{"orpha":254830,"name":"Mitochondrial substrate carrier disorder","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-254830/","orphanet_url":"https://www.orpha.net/en/disease/detail/254830","names":{"fr":{"name":"Anomalie des tranporteurs membranaires mitochondriaux"},"de":{"name":"Störungen der mitochondrialen Substrat-Transporter"},"es":{"name":"Trastorno de los transportadores de la membrana mitocondrial"},"it":{"name":"Difetto dei trasportatori della membrana mitocondriale"},"nl":{"name":"Stoornis van een mitochondriale substraattransporter"},"pt":{"name":"Doença do transportador de substrato mitocondrial"},"pl":{"name":"Zaburzenie nośnika substratu mitochondrialnego"},"cs":{"name":"Porucha nosiče mitochondriálního substrátu"},"uk":{"name":"Порушення мітохондріального субстратного переносника"},"zh":{"name":"线粒体基质载体障碍"},"tr":{"name":"Mitokondriyal substrat taşıyıcı bozukluğu"}},"xrefs":[{"source":"ICD-11","code":"5C53.30","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1118834100"},{"source":"MONDO","code":"0016801","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16801","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680716","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":254827,"name":"Mitochondrial membrane transport disorder","classifications":[150,156]}],"children":[{"orpha":255132,"name":"Adult-onset autosomal recessive sideroblastic anemia","type":"Disease"},{"orpha":91130,"name":"Cardiomyopathy-hypotonia-lactic acidosis syndrome","type":"Disease"},{"orpha":1369,"name":"Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome","type":"Disease"},{"orpha":353217,"name":"Epileptic encephalopathy with global cerebral demyelination","type":"Disease"},{"orpha":466784,"name":"Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}