loading...| Preferred Name | epidermolysis bullosa dystrophica | |
| Synonyms |
epidermolysis bullosa, dermolytic dermolytic epidermolysis bullosa dystrophic EB Dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica DEB |
|
| Definitions |
an inherited disease affecting the skin and other organs. "Butterfly children" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly. A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_1000692 |
|
| database_cross_reference |
ICD9:757.39 Wikipedia:Epidermolysis_bullosa_dystrophica UMLS:C0079294 Orphanet:303 MONDO:0006543 SCTID:254185007 icd11.foundation:1060981106 NCIT:C84691 MEDGEN:37179 MESH:D016108 DOID:4959 GARD:2150 |
|
| definition |
an inherited disease affecting the skin and other organs. "Butterfly children" is the term given to those born with the disease, as their skin is seen to be as delicate and fragile as that of a butterfly. A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes. |
|
| has_exact_synonym |
dermolytic epidermolysis bullosa dystrophic EB Dystrophic epidermolysis bullosa epidermolysis bullosa dystrophica DEB |
|
| has_related_synonym |
epidermolysis bullosa, dermolytic |
|
| IAO_0000233 | ||
| id |
EFO:1000692 |
|
| 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 dystrophica |
|
| notation |
EFO:1000692 |
|
| preferred label |
epidermolysis bullosa dystrophica |
|
| prefLabel |
epidermolysis bullosa dystrophica |
|
| skos_exactMatch |
http://purl.obolibrary.org/obo/DOID_4959 http://identifiers.org/medgen/37179 http://identifiers.org/snomedct/254185007 http://identifiers.org/mesh/D016108 http://purl.obolibrary.org/obo/NCIT_C84691 http://purl.obolibrary.org/obo/Orphanet_303 http://purl.obolibrary.org/obo/EFO_1000692 http://linkedlifedata.com/resource/umls/id/C0079294 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1060981106 |
|
| term editor |
Sirarat Sarntivijai |
|
| subClassOf | ||
| excluded_subClassOf |