All diseases

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4 entries on 1 page. Showing entries 1 - 4.

ID	Abbreviation	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	-	-
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	-	-