has material basis in germline mutation in disease has feature PTH1R Disproportionate short-limb short stature Metaphyseal dysplasia syndromic disease osteochondrodysplasia metaphyseal chondrodysplasia, Jansen type https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/metaphyseal_chondrodysplasia_jansen_type GARD:0000079 Jansen type metaphyseal chondrodysplasia DOID:0080020 NORD:1307 metaphyseal chondrodysplasia murk Jansen type MONDO:0007982 OMIM:156400 MESH:C537564 Jansen Type Metaphyseal Chondrodysplasia icd11.foundation:1652660420 Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia. murk Jansen type metaphyseal chondrodysplasia Orphanet:33067 NCIT:C131868 UMLS:C0265295 metaphyseal chondrodysplasia, murk Jansen type MEDGEN:120529 SCTID:24629003 metaphyseal chondrodysplasia, Jansen type Pyle disease