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bn:15080678n
Noun Concept
JA
No term available
EN
Schwartz–Jampel syndrome is a rare genetic disease caused by a mutation in the perlecan gene which causes osteochondrodysplasia associated with myotonia. Wikipedia
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Sources
IS A
希少疾患
トムゼン病
症候群
軟骨異形成
EN
autosomal recessive disease
GENETIC ASSOCIATION
パーレカン
HEALTH SPECIALTY
神経学

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