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Disease Ontology Browser
epidermolysis bullosa simplex Ogna type (DOID:0060736)
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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/15/2017
MGI 6.10
The Jackson Laboratory