{"orpha":497623,"name":"C12ORF65-related combined oxidative phosphorylation defect","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["C12ORF65-related COXPD"],"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-497623/","orphanet_url":"https://www.orpha.net/en/disease/detail/497623","names":{"fr":{"name":"Déficit combiné de la phosphorylation oxydative associé à C12ORF65","synonyms":["COXPD associé à C12ORF65"]},"de":{"name":"C12ORF65-assoziierter kombinierter Defekt der oxidativen Phosphorylierung"},"es":{"name":"Deficiencia combinada de la fosforilación oxidativa asociado a C12ORF65","synonyms":["COXPD asociada a C12ORF65"]},"it":{"name":"Difetto combinato della fosforilazione ossidativa correlato a C12ORF65"},"nl":{"name":"C12ORF65-gerelateerde gecombineerde oxidatieve fosforylatiedeficiëntie","synonyms":["C12ORF65-gerelateerde COXPD"]},"pt":{"name":"Defeito de fosforilação oxidativa combinado C12ORF65-relacionado"},"pl":{"name":"Złożony defekt fosforylacji oksydacyjnej związany z C12ORF65","synonyms":["C12ORF65-related COXPD"]},"cs":{"name":"C12ORF65-vázaná kombinovaná porucha oxidativní fosforylace","synonyms":["C12ORF65-related COXPD","C12ORF65-vázaná COXPD"]},"uk":{"name":"Комбінований дефект окисного фосфорилювання, повязаний з C12ORF65","synonyms":["C12ORF65-асоційоване ХОЗЛ"]},"zh":{"name":"C12ORF65相关的联合氧化磷酸化缺陷","synonyms":["C12ORF65-related COXPD"]},"tr":{"name":"C12ORF65 -ilişkili birleşik oksidatif fosforilasyon defekti","synonyms":["C12ORF65-ilişkili COXPD"]}},"xrefs":[{"source":"UMLS","code":"C5680089","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":35696,"name":"Mitochondrial disorder due to a defect in mitochondrial protein synthesis","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]}],"children":[{"orpha":320375,"name":"Autosomal recessive spastic paraplegia type 55","type":"Disease"},{"orpha":254930,"name":"Combined oxidative phosphorylation defect type 7","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27858754[PMID]"},{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"27858754[PMID]_28091420[PMID]_28804760[PMID]"}],"phenotypes":null}