Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/240900 http://purl.bioontology.org/ontology/OMIM/240900
Preferred Name	HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
Synonyms	HIHGHH
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HIHGHH
prefLabel	HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY
Gene Symbol	AKT2 HIHGHH
Scope Statement	Caused by mutation in the V-Akt murine thymoma viral oncogene homolog-2 gene (AKT2, 164731.0002) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU006965 http://purl.bioontology.org/ontology/OMIM/MTHU032135 http://purl.bioontology.org/ontology/OMIM/MTHU032137 http://purl.bioontology.org/ontology/OMIM/MTHU032140 http://purl.bioontology.org/ontology/OMIM/MTHU032142 http://purl.bioontology.org/ontology/OMIM/MTHU000370 http://purl.bioontology.org/ontology/OMIM/MTHU032139 http://purl.bioontology.org/ontology/OMIM/MTHU032138 http://purl.bioontology.org/ontology/OMIM/MTHU024934 http://purl.bioontology.org/ontology/OMIM/MTHU032136 http://purl.bioontology.org/ontology/OMIM/MTHU020041 See more See less
tui	T047
Gene Locus	19q13.1-q13.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	240900
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3278384
OMIM Entry Type	3
OMIM MimType Value	pound

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