5C53.2Y
其他特指的线粒体氧化磷酸化紊乱
Other specified disorders of mitochondrial oxidative phosphorylation
- 层级
- 6 级
索引词 可用于检索该条目的同义词与别名
- 其他特指的线粒体氧化磷酸化紊乱
- 线粒体DNA异常引起的线粒体氧化磷酸化失调
- OXPHOS线粒体DNA异常引起的[氧化磷酸化]疾病
- 线粒体DNA突变引起的呼吸链疾病
- 近端肾小管病变-糖尿病-小脑性共济失调
- 线粒体DNA的大规模单一缺失
- 线粒体DNA复制
- GRACILE[生长延迟-氨基酸尿症-胆汁淤积-铁超负荷-乳酸性酸中毒-早逝]综合征
- 生长延迟-氨基酸尿症-胆汁淤积-铁超负荷-乳酸性酸中毒-早逝
- 心脑病伴高氨血症
- ATP合酶缺乏，核编码
- 线粒体呼吸链复合物V缺乏症
- TMEM70缺乏引起的线粒体脑肌病
- TMEM70缺乏引起的ATP合酶缺乏症
- F1Fo ATP酶缺乏症
- 运动不耐受乳酸性酸中毒
- 具有可变表型的分离的氧化磷酸化缺陷，不可归类在他处者
- 线粒体呼吸链复合物I结构亚基基因缺陷
- 线粒体呼吸链复合物I组装基因缺陷
- 线粒体呼吸链复合物II结构亚基基因缺陷
- 线粒体呼吸链复合物II组装基因缺陷
- 线粒体呼吸链复合物III结构亚基基因缺陷
- 线粒体呼吸链复合物III组装基因缺陷
- 线粒体呼吸链复合物IV结构亚基基因缺陷
- 线粒体呼吸链复合物IV组装基因缺陷
- ATP合成酶结构亚基基因缺陷
- 线粒体呼吸链复合物V结构亚基基因缺陷
- ATP合成酶组装基因缺陷
- 线粒体呼吸链复合物V组装基因缺陷
- 肾小管病变-脑病-肝功能衰竭
- 耳聋-视神经萎缩-痴呆
- 延森氏综合征
- 詹森综合征
- FASTKD2-相关的婴儿线粒体脑肌病
- 琥珀酸血症
- Zellweger样综合征，不伴过氧化物酶体异常
- Ahn-Lerman-Sagie综合征
- 赵苇格氏症
- 孤立的线粒体呼吸链复合体I缺乏
- NADH-CoQ[烟酰胺-腺嘌呤-二核苷酸辅酶Q]还原酶缺乏症
- 烟酰胺-腺嘌呤-二核苷酸辅酶Q还原酶缺乏
- 泛醌缺乏症
- 孤立的线粒体呼吸链复合物II缺乏症
- 琥珀酸辅酶Q还原酶缺乏症
- 琥珀酸-辅酶Q还原酶缺乏症
- 孤立的线粒体呼吸链复合物III缺乏症
- 辅酶Q细胞色素C还原酶缺乏症
- 泛醌脱氢酶缺乏症
- 孤立的线粒体呼吸链复合体IV缺乏症
- 细胞色素C氧化酶缺乏症
- 细胞色素C氧化酶缺乏引起的共济失调-脑白质营养不良-肾小管病变
- 胰腺功能不全-贫血-骨质增生
英文词条（50）
- Other specified disorders of mitochondrial oxidative phosphorylation
- Mitochondrial oxidative phosphorylation disorders due to mitochondrial DNA anomalies
- OXPHOS - [oxidative phosphorylation] diseases due to mtDNA anomalies
- Respiratory chain disorders caused by mutations of mtDNA
- Proximal tubulopathy - diabetes mellitus - cerebellar ataxia
- Large-scale single deletions of mitochondrial DNA
- Duplications of mitochondrial DNA
- GRACILE - [Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death] syndrome
- Growth delay - aminoaciduria - cholestasis - iron overload - lactic acidosis - early death
- Cardioencephalopathy with hyperammonaemia
- ATP synthase deficiency caused by TMEM70 deficiency
- ATP synthase deficiency, nuclear-encoded
- F1Fo ATPase deficiency
- Mitochondrial encephalocardiomyopathy due to TMEM70 deficiency
- Mitochondrial respiratory chain complex V deficiency
- Exercise intolerance with lactic acidosis
- Isolated oxidative phosphorylation defects with variable phenotype, not elsewhere classified
- Mitochondrial respiratory chain complex I structural subunit gene defect
- Mitochondrial respiratory chain complex I assembly gene defect
- Mitochondrial respiratory chain complex II structural subunit gene defect
- Mitochondrial respiratory chain complex II assembly gene defect
- Mitochondrial respiratory chain complex III structural subunit gene defect
- Mitochondrial respiratory chain complex III assembly gene defect
- Mitochondrial respiratory chain complex IV structural subunit gene defect
- Mitochondrial respiratory chain complex IV assembly gene defect
- ATP synthase structural subunit gene defect
- Mitochondrial respiratory chain complex V structural subunit gene defect
- ATP synthase assembly gene defect
- Mitochondrial respiratory chain complex V assembly gene defect
- Renal tubulopathy - encephalopathy - liver failure
- Deafness - opticoacoustic nerve atrophy - dementia
- Jensen syndrome
- FASTKD2-related infantile mitochondrial encephalomyopathy
- Succinic acidaemia
- Zellweger-like syndrome without peroxisomal anomalies
- Ahn-Lerman-Sagie syndrome
- Isolated mitochondrial respiratory chain complex I deficiency
- NADH-CoQ - [Nicotinamide-adenine-dinucleotide coenzyme Q] reductase deficiency
- Nicotinamide-adenine-dinucleotide coenzyme Q reductase deficiency
- Ubiquinone deficiency
- Isolated mitochondrial respiratory chain complex II deficiency
- Succinate coenzyme Q reductase deficiency
- Succinate-CoQ reductase deficiency
- Isolated mitochondrial respiratory chain complex III deficiency
- Coenzyme Q cytochrome C reductase deficiency
- Ubiquinone dehydrogenase deficiency
- Isolated mitochondrial respiratory chain complex IV deficiency
- Cytochrome C oxidase deficiency
- Ataxia - leukodystrophy - tubulopathy, due to cytochrome C oxidase deficiency
- Pancreatic insufficiency - anaemia - hyperostosis
后组配轴 Postcoordination
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