View mitochondrial diseases: 182 entries.

	ID	Abbreviation	Name	OMIM ID	Individuals	Phenotypes	Associated with genes
	00467	HADH Dificiency	3-@HYDROXYACYL-CoA DEHYDROGENASE; HADH	231530	0	0	, HADH
	00484	MEGDEL	3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME; MEGDEL	614739	0	0	SERAC1
	00495	MGCA1	3-METHYLGLUTACONIC ACIDURIA, TYPE I; MGCA1	250950	0	0	AUH
	00496	MGCA3	3-METHYLGLUTACONIC ACIDURIA, TYPE III; MGCA3	258501	0	0	OPA3
	00079	MGCA5	3-METHYLGLUTACONIC ACIDURIA, TYPE V; MGCA5	610198	0	0	DNAJC19
	00419	611126	ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF	611126	0	0	ACAD9
	00434	ACADMD	ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF; ACADMD	201450	0	0	ACADM
	00435	ACADSD	ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF; ACADSD	201470	0	0	ACADS
	00436	ACADVLD	ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD	201475	0	0	ACADVL
	00147	502000	AGING aging represents a phenotype seemingly related to changes in mitochondrial DNA	502000	0	0	-
	00081	610251	Alcohol sensitivity, acute, 610251 (3)	610251	0	0	ALDH2
	00402	203750	ALPHA-METHYLACETOACETIC ACIDURIA	203750	0	0	ACAT1
	00161	502500	ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL	502500	0	0	-
	00083	SPAX4	Ataxia, spastic, 4, 613672 (3)	613672	0	0	MTPAP
	00141	MTATP6	ATP SYNTHASE 6;;MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1, INCLUDED	516060	0	0	, MT-ATP6
	00399	BTHS	BARTH SYNDROME; BTHS	302060	0	0	TAZ
	00084	BJS	Bjornstad syndrome, 262000 (3)	262000	0	0	BCS1L
	00085	237300	Carbamoylphosphate synthetase I deficiency;CPS I DEFICIENCY	237300	0	0	CPS1
	00482	CEMCOX1	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 1; CEMCOX1	604377	0	0	SCO2
	00086	CMD1GG	Cardiomyopathy, dilated, 1GG, 613642 (3)	613642	0	0	SDHA
	00151	500000	CARDIOMYOPATHY, INFANTILE HISTIOCYTOID	500000	0	0	MT-CYB
	00438	212160	CARNITINE DEFICIENCY, MYOPATHIC	212160	0	0	-
	00473	CDSP	CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP	212140	0	0	SLC22A5
	00440	255120	CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY	255120	0	0	-, CPT1A
	00466	CPT II	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE;CPT2	600649	0	0	, CPT2
	00486	255110	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET	255110	0	0	CPT2
	00487	608836	CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL	608836	0	0	CPT2
	00437	CACTD	CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY;CACTD	212138	0	0	SLC25A20
	00444	CCDS3	CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3	612718	0	0	GATM
	00488	CMT2A2	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2	609260	0	0	MFN2
	00145	515000	CHLORAMPHENICOL TOXICITY;ANEMIA, CHLORAMPHENICOL-INDUCED;CHLORAMPHENICOL RESISTANCE, INCLUDED	515000	0	0	, MT-RNR2
	00088	CTLN2	Citrullinemia, adult-onset type II, 603471 (3)	603471	0	0	SLC25A13
	00089	605814	Citrullinemia, type II, neonatal-onset, 605814 (3)	605814	0	0	SLC25A13
	00090	COQ10D1	Coenzyme Q10 deficiency, primary, 1, 607426 (3)	607426	0	0	COQ2
	00446	COQ10D2	COENZYME Q10 DEFICIENCY, PRIMARY, 2; COQ10D2	614651	0	0	PDSS1
	00447	COQ10D3	COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3	614652	0	0	PDSS2
	00443	COQ10D4	COENZYME Q10 DEFICIENCY, PRIMARY, 4; COQ10D4	612016	0	0	ADCK3
	00448	COQ10D5	COENZYME Q10 DEFICIENCY, PRIMARY, 5; COQ10D5	614654	0	0	COQ9
	00480	COQ10D6	COENZYME Q10 DEFICIENCY, PRIMARY, 6; COQ10D6	614650	0	0	COQ6
