Term Name: | Jansen's metaphyseal chondrodysplasia |
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Synonyms: | Jansen Disease, Jansen metaphyseal chondrodysplasia, Jansen Metaphyseal Dysostosis, Murk Jansen Type Metaphyseal Chondrodysplasia |
Definition: | A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. |
Ontology: | Human Disease [DOID:0080020] ( DOID:0080020 ) |