FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term epidermolysis bullosa simplex Ogna type ID (Ontology) DOID:0060736 (Human Disease)
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.
Also Known As "EBS-O" ; "EBS-Og" ; "EBSOG"
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 Genes
 epidermolysis bullosa simplex Ogna type       1
 for disease ribbon | epidermolysis bullosa simplex Ogna type       1
 model of | epidermolysis bullosa simplex Ogna type       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_____
epidermolysis bullosa              |
 |__epidermolysis bullosa simplex__|
                                   epidermolysis bullosa simplex Ogna type  1 rec.
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Is a autosomal dominant disease
epidermolysis bullosa simplex
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Synonyms
  • "EBS-O" EXACT OMO:0003012
    "EBS-Og" EXACT OMO:0003012
    "EBSOG" EXACT OMO:0003012
Secondary IDs
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ICD10CM:Q81.0
MIM:131950
ORDO:79401