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

Summary

DOID:0111347 - epidermolysis bullosa with congenital localized absence of skin and deformity of nails

Disease Ontology 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.

Synonyms: EBD, Bart type, epidermolysis bullosa dystrophica, Bart type,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), physical disorder (is_a)