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OMIM ID
246450
OMIM term:
3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY; HMGCLD
Alternative terms:
HMG-CoA LYASE DEFICIENCY
HMGCL DEFICIENCY
HL DEFICIENCY
HYDROXYMETHYLGLUTARIC ACIDURIA
(∗) Location:
1p36.11
(†) Associated OMIM genes:
HMGCL
(‡) Associated MGI genes:
Mouse
Zebrafish
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