Disease Matrix Disease Matrix

Disease Name Number of Patients, Donors Gene ORPHA Code ICD 10 OMIM Synonym(s)
Duchenne muscular dystrophy DMD ORPHA 98896 G71.0 #310200 Severe dystrophinopathy, Duchenne type
Becker muscular dystrophy DMD ORPHA98895 G71.0 # 159050 # 300376 BMD,Becker dystrophinopathy
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers ORPHA 206546 G71.0
Spinal muscular atrophy,type I SMN1 ORPHA70 G12.0 G12.1 #253300 SMA, Infantile Acute Form Muscular Atrophy, Infantile Werdnig-Hoffmann Disease
Spinal muscular atrophy,type II SMN1 ORPHA83418 G12.1 #253550 Chronic infantile spinal muscular atrophy Chronic spinal muscular atrophy Intermediate spinal muscular atrophy