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- Schwartz–Jampel_syndrome abstract "Schwartz–Jampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan, and causing osteochondrodysplasia associated with myotonia.Relationships between the disease and perlecan deficiency have been studied.".
- Schwartz–Jampel_syndrome wikiPageID "42000512".
- Schwartz–Jampel_syndrome wikiPageRevisionID "605019506".
- Schwartz–Jampel_syndrome subject Category:Genetic_disorders.
- Schwartz–Jampel_syndrome subject Category:Rare_diseases.
- Schwartz–Jampel_syndrome subject Category:Skeletal_disorders.
- Schwartz–Jampel_syndrome comment "Schwartz–Jampel syndrome (SJS) is a rare genetic disease caused by a mutation in the HSPG2 gene, which makes the protein perlecan, and causing osteochondrodysplasia associated with myotonia.Relationships between the disease and perlecan deficiency have been studied.".
- Schwartz–Jampel_syndrome label "Schwartz–Jampel syndrome".
- Schwartz–Jampel_syndrome sameAs Schwartz%E2%80%93Jampel_syndrome.
- Schwartz–Jampel_syndrome sameAs Q15771395.
- Schwartz–Jampel_syndrome sameAs Q15771395.
- Schwartz–Jampel_syndrome wasDerivedFrom Schwartz–Jampel_syndrome?oldid=605019506.