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Metadata
DOID DOID:0060733
Name junctional epidermolysis bullosa with pyloric atresia
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.
https://www.ncbi.nlm.nih.gov/pubmed/16473856, https://www.ncbi.nlm.nih.gov/pubmed/7545057, https://www.ncbi.nlm.nih.gov/pubmed/9185503
Synonyms

Carmi syndrome [EXACT]

epidermolysis bullosa junctionalis with pyloric atresia [EXACT]

JEB-PA [EXACT]

junctional epidermolysis bullosa-pyloric atresia syndrome [EXACT]

Xrefs

ICD10CM:Q81.8

OMIM:226730

ORDO:79403

Relationships

is_a junctional epidermolysis bullosa

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