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H00519
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Spondyloepiphyseal dysplasia congenita
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... type (SEDS) are not short, although spondylar and epiphyseal abnormalities are radiologically quite conspicuous. Mutations in COL2A1 that encodes the alpha-1 chain of type II collagen, cause these diseases
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Congenital malformation
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COL2A1 [HSA:1280] [KO:K19719]
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H01729
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Premature ventricular complexes
Premature ventricular contractions
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... presence of symptoms, interference with other therapy (e.g., cardiac resynchronization therapy), or suspicion of PVC-mediated cardiomyopathy. When necessary, treatment for PVCs involves beta-blockers, calcium ...
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Cardiovascular disease
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