loading...| Preferred Name |
Inherited epidermolysis bullosa |
| ID |
http://www.orpha.net/ORDO/Orphanet_79361 |
| alternative_term |
Hereditary epidermolysis bullosa Epidermolysis bullosa hereditaria |
| definition |
Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79361 |
| has_age_of_onset |
All ages |
| has_inheritance |
Autosomal recessive Autosomal dominant |
| hasDbXref |
UMLS:C1274224 |
| label |
Inherited epidermolysis bullosa |
| notation |
Category ORPHA:79361 |
| prefixIRI |
ORDO:Orphanet_79361 |
| prefLabel |
Inherited epidermolysis bullosa |
| present_in |
Europe AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000 China AND has_point_prevalence_average_value : 0.59 AND has_point_prevalence_range : 1-9 / 1 000 000 United States AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 Europe AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 United States AND has_point_prevalence_average_value : 0.8 AND has_point_prevalence_range : 1-9 / 1 000 000 Croatia AND has_point_prevalence_average_value : 0.96 AND has_point_prevalence_range : 1-9 / 1 000 000 |
| subClassOf |
http://www.orpha.net/ORDO/Orphanet_79353 |