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:0012103	HP:0012103	Abnormality of the mitochondrion	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of		197
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome		86
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis		19
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease		56
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome		1
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27		35
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance		11
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease		11
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3		2
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy		104
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency		82
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency		89
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome		41
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	DNM1L CL E G H	10059	2973	ORPHA:330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040281 - Very frequent	94
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome		145
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12		80
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy		33
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency		33
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency		61
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy		61
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19		61
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease		105
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay		14
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia		17
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23		30
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency		41
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency		99
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency		32
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type		19
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease		19
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3		16
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	1
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy		21
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type		191
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect		17
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome		11
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	MRPS23 CL E G H	51649	14509	OMIM:618952	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy		29
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy		1269
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency		14
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency		7
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy		91
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency		32
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14		32
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy		7
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23		7
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy		3
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy		19
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy		4
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency		1
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26		27
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency		40
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency		26
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy		26
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency		31
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency		50
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15		50
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency		34
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy		34
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy		39
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency		3
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency		9
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency		16
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24		16
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency		81
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy		81
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency		65
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy		65
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy		65
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency		22
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy		22
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency		27
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency		21
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency		38
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy		38
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency		42
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy		42
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency		74
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy		74
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4		74
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency		27
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency		89
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy		88
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency		88
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency		37
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency		98
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency		98
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency		52
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency		52
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy		6
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.	99
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13		60
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)		464
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	464
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	45
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)		45
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome		7
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	125
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	125
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy		304
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency		304
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy		110
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome	HP:0040281 - Very frequent	35
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY		35
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	68
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG		11
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome		55
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7		171
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease		62
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		66
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy		73
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy		23
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease		65
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease		20
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9		1
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency		1
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3		103
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency		4
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3		43
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy		7128
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	113
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29		1
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent	138
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease		63
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency		58
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of		197
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome		86
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	AK2 CL E G H	204	362	ORPHA:33355	Reticular dysgenesis	HP:0040281 - Very frequent	19
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	C9ORF72 CL E G H	203228	28337	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	56
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome		1
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27		35
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance		11
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	CHCHD10 CL E G H	400916	15559	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	11
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3		2
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form		263
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy		104
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic		178
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE		27
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis		114
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency		82
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency		89
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome		41
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040282 - Frequent	145
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12		80
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy		33
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency		33
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome		2
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		37
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		27
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency		77
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)		384
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency		61
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy		61
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19		61
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	FUS CL E G H	2521	4010	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	105
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1		18
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome		86
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay		14
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia		17
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23		30
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency		41
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency		41
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency		99
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040282 - Frequent	32
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency		35
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040281 - Very frequent	19
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.	19
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.	16
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy		21
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type		191
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect		17
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome		11
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	MRPS23 CL E G H	51649	14509	OMIM:618952	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy		29
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy		1269
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency		14
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency		7
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy		91
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency		32
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14		32
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy		7
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23		7
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy		3
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy		19
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy		4
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency		1
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26		27
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency		40
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency		26
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy		26
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency		31
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency		50
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15		50
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency		34
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy		34
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy		39
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome		39
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency		3
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency		9
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency		16
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24		16
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency		81
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy		81
