Search Ontology:
Human Disease

Jansen's metaphyseal chondrodysplasia

Term ID
DOID:0080020
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. (2)
References
  • MIM:156400
Ontology
Human Disease   ( DOID:0080020 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models
Citations