Search Ontology:
Human Disease

epidermolysis bullosa simplex 5A Ogna type

Term ID
DOID:0060736
Synonyms
  • EBS-O
  • EBS-Og
  • EBSOG
  • 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
References
Ontology
Human Disease   ( DOID:0060736 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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