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Summary Literature (0)
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 Metaphyseal Dysostosis, Murk Jansen Type Metaphyseal Chondrodysplasia, Jansen metaphyseal chondrodysplasia, Jansen Disease

Xenbase Genes : pth1r

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007982 - metaphyseal chondrodysplasia, Jansen type


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view
Parent(s): autosomal dominant disease (is_a), metaphyseal dysplasia (is_a)