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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, AGPS deficiency, Alkyldihydroxyacetonephosphate Synthase Deficiency, Alkylglycerone-Phosphate Synthase Deficiency, Rcdp3, RCDP3
Xenbase Genes
:
agps
| MONDO:0010823 - rhizomelic chondrodysplasia punctata type 3 |
| 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)