| Metadata | |
|---|---|
| ID | DOID:0060736 |
| Name | 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
EBS-O [EXACT] EBS-Og [EXACT] EBSOG [EXACT] |
| Parent Relationships |