| Metadata | |
|---|---|
| ID | DOID:0060642 |
| Name | recessive dystrophic epidermolysis bullosa |
| 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. https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa, https://www.ncbi.nlm.nih.gov/pubmed/3307723, https://www.ncbi.nlm.nih.gov/pubmed/8513326 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive dystrophic epidermolysis bullosa generalisata gravis [EXACT] autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type [EXACT] RDEB, Hallopeau-Siemens type [EXACT] severe generalized RDEB [NARROW] severe generalized recessive dystrophic epidermolysis bullosa [NARROW] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |