Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0003287	Abnormality of mitochondrial metabolism	0	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0003232	Mitochondrial malic enzyme reduced	1	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0003514	Deficiency or absence of cytochrome b(-245)	1	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0008265	Mitochondrial lysine transport defect	1	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	1	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0030059	Mitochondrial depletion	1	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0200125	Mitochondrial respiratory chain defects	1	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0008316	Abnormal mitochondria in muscle tissue	1	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0011922	Abnormal activity of mitochondrial respiratory chain	1	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	1	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0008306	Abnormal iron deposition in mitochondria	1	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0003234	Decreased plasma carnitine	1	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	1	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	1	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0011922	Abnormal activity of mitochondrial respiratory chain	1	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	1	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0008306	Abnormal iron deposition in mitochondria	1	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0003234	Decreased plasma carnitine	1	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0003514	Deficiency or absence of cytochrome b(-245)	1	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0003232	Mitochondrial malic enzyme reduced	1	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0008265	Mitochondrial lysine transport defect	1	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	1	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0030059	Mitochondrial depletion	1	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0200125	Mitochondrial respiratory chain defects	1	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0008316	Abnormal mitochondria in muscle tissue	1	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0003234	Decreased plasma carnitine	1	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	1	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0011922	Abnormal activity of mitochondrial respiratory chain	1	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	1	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0008306	Abnormal iron deposition in mitochondria	1	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0003514	Deficiency or absence of cytochrome b(-245)	1	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0003232	Mitochondrial malic enzyme reduced	1	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	1	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0008265	Mitochondrial lysine transport defect	1	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0008316	Abnormal mitochondria in muscle tissue	1	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0030059	Mitochondrial depletion	1	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0200125	Mitochondrial respiratory chain defects	1	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0008316	Abnormal mitochondria in muscle tissue	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0030059	Mitochondrial depletion	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0200125	Mitochondrial respiratory chain defects	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0008306	Abnormal iron deposition in mitochondria	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0003234	Decreased plasma carnitine	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0011922	Abnormal activity of mitochondrial respiratory chain	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0003514	Deficiency or absence of cytochrome b(-245)	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0003232	Mitochondrial malic enzyme reduced	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0008265	Mitochondrial lysine transport defect	1	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0008265	Mitochondrial lysine transport defect	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0200125	Mitochondrial respiratory chain defects	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0008316	Abnormal mitochondria in muscle tissue	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0030059	Mitochondrial depletion	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0011922	Abnormal activity of mitochondrial respiratory chain	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0008306	Abnormal iron deposition in mitochondria	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0003234	Decreased plasma carnitine	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0003232	Mitochondrial malic enzyme reduced	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0003514	Deficiency or absence of cytochrome b(-245)	1	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0003514	Deficiency or absence of cytochrome b(-245)	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0003232	Mitochondrial malic enzyme reduced	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0008265	Mitochondrial lysine transport defect	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0030059	Mitochondrial depletion	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0200125	Mitochondrial respiratory chain defects	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0008316	Abnormal mitochondria in muscle tissue	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0011922	Abnormal activity of mitochondrial respiratory chain	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0008306	Abnormal iron deposition in mitochondria	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0003234	Decreased plasma carnitine	1	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0003234	Decreased plasma carnitine	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0011922	Abnormal activity of mitochondrial respiratory chain	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0008306	Abnormal iron deposition in mitochondria	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0003514	Deficiency or absence of cytochrome b(-245)	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0003232	Mitochondrial malic enzyme reduced	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0008265	Mitochondrial lysine transport defect	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0030059	Mitochondrial depletion	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0200125	Mitochondrial respiratory chain defects	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0008316	Abnormal mitochondria in muscle tissue	1	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0008316	Abnormal mitochondria in muscle tissue	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0030059	Mitochondrial depletion	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0200125	Mitochondrial respiratory chain defects	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0008306	Abnormal iron deposition in mitochondria	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0003234	Decreased plasma carnitine	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0011922	Abnormal activity of mitochondrial respiratory chain	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0003514	Deficiency or absence of cytochrome b(-245)	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0003232	Mitochondrial malic enzyme reduced	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0008265	Mitochondrial lysine transport defect	1	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0008265	Mitochondrial lysine transport defect	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0200125	Mitochondrial respiratory chain