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,

Echinobase Genes : agps


OMIM:

MIM:600121 - rhizomelic chondrodysplasia punctata, type 3; rcdp3

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

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