OBO ID: DOID:0060736
Term Name: epidermolysis bullosa simplex Ogna type Search Ontology:
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)
OTHER epidermolysis bullosa simplex Ogna type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PLEC Epidermolysis bullosa simplex, Ogna type 131950
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None