defects	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0008316	Abnormal mitochondria in muscle tissue	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0030059	Mitochondrial depletion	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0008306	Abnormal iron deposition in mitochondria	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0003234	Decreased plasma carnitine	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0011922	Abnormal activity of mitochondrial respiratory chain	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0003514	Deficiency or absence of cytochrome b(-245)	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0003232	Mitochondrial malic enzyme reduced	1	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0003514	Deficiency or absence of cytochrome b(-245)	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0003232	Mitochondrial malic enzyme reduced	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0008265	Mitochondrial lysine transport defect	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0030059	Mitochondrial depletion	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0200125	Mitochondrial respiratory chain defects	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0008316	Abnormal mitochondria in muscle tissue	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0011922	Abnormal activity of mitochondrial respiratory chain	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0008306	Abnormal iron deposition in mitochondria	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0003234	Decreased plasma carnitine	1	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0003234	Decreased plasma carnitine	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0011922	Abnormal activity of mitochondrial respiratory chain	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0008306	Abnormal iron deposition in mitochondria	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0003514	Deficiency or absence of cytochrome b(-245)	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0003232	Mitochondrial malic enzyme reduced	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0008265	Mitochondrial lysine transport defect	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0030059	Mitochondrial depletion	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0200125	Mitochondrial respiratory chain defects	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0008316	Abnormal mitochondria in muscle tissue	1	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0008316	Abnormal mitochondria in muscle tissue	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0030059	Mitochondrial depletion	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0200125	Mitochondrial respiratory chain defects	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0008306	Abnormal iron deposition in mitochondria	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0003234	Decreased plasma carnitine	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0011922	Abnormal activity of mitochondrial respiratory chain	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0003514	Deficiency or absence of cytochrome b(-245)	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0003232	Mitochondrial malic enzyme reduced	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0008265	Mitochondrial lysine transport defect	1	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0008265	Mitochondrial lysine transport defect	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0200125	Mitochondrial respiratory chain defects	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0008316	Abnormal mitochondria in muscle tissue	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0030059	Mitochondrial depletion	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0008306	Abnormal iron deposition in mitochondria	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0003234	Decreased plasma carnitine	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0011922	Abnormal activity of mitochondrial respiratory chain	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0003514	Deficiency or absence of cytochrome b(-245)	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0003232	Mitochondrial malic enzyme reduced	1	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0003232	Mitochondrial malic enzyme reduced	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0003514	Deficiency or absence of cytochrome b(-245)	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0008265	Mitochondrial lysine transport defect	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0030059	Mitochondrial depletion	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0200125	Mitochondrial respiratory chain defects	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0008316	Abnormal mitochondria in muscle tissue	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0011922	Abnormal activity of mitochondrial respiratory chain	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0008306	Abnormal iron deposition in mitochondria	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0003234	Decreased plasma carnitine	1	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0003234	Decreased plasma carnitine	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0011922	Abnormal activity of mitochondrial respiratory chain	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0008306	Abnormal iron deposition in mitochondria	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0003514	Deficiency or absence of cytochrome b(-245)	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0003232	Mitochondrial malic enzyme reduced	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0008265	Mitochondrial lysine transport defect	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0030059	Mitochondrial depletion	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0200125	Mitochondrial respiratory chain defects	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0008316	Abnormal mitochondria in muscle tissue	1	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0008316	Abnormal mitochondria in muscle tissue	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0030059	Mitochondrial depletion	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0200125	Mitochondrial respiratory chain defects	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0008306	Abnormal iron deposition in mitochondria	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0003234	Decreased plasma carnitine	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0011922	Abnormal activity of mitochondrial respiratory chain	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0003514	Deficiency or absence of cytochrome b(-245)	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0003232	Mitochondrial malic enzyme reduced	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0008265	Mitochondrial lysine transport defect	1	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0008265	Mitochondrial lysine transport defect	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0008316	Abnormal mitochondria in muscle tissue	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0030059	Mitochondrial depletion	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0200125	Mitochondrial respiratory chain defects	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0008306	Abnormal iron deposition in mitochondria	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0003234	Decreased plasma carnitine	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0011922	Abnormal activity of mitochondrial respiratory chain	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0003514	Deficiency or absence of cytochrome b(-245)	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0003232	Mitochondrial malic enzyme reduced	1	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0040015	Increased activity of mitochondrial respiratory chain	2	