	00091	D2L2AD	Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)	615182	0	0	SLC25A1
	00092	COXPD1	Combined oxidative phosphorylation deficiency 1, 609060 (3)	609060	0	0	GFM1
	00093	COXPD10	Combined oxidative phosphorylation deficiency 10, 614702 (3)	614702	0	0	MTO1
	00423	COXPD11	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11; COXPD11	614922	0	0	RMND1
	00094	COXPD14	Combined oxidative phosphorylation deficiency 14, 614946 (3)	614946	0	0	FARS2
	00095	COXPD15	Combined oxidative phosphorylation deficiency 15, 614947 (3)	614947	0	0	MTFMT
	00080	COXPD16	Combined oxidative phosphorylation deficiency 16, 615395 (3)	615395	0	0	MRPL44
	00096	COXPD2	Combined oxidative phosphorylation deficiency 2, 610498 (3)	610498	0	0	MRPS16
	00097	COXPD3	Combined oxidative phosphorylation deficiency 3, 610505 (3)	610505	0	0	TSFM
	00098	COXPD4	Combined oxidative phosphorylation deficiency 4, 610678 (3)	610678	0	0	TUFM
	00099	COXPD5	Combined oxidative phosphorylation deficiency 5, 611719 (3)	611719	0	0	MRPS22
	00411	COXPD6	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6	300816	0	0	AIFM1
	00493	COXPD7	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7; COXPD7	613559	0	0	C12orf65
	00076	COXPD8	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8; COXPD8	614096	0	0	AARS2
	00100	COXPD9	Combined oxidative phosphorylation deficiency 9, 614582 (3)	614582	0	0	MRPL3
	00150	CVS	CYCLIC VOMITING SYNDROME; CVS	500007	0	0	MT-TL1
	00465	MTCYB	CYTOCHROME b OF COMPLEX III; MTCYB	516020	0	0	, MT-CYB
	00101	613657	D-2-hydroxyglutaric aciduria 2, 613657 (3)	613657	0	0	IDH2
	00051	580000	DEAFNESS, AMINOGLYCOSIDE-INDUCED;STREPTOMYCIN-INDUCED	580000	0	0	-, MT-CO1, MT-RNR1, TRMU
	00489	DFNB1A	DEAFNESS, AUTOSOMAL RECESSIVE 1A; DFNB1A	220290	0	0	GJB2, GJB3, GJB6
	00159	500008	DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL	500008	0	0	-, MT-ND1, MT-RNR1, MT-TH, MT-TI, MT-TS1
	00404	221745	DEAFNESS, SENSORINEURAL, AUTOSOMAL-MITOCHONDRIAL TYPE	221745	0	0	-
	00165	MIDD	DIABETES AND DEAFNESS, MATERNALLY INHERITED;MIDD	520000	0	0	MT-TE, MT-TK, MT-TL1
	00102	NIDDM	Diabetes mellitus, noninsulin-dependent, 125853 (3)	125853	0	0	ABCC8, AKT2, CAPN10, CDKAL1, ENPP1, GCGR, GCK, GPD2, HMGA1, HNF1B, HNF4A, IGF2BP2, IL6, INSR, IRS1, KCNJ11, LIPC, MAPK8IP1, NEUROD1, PAX4, 7 more
	00164	520100	DIARRHEA, CHRONIC, WITH VILLOUS ATROPHY Links	520100	0	0	-
	00401	614520	ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNEL DEFICIENCY	614520	0	0	-
	00014	614388	Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 (3)	614388	0	0	DNM1L
	00103	EIEE3	Epileptic encephalopathy, early infantile, 3, 609304 (3)	609304	0	0	SLC25A22
	00491	FRDA;FRDA1;FA	FRIEDREICH ATAXIA 1; FRDA;FRIEDREICH ATAXIA WITH RETAINED REFLEXES, INCLUDED; FARR, INCLUDED	229300	0	0	FXN
	00104	603358	GRACILE syndrome, 603358 (3)	603358	0	0	BCS1L
	00105	605911	HMG-CoA synthase-2 deficiency, 605911 (3);MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY	605911	0	0	HMGCS2
	00405	238710	HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCHONDRIA	238710	0	0	-
	00406	LUFT	HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIA;LUFT DISEASE	238800	0	0	-
	00106	238970	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)	238970	0	0	SLC25A15
	00148	500005	HYPOMAGNESEMIA, HYPERTENSION, AND HYPERCHOLESTEROLEMIA, MITOCHONDRIAL, caused by a mutation in the mitochondrial tRNA(Ile) gene (590045). MT-TI	500005	0	0	MT-TI
