Term Name:	rhizomelic chondrodysplasia punctata type 3
Synonyms:	AGPS deficiency, Alkyldihydroxyacetonephosphate Synthase Deficiency, Alkylglycerone-Phosphate Synthase Deficiency, RCDP3
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.
Ontology:	Human Disease [DOID:0110853]   ( DOID:0110853 )