epidermolysis bullosa with congenital localized absence of skin and deformity of nails

Term ID

DOID:0111347

Synonyms

• EBD, Bart type
• epidermolysis bullosa dystrophica, Bart type

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. (2)

References

• MESH:C562638
• OMIM:132000

Ontology

Human Disease   ( DOID:0111347 )