{"orpha":650077,"name":"Genetic central precocious puberty in female","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Genetic CPP in female","Genetic CPP in girl","Genetic central precocious puberty in girl"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-650077/","orphanet_url":"https://www.orpha.net/en/disease/detail/650077","names":{"fr":{"name":"Puberté précoce centrale génétique de la femme","synonyms":["Puberté précoce centrale génétique de la fille"]},"de":{"name":"Genetisch bedingte zentrale vorzeitige Pubertät bei Mädchen","synonyms":["Genetische CPP bei Mädchen"]},"es":{"name":"Pubertad precoz central genética en la mujer","synonyms":["PPC genética en la mujer","PPC genética en la niña","Pubertad precoz central genética en la niña"]},"it":{"name":"Pubertà femminile precoce centrale genetica","synonyms":["CPP genetica femminile","CPP genetica nella ragazza","Pubertà precoce centrale rara nella ragazza"]},"nl":{"name":"Genetische centrale pubertas praecox bij vrouw","synonyms":["Genetische CPP bij meisje","Genetische CPP bij vrouw","Genetische centrale pubertas praecox bij meisje","Genetische centrale vroegtijdige puberteit bij vrouw"]},"pt":{"name":"Puberdade precoce central genética no indivíduo feminino","synonyms":["CPP genética nas raparigas","CPP genética no indivíduo feminino","Puberdade precoce central genética nas raparigas"]},"pl":{"name":"Genetycznie uwarunkowane przedwczesne dojrzewanie płciowe pochodzenia ośrodkowego u kobiety","synonyms":["Genetic CPP in female","Genetic CPP in girl","Genetic central precocious puberty in girl"]},"cs":{"name":"Genetická centrální předčasná puberta u žen","synonyms":["Genetic CPP in female","Genetic CPP in girl","Genetic central precocious puberty in girl"]},"uk":{"name":"Генетично обумовлене центральне передчасне статеве дозрівання у дівчат","synonyms":["Генетично обумовлене центральне передчасне статеве дозрівання у дівчаток","Генетичне CPP у жінок","Генетичне CPP у дівчинки"]}},"xrefs":[{"source":"OMIM","code":"615346","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E22.8","qualifier":"NTBT","icd_relation":"specific","validated":true},{"source":"MONDO","code":"0958354","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"958354","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5816765","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":650182,"name":"Genetic central precocious puberty","classifications":[156]},{"orpha":650070,"name":"Rare central precocious puberty in female","classifications":[193,205]}],"children":[],"genes":[{"symbol":"DLK1","name":"delta like non-canonical Notch ligand 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30733078[PMID]","hgnc":"2907","ensembl":"ENSG00000185559","omim":"176290","loci":["14q32.2"]},{"symbol":"KISS1R","name":"KISS1 receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32228714[PMID]","hgnc":"4510","ensembl":"ENSG00000116014","omim":"604161","loci":["19p13.3"]},{"symbol":"MKRN3","name":"makorin ring finger protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23738509[PMID]","hgnc":"7114","ensembl":"ENSG00000179455","omim":"603856","loci":["15q11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Europe","status":"Validated","source":"38857188[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.8,"area":"Korea, Democratic People's Republic of","status":"Validated","source":"38857188[PMID]_26539988[PMID]_ORPHANET"}],"phenotypes":null}