Search Ontology:
Human Disease
recessive dystrophic epidermolysis bullosa
- Term ID
- DOID:0060642
- Synonyms
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- 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
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- ICD10CM:Q81.2
- MIM:226600
- ORDO:79408
- Ontology
- Human Disease ( DOID:0060642 )
- is a type of
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Zebrafish Models