Human Phenotype Ontology

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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 metabolism/homeostasis (HP:0001939)

Parent Node:
Abnormality of cell physiology (HP:0011017)

..Starting node
..Abnormality of the mitochondrion (HP:0012103)

Term ID:

12103

Name:

Abnormality of the mitochondrion

Synonym:

Mitochondrial abnormalities

Definition:

An anomaly of the mitochondrion, the membranous cytoplasmic organelle the interior of which is subdivided by cristae. The mitochondrion is a self replicating organelle that is the site of tissue respiration.

Comments:

Reference:

HP:0012103

Genes and Diseases:

HPO-Disease-Gene Association for HP:0012103 and all of its descedant HPO terms

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	ConceptID	Source	HGMD variants	ClinVar variants
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	KCNJ10	3766	199343	EAST syndrome		ORPHA	27	121
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	PEX5	5830	214110	Peroxisome biogenesis disorder 2a (zellweger)	C1859228	OMIM	14	99
HP:0012103	HP:0012103	Abnormality of the mitochondrion	0	SLC25A3	5250	91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome		ORPHA	5	35
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	AK2	204	33355	Reticular dysgenesis		ORPHA	17	19
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	COX1	4512	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	COX2	4513	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	COX3	4514	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	IBA57	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	C3809165	OMIM	10	16
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ND1	4535	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ND4	4538	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ND5	4540	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	ND6	4541	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	SDHD	6392	615106	Cowden syndrome 3	C3554516	OMIM	161	129
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	TAZ	6901	302060	3-Methylglutaconic aciduria type 2	C0574083	OMIM	150	87
HP:0012103	HP:0008322	Abnormal mitochondrial morphology	1	TAZ	6901	111	Recurrent respiratory papillomatosis		ORPHA	150	87
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRNF	4558	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRNH	4564	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRNL1	4567	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRNQ	4572	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRNS1	4574	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRNS2	4575	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0012103	HP:0003287	Abnormality of mitochondrial metabolism	1	TRNW	4578	550	Adenylosuccinate lyase deficiency	C0268126	ORPHA
HP:0012103	HP:0030059	Mitochondrial depletion	2
HP:0012103	HP:0008265	Mitochondrial lysine transport defect	2
HP:0012103	HP:0012102	Abnormal mitochondrial number	2
HP:0012103	HP:0003288	Mitochondrial propionyl-CoA carboxylase defect	2
HP:0012103	HP:0003234	Decreased plasma carnitine	2	ACAD8	27034	611283	Deficiency of isobutyryl-CoA dehydrogenase	C1969809	OMIM	21	58
HP:0012103	HP:0003234	Decreased plasma carnitine	2	ACADM	34	201450	Medium-chain acyl-coenzyme A dehydrogenase deficiency	C0220710	OMIM	168	197
HP:0012103	HP:0003234	Decreased plasma carnitine	2	ACADVL	37	201475	Very long chain acyl-CoA dehydrogenase deficiency	C0342784	OMIM	260	200
HP:0012103	HP:0003535	3-Methylglutaconic aciduria	2	AGK	55750	212350	Cataract and cardiomyopathy	C1859317	OMIM	19	82
HP:0012103	HP:0003535	3-Methylglutaconic aciduria	2	ATP5E	514	614053	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3	C3279708	OMIM	1	7
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	ATP6	4508	104	Ochoa syndrome	C0403555	ORPHA
HP:0012103	HP:0003535	3-Methylglutaconic aciduria	2	ATPAF2	91647	604273	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1	C2700431	OMIM	1	32
HP:0012103	HP:0003535	3-Methylglutaconic aciduria	2	AUH	549	250950	3-Methylglutaconic aciduria	C0342727	OMIM	11	49
HP:0012103	HP:0003535	3-Methylglutaconic aciduria	2	AUH	549	67046	3-methylglutaconic aciduria type 1		ORPHA	11	49
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	CAMKMT	79823	163693	2p21 microdeletion syndrome		ORPHA		1
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	COX1	4512	104	Ochoa syndrome	C0403555	ORPHA
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	COX3	4514	104	Ochoa syndrome	C0403555	ORPHA
HP:0012103	HP:0003234	Decreased plasma carnitine	2	CTNS	1497	219800	Nephropathic cystinosis	C0010690	OMIM	141	178
