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 )
Relationships
is a type of:
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
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.