All diseases

183 entries on 2 pages. Showing entries 1 - 100.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00433 161700 NECROTIZING ENCEPHALOMYELOPATHY, SUBACUTE, OF LEIGH, ADULT 161700 0 0 - - -
00464 201460 MOVED TO 201475 201460 0 0 ACADVL - -
00402 203750 ALPHA-METHYLACETOACETIC ACIDURIA 203750 0 0 ACAT1 - -
00438 212160 CARNITINE DEFICIENCY, MYOPATHIC 212160 0 0 - - -
00403 212350 SENGERS SYNDROME 212350 0 0 AGK - -
00012 220110 Mitochondrial complex IV deficiency, 220110 (3) 220110 1 0 APOPT1, COA5, COX10, COX14, COX20, COX6B1, FASTKD2, MT-CO1, MT-CO2, MT-CO3, MT-TL1, MT-TN, SCO1, SURF1, TACO1 - -
00404 221745 DEAFNESS, SENSORINEURAL, AUTOSOMAL-MITOCHONDRIAL TYPE 221745 0 0 - - -
00085 237300 Carbamoylphosphate synthetase I deficiency;CPS I DEFICIENCY 237300 0 0 CPS1 - -
00405 238710 HYPERLYSINEMIA DUE TO DEFECT IN LYSINE TRANSPORT INTO MITOCHONDRIA 238710 0 0 - - -
00106 238970 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3) 238970 0 0 SLC25A15 - -
00038 245400 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3) 245400 0 0 SUCLG1 - -
00407 251945 MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT 251945 0 0 - - -
00408 251950 MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS 251950 0 0 - - -
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 - -
00486 255110 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET 255110 0 0 CPT2 - -
00440 255120 CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY 255120 0 0 -, CPT1A - -
00409 255140 MYOPATHY WITH GIANT ABNORMAL MITOCHONDRIA 255140 0 0 - - -
00118 258450 Progressive external ophthalmoplegia, autosomal recessive, 258450 (3) 258450 0 0 POLG - -
00410 258470 OPHTHALMOPLEGIC NEUROMUSCULAR DISORDER WITH ABNORMAL MITOCHONDRIA 258470 0 0 - - -
00046 261650 PEPCK deficiency, mitochondrial, 261650 (1) 261650 0 0 , PCK2 - -
00398 266150 Pyruvate carboxylase deficiency, 266150 (3) 266150 0 0 PC - -
00119 267500 Reticular dysgenesis, 267500 (3) 267500 0 0 AK2 - -
00390 308930 Leigh syndrome, X-linked, 308930 (3) 308930 0 0 PDHA1 - -
00151 500000 CARDIOMYOPATHY, INFANTILE HISTIOCYTOID 500000 0 0 MT-CYB - -
00146 500002 MITOCHONDRIAL MYOPATHY WITH DIABETES 500002 0 0 , MT-TE - -
00157 500003 STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL 500003 0 0 MT-ATP6 - -
00160 500004 RETINITIS PIGMENTOSA-DEAFNESS SYNDROME 500004 0 0 CDH23, CLRN1, DFNB31, GPR98, MT-TS2, MYO7A, PCDH15, USH1C, USH1G, USH2A - -
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 - -
00159 500008 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 500008 0 0 -, MT-ND1, MT-RNR1, MT-TH, MT-TI, MT-TS1 - -
00147 502000 AGING aging represents a phenotype seemingly related to changes in mitochondrial DNA 502000 0 0 - - -
00161 502500 ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL 502500 0 0 - - -
00145 515000 CHLORAMPHENICOL TOXICITY;ANEMIA, CHLORAMPHENICOL-INDUCED;CHLORAMPHENICOL RESISTANCE, INCLUDED 515000 0 0 , MT-RNR2 - -
00164 520100 DIARRHEA, CHRONIC, WITH VILLOUS ATROPHY Links 520100 0 0 - - -
00166 550500 MYOGLOBINURIA, RECURRENT 550500 0 0 MT-CO1 - -
00171 551200 NEPHROPATHY, CHRONIC TUBULOINTERSTITIAL 551200 0 0 - - -
00167 553000 ONCOCYTOMA 553000 0 0 , MT-ND6 - -