	00107	612949	Hypomyelination, global cerebral, 612949 (3)	612949	0	0	SLC25A12
	00416	606407	HYPOTONIA-CYSTINURIA SYNDROME	606407	0	0	-
	00108	ICRD	Infantile cerebellar-retinal degeneration, 614559 (3)??mitochondrial?	614559	0	0	ACO2
	00143	KSS	KEARNS-SAYRE SYNDROME, caused by various mitochondrial deletions	530000	0	0	MT-TL1
	00149	LDYT	LEBER OPTIC ATROPHY AND DYSTONIA, alt: LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA; LDYT;; DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES;; MARSDEN SYNDROME	500001	0	0	MT-ND1, MT-ND3, MT-ND4, MT-ND6
	00072	LHON	LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705	535000	0	0	-, MT-ATP6, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND4, MT-ND4L, MT-ND5, MT-ND6
	00492	LOAS	LEBER OPTIC ATROPHY, SUSCEPTIBILITY TO;LHON, MODIFIER OF;LOAS	308905	0	0	-
	00015	LS	Leigh syndrome due to mitochondrial complex 1 deficiency, 256000 (3)	256000	1	0	BCS1L, COX10, COX15, FOXRED1, MT-ATP6, MT-TK, MT-TV, MT-TW, NDUFA10, NDUFA12, NDUFA2, NDUFA9, NDUFAF2, NDUFAF6, NDUFS3, NDUFS4, NDUFS7, NDUFS8, SDHA, SURF1
	00389	LSFC	Leigh syndrome, French-Canadian type, 220111 (3)	220111	0	0	LRPPRC
	00390	308930	Leigh syndrome, X-linked, 308930 (3)	308930	0	0	PDHA1
	00421	HLD4	LEUKODYSTROPHY, HYPOMYELINATING, 4; HLD4	612233	0	0	HSPD1
	00418	611105	LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND	611105	0	0	DARS2
	00494	MSL	LIPOMATOSIS, MULTIPLE SYMMETRIC; MSL	151800	0	0	MFN2
	00110	LFIT	Liver failure, transient infantile, 613070 (3)	613070	0	0	TRMU, TRNT1
	00474	LCHAD	LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY	609016	0	0	, HADHA
	00112	MCPHA	Microcephaly, Amish type, 607196 (3)	607196	0	0	SLC25A19
	00010	615228	Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3)	615228	0	0	ATP5A1
	00011	252010	Mitochondrial complex I deficiency, 252010 (3)	252010	0	0	FOXRED1, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-TN, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, 4 more
	00016	252011	Mitochondrial complex II deficiency, 252011 (3)	252011	0	0	SDHA, SDHAF1
	00017	MC3DN1	Mitochondrial complex III deficiency, nuclear type 1, 124000 (3)	124000	0	0	BCS1L, UQCRB
	00018	MC3DN2	Mitochondrial complex III deficiency, nuclear type 2, 615157 (3)	615157	0	0	TTC19
	00019	MC3DN3	Mitochondrial complex III deficiency, nuclear type 3, 615158 (3)	615158	0	0	, UQCRB
	00020	MC3DN4	Mitochondrial complex III deficiency, nuclear type 4, 615159 (3)	615159	0	0	UQCRQ
	00021	MC3DN5	Mitochondrial complex III deficiency, nuclear type 5, 615160 (3)	615160	0	0	UQCRC2
	00022	MC3DN6	Mitochondrial complex III deficiency, nuclear type 6, 615453 (3)	615453	0	0	CYC1
	00012	220110	Mitochondrial complex IV deficiency, 220110 (3)	220110	2	0	APOPT1, COA5, COX10, COX14, COX20, COX6B1, FASTKD2, MT-CO1, MT-CO2, MT-CO3, MT-TL1, MT-TN, SCO1, SURF1, TACO1
	00023	604273	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3)	604273	0	0	ATPAF2
	00024	614052	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)	614052	0	0	TMEM70
	00025	614053	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3)	614053	0	0	ATP5E
	00026	MTDPS1	Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)	603041	0	0	MT-TK, POLG, TYMP
	00027	MTDPS11	Mitochondrial DNA depletion syndrome 11, 615084 (3)	615084	0	0	MGME1
