rhizomelic chondrodysplasia punctata type 3 (DOID:0110853)
Alliance: disease page
Synonyms: Agps Deficiency; Alkyldihydroxyacetonephosphate Synthase Deficiency; Alkylglycerone-Phosphate Synthase Deficiency; Rcdp3
Alt IDs: OMIM:600121, ICD10CM:Q77.3, MESH:C537608, ORDO:309803
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.