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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, AGPS deficiency, RCDP3
Echinobase Genes
:
agps
| MIM:600121 - rhizomelic chondrodysplasia punctata, type 3; rcdp3 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
rhizomelic chondrodysplasia punctata (is_a)