loading...| Preferred Name | epidermolysis bullosa dystrophica | |
| Synonyms |
epidermolysis bullosa, dermolytic epidermolysis bullosa dystrophica dermolytic epidermolysis bullosa DEB |
|
| Definitions |
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://purl.obolibrary.org/obo/MONDO_0006543 |
|
| database_cross_reference |
Wikipedia:Epidermolysis_bullosa_dystrophica ICD9:757.39 GARD:2150 DOID:4959 EFO:1000692 Orphanet:303 MESH:D016108 icd11.foundation:1060981106 SCTID:254185007 NCIT:C84691 |
|
| definition |
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. |
|
| exactMatch |
http://purl.obolibrary.org/obo/DOID_4959 http://identifiers.org/snomedct/254185007 http://identifiers.org/mesh/D016108 |
|
| has_exact_synonym |
epidermolysis bullosa dystrophica dermolytic epidermolysis bullosa DEB |
|
| has_related_synonym |
epidermolysis bullosa, dermolytic |
|
| IAO_0000233 | ||
| id |
MONDO:0006543 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
| label |
epidermolysis bullosa dystrophica |
|
| notation |
MONDO:0006543 |
|
| prefLabel |
epidermolysis bullosa dystrophica |
|
| treeView | ||
| excluded subClassOf | ||
| subClassOf |