OBO ID: DOID:0060733
Term Name: junctional epidermolysis bullosa with pyloric atresia Search Ontology:
Synonyms:
  • Carmi syndrome
  • epidermolysis bullosa junctionalis with pyloric atresia
  • JEB-PA
  • junctional epidermolysis bullosa-pyloric atresia syndrome
Definition: A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes. (3)
References:
Ontology: Human Disease   ( DOID:0060733 )
Relationships
is a type of:
OTHER junctional epidermolysis bullosa with pyloric atresia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ITGB4 Epidermolysis bullosa, junctional 5B, with pyloric atresia 226730
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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