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bn:03689485n
Noun Concept
JA
No term available
EN
Jansen's metaphyseal chondrodysplasia is a disease that results from ligand-independent activation of the type 1 of the parathyroid hormone receptor, due to one of three reported mutations. Wikipedia
Relations
Sources
IS A
希少疾患
遺伝子疾患
骨幹端異形成症
GENETIC ASSOCIATION
副甲状腺ホルモン受容体
HAS PHENOTYPE
骨幹端異形成症

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