epidermolysis bullosa simplex with mottled pigmentation
Information
- Disease name
- epidermolysis bullosa simplex with mottled pigmentation
- Disease ID
- DOID:0111346
- Description
- "An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13." [url:https\://www.ncbi.nlm.nih.gov/pubmed/421361, url:https\://www.ncbi.nlm.nih.gov/pubmed/8799157]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:4644
- Cross Reference ID (Disease Ontology)
- GARD:9737
- Cross Reference ID (Disease Ontology)
- MESH:C535959
- Cross Reference ID (Disease Ontology)
- MIM:131960
- Cross Reference ID (Disease Ontology)
- ORDO:79397
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:254180002
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0432316
- Exact Synonym (Disease Ontology)
- EBSMP
- Exact Synonym (Disease Ontology)
- Epidermolysis bullosa simplex-MP
- Exact Synonym (Disease Ontology)
- speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering
- OrphaNumber from OrphaNet (Orphanet)
- 79397