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Namespace Prefixes

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obo	http://www.geneontology.org/formats/oboInOwl#
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owl	http://www.w3.org/2002/07/owl#
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Statements

Subject Item

n2:DOID_0070217

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n2:DOID_13317 _:vb50939931

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familial hyperinsulinemic hypoglycemia 6

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obo:id

DOID:0070217

obo:hasDbXref

GARD:9931 OMIM:606762 ORDO:35878

obo:hasExactSynonym

HHF6 HI/HA syndrome hyperinsulinism-hyperammonemia syndrome

obo:hasOBONamespace

disease_ontology

n2:IAO_0000115

A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3.

Subject Item

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