Metadata | |
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ID | DOID:0080020 |
Name | Jansen's metaphyseal chondrodysplasia |
Definition | A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. http://en.wikipedia.org/wiki/Jansen%27s_metaphyseal_chondrodysplasia, http://www.healthline.com/galecontent/metaphyseal-dysplasia-1/2#jansentype |
Xrefs | |
Synonyms |
Jansen Disease [EXACT] Jansen metaphyseal chondrodysplasia [EXACT] Jansen Metaphyseal Dysostosis [EXACT] Murk Jansen Type Metaphyseal Chondrodysplasia [EXACT] |
Parent Relationships |