All diseases

5 entries on 1 page. Showing entries 1 - 5.

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
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, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, 7 more - -
00159 500008 DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL 500008 0 0 , MT-ND1, MT-RNR1, MT-TH, MT-TI, MT-TS1 - -
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 - -
00163 MELAS SYNDROME MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687 540000 1 1 MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TC, MT-TF, MT-TH, MT-TK, MT-TL1, MT-TQ, MT-TS1, MT-TS2 - -