Disease Matrix Disease Matrix

Disease Name Number of Patients, Donors Gene ORPHA Code ICD 10 OMIM Synonym(s)
Progressive external ophthalmoplegia 5 ORPHA663 H49.4 248700
Muscular dystrophy, Duchenne type 584 ORPHA98896 G71.0 310200
Muscular dystrophy, Becker type 197 ORPHA98895 G71.0 310100
Facioscapulohumeral muscular dystrophy 226 ORPHA269 G71.0 158900
Glycogen storage disease due to acid maltase deficiency 8 GAA ORPHA365 E74.0 232300 LOPED
Glycogen storage disease due to glycogen debranching enzyme deficiency 3 ORPHA366 E74.0 232400
Spastic paraplegia autosomal recessive type 7and autosomal dominant type 4 (SPG4) 13 ORPHA100985 G11.4 182601
Autosomal dominant limb-girdle muscular dystrophy type 1B 18 ORPHA264 G71.0 159001
Autosomal dominant limb-girdle muscular dystrophy type 1C 6 ORPHA265 G71.0 607801
Autosomal recessive limb girdle muscular dystrophy type 2A 106 ORPHA267 G71.0 253600
Autosomal recessive limb-girdle muscular dystrophy type 2B 46 ORPHA268 G71.0 253601
Autosomal recessive limb-girdle muscular dystrophy type 2C 36 ORPHA353 G71.0 253700
Autosomal recessive limb-girdle muscular dystrophy type 2D 14 ORPHA62 G71.0 608099
Autosomal recessive limb-girdle muscular dystrophy type 2E 7 ORPHA119 G71.0 608099
Autosomal recessive limb-girdle muscular dystrophy type 2F 16 ORPHA219 G71.0 608099
Autosomal recessive limb-girdle muscular dystrophy type 2I 40 ORPHA34515 G71.0 607155
Autosomal recessive limb-girdle muscular dystrophy type 2H 9 ORPHA1878 G71.0 254110
Autosomal recessive limb-girdle muscular dystrophy type 2L 6 ORPHA206549 G71.0 611307
Autosomal recessive limb-girdle muscular dystrophy type 2N 9 ORPHA206559 G71.0 613158
Limb-girdle muscular dystrophy 28 ORPHA263 G71.0 253600
Emery-Dreifuss muscular dystrophy 35 ORPHA261 G71.0 310300
Myotonic dystrophy type 1 192 ORPHA273 G71.1 160900
X-linked myotubular myopathy 7 ORPHA596 G71.2 310400
Myotonia congenita 9 ORPHA614 G71.1 160800
Friedreich ataxia 8 ORPHA95 G11.1 229300
Polymyositis 3 ORPHA732 M33.2 732
Charcot-Marie-Tooth disease (CMT) 7 ORPHA64746 G60.0 118200
Charcot-Marie-Tooth disease (CMT) 6 ORPHA64746 G60.0 302045
Juvenile spinal muscular atrophy 134 ORPHA83419 G12.1 253400
Kennedy disease 11 ORPHA481 G12.1 313200
Ullrich disease 3 ORPHA75840 G71.2 120220
Lesch-Nyhan syndrome 6 ORPHA510 E79.1 300322
Malignant hyperthermia 6 ORPHA423 T88.3 145600
Myotonia congenita 5 ORPHA614 G71.1 255700
Bethlem myopathy 7 ORPHA610 G71.2 120220
Tubular aggregate myopathy 1 ORPHA2593 G71.3 160565
Desminopathy 10 ORPHA98909 G71.8 601419
Amyotrophic lateral sclerosis 3 ORPHA803 G12.2 105400
cerebellar ataxias 1 ORPHA99 G11.8 212800
Lipid storage myopathy 9 ORPHA206953 G73.6 255100
Kaposi's sarcoma 1 ORPHA33276 C46 148000
Autosomal dominant polycystic kidney disease 10 ORPHA730 Q61.2 173900
Hypokalemic periodic paralysis 19 ORPHA681 G72.3 170400
CPTII 3 ORPHA157 E71.3 212160
Freeman-Sheldon syndrome 3 ORPHA2053 Q87 193700
Fechtner syndrome 4 ORPHA1984 D69.4 153640
Brugada syndrome 39 ORPHA130 I49.0 601144
Familial or idiopathic dilated cardiomyopathy 15 ORPHA154 I42.0 115200
X-L dilated cardiomyopathy 10 ORPHA154 I42.0 302045
Hypertrophic obstructive cardiomyopathy 29 ORPHA155 I42.1 192600
Familial or idiopathic dilated cardiomyopathy 20 ORPHA154 I42 107970
Ehlers-Danlos syndrome type 3 5 ORPHA285 Q79.6 130020

ICD 10 Categories

Disease Areas (ICD10)