Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
Reccurrent myoglobinuria, autosomal recessive (9.28) | 268200 | |
Recessive neonatal isolated DC (10.71) | ||
Refsum disease, adult (13.103) | 266500 | |
Refsum disease, adult (13.104) | 266500 | |
Restrictive cardiomyopathy, 2 (10.97) | 609578 | ? - (10) |
Restrictive cardiomyopathy, 6 (10.101) | 619433 | |
restrictive dermopathy (1.3, 1.4, 10.40, 2.17, 14.88) | 275210 | |
Rigid spine syndrome (1.7, 5.31, 5.32, 5.33) | 602771 | |
Rigid spine syndrome (2.13, 5.13, ) | 602771 | |
Rigid spine syndrome related to FHL1 (1.7, 5.31, 5.32, 5.33) | ||
Rigid spine syndrome related to SEPN1 (2.13, 5.13, ) | ||
Rimmed vacuole myopathy (14.65, 12.25, 4.27, 4.28) | ||
Rippling muscle disease (1.23, 6.6, 5.30, 6.7, 4.12, 10.144, 10.16) | 606072 | |
Rippling muscle disease, dominant (6.5) | 600332 | ? - (1q41) |
Romano-Ward syndrome (10.156, 10.136, 10.160, 10.154) | 192500 |