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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


In Mondo Disease Ontology:
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
Parent(s): autosomal recessive disease (is_a), chondrodysplasia punctata (is_a)