rhizomelic chondrodysplasia punctata type 3
Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.
MONDO:0015776
rhizomelic chondrodysplasia punctata
is_a
MONDO:0100274
alkylglycerone-phosphate synthase deficiency
is_a
AGPS deficiency
broad
AGPS rhizomelic chondrodysplasia punctata
exact
RCDP3
exact
alkyldihydroxyacetonephosphate synthase deficiency
broad
alkylglycerone-phosphate synthase deficiency
broad
rhizomelic chondrodysplasia punctata caused by mutation in AGPS
exact
rhizomelic chondrodysplasia punctata type 3
exact
rhizomelic chondrodysplasia punctata, type 3
related