ZFIN Human Disease: autosomal dominant dystrophic epidermolysis bullosa

OBO ID: DOID:0080224

Term Name:	autosomal dominant dystrophic epidermolysis bullosa		Search Ontology:
Synonyms:
Definition:	An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes
References:	GARD:2139 OMIM:131750
Ontology:	Human Disease ( DOID:0080224 )

Relationships

is a type of:	epidermolysis bullosa dystrophica epidermolysis bullosa dystrophica Show first 5 Terms
has subtype:	epidermolysis bullosa with congenital localized absence of skin and deformity of nails epidermolysis bullosa with congenital localized absence of skin and deformity of nails Show first 5 Terms

OTHER autosomal dominant dystrophic epidermolysis bullosa PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COL7A1	col7a1	Epidermolysis bullosa dystrophica, autosomal dominant	131750

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None