	00028	MTDPS12	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 (3)	615418	0	0	SLC25A4
	00029	MTDPS13	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type);MTDPS13	615471	0	0	FBXL4
	00030	MTDPS2	Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)	609560	0	0	TK2
	00031	MTDPS3	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)	251880	0	0	C10orf2, DGUOK
	00032	MTDPS4A	Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700	203700	0	0	POLG
	00033	MTDPS4B	Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3)	613662	0	0	POLG
	00034	612073	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)	612073	0	0	SUCLA2
	00035	MTDPS6	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)	256810	0	0	MPV17
	00036	MTDPS7	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)	271245	0	0	C10orf2
	00037	612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)	612075	0	0	RRM2B
	00038	245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3)	245400	0	0	SUCLG1
	00039	MLASA1	Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)	600462	0	0	, PUS1
	00407	251945	MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT	251945	0	0	-
	00146	500002	MITOCHONDRIAL MYOPATHY WITH DIABETES	500002	0	0	, MT-TE
	00408	251950	MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS	251950	0	0	-
	00163	MELAS SYNDROME	MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687	540000	1	2	MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TC, MT-TF, MT-TH, MT-TK, MT-TL1, MT-TQ, MT-TS1, MT-TS2
	00158	MMIT	MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT;MMIT	500009	0	0	MT-TE
	00172	LIMM	MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE	551000	0	0	-
	00400	CPEO,CPEO Plus	MITOCHONDRIAL MYOPATHY: CPEO, CPEO "Plus" DOID:12558, Chronic progressive external ophthalmoplegia	251900	0	0	MT-TA, MT-TL2, MT-TM, MT-TW
	00040	610773	Mitochondrial phosphate carrier deficiency, 610773 (3)	610773	0	0	SLC25A3
	00041	MPYCD	Mitochondrial pyruvate carrier deficiency, 614741 (3)	614741	0	0	MPC1
	00042	SANDO	Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3)	607459	0	0	C10orf2, POLG
	00113	MTS	Mohr-Tranebjaerg syndrome, 304700 (3)	304700	0	0	TIMM8A
	00464	201460	MOVED TO 201475	201460	0	0	ACADVL
	00439	MADD	MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD	231680	0	0	, ETFA, ETFB, ETFDH
	00043	MMDS1	Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)	605711	0	0	NFU1
	00044	MMDS2	Multiple mitochondrial dysfunctions syndrome 2, 614299 (3)	614299	0	0	BOLA3
	00013	MMDS3	Multiple mitochondrial dysfunctions syndrome 3, 615330 (3)	615330	0	0	IBA57
	00415	MDCMC	MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE; MDCMC	602541	0	0	CHKB
	00162	MERRF	MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF SYNDROME	545000	1	0	MT-ND5, MT-TF, MT-TH, MT-TK, MT-TL1, MT-TS1, MT-TS2
	00166	550500	MYOGLOBINURIA, RECURRENT	550500	0	0	MT-CO1
	00409	255140	MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA	255140	0	0	-
	00476	HML	MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY; HML	255125	0	0	ISCU
	00472	MLASA2	MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2; MLASA2	613561	0	0	YARS2
	00045	613076	Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3)	613076	0	0	GFER
	00433	161700	NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT	161700	0	0	-
