Disease Matrix Disease Matrix

Disease Name Number of Patients, Donors Gene ORPHA Code ICD 10 OMIM Synonym(s)
Steinert myotonic dystrophy (Myotonic dystrophy, type 1) 15 ORPHA273 G71.1 160900
Myotonia congenita;Thomsen and Becker disease 3 ORPHA614 G71.1 255700
Congenital muscular dystrophy type 1A 3 ORPHA258 G71.2 607855
Isolated mitochondrial respiratory chain complex IV deficiency 4 ORPHA254905 G71.3 220110
Isolated CoQ-cytochrome C reductase deficiency;Isolated mitochondrial respiratory chain complex III deficiency 7 ORPHA1460 G71.3 124000 ; 615157 ; 615158 ; 615159 ; 615160 ; 615453 ; 615824 ; 615838 ;

ICD 10 Categories

Disease Areas (ICD10)

Neoplasms (C00-D48)

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism (D50-D89)

Endocrine, nutritional and metabolic diseases (E00-E90)

Mental and behavioural disorders (F00-F99)

Diseases of the nervous system (G00-G99)

Diseases of the eye and adnexa (H00-H59)

Diseases of the circulatory system (I00-I99)

Diseases of the respiratory system (J00-J99)

Diseases of the digestive system (K00-K93)

Diseases of the skin and subcutaneous tissue (L00-L99)

Diseases of the musculoskeletal system and connective tissue (M00-M99)

Diseases of the genitourinary system (N00-N99)

Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)

External causes of morbidity and mortality (V01-Y98)