Summary Literature (0)

DOID:0110853 - rhizomelic chondrodysplasia punctata type 3

Disease Ontology Definition:A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2.

Synonyms: Agps Deficiency, Alkyldihydroxyacetonephosphate Synthase Deficiency, Alkylglycerone-Phosphate Synthase Deficiency, Rcdp3,

Xenbase Genes : agps

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010823 - rhizomelic chondrodysplasia punctata type 3

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee