Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome		82
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum		148
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4		57
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome		41
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic		42
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	FARS2 CL E G H	10667	21062	ORPHA:466722	Autosomal recessive spastic paraplegia type 77	HP:0040283 - Occasional	36
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency		61
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type		191
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16		13
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency		7
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency		32
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency		1
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency		40
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency		26
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency		31
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency		50
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency		34
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency		3
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency		9
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency		16
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency		81
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency		65
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency		22
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency		27
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency		21
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency		38
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency		42
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency		74
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency		27
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency		89
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome		214
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis		3
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13		60
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		464
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		464
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		464
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		45
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4		45
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia		57
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1		57
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		125
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		125
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		68
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		68
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency		73
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8		23
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency		1
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia		103
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3		103
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency		4
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040281 - Very frequent
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040281 - Very frequent
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040281 - Very frequent
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia	HP:0040281 - Very frequent
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNT CL E G H	4576	7499	OMIM:551000	Myopathy, mitochondrial, lethal infantile
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia		113
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		113
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)		138
HP:0003800	HP:0003800	Muscle abnormality related to mitochondrial dysfunction	0	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia		45
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0003800	HP:0003737	Mitochondrial myopathy	1	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.	82
HP:0003800	HP:0003737	Mitochondrial myopathy	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003800	HP:0003737	Mitochondrial myopathy	1	ATP6 CL E G H	4508	7414	OMIM:551500	Neuropathy, ataxia, and retinitis pigmentosa	.
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0003800	HP:0003737	Mitochondrial myopathy	1	CAV3 CL E G H	859	1529	OMIM:123320	Creatine phosphokinase, elevated serum		148
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0003800	HP:0003737	Mitochondrial myopathy	1	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3		82
HP:0003800	HP:0003737	Mitochondrial myopathy	1	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003800	HP:0003737	Mitochondrial myopathy	1	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0003800	HP:0003737	Mitochondrial myopathy	1	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003800	HP:0003737	Mitochondrial myopathy	1	DGUOK CL E G H	1716	2858	OMIM:617070	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	.	57
HP:0003800	HP:0003737	Mitochondrial myopathy	1	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent	41
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	ETHE1 CL E G H	23474	23287	OMIM:602473	Encephalopathy, ethylmalonic	.	42
HP:0003800	HP:0003737	Mitochondrial myopathy	1	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	.
HP:0003800	HP:0003737	Mitochondrial myopathy	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	61
HP:0003800	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.	19
HP:0003800	HP:0003737	Mitochondrial myopathy	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.	19
HP:0003800	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040282 - Frequent	191
HP:0003800	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16		13
HP:0003800	HP:0003737	Mitochondrial myopathy	1	MSTO1 CL E G H	55154	29678	ORPHA:502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	HP:0040282 - Frequent
HP:0003800	HP:0003737	Mitochondrial myopathy	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0003800	HP:0003737	Mitochondrial myopathy	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003800	HP:0003737	Mitochondrial myopathy	1	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003800	HP:0003737	Mitochondrial myopathy	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0003800	HP:0003737	Mitochondrial myopathy	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003800	HP:0003737	Mitochondrial myopathy	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0003800	HP:0003737	Mitochondrial myopathy	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003800	HP:0003737	Mitochondrial myopathy	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003800	HP:0003737	Mitochondrial myopathy	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003800	HP:0003737	Mitochondrial myopathy	1	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003800	HP:0003737	Mitochondrial myopathy	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003800	HP:0003737	Mitochondrial myopathy	1	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	7
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	32
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	40
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	26
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	31
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	50
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	34
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	3
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	9
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	16
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	81
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	65
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	22
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	21
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	38
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	42
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	74
