epidermolysis bullosa simplex Ogna type

Term ID

DOID:0060736

Synonyms

• EBS-O
• EBS-Og
• EBSOG

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. https://www.ncbi.nlm.nih.gov/pubmed/11851880

References

• ICD10CM:Q81.0
• OMIM:131950
• ORDO:79401

Ontology

Human Disease   ( DOID:0060736 )