DOID:2580 - rhizomelic chondrodysplasia punctata
Disease Ontology Definition:A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity.
Synonyms: Chondrodysplasia Punctata, Rhizomelic Form
|MONDO:0015776 - rhizomelic chondrodysplasia punctata|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : gnpat, agps, pex5, pex7
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD