eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | myopathy |
| Comorbidity | C0013720|ehlers-danlos syndrome |
| Sentences | 2 |
| PubMedID- 22265013 | Mutations in fkbp14 cause a variant of ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. |
| PubMedID- 25111118 | The created databases include acad8 (isobutyryl-coa dehydrogenase deficiency (ibd)), acadsb (short-chain acyl-coa dehydrogenase (scad) deficiency), auh (3-methylglutaconic aciduria (3-mgca)), dhcr7 (smith-lemli-opitz syndrome), hmgcs2 (3-hydroxy-3-methylglutaryl-coa synthase 2 deficiency), hsd17b10 (17-beta-hydroxysteroid dehydrogenase x deficiency), fkbp14 (ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss; edskmh) and rogdi (kohlschutter-tonz syndrome). |
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