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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/5910871, https://www.ncbi.nlm.nih.gov/pubmed/8618021
Xrefs

MESH:C562638

MIM:132000

Synonyms

EBD, Bart type [EXACT]

epidermolysis bullosa dystrophica, Bart type [EXACT]

Parent Relationships

is_a autosomal dominant dystrophic epidermolysis bullosa

is_a physical disorder

is_a autosomal dominant disease

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