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DO Term : junctional epidermolysis bullosa with pyloric atresia [DOID:0060733] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
ICD10CM:Q81.8,
ORDO:79403,
226730,
Carmi syndrome,
JEB-PA,
junctional epidermolysis bullosa-pyloric atresia syndrome,
OMIM:226730,
epidermolysis bullosa junctionalis with pyloric atresia

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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