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OMIM ID
226730
OMIM term:
EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA
Alternative terms:
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA
JUNCTIONAL EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA
JEB-PA
EPIDERMYLOSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA AND APLASIA CUTIS CONGENITA
EB-PA-ACC
CARMI SYNDROME
APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA
(∗) Location:
17q25.1 2q31.1
(†) Associated OMIM genes:
ITGA6
ITGB4
(‡) Associated MGI genes:
Itgb4
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