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DOID:0080020 - Jansen's metaphyseal chondrodysplasia
Disease Ontology Definition:A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.
Synonyms: Jansen Disease, Jansen Metaphyseal Dysostosis, Jansen metaphyseal chondrodysplasia, Murk Jansen Type Metaphyseal Chondrodysplasia,
Xenbase Genes
:
pth1r
| MONDO:0007982 - metaphyseal chondrodysplasia, Jansen type |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
metaphyseal dysplasia (is_a)