{"orpha":68346,"name":"Rare genetic skin disease","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Rare genodermatosis"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-68346/","orphanet_url":"https://www.orpha.net/en/disease/detail/68346","names":{"fr":{"name":"Maladie dermatologique rare d'origine génétique","synonyms":["Génodermatose rare"]},"de":{"name":"Hautkrankheit, seltene, genetisch bedingte","synonyms":["Genodermatose, seltene"]},"es":{"name":"Enfermedades de la piel genéticas raras","synonyms":["Genodermatosis rara"]},"it":{"name":"Malattia cutanea genetica rara","synonyms":["Genodermatosi rara"]},"nl":{"name":"Zeldzame genetische huidziekte","synonyms":["Zeldzame genodermatosis"]},"pt":{"name":"Doença dermatológica genética rara","synonyms":["Genodermatose rara"]},"pl":{"name":"Rzadkie genetyczne choroby skóry","synonyms":["Rzadkie genodermatozy"]},"cs":{"name":"Vzácná geneticky podmíněná onemocnění kůže","synonyms":["Vzácná genodermatóza"]},"uk":{"name":"Рідкісне генетично обумовлене захворювання шкіри","synonyms":["Рідкісні генодерматози"]},"zh":{"name":"罕见遗传性皮肤病","synonyms":["罕见遗传性皮肤病"]},"tr":{"name":"Nadir genetik deri hastalığı","synonyms":["Nadir genodermatoz"]}},"xrefs":[{"source":"MONDO","code":"19043","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680145","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98696,"name":"OBSOLETE: Genodermatosis with ocular features","status":"inactive"}],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":98053,"name":"Rare genetic disease","classifications":[156]}],"children":[{"orpha":622720,"name":"Genetic autoinflammatory syndrome with skin involvement","type":"Category"},{"orpha":183472,"name":"Genetic dermis disorder","type":"Category"},{"orpha":183447,"name":"Genetic epidermal appendage anomaly","type":"Category"},{"orpha":183426,"name":"Genetic epidermal disorder","type":"Category"},{"orpha":183494,"name":"Genetic immune deficiency with skin involvement","type":"Category"},{"orpha":183490,"name":"Genetic photodermatosis","type":"Category"},{"orpha":183463,"name":"Genetic pigmentation anomaly of the skin","type":"Category"},{"orpha":183487,"name":"Genetic skin tumor or hamartoma","type":"Category"},{"orpha":183484,"name":"Genetic subcutaneous tissue disorder","type":"Category"},{"orpha":182734,"name":"Genetic urticaria","type":"Clinical group"},{"orpha":79387,"name":"Metabolic disease with skin involvement","type":"Category"},{"orpha":79389,"name":"Premature aging","type":"Category"},{"orpha":77240,"name":"Primary lymphedema","type":"Category"},{"orpha":79385,"name":"Unclassified genetic skin disorder","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}