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0011936	Decreased plasma total carnitine	2	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0008972	Decreased activity of mitochondrial respiratory chain	2	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0008315	Decreased plasma free carnitine	2	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0040015	Increased activity of mitochondrial respiratory chain	2	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0011936	Decreased plasma total carnitine	2	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0008315	Decreased plasma free carnitine	2	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0008972	Decreased activity of mitochondrial respiratory chain	2	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0040015	Increased activity of mitochondrial respiratory chain	2	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0011936	Decreased plasma total carnitine	2	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0008315	Decreased plasma free carnitine	2	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0008972	Decreased activity of mitochondrial respiratory chain	2	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0008315	Decreased plasma free carnitine	2	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0008972	Decreased activity of mitochondrial respiratory chain	2	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0040015	Increased activity of mitochondrial respiratory chain	2	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0011936	Decreased plasma total carnitine	2	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0011936	Decreased plasma total carnitine	2	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0008972	Decreased activity of mitochondrial respiratory chain	2	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0008315	Decreased plasma free carnitine	2	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0040015	Increased activity of mitochondrial respiratory chain	2	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0040015	Increased activity of mitochondrial respiratory chain	2	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0011936	Decreased plasma total carnitine	2	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0008972	Decreased activity of mitochondrial respiratory chain	2	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0008315	Decreased plasma free carnitine	2	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0040015	Increased activity of mitochondrial respiratory chain	2	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0011936	Decreased plasma total carnitine	2	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0008315	Decreased plasma free carnitine	2	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0008972	Decreased activity of mitochondrial respiratory chain	2	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0008315	Decreased plasma free carnitine	2	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0008972	Decreased activity of mitochondrial respiratory chain	2	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0040015	Increased activity of mitochondrial respiratory chain	2	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0011936	Decreased plasma total carnitine	2	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0011936	Decreased plasma total carnitine	2	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0008972	Decreased activity of mitochondrial respiratory chain	2	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0008315	Decreased plasma free carnitine	2	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0040015	Increased activity of mitochondrial respiratory chain	2	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0040015	Increased activity of mitochondrial respiratory chain	2	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0011936	Decreased plasma total carnitine	2	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0008972	Decreased activity of mitochondrial respiratory chain	2	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0008315	Decreased plasma free carnitine	2	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0040015	Increased activity of mitochondrial respiratory chain	2	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0011936	Decreased plasma total carnitine	2	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0008315	Decreased plasma free carnitine	2	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0008972	Decreased activity of mitochondrial respiratory chain	2	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0008315	Decreased plasma free carnitine	2	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0008972	Decreased activity of mitochondrial respiratory chain	2	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0040015	Increased activity of mitochondrial respiratory chain	2	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0011936	Decreased plasma total carnitine	2	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0011936	Decreased plasma total carnitine	2	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0008315	Decreased plasma free carnitine	2	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0008972	Decreased activity of mitochondrial respiratory chain	2	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0040015	Increased activity of mitochondrial respiratory chain	2	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0040015	Increased activity of mitochondrial respiratory chain	2	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0011936	Decreased plasma total carnitine	2	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0008972	Decreased activity of mitochondrial respiratory chain	2	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0008315	Decreased plasma free carnitine	2	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0040015	Increased activity of mitochondrial respiratory chain	2	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0011936	Decreased plasma total carnitine	2	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0008315	Decreased plasma free carnitine	2	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0008972	Decreased activity of mitochondrial respiratory chain	2	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0008315	Decreased plasma free carnitine	2	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0008972	Decreased activity of mitochondrial respiratory chain	2	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0040015	Increased activity of mitochondrial respiratory chain	2	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0011936	Decreased plasma total carnitine	2	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0011936	Decreased plasma total carnitine	2	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0008315	Decreased plasma free carnitine	2	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0008972	Decreased activity of mitochondrial respiratory chain	2	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0040015	Increased activity of mitochondrial respiratory chain	2	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0011923	Decreased activity of mitochondrial complex I	3	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	3	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0008347	Decreased activity of mitochondrial complex IV	3	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0011924	Decreased activity of mitochondrial complex III	3	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0008314	Decreased activity of mitochondrial complex II	3	AK2 CL E G H	204	33355				ORPHA	1	178	362	103020
HP:0003287	HP:0008314	Decreased activity of mitochondrial complex II	3	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0011923	Decreased activity of mitochondrial complex I	3	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	3	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0008347	Decreased activity of mitochondrial complex IV	3	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0011924	Decreased activity of mitochondrial complex III	3	DNMT1 CL E G H	1786	314404				ORPHA	1	995	2976	126375
