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Metadata
ID DOID:0080020
Name Jansen's metaphyseal chondrodysplasia
Definition A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.
http://en.wikipedia.org/wiki/Jansen%27s_metaphyseal_chondrodysplasia, http://www.healthline.com/galecontent/metaphyseal-dysplasia-1/2#jansentype
Xrefs

OMIM:156400

Synonyms

Jansen Disease [EXACT]

Jansen metaphyseal chondrodysplasia [EXACT]

Jansen Metaphyseal Dysostosis [EXACT]

Murk Jansen Type Metaphyseal Chondrodysplasia [EXACT]

Parent Relationships

is_a metaphyseal dysplasia

is_a autosomal dominant disease

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