HP:0012103	HP:0003514	Deficiency or absence of cytochrome b(-245)	2	CYBA	1535	233690	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	C1856255	OMIM	71	27
HP:0012103	HP:0003514	Deficiency or absence of cytochrome b(-245)	2	CYBB	1536	306400	Chronic granulomatous disease, X-linked	C1844376	OMIM	751	111
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	CYTB	4519	104	Ochoa syndrome	C0403555	ORPHA
HP:0012103	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2	ETFA	2108	231680	Glutaric aciduria, type 2	C0268596	OMIM	28	37
HP:0012103	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2	ETFB	2109	231680	Glutaric aciduria, type 2	C0268596	OMIM	13	27
HP:0012103	HP:0003647	Electron transfer flavoprotein-ubiquinone oxidoreductase defect	2	ETFDH	2110	231680	Glutaric aciduria, type 2	C0268596	OMIM	168	77
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	FBXL4	26235	615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	C3809592	OMIM	34	384
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	FOXRED1	55572	2609	Isolated complex I deficiency		ORPHA	7	61
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	FOXRED1	55572	252010	Mitochondrial complex I deficiency	C1838979	OMIM	7	61
HP:0012103	HP:0003232	Mitochondrial malic enzyme reduced	2	FXN	2395	229300	Friedreich ataxia 1	C1856689	OMIM	65	18
HP:0012103	HP:0100950	Decreased activity of 3-hydroxyacyl-CoA dehydrogenase	2	HADHA	3030	609016	Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency	CN074230	OMIM	68	99
HP:0012103	HP:0003234	Decreased plasma carnitine	2	HMGCL	3155	246450	Deficiency of hydroxymethylglutaryl-CoA lyase	C0268601	OMIM	51	35
HP:0012103	HP:0008306	Abnormal iron deposition in mitochondria	2	ISCU	23479	255125	Myopathy with lactic acidosis, hereditary	C1850718	OMIM	2	19
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	ND1	4535	2609	Isolated complex I deficiency		ORPHA
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	ND1	4535	104	Ochoa syndrome	C0403555	ORPHA
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	ND2	4536	2609	Isolated complex I deficiency		ORPHA
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	ND2	4536	104	Ochoa syndrome	C0403555	ORPHA
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	ND3	4537	2609	Isolated complex I deficiency		ORPHA
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	ND4	4538	104	Ochoa syndrome	C0403555	ORPHA
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	ND4L	4539	104	Ochoa syndrome	C0403555	ORPHA
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	ND5	4540	104	Ochoa syndrome	C0403555	ORPHA
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	ND6	4541	104	Ochoa syndrome	C0403555	ORPHA
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFA1	4694	2609	Isolated complex I deficiency		ORPHA	5	7
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFA1	4694	252010	Mitochondrial complex I deficiency	C1838979	OMIM	5	7
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFA11	126328	2609	Isolated complex I deficiency		ORPHA	1	32
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFA11	126328	252010	Mitochondrial complex I deficiency	C1838979	OMIM	1	32
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFAF1	51103	2609	Isolated complex I deficiency		ORPHA	7	40
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFAF1	51103	252010	Mitochondrial complex I deficiency	C1838979	OMIM	7	40
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFAF2	91942	2609	Isolated complex I deficiency		ORPHA	8	26
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFAF2	91942	252010	Mitochondrial complex I deficiency	C1838979	OMIM	8	26
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFAF3	25915	2609	Isolated complex I deficiency		ORPHA	5	31
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFAF3	25915	252010	Mitochondrial complex I deficiency	C1838979	OMIM	5	31
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFAF4	29078	2609	Isolated complex I deficiency		ORPHA	2	50
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFAF4	29078	252010	Mitochondrial complex I deficiency	C1838979	OMIM	2	50
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFAF5	79133	2609	Isolated complex I deficiency		ORPHA	10	34
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFAF5	79133	252010	Mitochondrial complex I deficiency	C1838979	OMIM	10	34
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFB3	4709	2609	Isolated complex I deficiency		ORPHA	2	9
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFB3	4709	252010	Mitochondrial complex I deficiency	C1838979	OMIM	2	9
