{"orpha":309136,"name":"Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes","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-309136/","orphanet_url":"https://www.orpha.net/en/disease/detail/309136","names":{"fr":{"name":"Anomalie mitochondriale par défaut d'assemblage ou de maturation des complexes de la chaîne respiratoire"},"de":{"name":"Mitochondriopathie durch Reifungsdefekt/Störung des Zusammenbaus des mitochondrialen Atmungsketten-Komplexes"},"es":{"name":"Enfermedad mitocondrial por un defecto de maduración de los complejos de la cadena respiratoria"},"it":{"name":"Disturbo mitocondriale da difetto nella maturazione dei complessi della catena respiratoria"},"nl":{"name":"Mitochondriale aandoening door defect van samenstelling of maturatie van ademhalingsketencomplexen"},"pt":{"name":"Doença mitocondrial devido a um defeito de maturação dos complexos da cadeia respiratória"},"pl":{"name":"Zaburzenia mitochondrialne z powodu defektu gromadzenia lub dojrzewania kompleksów łańcucha oddechowego"},"cs":{"name":"Mitochondriální porucha způsobená poruchou složení nebo maturace komplexů respiračního řetězce"},"uk":{"name":"Мітохондріальний розлад внаслідок дефекту збірки або дозрівання комплексів дихального ланцюга"},"zh":{"name":"呼吸链复合物装配或成熟缺陷所致线粒体病"},"tr":{"name":"Solunum zinciri komplekslerinin birleşmesi veya olgunlaşmasındaki bir defekte bağlı mitokondriyal bozukluk"}},"xrefs":[{"source":"MONDO","code":"17718","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681078","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":2443,"name":"Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies","classifications":[150,156]}],"children":[{"orpha":542585,"name":"Auditory neuropathy-optic atrophy syndrome","type":"Disease"},{"orpha":123,"name":"Björnstad syndrome","type":"Disease"},{"orpha":254843,"name":"Exercise intolerance with lactic acidosis","type":"Clinical group"},{"orpha":53693,"name":"GRACILE syndrome","type":"Disease"},{"orpha":352328,"name":"MEGDEL syndrome","type":"Disease"},{"orpha":289573,"name":"Multiple mitochondrial dysfunctions syndrome","type":"Clinical group"},{"orpha":543470,"name":"Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome","type":"Disease"},{"orpha":254902,"name":"Renal tubulopathy-encephalopathy-liver failure syndrome","type":"Disease"},{"orpha":397593,"name":"Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency","type":"Disease"},{"orpha":1194,"name":"TMEM70-related mitochondrial encephalo-cardio-myopathy","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}