{"orpha":156604,"name":"Genetic parenchymatous liver disease","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"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-156604/","orphanet_url":"https://www.orpha.net/en/disease/detail/156604","names":{"fr":{"name":"Maladie génétique du parenchyme hépatique"},"de":{"name":"Leberkrankheit, parenchymatische, genetisch bedingte"},"es":{"name":"Enfermedad hepática parenquimatosa genética"},"it":{"name":"Malattia epatica parenchimatosa genetica"},"nl":{"name":"Genetische parenchymateuze leverziekte"},"pt":{"name":"Doença parenquimatosa do fígado, genética"},"pl":{"name":"Genetyczna choroba miąższu wątroby"},"cs":{"name":"Geneticky podmíněné parenchymatózní onemocnění jater"},"uk":{"name":"Генетично обумовлене паренхіматозне захворювання печінки"},"zh":{"name":"遗传性肝实质病"},"tr":{"name":"Genetik parankimatöz karaciğer hastalığı"}},"xrefs":[{"source":"MONDO","code":"15508","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680644","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":156601,"name":"Rare genetic hepatic disease","classifications":[156]}],"children":[{"orpha":217371,"name":"Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins","type":"Disease"},{"orpha":466794,"name":"Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome","type":"Disease"},{"orpha":370088,"name":"Acute infantile liver failure-multisystemic involvement syndrome","type":"Disease"},{"orpha":731,"name":"Autosomal recessive polycystic kidney disease","type":"Disease"},{"orpha":397922,"name":"Ferro-cerebro-cutaneous syndrome","type":"Disease"},{"orpha":464724,"name":"Fever-associated acute infantile liver failure syndrome","type":"Disease"},{"orpha":541423,"name":"Growth delay-intellectual disability-hepatopathy syndrome","type":"Disease"},{"orpha":391366,"name":"Growth retardation-mild developmental delay-chronic hepatitis syndrome","type":"Disease"},{"orpha":2031,"name":"Hepatic fibrosis-renal cysts-intellectual disability syndrome","type":"Malformation syndrome"},{"orpha":726824,"name":"Hepatorenocardiac degenerative fibrosis","type":"Disease"},{"orpha":1454,"name":"Joubert syndrome with hepatic defect","type":"Clinical subtype"},{"orpha":3032,"name":"NPHP3-related Meckel-like syndrome","type":"Malformation syndrome"},{"orpha":294415,"name":"Renal-hepatic-pancreatic dysplasia","type":"Malformation syndrome"},{"orpha":440427,"name":"Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency","type":"Disease"},{"orpha":300293,"name":"Transient infantile hypertriglyceridemia and hepatosteatosis","type":"Disease"},{"orpha":84064,"name":"Trichohepatoenteric syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}