|
General Information
|
| Term |
recessive dystrophic epidermolysis bullosa |
ID (Ontology) |
DOID:0060642 (Human Disease) |
| 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. |
| Also Known As |
"autosomal recessive dystrophic epidermolysis bullosa generalisata gravis" ; "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type" ; "RDEB, Hallopeau-Siemens type" |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
|
No relevant records available
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|
No relevant statements available
|
Relationships