00170 556500 PARKINSON DISEASE, MITOCHONDRIAL 556500 0 0 MT-TK, NDUFV2 - -
00169 557000 PEARSON MARROW-PANCREAS SYNDROME 557000 0 0 - - -
00144 560000 RENAL TUBULOPATHY, DIABETES MELLITUS, AND CEREBELLAR ATAXIA, caused by duplication of mitochondrial DNA 560000 0 0 - - -
00051 580000 DEAFNESS, AMINOGLYCOSIDE-INDUCED;STREPTOMYCIN-INDUCED 580000 0 0 -, MT-CO1, MT-RNR1, TRMU - -
00156 598500 WOLFRAM SYNDROME, MITOCHONDRIAL FORM 598500 0 0 - - -
00412 600706 PROXIMAL MYOPATHY WITH FOCAL DEPLETION OF MITOCHONDRIA 600706 0 0 - - -
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 - -
00104 603358 GRACILE syndrome, 603358 (3) 603358 0 0 BCS1L - -
00023 604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 (3) 604273 0 0 ATPAF2 - -
00089 605814 Citrullinemia, type II, neonatal-onset, 605814 (3) 605814 0 0 SLC25A13 - -
00499 605899 GCE GLYCINE ENCEPHALOPATHY; GCE 605899 0 0 GLDC - -
00105 605911 HMG-CoA synthase-2 deficiency, 605911 (3);MITOCHONDRIAL HMG-CoA SYNTHASE DEFICIENCY 605911 0 0 HMGCS2 - -
00416 606407 HYPOTONIA-CYSTINURIA SYNDROME 606407 0 0 - - -
00487 608836 CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL 608836 0 0 CPT2 - -
00417 609015 TRIFUNCTIONAL PROTEIN DEFICIENCY 609015 0 0 HADHA, HADHB - -
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 - -
00081 610251 Alcohol sensitivity, acute, 610251 (3) 610251 0 0 ALDH2 - -
00040 610773 Mitochondrial phosphate carrier deficiency, 610773 (3) 610773 0 0 SLC25A3 - -
00418 611105 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND 611105 0 0 DARS2 - -
00419 611126 ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF 611126 0 0 ACAD9 - -
00034 612073 Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3) 612073 0 0 SUCLA2 - -
00037 612075 Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3) 612075 0 0 RRM2B - -
00107 612949 Hypomyelination, global cerebral, 612949 (3) 612949 0 0 SLC25A12 - -
00045 613076 Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3) 613076 0 0 GFER - -
00101 613657 D-2-hydroxyglutaric aciduria 2, 613657 (3) 613657 0 0 IDH2 - -
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 - -
00014 614388 Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388 (3) 614388 0 0 DNM1L - -
00401 614520 ENCEPHALOMYOPATHY, MITOCHONDRIAL, DUE TO VOLTAGE-DEPENDENT ANION CHANNEL DEFICIENCY 614520 0 0 - - -
00010 615228 Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3) 615228 0 0 ATP5A1 - -
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 - -
00084 BJS Bjornstad syndrome, 262000 (3) 262000 0 0 BCS1L - -
00399 BTHS BARTH SYNDROME; BTHS 302060 0 0 TAZ - -
00437 CACTD CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY;CACTD 212138 0 0 SLC25A20 - -
00444 CCDS3 CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3 612718 0 0 GATM - -
00473 CDSP CARNITINE DEFICIENCY, SYSTEMIC PRIMARY; CDSP 212140 0 0 SLC22A5 - -
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 - -
00488 CMT2A2 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2; CMT2A2 609260 0 0 MFN2 - -
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 - -
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 - -
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 - -
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