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Metadata
ID 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
Xrefs

ICD10CM:Q81.0

OMIM:131950

ORDO:79401

Subsets

DO_rare_slim

Synonyms

EBS-O [EXACT]

EBS-Og [EXACT]

EBSOG [EXACT]

Parent Relationships

is_a epidermolysis bullosa simplex

is_a autosomal dominant disease

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