Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060736 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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