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Jansen's metaphyseal chondrodysplasia
Summary
- Synonym
-
- Jansen Disease
- Jansen Metaphyseal Dysostosis
- Jansen metaphyseal chondrodysplasia
- Murk Jansen Type Metaphyseal Chondrodysplasia
- Definition
- A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.
- Super Class
- autosomal dominant disease metaphyseal dysplasia
External Links
- Disease Ontology
- DOID:0080020
- Mondo Disease Ontology
- OMIM
- WikiPathways (from TogoID)
Related Genes
