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:0012103	HP:0012103	Abnormality of the mitochondrion	0	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0003514	Deficiency or absence of cytochrome b(-245)	2	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0003232	Mitochondrial malic enzyme reduced	2	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	2	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0008265	Mitochondrial lysine transport defect	2	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0012102	Abnormal mitochondrial number	2	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0030059	Mitochondrial depletion	2	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0008306	Abnormal iron deposition in mitochondria	2	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0003234	Decreased plasma carnitine	2	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0012087	Abnormal mitochondrial shape	2	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	2	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0012102	Abnormal mitochondrial number	2	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0030059	Mitochondrial depletion	2	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	2	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0008306	Abnormal iron deposition in mitochondria	2	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0003234	Decreased plasma carnitine	2	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0012087	Abnormal mitochondrial shape	2	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0003232	Mitochondrial malic enzyme reduced	2	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0003514	Deficiency or absence of cytochrome b(-245)	2	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	2	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0008265	Mitochondrial lysine transport defect	2	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0003232	Mitochondrial malic enzyme reduced	2	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0003514	Deficiency or absence of cytochrome b(-245)	2	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	2	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0008265	Mitochondrial lysine transport defect	2	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0012102	Abnormal mitochondrial number	2	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0030059	Mitochondrial depletion	2	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	2	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0008306	Abnormal iron deposition in mitochondria	2	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0003234	Decreased plasma carnitine	2	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0012087	Abnormal mitochondrial shape	2	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	2	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0008265	Mitochondrial lysine transport defect	2	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0012102	Abnormal mitochondrial number	2	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0030059	Mitochondrial depletion	2	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0008306	Abnormal iron deposition in mitochondria	2	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0003234	Decreased plasma carnitine	2	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0012087	Abnormal mitochondrial shape	2	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	2	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0003514	Deficiency or absence of cytochrome b(-245)	2	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0003232	Mitochondrial malic enzyme reduced	2	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0008306	Abnormal iron deposition in mitochondria	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0003234	Decreased plasma carnitine	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0012087	Abnormal mitochondrial shape	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0003514	Deficiency or absence of cytochrome b(-245)	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0003232	Mitochondrial malic enzyme reduced	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0008265	Mitochondrial lysine transport defect	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0012102	Abnormal mitochondrial number	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0030059	Mitochondrial depletion	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0003514	Deficiency or absence of cytochrome b(-245)	2	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0003232	Mitochondrial malic enzyme reduced	2	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0008265	Mitochondrial lysine transport defect	2	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	2	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0030059	Mitochondrial depletion	2	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0012102	Abnormal mitochondrial number	2	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0012087	Abnormal mitochondrial shape	2	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	2	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0008306	Abnormal iron deposition in mitochondria	2	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0003234	Decreased plasma carnitine	2	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	2	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0008306	Abnormal iron deposition in mitochondria	2	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0003234	Decreased plasma carnitine	2	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0012087	Abnormal mitochondrial shape	2	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0003232	Mitochondrial malic enzyme reduced	2	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0003514	Deficiency or absence of cytochrome b(-245)	2	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	2	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0008265	Mitochondrial lysine transport defect	2	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0012102	Abnormal mitochondrial number	2	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0030059	Mitochondrial depletion	2	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0030059	Mitochondrial depletion	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0012102	Abnormal mitochondrial number	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0012087	Abnormal mitochondrial shape	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0008306	Abnormal iron deposition in mitochondria	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0003234	Decreased plasma carnitine	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0003514	Deficiency or absence of cytochrome b(-245)	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0003232	Mitochondrial malic enzyme reduced	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0008265	Mitochondrial lysine transport defect	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	2	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0012087	Abnormal mitochondrial shape	2	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	2	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0008306	Abnormal iron deposition in mitochondria	2	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0003234	Decreased plasma carnitine	2	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0003514	Deficiency or absence of cytochrome b(-245)	2	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0003232	Mitochondrial malic enzyme reduced	2	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0008265	Mitochondrial lysine transport defect	2	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	2	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0030059	Mitochondrial depletion	2	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0012102	Abnormal mitochondrial number	2	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0012102	Abnormal mitochondrial number	2	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0030059	Mitochondrial depletion	2	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0008306	Abnormal iron deposition in mitochondria	2	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0003234	Decreased plasma carnitine	2	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0012087	Abnormal mitochondrial shape	2	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	2	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0003514	Deficiency or absence of cytochrome b(-245)	2	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0003232	Mitochondrial malic enzyme reduced	2	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	2	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0008265	Mitochondrial lysine transport defect	2	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0008265	Mitochondrial lysine transport defect	2	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	2	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0030059	Mitochondrial depletion	2	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0012102	Abnormal mitochondrial number	2	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0012087	Abnormal mitochondrial shape	2	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	2	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0008306	Abnormal iron deposition in mitochondria	2	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0003234	Decreased plasma carnitine	2	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0003514	Deficiency or absence of cytochrome b(-245)	2	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0003232	Mitochondrial malic enzyme reduced	2	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0008265	Mitochondrial lysine transport defect	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0012102	Abnormal mitochondrial number	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0030059	Mitochondrial depletion	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0008306	Abnormal iron deposition in mitochondria	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0003234	Decreased plasma carnitine	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0012087	Abnormal mitochondrial shape	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0003232	Mitochondrial malic enzyme reduced	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0003514	Deficiency or absence of cytochrome b(-245)	2	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0040015	Increased activity of mitochondrial respiratory chain	3	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0040014	Increased mitochondrial number	3	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0040013	Decreased mitochondrial number	3	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0011936	Decreased plasma total carnitine	3	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0030774	Mitochondrial swelling	3	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0008315	Decreased plasma free carnitine	3	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0033686	Mitochondrial hypertrophy	3	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0008972	Decreased activity of mitochondrial respiratory chain	3	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0008972	Decreased activity of mitochondrial respiratory chain	3	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0008315	Decreased plasma free carnitine	3	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0033686	Mitochondrial hypertrophy	3	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0040015	Increased activity of mitochondrial respiratory chain	3	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0040014	Increased mitochondrial number	3	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0040013	Decreased mitochondrial number	3	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0011936	Decreased plasma total carnitine	3	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0030774	Mitochondrial swelling	3	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0040015	Increased activity of mitochondrial respiratory chain	3	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0040014	Increased mitochondrial number	3	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0040013	Decreased mitochondrial number	3	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0011936	Decreased plasma total carnitine	3	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0030774	Mitochondrial swelling	3	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0008972	Decreased activity of mitochondrial respiratory chain	3	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0008315	Decreased plasma free carnitine	3	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0033686	Mitochondrial hypertrophy	3	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0040013	Decreased mitochondrial number	3	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0011936	Decreased plasma total carnitine	3	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0030774	Mitochondrial swelling	3	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0008315	Decreased plasma free carnitine	3	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0033686	Mitochondrial hypertrophy	3	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0008972	Decreased activity of mitochondrial respiratory chain	3	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0040015	Increased activity of mitochondrial respiratory chain	3	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0040014	Increased mitochondrial number	3	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0040015	Increased activity of mitochondrial respiratory chain	3	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0040014	Increased mitochondrial number	3	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0040013	Decreased mitochondrial number	3	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0011936	Decreased plasma total carnitine	3	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0030774	Mitochondrial swelling	3	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0008315	Decreased plasma free carnitine	3	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0033686	Mitochondrial hypertrophy	3	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0008972	Decreased activity of mitochondrial respiratory chain	3	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0040014	Increased mitochondrial number	3	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0040015	Increased activity of mitochondrial respiratory chain	3	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0011936	Decreased plasma total carnitine	3	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0030774	Mitochondrial swelling	3	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0040013	Decreased mitochondrial number	3	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0008315	Decreased plasma free carnitine	3	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0033686	Mitochondrial hypertrophy	3	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0008972	Decreased activity of mitochondrial respiratory chain	3	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0040015	Increased activity of mitochondrial respiratory chain	3	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0040014	Increased mitochondrial number	3	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0040013	Decreased mitochondrial number	3	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0011936	Decreased plasma total carnitine	3	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0030774	Mitochondrial swelling	3	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0008972	Decreased activity of mitochondrial respiratory chain	3	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0008315	Decreased plasma free carnitine	3	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0033686	Mitochondrial hypertrophy	3	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0008315	Decreased plasma free carnitine	3	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0033686	Mitochondrial hypertrophy	3	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0008972	Decreased activity of mitochondrial respiratory chain	3	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0040014	Increased mitochondrial number	3	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0040015	Increased activity of mitochondrial respiratory chain	3	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0040013	Decreased mitochondrial number	3	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0011936	Decreased plasma total carnitine	3	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0030774	Mitochondrial swelling	3	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0040014	Increased mitochondrial number	3	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0040015	Increased activity of mitochondrial respiratory chain	3	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0011936	Decreased plasma total carnitine	3	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0030774	Mitochondrial swelling	3	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0040013	Decreased mitochondrial number	3	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0008315	Decreased plasma free carnitine	3	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0033686	Mitochondrial hypertrophy	3	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0008972	Decreased activity of mitochondrial respiratory chain	3	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0008315	Decreased plasma free carnitine	3	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0033686	Mitochondrial