FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term junctional epidermolysis bullosa with pyloric atresia ID (Ontology) DOID:0060733 (Human Disease)
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.
Also Known As "Carmi syndrome" ; "epidermolysis bullosa junctionalis with pyloric atresia" ; "JEB-PA" (for all, see Synonyms field below)
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 Genes
 junctional epidermolysis bullosa with pyloric atresia       1
 for disease ribbon | junctional epidermolysis bullosa with pyloric atresia       1
 model of | junctional epidermolysis bullosa with pyloric atresia       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease_______
epidermolysis bullosa                 |
 |__junctional epidermolysis bullosa__|
                                      junctional epidermolysis bullosa with pyloric atresia  1 rec.
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Is a autosomal recessive disease
junctional epidermolysis bullosa
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Synonyms
  • "Carmi syndrome" EXACT
    "epidermolysis bullosa junctionalis with pyloric atresia" EXACT
    "JEB-PA" EXACT OMO:0003012
    "junctional epidermolysis bullosa-pyloric atresia syndrome" EXACT
Secondary IDs
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ICD10CM:Q81.8
MIM:226730
ORDO:79403