You are using an outdated browser. Please upgrade your browser to improve your experience.

metaphyseal chondrodysplasia, Jansen type

Disease Summary
Associated Targets (1)
Tclin

1


Explore Associated Targets
Mondo Description Jansen's metaphyseal chondrodysplasia (JMC) is a very rare autosomal dominant skeletal dysplasia characterized by short-limbed short stature (due to severe metaphyseal changes that are often discovered in childhood by imaging), waddling gait, bowed legs, contracture deformities of the joints, short hands with clubbed fingers, clinodactyly, prominent upper face and small mandible, as well as chronic parathyroid hormone-independent hypercalcemia, hypercalciuria, and mild hypophosphatemia.
Uniprot Description Rare autosomal dominant disorder characterized by a short-limbed dwarfism associated with hypercalcemia and normal or low serum concentrations of the two parathyroid hormones.
Disease Ontology Description A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism.
Mondo Term and Equivalent IDs
MONDO:0007982:  metaphyseal chondrodysplasia, Jansen type
GARD:0000079: 
MESH:C537564: 
NCIT:C131868: 
Orphanet:33067: 
SCTID:24629003: 
UMLS:C0265295: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)