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency		65
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy		65
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy		65
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency		22
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy		22
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency		27
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency		21
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency		38
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy		38
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency		42
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy		42
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency		74
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy		74
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4		74
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency		27
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy		27
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive		745
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency		89
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy		88
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency		88
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency		37
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency		98
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	PDHX CL E G H	8050	21350	OMIM:245349	Pyruvate dehydrogenase e3-binding protein deficiency		98
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	PDP1 CL E G H	54704	9279	OMIM:608782	Pyruvate dehydrogenase phosphatase deficiency		52
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	PDP1 CL E G H	54704	9279	ORPHA:79246	Pyruvate dehydrogenase phosphatase deficiency		52
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy		6
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13		60
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)	.	45
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome		7
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4		46
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy		304
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency		304
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy		110
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary		207
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency		40
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY		35
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome		47
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG		11
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome		55
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	SPG7 CL E G H	6687	11237	ORPHA:99013	Spastic paraplegia type 7	HP:0040282 - Frequent	171
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	SQSTM1 CL E G H	8878	11280	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	62
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)		66
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy		73
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy		23
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome	HP:0040282 - Frequent
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	TARDBP CL E G H	23435	11571	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	65
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	TBK1 CL E G H	29110	11584	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	20
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9		1
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency		1
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3		103
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency		4
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.	63
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient		101
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRNL1 CL E G H	4567	7490	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRNL2 CL E G H	4568	7491	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRNN CL E G H	4570	7493	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRNS1 CL E G H	4574	7497	ORPHA:663	Mitochondrial DNA-related progressive external ophthalmoplegia
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3		43
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy		7128
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29		1
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	VCP CL E G H	7415	12666	ORPHA:275872	Frontotemporal dementia with motor neuron disease	HP:0040283 - Occasional	63
HP:0012103	HP:0008265	Mitochondrial lysine transport defect	2	CL E G H
HP:0012103	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	2	CL E G H
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0012103	HP:0003234	Decreased plasma carnitine	2	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency	.	58
HP:0012103	HP:0003234	Decreased plasma carnitine	2	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent	58
HP:0012103	HP:0003234	Decreased plasma carnitine	2	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent	98
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0012103	HP:0003234	Decreased plasma carnitine	2	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.	197
HP:0012103	HP:0003234	Decreased plasma carnitine	2	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency		197
HP:0012103	HP:0003234	Decreased plasma carnitine	2	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency		200
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	AFG3L2 CL E G H	10939	315	ORPHA:313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	HP:0040282 - Frequent	86
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040281 - Very frequent	1
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27		35
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0012103	HP:0012102	Abnormal mitochondrial number	2	CHCHD10 CL E G H	400916	15559	ORPHA:457050	Autosomal dominant mitochondrial myopathy with exercise intolerance		11
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3		2
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0012103	HP:0003234	Decreased plasma carnitine	2	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040282 - Frequent	263
HP:0012103	HP:0003234	Decreased plasma carnitine	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		263
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy		104
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	104
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0012103	HP:0003234	Decreased plasma carnitine	2	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0012103	HP:0003234	Decreased plasma carnitine	2	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0012103	HP:0003234	Decreased plasma carnitine	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal		101
HP:0012103	HP:0003234	Decreased plasma carnitine	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.	178
HP:0012103	HP:0003514	Deficiency or absence of cytochrome b(-245)	2	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.	27
HP:0012103	HP:0003514	Deficiency or absence of cytochrome b(-245)	2	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.	111
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	DLAT CL E G H	1737	2896	OMIM:245348	Pyruvate dehydrogenase E2 deficiency	.	82
HP:0012103	HP:0003234	Decreased plasma carnitine	2	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040283 - Occasional	89
HP:0012103	HP:0012102	Abnormal mitochondrial number	2	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome		41
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12		80
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	33
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy		33
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	.	33
HP:0012103	HP:0003234	Decreased plasma carnitine	2	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	2
HP:0012103	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	37
HP:0012103	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	27
HP:0012103	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.	77
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	.	384
HP:0012103	HP:0012087	Abnormal mitochondrial shape	2	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040282 - Frequent
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency		61
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	61
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	61
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy		61
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19		61
HP:0012103	HP:0003232	Mitochondrial malic enzyme reduced	2	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.	18
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0012103	HP:0003234	Decreased plasma carnitine	2	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	86
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay		14
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0012103	HP:0012087	Abnormal mitochondrial shape	2	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040282 - Frequent	17
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	GLRX5 CL E G H	51218	20134	OMIM:616859	Spasticity, childhood-onset, with hyperglycinemia		17
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23		30
HP:0012103	HP:0012102	Abnormal mitochondrial number	2	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency		18
HP:0012103	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	2	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency	.	41
HP:0012103	HP:0003234	Decreased plasma carnitine	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	41
HP:0012103	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040280 - Obligate	41
HP:0012103	HP:0100950	Decreased 3-hydroxyacyl-CoA dehydrogenase level	2	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency	.	99
HP:0012103	HP:0003234	Decreased plasma carnitine	2	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.	35
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0012103	HP:0008306	Abnormal iron deposition in mitochondria	2	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.	19
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy		21
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	21
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type		191
HP:0012103	HP:0012087	Abnormal mitochondrial shape	2	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19		4
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0012103	HP:0003234	Decreased plasma carnitine	2	MCCC2 CL E G H	64087	6937	OMIM:210210	3-Methylcrotonyl-CoA carboxylase 2 deficiency		77
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0012103	HP:0012087	Abnormal mitochondrial shape	2	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent	17
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0012103	HP:0012102	Abnormal mitochondrial number	2	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome		11
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0012103	HP:0003234	Decreased plasma carnitine	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form		6
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	MRPS23 CL E G H	51649	14509	OMIM:618952	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	29
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy		29
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0012103	HP:0012087	Abnormal mitochondrial shape	2	MYH14 CL E G H	79784	23212	ORPHA:397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome		227
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040282 - Frequent	1269
HP:0012103	HP:0003234	Decreased plasma carnitine	2	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency		14
HP:0012103	HP:0003234	Decreased plasma carnitine	2	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent	14
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040281 - Very frequent
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency		7
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	7
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	91
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy		91
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency		32
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	32
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14		32
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy		7
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	7
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23		7
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy		3
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	3
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	19
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy		19
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy		4
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	4
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent	1
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2<