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transient bullous dermolysis of the newborn
Summary
- Synonym
-
- DEB, bullous dermolysis of the newborn
- DEB-BDN
- Definition
- An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31.
- Super Class
- autosomal recessive disease epidermolysis bullosa dystrophica
External Links
- Disease Ontology
- DOID:0111345
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
