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OMIM ID
130070
OMIM term:
EHLERS-DANLOS SYNDROME, PROGEROID FORM
Alternative terms:
PROTEODERMATAN SULFATE, DEFECTIVE BIOSYNTHESIS OF
PDS, DEFECTIVE BIOSYNTHESIS OF
DERMATAN SULFATE PROTEOGLYCAN
XYLOSYLPROTEIN 4-BETA-GALACTOSYLTRANSFERASE DEFICIENCY
XGPT DEFICIENCY
GALACTOSYLTRANSFERASE I DEFICIENCY
(∗) Location:
5q35.3
(†) Associated OMIM genes:
B4GALT7
(‡) Associated MGI genes:
Bgn
Dcn
Mouse
Zebrafish
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