transient bullous dermolysis of the newborn
Information
- Disease name
- transient bullous dermolysis of the newborn
- Disease ID
- DOID:0111345
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/16225626, url:https\://www.ncbi.nlm.nih.gov/pubmed/9406826]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:4959
- Cross Reference ID (Disease Ontology)
- GARD:10010
- Cross Reference ID (Disease Ontology)
- MESH:C536979
- Cross Reference ID (Disease Ontology)
- MIM:131705
- Cross Reference ID (Disease Ontology)
- ORDO:79411
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:723553000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1851573
- Exact Synonym (Disease Ontology)
- DEB, bullous dermolysis of the newborn
- Exact Synonym (Disease Ontology)
- DEB-BDN
- OrphaNumber from OrphaNet (Orphanet)
- 79411