Schwartz–Jampel syndrome
Schwartz–Jampel syndrome (SJS) is a rare genetic disease caused by a mutation in the perlecan gene (HSPG2) which causes osteochondrodysplasia associated with myotonia. Most people with Schwartz–Jampel syndrome have a nearly normal life expectancy.
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Schwartz–Jampel syndrome
Schwartz–Jampel syndrome (SJS) is a rare genetic disease caused by a mutation in the perlecan gene (HSPG2) which causes osteochondrodysplasia associated with myotonia. Most people with Schwartz–Jampel syndrome have a nearly normal life expectancy.
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Das Schwartz-Jampel-Syndrom (S ...... . Aberfeld aus dem Jahre 1979.
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Schwartz–Jampel syndrome (SJS) ...... nearly normal life expectancy.
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Zespół Schwartza-Jampela (ang. ...... Aberfelda i wsp. w 1965 roku.
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Το σύνδρομο Σβαρτς-Γιάμπελ (αγ ...... ν φυσιολογικό προσδόκιμο ζωής.
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متلازمة شوارتز-جامبل هي مرض ور ...... جامبل لديهم عمر متوقع تقريبا.
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ICD10
G71.1 Q78.8
OMIM id
Wikipage page ID
42,000,512
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984,576,442
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Schwartz–Jampel syndrome is inherited in an autosomal recessive manner.
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field
orthopedic
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ICD
G71.1 Q78.8
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name
Schwartz–Jampel syndrome
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OMIM
Orphanet
synonyms
Myotonic myopathy, dwarfism, c ...... epiphysaria, Catel-Hempel type
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Das Schwartz-Jampel-Syndrom (S ...... o-chondro-muskuläre Dystrophie
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Schwartz–Jampel syndrome (SJS) ...... nearly normal life expectancy.
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Zespół Schwartza-Jampela (ang. ...... jako zespół Stüve-Wiedemanna.
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Το σύνδρομο Σβαρτς-Γιάμπελ (αγ ...... ν φυσιολογικό προσδόκιμο ζωής.
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متلازمة شوارتز-جامبل هي مرض ور ...... جامبل لديهم عمر متوقع تقريبا.
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label
Schwartz-Jampel-Syndrom
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Schwartz–Jampel syndrome
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Zespół Schwartza-Jampela
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Σύνδρομο Σβαρτς-Γιάμπελ
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متلازمة شوارتز-جامبل
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name
Schwartz–Jampel syndrome
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