_14671
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050737 n2:DOID_5295 _:vb50949701
rdfs:label
multiple intestinal atresia
rdfs:comment
OMIM mapping confirmed by DO. [SN].
wdrs:describedby
n6:doid.owl
obo:id
DOID:14671
obo:hasDbXref
SNOMEDCT_US_2021_09_01:95472001 ORDO:2300 GARD:3013 MESH:C562441 OMIM:243150 UMLS_CUI:C0220744
obo:hasExactSynonym
Multiple gastrointestinal atresias familial intestinal polyatresia syndrome MEDDRA:10028210 gastrointestinal defects and immunodeficiency syndrome GIDID
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in TTC7A on chromosome 2p21.
Subject Item
_:vb50949701
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000148
wdrs:describedby
n6:doid.owl