loading...| Preferred Name | epidermolysis bullosa simplex | |
| Synonyms |
epidermolysis bullosa intraepidermic epidermolysis bullosa simplex EBS EEB |
|
| Definitions |
Epidermolysis bullosa simplex (EBS) is 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://purl.obolibrary.org/obo/MONDO_0017610 |
|
| database_cross_reference |
ICD9:757.39 icd11.foundation:1860717527 OMIMPS:131760 Orphanet:304 NANDO:1200235 ICD10CM:Q81.0 UMLS:C0079298 NANDO:2201375 MEDGEN:86896 NANDO:2201341 SCTID:67144006 NCIT:C84692 MESH:D016110 DOID:4644 GARD:10752 |
|
| definition |
Epidermolysis bullosa simplex (EBS) is 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. |
|
| has_exact_synonym |
epidermolysis bullosa simplex EBS EEB |
|
| has_related_synonym |
epidermolysis bullosa intraepidermic |
|
| id |
MONDO:0017610 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
epidermolysis bullosa simplex |
|
| notation |
MONDO:0017610 |
|
| preferred label |
epidermolysis bullosa simplex |
|
| prefLabel |
epidermolysis bullosa simplex |
|
| see also |
https://rarediseases.info.nih.gov/diseases/10752/epidermolysis-bullosa-simplex |
|
| skos_exactMatch |
http://identifiers.org/mesh/D016110 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1860717527 http://purl.obolibrary.org/obo/NCIT_C84692 http://purl.obolibrary.org/obo/DOID_4644 http://purl.obolibrary.org/obo/Orphanet_304 https://omim.org/phenotypicSeries/PS131760 http://identifiers.org/medgen/86896 http://purl.bioontology.org/ontology/ICD10CM/Q81.0 |
|
| subClassOf |