loading...| Preferred Name | Epidermolysis bullosa simplex | |
| Synonyms |
EBS |
|
| Definitions |
A group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_304 |
|
| alternative_term |
EBS |
|
| definition |
A group of hereditary epidermolysis bullosa (HEB) disorders characterized by skin fragility resulting in intraepidermal blisters and erosions that occur either spontaneously or after physical trauma. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=304 |
|
| has_age_of_onset |
Adolescent Childhood Infancy Neonatal |
|
| has_inheritance |
Autosomal recessive Autosomal dominant |
|
| hasDbXref |
ICD-10:Q81.0 UMLS:C0079298 MeSH:D016110 ICD-11:EC30 |
|
| label |
Epidermolysis bullosa simplex |
|
| notation |
Clinical group ORPHA:304 |
|
| prefixIRI |
ORDO:Orphanet_304 |
|
| prefLabel |
Epidermolysis bullosa simplex |
|
| present_in |
Worldwide AND has_point_prevalence_average_value : 0.656 AND has_point_prevalence_range : 1-9 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 1.19 AND has_point_prevalence_range : 1-9 / 100 000 Australia AND has_point_prevalence_average_value : 0.58 AND has_point_prevalence_range : 1-9 / 1 000 000 Romania AND has_point_prevalence_average_value : 0.197 AND has_point_prevalence_range : 1-9 / 1 000 000 |
|
| subClassOf |