loading...| Preferred Name | Inherited epidermolysis bullosa | |
| Synonyms |
Epidermolysis bullosa hereditaria Hereditary epidermolysis bullosa |
|
| Definitions |
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. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_79361 |
|
| alternative_term |
Epidermolysis bullosa hereditaria Hereditary epidermolysis bullosa |
|
| 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 |
ORPHA:79361 Category |
|
| 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 Europe AND has_birth_prevalence_average_value : 1.9 AND has_birth_prevalence_range : 1-9 / 100 000 China AND has_point_prevalence_average_value : 0.59 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 United States 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 |
|
| subClassOf |
http://www.orpha.net/ORDO/Orphanet_183426 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://www.orpha.net/ORDO/Orphanet_79361 | CCONT | SAME_URI | |
| http://www.orpha.net/ORDO/Orphanet_79361 | EFO | SAME_URI | |
| http://www.limics.org/hrdo/rdfns#pat_id_11387 | HRDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019276 | CCONT | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019276 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019276 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019276 | DOVES | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0019276 | KTAO | LOOM |