loading...| Preferred Name | transient bullous dermolysis of the newborn | |
| Synonyms |
DEB, bullous dermolysis of the newborn 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 |
|
| alternative label |
DEB, bullous dermolysis of the newborn DEB-BDN |
|
| database_cross_reference |
MESH:C536979 UMLS_CUI:C1851573 SNOMEDCT_US_2023_03_01:723553000 GARD:10010 MIM:131705 ORDO:79411 |
|
| 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, bullous dermolysis of the newborn DEB-BDN |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111345 |
|
| in_subset | ||
| label |
transient bullous dermolysis of the newborn |
|
| notation |
DOID:0111345 |
|
| note |
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. |
|
| preferred label |
transient bullous dermolysis of the newborn |
|
| prefLabel |
transient bullous dermolysis of the newborn |
|
| subClassOf |