{"orpha":101049,"name":"Familial hypocalciuric hypercalcemia type 2","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["FHH type 2"],"definition":null,"note":"This disease is described under Familial hypocalciuric hypercalcemia","url":"https://raremap.alftech.space/d/ORPHA-101049/","orphanet_url":"https://www.orpha.net/en/disease/detail/101049","names":{"fr":{"name":"Hypercalcémie hypocalciurique familiale type 2","synonyms":["FHH type 2","Syndrome de Marx type 2"]},"de":{"name":"Hyperkalzämie, familiäre hypokalziurische, Typ 2","synonyms":["FHH Typ 2"]},"es":{"name":"Hipercalcemia hipocalciúrica familiar tipo 2","synonyms":["FHH tipo 2"]},"it":{"name":"Ipercalcemia ipocalciurica familiare, tipo 2","synonyms":["FHH, tipo 2"]},"nl":{"name":"Familiale hypocalciurische hypercalciëmie type 2","synonyms":["FHH type 2"]},"pt":{"name":"Hipercalcemia hipocalciúrica, familiar, tipo 2"},"pl":{"name":"Rodzinna hipokalcuria hiperkalcemiczna typu 2","synonyms":["FHH type 2"]},"cs":{"name":"Familiární hypokalciurická hyperkalcémie, typ 2","synonyms":["FHH, typ 2"]},"uk":{"name":"Сімейна гіпокальціурична гіперкальціємія, тип 2","synonyms":["FHH тип 2"]},"zh":{"name":"家族性低尿钙性高钙血症2型","synonyms":["FHH2型"]},"tr":{"name":"Ailesel hipokalsiürik hiperkalsemi tip 2","synonyms":["FHH tip 2"]}},"xrefs":[{"source":"OMIM","code":"145981","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A51.2","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0007792","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537146","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1840347","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9758","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":405,"name":"Familial hypocalciuric hypercalcemia","classifications":[147,156,184,193,199,233]}],"children":[],"genes":[{"symbol":"GNA11","name":"G protein subunit alpha 11","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23802516[PMID]","hgnc":"4379","ensembl":"ENSG00000088256","omim":"139313","loci":["19p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}