Disease Matrix Disease Matrix

Disease Name Number of Patients, Donors Gene ORPHA Code ICD 10 OMIM Synonym(s)
Pyruvate dehydrogenase E3-binding protein deficiency 2 Pyruvate dehydrogenase E3-binding protein deficiency ORPHA255182 E74.4 #245349
Pyruvate dehydrogenase E3-binding protein deficiency 2 Pyruvate dehydrogenase E3-binding protein deficiency ORPHA255182 E74.4 #245349
Isolated mitochondrial respiratory chain complex I deficiency 78 Mitochondrial complex I deficiency ORPHA2609 G71.3 #252010
Isolated mitochondrial respiratory chain complex I deficiency 42 Mitochondrial complex I deficiency ORPHA2609 G71.3 #252010
Isolated mitochondrial respiratory chain complex I deficiency 4 Mitochondrial complex I deficiency; MTND1 ORPHA123537 G71.3 #252010/ *516000
Isolated mitochondrial respiratory chain complex I deficiency 3 Mitochondrial complex I deficiency; MTND1 ORPHA123537 G71.3 #252010/ *516000
Isolated mitochondrial respiratory chain complex I deficiency 7 Mitochondrial complex I deficiency; MTND23 ORPHA123547 G71.3 #252010/ *516002
Isolated mitochondrial respiratory chain complex I deficiency 5 Mitochondrial complex I deficiency; MTND3 ORPHA123547 G71.3 #252010/ *516002
Isolated mitochondrial respiratory chain complex I deficiency 1 Mitochondrial complex I deficiency; MTND4 ORPHA123552 G71.3 #252010/ *516003
Isolated mitochondrial respiratory chain complex I deficiency 1 Mitochondrial complex I deficiency; MTND4 ORPHA123552 G71.3 #252010/ *516003

ICD 10 Categories

Disease Areas (ICD10)