Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of mitochondrial metabolism (HP:0003287)

Parent Node:
Abnormal activity of mitochondrial respiratory chain (HP:0011922)

..Starting node
..Decreased activity of mitochondrial respiratory chain (HP:0008972)

Term ID:

8972

Name:

Decreased activity of mitochondrial respiratory chain

Synonym:

Decreased activities of mitochondrial-encoded respiratory chain complexes; Decreased activity of mitochondrial respiratory complexes

Definition:

Decreased activity of the mitochondrial respiratory chain.

Comments:

Reference:

HP:0008972

Genes and Diseases:

Child Nodes:

........

Decreased activity of mitochondrial complex II (HP:0008314)

........

Decreased activity of mitochondrial complex IV (HP:0008347)

........

Decreased activity of mitochondrial complex I (HP:0011923)

........

Decreased activity of mitochondrial complex III (HP:0011924)

........

Decreased activity of mitochondrial ATP synthase complex (HP:0011925)

Sister Nodes:

Increased activity of mitochondrial respiratory chain (HP:0040015)

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:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency		98
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.	14
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27		35
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3		2
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	104
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.	57
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12		80
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	33
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency		61
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	61
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19		61
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	GFER CL E G H	2671	4236	OMIM:613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay		14
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23		30
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74		16
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	21
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type		191
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	MRPS23 CL E G H	51649	14509	OMIM:618952	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	29
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency		7
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	91
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency		32
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14		32
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	7
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23		7
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	3
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	19
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	4
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency		1
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26		27
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency		40
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency		26
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	26
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency		31
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency		50
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15		50
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency		34
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	34
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	39
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency		3
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency		9
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency		16
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24		16
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency		81
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	81
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency		65
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	65
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency		22
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	22
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency		27
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency		21
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency		38
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	38
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency		42
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	42
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency		74
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	74
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4		74
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency		27
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	27
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1	.	34
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency		89
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	88
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	6
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	304
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency		304
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	110
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG		11
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	SUCLA2 CL E G H	8803	11448	OMIM:612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	.	66
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria		60
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	73
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent	23
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9		1
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency		1
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)	.	103
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	TK2 CL E G H	7084	11831	OMIM:617069	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3	.	103
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency		4
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency		101
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3		43
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29		1
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0008972	HP:0008972	Decreased activity of mitochondrial respiratory chain	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8		143
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040280 - Obligate	98
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency		98
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6		60
HP:0008972	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0008972	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	1	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0008972	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	1	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1		32
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1		72
HP:0008972	HP:0008314	Decreased activity of mitochondrial complex II	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia		14
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040282 - Frequent	35
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040282 - Frequent	35
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040282 - Frequent	35
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27		35
HP:0008972	HP:0008314	Decreased activity of mitochondrial complex II	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	CHCHD10 CL E G H	400916	15559	OMIM:616209	Myopathy, isolated mitochondrial, autosomal dominant		11
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	COA3 CL E G H	28958	24990	OMIM:619058	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14; MC4DN14		2
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3		2
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	COA8 CL E G H	84334	20492	OMIM:619061	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 17; MC4DN17
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	COX6A2 CL E G H	1339	2279	OMIM:619062	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18; MC4DN18
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	CYC1 CL E G H	1537	2579	OMIM:615453	Mitochondrial complex III deficiency, nuclear type 6		12
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)		57
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.	80
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.	80
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	.	80
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	61
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19		61
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42		1
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0008972	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	1	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1		85
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional	30
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional	30
HP:0008972	HP:0008314	Decreased activity of mitochondrial complex II	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent	16
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	IBA57 CL E G H	200205	27302	ORPHA:468661	Autosomal recessive spastic paraplegia type 74	HP:0040282 - Frequent	16
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.	19
HP:0008972	HP:0008314	Decreased activity of mitochondrial complex II	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.	19
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type		19
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	ISCU CL E G H	23479	29882	OMIM:255125	Myopathy with exercise intolerance, Swedish type	.	19
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040281 - Very frequent	191
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8		10
HP:0008972	HP:0008314	Decreased activity of mitochondrial complex II	1	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	MECR CL E G H	51102	19691	ORPHA:508093	MEPAN syndrome		6
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11		11
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0008972	HP:0008314	Decreased activity of mitochondrial complex II	1	MIEF2 CL E G H	125170	17920	OMIM:619024	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49; COXPD49
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	MRM2 CL E G H	29960	16352	OMIM:618567	MITOCHONDRIAL DNA DEPLETION SYNDROME 17; MTDPS17
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	MRPL12 CL E G H	6182	10378	OMIM:618951	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45; COXPD45		11
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0008972	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0008972	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	1	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	MRPS23 CL E G H	51649	14509	OMIM:618952	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	MRPS23 CL E G H	51649	14509	OMIM:618952	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46; COXPD46
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	MRPS25 CL E G H	64432	14511	OMIM:619025	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 50; COXPD50
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0008972	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	MTRFR CL E G H	91574	26784	OMIM:613559	Combined oxidative phosphorylation deficiency 7
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	7
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	32
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14		32
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23		7
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21		4
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	1
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33		1
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFA9 CL E G H	4704	7693	OMIM:618247	Mitochondrial complex I deficiency, nuclear type 26		27
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	40
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	26
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	31
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18		31
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	50
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15		50
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	34
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16		34
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFAF6 CL E G H	137682	28625	OMIM:618239	Mitochondrial complex I deficiency, nuclear type 17		39
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFAF8 CL E G H	284184	33551	OMIM:618776	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 34; MC1DN34
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	3
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	9
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	16
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFB9 CL E G H	4715	7704	OMIM:618245	Mitochondrial complex I deficiency, nuclear type 24		16
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	81
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	65
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	22
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8		22
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	27
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1		27
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	21
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	38
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	42
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	74
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4		74
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	27
HP:0008972	HP:0008314	Decreased activity of mitochondrial complex II	1	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52		5
HP:0008972	HP:0008314	Decreased activity of mitochondrial complex II	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1		34
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	NSUN3 CL E G H	63899	26208	OMIM:619012	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48; COXPD48
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	89
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21		89
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12		6
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	POLG CL E G H	5428	9179	OMIM:613662	Mitochondrial DNA depletion syndrome 4B (mngie type)		464
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)		125
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0008972	HP:0008314	Decreased activity of mitochondrial complex II	1	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg		304
HP:0008972	HP:0008314	Decreased activity of mitochondrial complex II	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.	304
HP:0008972	HP:0008314	Decreased activity of mitochondrial complex II	1	SDHB CL E G H	6390	10681	OMIM:619224	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 4; MC2DN4		237
HP:0008972	HP:0008314	Decreased activity of mitochondrial complex II	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	SLC25A10 CL E G H	1468	10980	OMIM:618972	MITOCHONDRIAL DNA DEPLETION SYNDROME 19; MTDPS19
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28		5
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)		68
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant		68
HP:0008972	HP:0008314	Decreased activity of mitochondrial complex II	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional	11
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional	11
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040282 - Frequent	60
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040282 - Frequent	60
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040282 - Frequent	60
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)		60
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	TIMM22 CL E G H	29928	17317	OMIM:618851	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43; COXPD43
HP:0008972	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	1	TIMM50 CL E G H	92609	23656	ORPHA:505216	3-methylglutaconic aciduria type 9	HP:0040281 - Very frequent	1
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	1
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0008972	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	1	TK2 CL E G H	7084	11831	OMIM:609560	Mitochondrial DNA depletion syndrome 2 (myopathic type)		103
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040280 - Obligate	4
HP:0008972	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2		63
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	TRIT1 CL E G H	54802	20286	OMIM:617873	Combined oxidative phosphorylation deficiency 35		12
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26		4
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040282 - Frequent	101
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040282 - Frequent
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent	1
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent	1
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29		1
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0008972	HP:0011924	Decreased activity of mitochondrial complex III	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7		7
HP:0008972	HP:0008347	Decreased activity of mitochondrial complex IV	1	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56
HP:0008972	HP:0011923	Decreased activity of mitochondrial complex I	1	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20		56

