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

• ICD10CM:Q81.2
• OMIM:226600
• ORDO:79408

Ontology

Human Disease   ( DOID:0060642 )