Summary Literature (0)

DOID:0060642 - recessive dystrophic epidermolysis bullosa

Disease Ontology Definition:An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21.

Synonyms: RDEB, Hallopeau-Siemens type, autosomal recessive dystrophic epidermolysis bullosa generalisata gravis, autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type, severe generalized RDEB, severe generalized recessive dystrophic epidermolysis bullosa,

Xenbase Genes : mmp1, col7a1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009179 - recessive dystrophic epidermolysis bullosa

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

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