Preferred Label : Hypocalciuric hypercalcemia, familial, type III;
Symbol : HHC3;
CISMeF acronym : FBH3; HHC3;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Hypercalcemia, familial benign, type III; Familial benign hypercalcemia, type III; Hypercalcemia, familial benign, oklahoma type; FBH3;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the adaptor-related protein complex 2, sigma-1 subunit gene
(AP2S1, 602242.0001);
Laboratory abnormalities : Hypocalciuria; Hypercalcemia; Hypermagnesemia, mild; Hypophosphatemia, mild;
Prefixed ID : #600740;
Origin ID : 600740;
UMLS CUI : C1833372;
Automatic exact mappings (from CISMeF team)
Broader ORDO disease(s)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)