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFB9	4715	2609	Isolated complex I deficiency		ORPHA	2	16
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFB9	4715	252010	Mitochondrial complex I deficiency	C1838979	OMIM	2	16
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFS1	4719	2609	Isolated complex I deficiency		ORPHA	19	81
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFS1	4719	252010	Mitochondrial complex I deficiency	C1838979	OMIM	19	81
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFS2	4720	2609	Isolated complex I deficiency		ORPHA	22	65
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFS2	4720	252010	Mitochondrial complex I deficiency	C1838979	OMIM	22	65
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFS3	4722	2609	Isolated complex I deficiency		ORPHA	3	22
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFS3	4722	252010	Mitochondrial complex I deficiency	C1838979	OMIM	3	22
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFS4	4724	2609	Isolated complex I deficiency		ORPHA	16	27
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFS4	4724	252010	Mitochondrial complex I deficiency	C1838979	OMIM	16	27
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFS6	4726	2609	Isolated complex I deficiency		ORPHA	4	21
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFS6	4726	252010	Mitochondrial complex I deficiency	C1838979	OMIM	4	21
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFS7	374291	2609	Isolated complex I deficiency		ORPHA	8	38
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFS8	4728	2609	Isolated complex I deficiency		ORPHA	12	42
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFV1	4723	2609	Isolated complex I deficiency		ORPHA	32	74
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFV1	4723	252010	Mitochondrial complex I deficiency	C1838979	OMIM	32	74
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFV2	4729	2609	Isolated complex I deficiency		ORPHA	4	27
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NDUFV2	4729	252010	Mitochondrial complex I deficiency	C1838979	OMIM	4	27
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NUBPL	80224	2609	Isolated complex I deficiency		ORPHA	9	89
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	NUBPL	80224	252010	Mitochondrial complex I deficiency	C1838979	OMIM	9	89
HP:0012103	HP:0003535	3-Methylglutaconic aciduria	2	OPA3	80207	258501	3-Methylglutaconic aciduria type 3	C0574084	OMIM	15	163
HP:0012103	HP:0003535	3-Methylglutaconic aciduria	2	OPA3	80207	67047	3-methylglutaconic aciduria type 3		ORPHA	15	163
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	PDHA1	5160	312170	Pyruvate dehydrogenase E1-alpha deficiency	C1839414	OMIM	168	88
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	PDHX	8050	245349	Pyruvate dehydrogenase E3-binding protein deficiency	C1855553	OMIM	22	98
HP:0012103	HP:0002928	Decreased activity of the pyruvate dehydrogenase complex	2	PDP1	54704	608782	Pyruvate dehydrogenase phosphatase deficiency	C1837429	OMIM	2	52
HP:0012103	HP:0003535	3-Methylglutaconic aciduria	2	POLG	5428	203700	Progressive sclerosing poliodystrophy	C0205710	OMIM	277	464
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	PPM1B	5495	163693	2p21 microdeletion syndrome		ORPHA
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	PREPL	9581	163693	2p21 microdeletion syndrome		ORPHA	8	7
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	SDHA	6389	252011	Mitochondrial complex II deficiency	C1855008	OMIM	44	304
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	SDHAF1	644096	252011	Mitochondrial complex II deficiency	C1855008	OMIM	6	16
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	SDHD	6392	252011	Mitochondrial complex II deficiency	C1855008	OMIM	161	129
HP:0012103	HP:0003535	3-Methylglutaconic aciduria	2	SERAC1	84947	614739	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	C3553597	OMIM	23	47
HP:0012103	HP:0003234	Decreased plasma carnitine	2	SLC22A5	6584	212140	Renal carnitine transport defect	C0342788	OMIM	121	207
HP:0012103	HP:0012087	Abnormal mitochondrial shape	2	SLC25A3	5250	610773	Mitochondrial phosphate carrier deficiency	C1835845	OMIM	5	35
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	SLC3A1	6519	163693	2p21 microdeletion syndrome		ORPHA	177	55
HP:0012103	HP:0003535	3-Methylglutaconic aciduria	2	TAZ	6901	302060	3-Methylglutaconic aciduria type 2	C0574083	OMIM	150	87
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	TMEM126B	55863	2609	Isolated complex I deficiency		ORPHA	4	4
