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ENMetaphyseal Chondrodysplasia, Jansen Type (MCDJ)
Alias:
Metaphyseal Chondrodysplasia, Murk Jansen Type
Jansen's Metaphyseal Chondrodysplasia
Jansen Type Metaphyseal Chondrodysplasia
Mcdj
Chondrodysplasia, Metaphyseal, Murk Jansen Type
Murk Jansen Type Metaphyseal Chondrodysplasia
Jansen Metaphyseal Chondrodysplasia
Jansen Metaphyseal Dysostosis
Jansen Disease
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Metaphyseal Chondrodysplasia, Jansen Type, also known as metaphyseal chondrodysplasia, murk jansen type, is related to hypercalcemia, infantile, 1 and nephrolithiasis, and has symptoms including waddling gait An important gene associated with Metaphyseal Chondrodysplasia, Jansen Type is PTH1R (Parathyroid Hormone 1 Receptor), and among its related pathways/superpathways are Signal Transduction and Vitamin D receptor pathway. Affiliated tissues include bone and kidney, and related phenotypes are osteopenia and hearing impairment
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