Search Ontology:
Human Disease

recessive dystrophic epidermolysis bullosa

Term ID
DOID:0060642
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
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. (3)
References
Ontology
Human Disease   ( DOID:0060642 )
Relationships
is a type of
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Genes Involved
Zebrafish Models