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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

Referenced OMIM:
OMIM:131950 - EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE; EBSOG

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : plec

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): epidermolysis bullosa simplex (is_a)


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