loading...| Preferred Name | epidermolysis bullosa simplex 1C, localized | |
| Synonyms |
Weber-Cockayne type epidermolysis bullosa simplex Weber-Cockayne syndrome epidermolysis bullosa of hands and feet epidermolysis bullosa simplex, localized epidermolysis bullosa simplex, localised EBS, acral form epidermolysis bullosa simplex of palms and soles epidermolysis bullosa simplex, Weber-Cockayne type localised epidermolysis bullosa simplex epidermolysis bullosa simplex 1C, localized localized epidermolysis bullosa simplex EBS-loc |
|
| Definitions |
A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007551 |
|
| database_cross_reference |
ICD9:757.39 OMIM:131800 DOID:0080510 MEDGEN:87016 UMLS:C0080333 SCTID:294705005 Orphanet:79400 GARD:2146 |
|
| definition |
A basal subtype of epidermolysis bullosa simplex (EBS). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather. |
|
| has_exact_synonym |
epidermolysis bullosa simplex of palms and soles epidermolysis bullosa simplex, Weber-Cockayne type localised epidermolysis bullosa simplex epidermolysis bullosa simplex 1C, localized localized epidermolysis bullosa simplex EBS-loc |
|
| has_related_synonym |
Weber-Cockayne type epidermolysis bullosa simplex Weber-Cockayne syndrome epidermolysis bullosa of hands and feet epidermolysis bullosa simplex, localized epidermolysis bullosa simplex, localised EBS, acral form |
|
| IAO_0000233 | ||
| id |
MONDO:0007551 |
|
| 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#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
epidermolysis bullosa simplex 1C, localized |
|
| notation |
MONDO:0007551 |
|
| preferred label |
epidermolysis bullosa simplex 1C, localized |
|
| prefLabel |
epidermolysis bullosa simplex 1C, localized |
|
| see also |
https://rarediseases.info.nih.gov/diseases/2146/epidermolysis-bullosa-simplex-localized |
|
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C0080333 http://identifiers.org/medgen/87016 http://purl.obolibrary.org/obo/Orphanet_79400 |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0007551 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0007551 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0007551 | DOVES | SAME_URI | |
| http://purl.bioontology.org/ontology/OMIM/131800 | OMIM | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0007551 | MONDO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0007551 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0007551 | DOVES | LOOM |