	00171	551200	NEPHROPATHY, CHRONIC TUBULOINTERSTITIAL	551200	0	0	-
	00422	NBIA4	NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4	614298	0	0	C19orf12
	00392	NF2	Neurofibromatosis, type 2, 101000 (3)	101000	0	0	NF2
	00168	NARP SYNDROME	NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA;NARP SYNDROME	551500	0	0	MT-ATP6
	00485	HSMN6	NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VI; HSMN6	601152	0	0	MFN2
	00114	601665	Obesity, autosomal dominant, 601665 (3)	601665	0	0	-, ADRB2, ADRB3, CARTPT, ENPP1, GHRL, KANK1, LEPR, MC4R, more than 10, MRAP2, MT-CYB, PYY, UCP1, UCP3
	00167	553000	ONCOCYTOMA	553000	0	0	, MT-ND6
	00410	258470	OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHONDRIA	258470	0	0	-
	00073	OPA1	OPTIC ATROPHY 1; OPA1	165500	0	0	OPA1
	00170	556500	PARKINSON DISEASE, MITOCHONDRIAL	556500	0	0	MT-TK, NDUFV2
	00169	557000	PEARSON MARROW-PANCREAS SYNDROME	557000	0	0	-
	00046	261650	PEPCK deficiency, mitochondrial, 261650 (1)	261650	0	0	, PCK2
	00483	PRLTS2	PERRAULT SYNDROME 2; PRLTS2	614926	0	0	HARS2
	00116	PRLTS4	Perrault syndrome 4, 615300 (3)	615300	0	0	LARS2
	00420	PCH6	PONTOCEREBELLAR HYPOPLASIA, TYPE 6; PCH6	611523	0	0	RARS2
	00047	609283	Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 (3)	609283	0	0	SLC25A4
	00048	610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3)	610131	0	0	POLG2
	00074	PEOA3	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3; PEOA3	609286	0	0	C10orf2
	00049	PEOA5	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5, PEOA5	613077	0	0	RRM2B
	00050	PEOA6	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6, PEOA6	615156	0	0	DNA2
	00117	PEOA1	Progressive external ophthalmoplegia, autosomal dominant, 157640 (3)	157640	0	0	POLG
	00118	258450	Progressive external ophthalmoplegia, autosomal recessive, 258450 (3)	258450	0	0	POLG
	00412	600706	PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA	600706	0	0	-
	00398	266150	Pyruvate carboxylase deficiency, 266150 (3)	266150	0	0	PC
	00442	PDHAD	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD	312170	0	0	, PDHA1
	00478	PDHBD	PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY; PDHBD	614111	0	0	PDHB
	00475	PDHDD	PYRUVATE DEHYDROGENASE E2 DEFICIENCY; PDHDD	245348	0	0	DLAT
	00479	PDHLD	PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY; PDHLD	614462	0	0	LIAS
	00477	PDHPD	PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD	608782	0	0	PDP1
	00144	560000	RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA, caused by duplication of mitochondrial DNA	560000	0	0	-
	00119	267500	Reticular dysgenesis, 267500 (3)	267500	0	0	AK2
	00160	500004	RETINITIS PIGMENTOSA-DEAFNESS SYNDROME	500004	0	0	CDH23, CLRN1, DFNB31, GPR98, MT-TS2, MYO7A, PCDH15, USH1C, USH1G, USH2A
	00403	212350	SENGERS SYNDROME	212350	0	0	AGK
	00497	SPG7	SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE; SPG7	607259	0	0	-
	00498	SCA28	SPINOCEREBELLAR ATAXIA 28; SCA28	610246	0	0	AFG3L2
	00157	500003	STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL	500003	0	0	MT-ATP6
	00075	SNDI	STRIATONIGRAL DEGENERATION, INFANTILE; SNDI	271930	0	0	NUP62
	00417	609015	TRIFUNCTIONAL PROTEIN DEFICIENCY	609015	0	0	HADHA, HADHB
	00490	WFS2	WOLFRAM SYNDROME 2; WFS2	604928	0	0	CISD2
	00156	598500	WOLFRAM SYNDROME, MITOCHONDRIAL FORM	598500	0	0	-
	00125	PHN	{Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)	615371	0	0	CPS1