Search Ontology:
Human Disease

junctional epidermolysis bullosa with pyloric atresia

Term ID
DOID:0060733
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
  • ICD10CM:Q81.8
  • MIM:226730
  • ORDO:79403
Ontology
Human Disease   ( DOID:0060733 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations