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Human Disease and Mouse Model Detail
Human Disease Epidermolysis Bullosa Junctionalis with Pyloric Atresia
OMIM ID: 226730
Human Phenotype Ontology associations
Synonyms Aplasia Cutis Congenita with Gastrointestinal Atresia; Carmi Syndrome; Eb-Pa-Acc; Epidermolysis Bullosa, Junctional, with Pyloric Atresia; Epidermolysis Bullosa, Junctional, with Pyloric Atresia and Aplasia Cutis Congenita; Jeb-Pa; Junctional Epidermolysis Bullosa with Pyloric Atresia
View all models View ALL (1) mouse models for this human disease.
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     ITGB4* Itgb4* View 1 model HomoloGene and HGNC
     ITGA6* Itga6   HomoloGene and HGNC
PLEC* Plec   HomoloGene and HGNC
References Disease References using Mouse Models (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.07
The Jackson Laboratory