Term Name: Jansen's metaphyseal chondrodysplasia
Synonyms: Jansen Disease, Jansen metaphyseal chondrodysplasia, Jansen Metaphyseal Dysostosis, Murk Jansen Type Metaphyseal Chondrodysplasia
Definition: A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.
Ontology: Human Disease [DOID:0080020]   ( DOID:0080020 )

Relationships
is a type of: autosomal dominant disease metaphyseal dysplasia