HP:0012103	HP:0008316	Abnormal mitochondria in muscle tissue	2	TMEM126B	55863	252010	Mitochondrial complex I deficiency	C1838979	OMIM	4	4
HP:0012103	HP:0003535	3-Methylglutaconic aciduria	2	TMEM70	54968	614052	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2	C3279699	OMIM	18	63
HP:0012103	HP:0003535	3-Methylglutaconic aciduria	2	TMEM70	54968	1194	TMEM70-related mitochondrial encephalo-cardio-myopathy		ORPHA	18	63
HP:0012103	HP:0011922	Abnormal activity of mitochondrial respiratory chain	2	TRMT5	57570	616539	Combined oxidative phosphorylation deficiency 26	C4225290	OMIM	3	4
HP:0012103	HP:0200125	Mitochondrial respiratory chain defects	2	TRMU	55687	613070	Liver failure acute infantile	C2751567	OMIM	16	101
HP:0012103	HP:0040015	Increased activity of mitochondrial respiratory chain	3
HP:0012103	HP:0040013	Decreased mitochondrial number	3
HP:0012103	HP:0040014	Increased mitochondrial number	3
HP:0012103	HP:0030774	Mitochondrial swelling	3
HP:0012103	HP:0008972	Decreased activity of mitochondrial respiratory chain	3	BOLA3	388962	614299	Multiple mitochondrial dysfunctions syndrome 2	C3280378	OMIM	5	14
HP:0012103	HP:0011936	Decreased plasma total carnitine	3	CPT2	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	C1833518	OMIM	104	101
HP:0012103	HP:0008315	Decreased plasma free carnitine	3	CPT2	1376	608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	C1833518	OMIM	104	101
HP:0012103	HP:0008972	Decreased activity of mitochondrial respiratory chain	3	DGUOK	1716	251880	Mitochondrial DNA-depletion syndrome 3, hepatocerebral	C3151513	OMIM	60	57
HP:0012103	HP:0003344	3-Methylglutaric aciduria	3	DNAJC19	131118	610198	3-methylglutaconic aciduria type V	C1857776	OMIM	3	25
HP:0012103	HP:0008972	Decreased activity of mitochondrial respiratory chain	3	GFER	2671	613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay	C2751320	OMIM	5	14
HP:0012103	HP:0003344	3-Methylglutaric aciduria	3	HMGCL	3155	246450	Deficiency of hydroxymethylglutaryl-CoA lyase	C0268601	OMIM	51	35
HP:0012103	HP:0008315	Decreased plasma free carnitine	3	NADK2	133686	616034	2,4-Dienoyl-CoA reductase deficiency	C1857252	OMIM	2	14
HP:0012103	HP:0008972	Decreased activity of mitochondrial respiratory chain	3	NFU1	27247	605711	Multiple mitochondrial dysfunctions syndrome 1	C1854052	OMIM	13	34
HP:0012103	HP:0008972	Decreased activity of mitochondrial respiratory chain	3	SUCLA2	8803	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	C2749864	OMIM	27	66
HP:0012103	HP:0008972	Decreased activity of mitochondrial respiratory chain	3	TK2	7084	609560	Mitochondrial DNA depletion syndrome 2	C3149750	OMIM	44	103
HP:0012103	HP:0011925	Decreased activity of mitochondrial ATP synthase complex	4	ATP5E	514	614053	Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3	C3279708	OMIM	1	7
HP:0012103	HP:0011924	Decreased activity of mitochondrial complex III	4	EARS2	124454	614924	Combined oxidative phosphorylation deficiency 12	C3554079	OMIM	27	80
HP:0012103	HP:0008347	Decreased activity of mitochondrial complex IV	4	EARS2	124454	614924	Combined oxidative phosphorylation deficiency 12	C3554079	OMIM	27	80
HP:0012103	HP:0011923	Decreased activity of mitochondrial complex I	4	EARS2	124454	614924	Combined oxidative phosphorylation deficiency 12	C3554079	OMIM	27	80
HP:0012103	HP:0011923	Decreased activity of mitochondrial complex I	4	ISCU	23479	255125	Myopathy with lactic acidosis, hereditary	C1850718	OMIM	2	19
HP:0012103	HP:0011924	Decreased activity of mitochondrial complex III	4	ISCU	23479	255125	Myopathy with lactic acidosis, hereditary	C1850718	OMIM	2	19
HP:0012103	HP:0008314	Decreased activity of mitochondrial complex II	4	ISCU	23479	255125	Myopathy with lactic acidosis, hereditary	C1850718	OMIM	2	19
HP:0012103	HP:0008314	Decreased activity of mitochondrial complex II	4	SDHA	6389	252011	Mitochondrial complex II deficiency	C1855008	OMIM	44	304
HP:0012103	HP:0008314	Decreased activity of mitochondrial complex II	4	SDHAF1	644096	252011	Mitochondrial complex II deficiency	C1855008	OMIM	6	16
HP:0012103	HP:0008314	Decreased activity of mitochondrial complex II	4	SDHD	6392	252011	Mitochondrial complex II deficiency	C1855008	OMIM	161	129
HP:0012103	HP:0011924	Decreased activity of mitochondrial complex III	4	TSFM	10102	610505	Combined oxidative phosphorylation deficiency 3	C1864840	OMIM	7	43
HP:0012103	HP:0008347	Decreased activity of mitochondrial complex IV	4	TSFM	10102	610505	Combined oxidative phosphorylation deficiency 3	C1864840	OMIM	7	43
HP:0012103	HP:0011923	Decreased activity of mitochondrial complex I	4	TSFM	10102	610505	Combined oxidative phosphorylation deficiency 3	C1864840	OMIM	7	43

