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OMIM ID
600121
OMIM term:
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3; RCDP3
Alternative terms:
ALKYLDIHYDROXYACETONEPHOSPHATE SYNTHASE DEFICIENCY
ALKYLGLYCERONE-PHOSPHATE SYNTHASE DEFICIENCY
AGPS DEFICIENCY
(∗) Location:
2q31.2
(†) Associated OMIM genes:
AGPS
(‡) Associated MGI genes:
Agps
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Zebrafish
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