Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615361 http://purl.bioontology.org/ontology/OMIM/615361
Preferred Name	HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
Synonyms	HYPOC2
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HYPOC2
prefLabel	HYPOCALCEMIA, AUTOSOMAL DOMINANT 2
Gene Symbol	HHC2 HYPOC2 GNA11
Scope Statement	Caused by mutation in the alpha-11 guanine nucleotide-binding protein gene (GNA11, 139313.0003) [MOLECULAR BASIS] Some patients have asymptomatic hypocalcemia [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU036379 http://purl.bioontology.org/ontology/OMIM/MTHU002773 http://purl.bioontology.org/ontology/OMIM/MTHU000138 http://purl.bioontology.org/ontology/OMIM/MTHU005827 http://purl.bioontology.org/ontology/OMIM/MTHU069645 http://purl.bioontology.org/ontology/OMIM/MTHU044026 http://purl.bioontology.org/ontology/OMIM/MTHU044025 http://purl.bioontology.org/ontology/OMIM/MTHU042494 http://purl.bioontology.org/ontology/OMIM/MTHU013392 See more See less
tui	T047
Gene Locus	19p13
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615361
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018
cui	C3809243
OMIM Entry Type	3
OMIM MimType Value	pound

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