Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/145981 http://purl.bioontology.org/ontology/OMIM/145981
Preferred Name	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II
Synonyms	FBH2 FAMILIAL BENIGN HYPERCALCEMIA, TYPE II HYPERCALCEMIA, FAMILIAL BENIGN, TYPE II HHC2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	FBH2 FAMILIAL BENIGN HYPERCALCEMIA, TYPE II HYPERCALCEMIA, FAMILIAL BENIGN, TYPE II HHC2
prefLabel	HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II
Gene Symbol	HHC2 HYPOC2 GNA11
Scope Statement	Affected individuals are generally asymptomatic [MISCELLANEOUS] Caused by mutation in the guanine nucleotide-binding protein, alpha-11 gene (GNA11, 139313.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU017734 http://purl.bioontology.org/ontology/OMIM/MTHU017735 http://purl.bioontology.org/ontology/OMIM/MTHU036717
tui	T047
Gene Locus	19p13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	145981
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C1840347
OMIM Entry Type	3
OMIM MimType Value	pound

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