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DO Term : Jansen's metaphyseal chondrodysplasia [DOID:0080020] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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 Disease,
OMIM:156400,
156400,
Jansen metaphyseal chondrodysplasia

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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