| Metadata | |
|---|---|
| ID | DOID:0111347 |
| Name | epidermolysis bullosa with congenital localized absence of skin and deformity of nails |
| Definition | An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31. https://www.ncbi.nlm.nih.gov/pubmed/8618021, https://www.ncbi.nlm.nih.gov/pubmed/5910871 |
| Xrefs | |
| Synonyms |
EBD, Bart type [EXACT] epidermolysis bullosa dystrophica, Bart type [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a physical disorder |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance disease has basis in some Abnormality of prenatal development or birth |