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Disease Ontology Browser
epidermolysis bullosa simplex Ogna type (DOID:0060736)
Alliance: disease page
Synonyms: EBS-O; EBS-Og; EBSOG
Alt IDs: OMIM:131950, ICD10CM:Q81.0, ORDO:79401
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory