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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: autosomal recessive dystrophic epidermolysis bullosa generalisata gravis, autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type, RDEB, Hallopeau-Siemens type, severe generalized RDEB, severe generalized recessive dystrophic epidermolysis bullosa
Xenbase Genes
:
mmp1,
col7a1
| MONDO:0009179 - recessive dystrophic epidermolysis bullosa |
| MIM:226600 - EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee