OBO ID: DOID:0060736 |
Term Name: | epidermolysis bullosa simplex Ogna type | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0060736 ) |
OTHER epidermolysis bullosa simplex Ogna type PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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