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bn:03689485n
Noun Concept
SYL
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
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IS A
EN
rare disease
EN
genetic disease
EN
Metaphyseal dysplasia
GENETIC ASSOCIATION
EN
Parathyroid hormone 1 receptor
HAS PHENOTYPE
EN
Metaphyseal dysplasia

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