Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

Preferred Name	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3
Synonyms	HHF3
ID	http://purl.bioontology.org/ontology/OMIM/602485
altLabel	HHF3
cui	C1865290
Gene Locus	7p15-p13
Gene Symbol	PNDM1 HHF3 GCK
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000412 http://purl.bioontology.org/ontology/OMIM/MTHU000372 http://purl.bioontology.org/ontology/OMIM/MTHU000370 http://purl.bioontology.org/ontology/OMIM/MTHU000415 http://purl.bioontology.org/ontology/OMIM/MTHU000368 http://purl.bioontology.org/ontology/OMIM/MTHU068342 http://purl.bioontology.org/ontology/OMIM/MTHU005383 http://purl.bioontology.org/ontology/OMIM/MTHU000411
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	602485
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3
Scope Statement	Caused by mutation in the glucokinase gene (GCK, 138079.0009) [MOLECULAR BASIS] Genetic heterogeneity (see HHF1 256450) [MISCELLANEOUS]
tui	T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C538374	MESH	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C538374	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MESH/C538374	MESH	LOOM