Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
Reccurrent myoglobinuria, autosomal recessive (9.28) | 268200 | |
Recessive congenital myopathy with minicores (3.35, 3.34) | ||
Recessive neonatal isolated DC (10.68) | ||
Refsum disease, adult (13.95) | 266500 | |
Refsum disease, adult (13.96) | 266500 | |
Restrictive cardiomyopathy, 2 (10.86) | 609578 | ? - (10) |
restrictive dermopathy (1.4, 1.26, 1.5, 10.37, 2.17, 14.77) | 275210 | |
Rigid spine syndrome (1.3, 5.25, 5.26, 5.27) | 602771 | |
Rigid spine syndrome (2.13, 5.12, 3.16, 3.32) | 602771 | |
Rigid spine syndrome related to FHL1 (1.3, 5.25, 5.26, 5.27) | ||
Rigid spine syndrome related to SEPN1 (2.13, 5.12, 3.16, 3.32) | ||
Rimmed vacuole myopathy (14.57, 12.17, 4.24, 4.26) | ||
Rippling muscle disease (1.27, 6.6, 5.24, 6.7, 4.13, 10.132, 10.16) | 606072 | |
Rippling muscle disease, dominant (6.5) | 600332 | ? - (1q41) |
Romano-Ward syndrome (10.143, 10.123, 10.147, 10.141) | 192500 |