Rhizomelic Chondrodysplasia Punctata, Type 2
CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC, DUE TO DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY ,
DHAPAT DEFICIENCY ,
DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY ,
GLYCERONEPHOSPHATE O-ACYLTRANSFERASE DEFICIENCY ,
GNPAT DEFICIENCY ,
PEROXISOMAL DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY
bone,
developmental,
eye,
genetic,
metabolism,
neurological
GNPAT
(Withdrawn symbols:
DAP-AT,
DAPAT,
DHAPAT
)
Gnpat
(Withdrawn symbols:
AU019525,
D1Ertd819e
)
OMIM:222765 (names, synonyms, disease associated genes),
Orphanet (disease classes),
HGNC, Ensembl, MGI (gene symbols, gene orthology)
HPO (phenotypes)