ZFIN Human Disease: epidermolysis bullosa with congenital localized absence of skin and deformity of nails

OBO ID: DOID:0111347

Term Name:	epidermolysis bullosa with congenital localized absence of skin and deformity of nails		Search Ontology:
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 )

Relationships

is a type of:	autosomal dominant disease autosomal dominant dystrophic epidermolysis bullosa physical disorder autosomal dominant disease autosomal dominant dystrophic epidermolysis bullosa physical disorder Show first 5 Terms

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

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COL7A1	col7a1	Epidermolysis bullosa dystrophica, Bart type	132000

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None