Note: The variant numbers are the total numbers per gene, not limited to the listed diseases or phenotypes.

Genes (92) :ACAD8 ACADM ACADVL AGK AK2 ATP5E ATP6 ATPAF2 AUH BOLA3 CAMKMT COX1 COX2 COX3 CPT2 CTNS CYBA CYBB CYTB DGUOK DNAJC19 EARS2 ETFA ETFB ETFDH FBXL4 FOXRED1 FXN GFER HADHA HMGCL IBA57 ISCU KCNJ10 NADK2 ND1 ND2 ND3 ND4 ND4L ND5 ND6 NDUFA1 NDUFA11 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFB3 NDUFB9 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NFU1 NUBPL OPA3 PDHA1 PDHX PDP1 PEX5 POLG PPM1B PREPL SDHA SDHAF1 SDHD SERAC1 SLC22A5 SLC25A3 SLC3A1 SUCLA2 TAZ TK2 TMEM126B TMEM70 TRMT5 TRMU TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TSFM

Diseases (55) :199343 214110 91130 33355 550 615330 615106 302060 111 611283 201450 201475 212350 614053 104 604273 250950 67046 163693 219800 233690 306400 231680 615471 2609 252010 229300 609016 246450 255125 258501 67047 312170 245349 608782 203700 252011 614739 212140 610773 614052 1194 616539 613070 614299 608836 251880 610198 613076 616034 605711 612073 609560 614924 610505

Child Nodes:

........

Abnormality of mitochondrial metabolism (HP:0003287)

................... HP:0002928 Decreased activity of the pyruvate dehydrogenase complex
................... HP:0003232 Mitochondrial malic enzyme reduced
................... HP:0003234 Decreased plasma carnitine
................... HP:0003288 Mitochondrial propionyl-CoA carboxylase defect
................... HP:0003514 Deficiency or absence of cytochrome b(-245)
................... HP:0003535 3-Methylglutaconic aciduria
................... HP:0003647 Electron transfer flavoprotein-ubiquinone oxidoreductase defect
................... HP:0008265 Mitochondrial lysine transport defect
................... HP:0008306 Abnormal iron deposition in mitochondria
................... HP:0008316 Abnormal mitochondria in muscle tissue
................... HP:0011922 Abnormal activity of mitochondrial respiratory chain
................... HP:0030059 Mitochondrial depletion
................... HP:0100950 Long chain 3 hydroxyacyl coA dehydrogenase deficiency
................... HP:0200125 Mitochondrial respiratory chain defects

........

Abnormal mitochondrial morphology (HP:0008322)

................... HP:0012087 Abnormal mitochondrial shape
................... HP:0012102 Abnormal mitochondrial number

Sister Nodes:

Abnormality of B cell physiology (HP:0005372)

Abnormality of chromosome condensation (HP:0011019)

Abnormality of chromosome segregation (HP:0002916)

Abnormality of chromosome stability (HP:0003220)

Abnormality of DNA repair (HP:0003254)

Abnormality of lysosomal metabolism (HP:0004356)

Abnormality of T cell physiology (HP:0011840)

Abnormality of the cell cycle (HP:0011018)

Increased cellular sensitivity to UV light (HP:0003224)

Increased sensitivity to ionizing radiation (HP:0011133)

Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is Feb. 201702 release.

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