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Summary Literature (0)
DOID:0060736 - epidermolysis bullosa simplex Ogna type

Disease Ontology Definition:An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24.

Synonyms: EBS-O, EBS-Og, EBSOG

Xenbase Genes : plec

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007555 - pidermolysis bullosa simplex 5A, Ogna type

MIM:
MIM:131950 - EPIDERMOLYSIS BULLOSA SIMPLEX 5A, OGNA TYPE; EBS5A

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), epidermolysis bullosa simplex (is_a)