HP:0003287	HP:0008314	Decreased activity of mitochondrial complex II	3	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0011923	Decreased activity of mitochondrial complex I	3	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	3	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0008347	Decreased activity of mitochondrial complex IV	3	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0011924	Decreased activity of mitochondrial complex III	3	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0003287	HP:0011924	Decreased activity of mitochondrial complex III	3	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0008314	Decreased activity of mitochondrial complex II	3	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0011923	Decreased activity of mitochondrial complex I	3	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0008347	Decreased activity of mitochondrial complex IV	3	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	3	MT-CO1 CL E G H	4512	550				ORPHA	1		7419	516030
HP:0003287	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	3	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0008347	Decreased activity of mitochondrial complex IV	3	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0011924	Decreased activity of mitochondrial complex III	3	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0008314	Decreased activity of mitochondrial complex II	3	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0011923	Decreased activity of mitochondrial complex I	3	MT-CO2 CL E G H	4513	550				ORPHA	1		7421	516040
HP:0003287	HP:0011923	Decreased activity of mitochondrial complex I	3	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	3	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0008347	Decreased activity of mitochondrial complex IV	3	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0011924	Decreased activity of mitochondrial complex III	3	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0008314	Decreased activity of mitochondrial complex II	3	MT-CO3 CL E G H	4514	550				ORPHA	1		7422	516050
HP:0003287	HP:0008314	Decreased activity of mitochondrial complex II	3	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0011923	Decreased activity of mitochondrial complex I	3	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	3	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0008347	Decreased activity of mitochondrial complex IV	3	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0011924	Decreased activity of mitochondrial complex III	3	MT-ND1 CL E G H	4535	550				ORPHA	1		7455	516000
HP:0003287	HP:0011924	Decreased activity of mitochondrial complex III	3	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0008314	Decreased activity of mitochondrial complex II	3	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0011923	Decreased activity of mitochondrial complex I	3	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0008347	Decreased activity of mitochondrial complex IV	3	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	3	MT-ND4 CL E G H	4538	550				ORPHA	1		7459	516003
HP:0003287	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	3	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0008347	Decreased activity of mitochondrial complex IV	3	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0011924	Decreased activity of mitochondrial complex III	3	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0008314	Decreased activity of mitochondrial complex II	3	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0011923	Decreased activity of mitochondrial complex I	3	MT-ND5 CL E G H	4540	550				ORPHA	1		7461	516005
HP:0003287	HP:0011923	Decreased activity of mitochondrial complex I	3	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	3	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0008347	Decreased activity of mitochondrial complex IV	3	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0011924	Decreased activity of mitochondrial complex III	3	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0008314	Decreased activity of mitochondrial complex II	3	MT-ND6 CL E G H	4541	550				ORPHA	1		7462	516006
HP:0003287	HP:0008314	Decreased activity of mitochondrial complex II	3	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0011923	Decreased activity of mitochondrial complex I	3	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	3	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0008347	Decreased activity of mitochondrial complex IV	3	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0011924	Decreased activity of mitochondrial complex III	3	MT-TF CL E G H	4558	550				ORPHA	1		7481	590070
HP:0003287	HP:0011924	Decreased activity of mitochondrial complex III	3	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0008314	Decreased activity of mitochondrial complex II	3	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0011923	Decreased activity of mitochondrial complex I	3	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0008347	Decreased activity of mitochondrial complex IV	3	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	3	MT-TH CL E G H	4564	550				ORPHA	1		7487	590040
HP:0003287	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	3	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0008347	Decreased activity of mitochondrial complex IV	3	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0011924	Decreased activity of mitochondrial complex III	3	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0008314	Decreased activity of mitochondrial complex II	3	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0011923	Decreased activity of mitochondrial complex I	3	MT-TL1 CL E G H	4567	550				ORPHA	1		7490	590050
HP:0003287	HP:0011923	Decreased activity of mitochondrial complex I	3	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	3	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0008347	Decreased activity of mitochondrial complex IV	3	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0011924	Decreased activity of mitochondrial complex III	3	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0008314	Decreased activity of mitochondrial complex II	3	MT-TQ CL E G H	4572	550				ORPHA	1		7495	590030
HP:0003287	HP:0008314	Decreased activity of mitochondrial complex II	3	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0011923	Decreased activity of mitochondrial complex I	3	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	3	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0008347	Decreased activity of mitochondrial complex IV	3	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0011924	Decreased activity of mitochondrial complex III	3	MT-TS1 CL E G H	4574	550				ORPHA	1		7497	590080
HP:0003287	HP:0011924	Decreased activity of mitochondrial complex III	3	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0008314	Decreased activity of mitochondrial complex II	3	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0011923	Decreased activity of mitochondrial complex I	3	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	3	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0008347	Decreased activity of mitochondrial complex IV	3	MT-TS2 CL E G H	4575	550				ORPHA	1		7498	590085
HP:0003287	HP:0008347	Decreased activity of mitochondrial complex IV	3	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	3	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0011924	Decreased activity of mitochondrial complex III	3	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0008314	Decreased activity of mitochondrial complex II	3	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HP:0003287	HP:0011923	Decreased activity of mitochondrial complex I	3	MT-TW CL E G H	4578	550				ORPHA	1		7501	590095
HPO disease - gene - phenotype less frequent non-typical associations: