OBO ID: DOID:0080020
Term Name: Jansen's metaphyseal chondrodysplasia Search Ontology:
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:
Ontology: Human Disease   (DOID:0080020)
OTHER Jansen's metaphyseal chondrodysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PTH1R Metaphyseal chondrodysplasia, Murk Jansen type 156400
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None