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recessive dystrophic epidermolysis bullosa
Summary
- Synonym
-
- RDEB, Hallopeau-Siemens type
- autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
- autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
- 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.
- Super Class
- autosomal recessive disease epidermolysis bullosa dystrophica
External Links
- Disease Ontology
- DOID:0060642
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