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	27
HP:0003800	HP:0003737	Mitochondrial myopathy	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	89
HP:0003800	HP:0003737	Mitochondrial myopathy	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040282 - Frequent	214
HP:0003800	HP:0003737	Mitochondrial myopathy	1	PNPLA8 CL E G H	50640	28900	OMIM:251950	Mitochondrial myopathy with lactic acidosis	.	3
HP:0003800	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional	60
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0003800	HP:0003737	Mitochondrial myopathy	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0003800	HP:0003737	Mitochondrial myopathy	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0003800	HP:0003737	Mitochondrial myopathy	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0003800	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	1	POLG CL E G H	5428	9179	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	464
HP:0003800	HP:0003737	Mitochondrial myopathy	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)	.	464
HP:0003800	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0003800	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1		464
HP:0003800	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0003800	HP:0003737	Mitochondrial myopathy	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0003800	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive		464
HP:0003800	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0003800	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		464
HP:0003800	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0003800	HP:0003737	Mitochondrial myopathy	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	45
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	45
HP:0003800	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4		45
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.	45
HP:0003800	HP:0003737	Mitochondrial myopathy	1	PUS1 CL E G H	80324	15508	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent	57
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	PUS1 CL E G H	80324	15508	OMIM:600462	Myopathy, lactic acidosis, and sideroblastic anemia 1	.	57
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	125
HP:0003800	HP:0003737	Mitochondrial myopathy	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	125
HP:0003800	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5		125
HP:0003800	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	68
HP:0003800	HP:0003737	Mitochondrial myopathy	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	68
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0003800	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0003800	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0003800	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2		68
HP:0003800	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	1	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	.	68
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	.	68
HP:0003800	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.	73
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	TACO1 CL E G H	51204	24316	OMIM:619052	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 8; MC4DN8		23
HP:0003800	HP:0003737	Mitochondrial myopathy	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent	103
HP:0003800	HP:0003737	Mitochondrial myopathy	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent	103
HP:0003800	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.	103
HP:0003800	HP:0003737	Mitochondrial myopathy	1	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	.	103
HP:0003800	HP:0003737	Mitochondrial myopathy	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	4
HP:0003800	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040281 - Very frequent	101
HP:0003800	HP:0003737	Mitochondrial myopathy	1	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040281 - Very frequent
HP:0003800	HP:0003737	Mitochondrial myopathy	1	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003800	HP:0003737	Mitochondrial myopathy	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003800	HP:0003737	Mitochondrial myopathy	1	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003800	HP:0003737	Mitochondrial myopathy	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003800	HP:0003737	Mitochondrial myopathy	1	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0003800	HP:0003737	Mitochondrial myopathy	1	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0003800	HP:0003737	Mitochondrial myopathy	1	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003800	HP:0003737	Mitochondrial myopathy	1	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003800	HP:0003737	Mitochondrial myopathy	1	TRNT CL E G H	4576	7499	OMIM:551000	Myopathy, mitochondrial, lethal infantile
HP:0003800	HP:0003737	Mitochondrial myopathy	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003800	HP:0003737	Mitochondrial myopathy	1	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003800	HP:0003737	Mitochondrial myopathy	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0003800	HP:0003737	Mitochondrial myopathy	1	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	113
HP:0003800	HP:0003737	Mitochondrial myopathy	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	113
HP:0003800	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3		113
HP:0003800	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.	113
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.	113
HP:0003800	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113
HP:0003800	HP:0009141	Depletion of mitochondrial DNA in muscle tissue	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis		113
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113
HP:0003800	HP:0003548	Subsarcolemmal accumulations of abnormally shaped mitochondria	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0003800	HP:0003688	Cytochrome C oxidase-negative muscle fibers	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0003800	HP:0003737	Mitochondrial myopathy	1	TYMP CL E G H	1890	3148	OMIM:603041	Mitochondrial DNA depletion syndrome 1 (mngie type)	.	138
HP:0003800	HP:0003737	Mitochondrial myopathy	1	YARS2 CL E G H	51067	24249	ORPHA:2598	Mitochondrial myopathy and sideroblastic anemia	HP:0040281 - Very frequent	45
HP:0003800	HP:0003689	Multiple mitochondrial DNA deletions	2	LIG3 CL E G H	3980	6600	OMIM:619780	MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE); MTDPS20		1
HP:0003800	HP:0003689	Multiple mitochondrial DNA deletions	2	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0003800	HP:0003689	Multiple mitochondrial DNA deletions	2	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0003800	HP:0003689	Multiple mitochondrial DNA deletions	2	POLG CL E G H	5428	9179	OMIM:157640	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1	.	464
HP:0003800	HP:0003689	Multiple mitochondrial DNA deletions	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.	464
HP:0003800	HP:0003689	Multiple mitochondrial DNA deletions	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	464
HP:0003800	HP:0003689	Multiple mitochondrial DNA deletions	2	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	.	45
HP:0003800	HP:0003689	Multiple mitochondrial DNA deletions	2	RRM2B CL E G H	50484	17296	OMIM:613077	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	.	125
HP:0003800	HP:0003689	Multiple mitochondrial DNA deletions	2	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0003800	HP:0003689	Multiple mitochondrial DNA deletions	2	SLC25A4 CL E G H	291	10990	OMIM:609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	.	68
HP:0003800	HP:0009069	Lethal infantile mitochondrial myopathy	2	TRNT CL E G H	4576	7499	OMIM:551000	Myopathy, mitochondrial, lethal infantile	.
HP:0003800	HP:0003689	Multiple mitochondrial DNA deletions	2	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	.	113
HP:0003800	HP:0003689	Multiple mitochondrial DNA deletions	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.	113