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Metadata
DOID DOID:0060736
Name epidermolysis bullosa simplex Ogna type
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
Synonyms

EBS-O [EXACT]

EBS-Og [EXACT]

EBSOG [EXACT]

Xrefs

ICD10CM:Q81.0

OMIM:131950

ORDO:79401

Relationships

is_a epidermolysis bullosa simplex

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