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Disease Ontology Term: epidermolysis bullosa with congenital localized absence of skin and deformity of nails

DO ID
DOID:0111347
Description
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 COL7A1 on chromosome 3p21.31.
Synonyms
EBD, Bart type, epidermolysis bullosa dystrophica, Bart type
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Annotations

Manually Curated

There are no manually curated annotations for epidermolysis bullosa with congenital localized absence of skin and deformity of nails.

High-throughput

There are no high-throughput annotations for epidermolysis bullosa with congenital localized absence of skin and deformity of nails.

Computational

There are no computational annotations for epidermolysis bullosa with congenital localized absence of skin and deformity of nails.