Genes (121) :AARS2 ACAD9 AIFM1 ATP5F1D ATP5F1E ATPAF2 BCS1L BOLA3 CARS2 CHCHD10 COA3 COA5 COA6 COA8 COX15 COX16 COX20 COX4I1 COX5A COX6A2 CYC1 DGUOK EARS2 ECHS1 FOXRED1 GATC GFER GFM1 GTPBP3 IBA57 ISCU KARS1 LIPT1 LRPPRC LYRM7 MECR MGME1 MIEF2 MPV17 MRM2 MRPL12 MRPS14 MRPS16 MRPS23 MRPS25 MTFMT MTRFR ND1 ND2 ND3 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA8 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFS1 NFU1 NSUN3 NUBPL PDHA1 PET100 PET117 POLG PTCD3 QRSL1 RARS2 RRM2B SCO2 SDHA SDHB SDHD SLC19A3 SLC25A10 SLC25A26 SLC25A4 SLC39A8 SUCLA2 SUCLG1 SURF1 TACO1 TIMM22 TIMM50 TIMMDC1 TK2 TMEM126B TMEM70 TRIT1 TRMT5 TRMU TRNE TSFM TXN2 UQCC2 VARS2

Diseases (105) :OMIM:614096 ORPHA:99901 OMIM:611126 OMIM:300816 OMIM:618120 OMIM:614053 OMIM:604273 OMIM:124000 OMIM:614299 ORPHA:477774 OMIM:616672 OMIM:616209 OMIM:619058 OMIM:616500 OMIM:616501 OMIM:619061 ORPHA:255241 OMIM:619355 OMIM:619054 OMIM:619060 OMIM:619064 OMIM:619062 OMIM:615453 OMIM:251880 OMIM:614924 ORPHA:2609 OMIM:618241 OMIM:618839 OMIM:613076 OMIM:609060 ORPHA:444013 ORPHA:468661 OMIM:255125 OMIM:619147 ORPHA:70472 OMIM:615838 ORPHA:508093 OMIM:615084 OMIM:619024 OMIM:256810 OMIM:618567 OMIM:618951 OMIM:618378 OMIM:610498 OMIM:618952 OMIM:619025 OMIM:618248 OMIM:613559 OMIM:618236 OMIM:618244 OMIM:619065 OMIM:618253 OMIM:619272 OMIM:618247 OMIM:618240 OMIM:618237 OMIM:618238 OMIM:618239 OMIM:618776 OMIM:619003 OMIM:620135 OMIM:618245 OMIM:619170 OMIM:618230 OMIM:252010 OMIM:618222 OMIM:618225 OMIM:619386 OMIM:605711 OMIM:619012 OMIM:618242 OMIM:619055 OMIM:619063 OMIM:613662 OMIM:619057 OMIM:618835 OMIM:611523 OMIM:612075 OMIM:604377 OMIM:613642 OMIM:252011 OMIM:619224 OMIM:619167 OMIM:618972 OMIM:616794 OMIM:615418 OMIM:617184 ORPHA:468699 OMIM:612073 ORPHA:17 OMIM:245400 OMIM:618851 ORPHA:505216 OMIM:618251 OMIM:609560 OMIM:617069 OMIM:614052 OMIM:617873 OMIM:616539 ORPHA:254864 OMIM:610505 ORPHA:478029 OMIM:616811 OMIM:615824 OMIM:615917

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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