hypertrophy	3	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0008972	Decreased activity of mitochondrial respiratory chain	3	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0040015	Increased activity of mitochondrial respiratory chain	3	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0040014	Increased mitochondrial number	3	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0040013	Decreased mitochondrial number	3	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0011936	Decreased plasma total carnitine	3	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0030774	Mitochondrial swelling	3	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0011936	Decreased plasma total carnitine	3	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0030774	Mitochondrial swelling	3	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0040013	Decreased mitochondrial number	3	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0008315	Decreased plasma free carnitine	3	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0033686	Mitochondrial hypertrophy	3	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0008972	Decreased activity of mitochondrial respiratory chain	3	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0040014	Increased mitochondrial number	3	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0040015	Increased activity of mitochondrial respiratory chain	3	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0040013	Decreased mitochondrial number	3	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0011936	Decreased plasma total carnitine	3	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0030774	Mitochondrial swelling	3	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0008972	Decreased activity of mitochondrial respiratory chain	3	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0008315	Decreased plasma free carnitine	3	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0033686	Mitochondrial hypertrophy	3	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0040015	Increased activity of mitochondrial respiratory chain	3	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0040014	Increased mitochondrial number	3	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0011923	Decreased activity of mitochondrial complex I	4	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	4	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0008347	Decreased activity of mitochondrial complex IV	4	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0011924	Decreased activity of mitochondrial complex III	4	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0008314	Decreased activity of mitochondrial complex II	4	GNE CL E G H	10020	3166	Ladda Zonana Ramer syndrome			ORPHA	1	783	23657	603824
HP:0012103	HP:0011924	Decreased activity of mitochondrial complex III	4	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0008314	Decreased activity of mitochondrial complex II	4	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0011923	Decreased activity of mitochondrial complex I	4	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	4	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0008347	Decreased activity of mitochondrial complex IV	4	KCNJ10 CL E G H	3766	199343				ORPHA	1	335	6256	602208
HP:0012103	HP:0011923	Decreased activity of mitochondrial complex I	4	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	4	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0008347	Decreased activity of mitochondrial complex IV	4	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0011924	Decreased activity of mitochondrial complex III	4	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0008314	Decreased activity of mitochondrial complex II	4	PEX5 CL E G H	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	214110	C1859228	OMIM	1	689	9719	600414
HP:0012103	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	4	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0008347	Decreased activity of mitochondrial complex IV	4	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0011924	Decreased activity of mitochondrial complex III	4	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0008314	Decreased activity of mitochondrial complex II	4	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0011923	Decreased activity of mitochondrial complex I	4	POLG CL E G H	5428	254892				ORPHA	1	1917	9179	174763
HP:0012103	HP:0008314	Decreased activity of mitochondrial complex II	4	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0011923	Decreased activity of mitochondrial complex I	4	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	4	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0008347	Decreased activity of mitochondrial complex IV	4	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0011924	Decreased activity of mitochondrial complex III	4	POLG CL E G H	5428	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	1917	9179	174763
HP:0012103	HP:0011923	Decreased activity of mitochondrial complex I	4	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	4	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0008347	Decreased activity of mitochondrial complex IV	4	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0011924	Decreased activity of mitochondrial complex III	4	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0008314	Decreased activity of mitochondrial complex II	4	POLG2 CL E G H	11232	254892				ORPHA	1	240	9180	604983
HP:0012103	HP:0008314	Decreased activity of mitochondrial complex II	4	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0011923	Decreased activity of mitochondrial complex I	4	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	4	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0008347	Decreased activity of mitochondrial complex IV	4	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0011924	Decreased activity of mitochondrial complex III	4	RRM2B CL E G H	50484	254892				ORPHA	1	293	17296	604712
HP:0012103	HP:0011924	Decreased activity of mitochondrial complex III	4	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0008314	Decreased activity of mitochondrial complex II	4	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0011923	Decreased activity of mitochondrial complex I	4	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	4	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0008347	Decreased activity of mitochondrial complex IV	4	RRM2B CL E G H	50484	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	293	17296	604712
HP:0012103	HP:0008314	Decreased activity of mitochondrial complex II	4	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0011923	Decreased activity of mitochondrial complex I	4	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	4	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0008347	Decreased activity of mitochondrial complex IV	4	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0011924	Decreased activity of mitochondrial complex III	4	SLC25A3 CL E G H	5250	91130				ORPHA	1	114	10989	600370
HP:0012103	HP:0011924	Decreased activity of mitochondrial complex III	4	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0008314	Decreased activity of mitochondrial complex II	4	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0011923	Decreased activity of mitochondrial complex I	4	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	4	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0008347	Decreased activity of mitochondrial complex IV	4	SLC25A4 CL E G H	291	254892				ORPHA	1	278	10990	103220
HP:0012103	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	4	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0008347	Decreased activity of mitochondrial complex IV	4	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0011924	Decreased activity of mitochondrial complex III	4	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0008314	Decreased activity of mitochondrial complex II	4	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0011923	Decreased activity of mitochondrial complex I	4	TWNK CL E G H	56652	254892				ORPHA	1	308	1160	606075
HP:0012103	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	4	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0008347	Decreased activity of mitochondrial complex IV	4	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0011924	Decreased activity of mitochondrial complex III	4	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0008314	Decreased activity of mitochondrial complex II	4	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HP:0012103	HP:0011923	Decreased activity of mitochondrial complex I	4	TYMP CL E G H	1890	298	Mitochondrial neurogastrointestinal encephalomyopathy		CN918676	ORPHA	1	803	3148	131222
HPO disease - gene - phenotype less frequent non-typical associations: