Disease #01777

Official abbreviation -
Name epidermolysis bullosa, junctional, with pyloric atresia
OMIM ID 226730
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 2 genes ITGA6, ITGB4
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Individuals

1 entry on 1 page. Showing entry 1.
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00132800 25728941-Fam PubMed: Masunaga 2015 2-generation family, unaffected heterozygous carrier parents M no Japan - >29y 0 - - epidermolysis bullosa, junctional, with pyloric atresia see paper; ..., pyloric atresia-junctional epidermolysis bullosa syndrome (PA-JEB) ITGB4 ITGB4 5 1 Johan den Dunnen
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