Jansen's metaphyseal chondrodysplasia Disease Ontology Browser

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Disease Ontology Browser

Jansen's metaphyseal chondrodysplasia (DOID:0080020)
Alliance: disease page
Synonyms: Jansen Disease; Jansen metaphyseal chondrodysplasia; Jansen Metaphyseal Dysostosis; Murk Jansen Type Metaphyseal Chondrodysplasia
Alt IDs: OMIM:156400
Definition: A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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