Preferred Name |
transient bullous dermolysis of the newborn |
Synonyms |
DEB-BDN |
Definitions |
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. |
ID |
http://purl.obolibrary.org/obo/DOID_0111345 |
database_cross_reference |
SNOMEDCT_US_2022_09_01:723553000 GARD:10010 MESH:C536979 ORDO:79411 UMLS_CUI:C1851573 OMIM:131705 |
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. |
has exact synonym |
DEB-BDN DEB, bullous dermolysis of the newborn |
has material basis in | |
has_obo_namespace |
disease_ontology |
id |
DOID:0111345 |
in_subset | |
label |
transient bullous dermolysis of the newborn |
notation |
DOID:0111345 |
prefLabel |
transient bullous dermolysis of the newborn |
subClassOf |