{"orpha":101050,"name":"Familial hypocalciuric hypercalcemia type 3","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["FHH type 3"],"definition":null,"note":"This disease is described under Familial hypocalciuric hypercalcemia","url":"https://raremap.alftech.space/d/ORPHA-101050/","orphanet_url":"https://www.orpha.net/en/disease/detail/101050","names":{"fr":{"name":"Hypercalcémie hypocalciurique familiale type 3","synonyms":["FHH type 3","Syndrome de Marx type 3"]},"de":{"name":"Hyperkalzämie, familiäre hypokalziurische, Typ 3","synonyms":["FHH Typ 3"]},"es":{"name":"Hipercalcemia hipocalciúrica familiar tipo 3","synonyms":["FHH tipo 3"]},"it":{"name":"Ipercalcemia ipocalciurica familiare, tipo 3","synonyms":["FHH, tipo 3"]},"nl":{"name":"Familiale hypocalciurische hypercalciëmie type 3","synonyms":["FHH type 3"]},"pt":{"name":"Hipercalcemia hipocalciúrica, familiar, tipo 3"},"pl":{"name":"Rodzinna hipokalcuria hiperkalcemiczna typu 3","synonyms":["FHH type 3"]},"cs":{"name":"Familiární hypokalciurická hyperkalcémie, typ 3","synonyms":["FHH, typ 3"]},"uk":{"name":"Сімейна гіпокальціурична гіперкальціємія, тип 3","synonyms":["FHH тип 3"]},"zh":{"name":"家族性低尿钙性高钙血症3型","synonyms":["FHH3型"]},"tr":{"name":"Ailesel hipokalsiürik hiperkalsemi tip 3","synonyms":["FHH tip 3"]}},"xrefs":[{"source":"OMIM","code":"600740","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":"0010926","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537147","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1833372","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2878","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":"AP2S1","name":"adaptor related protein complex 2 subunit sigma 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23222959[PMID]","hgnc":"565","ensembl":"ENSG00000042753","omim":"602242","loci":["19q13.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}