Disease Matrix Disease Matrix

Disease Name Number of Patients, Donors Gene ORPHA Code ICD 10 OMIM Synonym(s)
LHON 183 Leber Hereditary Optic Atrophy (LHON);LHON11778A; MTND4 ORPHA104 H47.2 *516003
LHON 43 Leber Hereditary Optic Atrophy (LHON); LHON3460A; MTND1 ORPHA104 H47.2 *516000
LHON 19 Leber Hereditary Optic Atrophy (LHON); LHON14484C; *516006 ORPHA104 H47.2 *516006
MELAS 69 Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes; MELAS; MELAS3243G; MTTL1 ORPHA550 G71.3 *590050
MELAS 2 Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes; MELAS; MELAS3243G; MTTL1 ORPHA550 G71.3 *590050
MERRF 37 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF; MERRF8344G; MTTK ORPHA551 G71.3 #545000/ *590060
MERRF 1 MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF; MERRF8344G; MTTK ORPHA551 G71.3 #545000/ *590060
NARP syndrome 20 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA; NARP8933G; MTATP6 ORPHA644 G31.8 #551500/ *516060
NARP syndrome 5 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA; NARP8933G; MTATP6 ORPHA644 G31.8 #551500/ *516060
NARP syndrome 2 NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA; NARP8933C; MTATP6 ORPHA644 G31.8 #551500/ *516060

ICD 10 Categories

Disease Areas (ICD10)