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Summary Literature (0)
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,

Xenbase Genes : gnpat, agps, far1, pex5, pex7

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0015776 - rhizomelic chondrodysplasia punctata


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), chondrodysplasia punctata (is_a)