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Namespace Prefixes

PrefixIRI
n5https://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_0070218
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_13317 _:vb50939933
rdfs:label
familial hyperinsulinemic hypoglycemia 2
wdrs:describedby
n5:doid.owl
obo:id
DOID:0070218
obo:hasDbXref
OMIM:601820
obo:hasExactSynonym
HHF2 hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1.
Subject Item
_:vb50939933
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004019
owl:someValuesFrom
n2:SO_0001537
wdrs:describedby
n5:doid.owl