All diseases

OMIM ID
222765
OMIM term:
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2
Alternative terms:
DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY
DHAPAT DEFICIENCY
GLYCERONEPHOSPHATE O-ACYLTRANSFERASE DEFICIENCY
GNPAT DEFICIENCY
PEROXISOMAL DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY
CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC, DUE TO DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY
(∗) Location:
1q42.2  
(†) Associated OMIM genes:
GNPAT  
(‡) Associated MGI genes:
Gnpat  

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* quick link - http://q.sanger.ac.uk/z741blv0