JSON

epidermolysis bullosa dystrophica

^ http://purl.obolibrary.org/obo/MONDO_0006543

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. [ NCIT:P378 ]

Term info

database cross reference
  • DOID:4959 (MONDO:equivalentTo)
  • Wikipedia:Epidermolysis_bullosa_dystrophica (EFO:1000692)
  • SCTID:254185007 (MONDO:equivalentTo)
  • EFO:1000692 (MONDO:equivalentTo)
  • NCIT:C84691 (MONDO:equivalentTo)
  • MESH:D016108 (MONDO:equivalentTo)
  • ICD9:757.39 (MONDO:relatedTo)
  • Orphanet:303 (MONDO:equivalentTo)
  • GARD:0002150 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
DEB [ Orphanet:303 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/3856

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/Orphanet_303, http://identifiers.org/mesh/D016108, http://purl.obolibrary.org/obo/NCIT_C84691, http://identifiers.org/snomedct/254185007, http://purl.obolibrary.org/obo/DOID_4959

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0006541

has exact synonym

DEB, dermolytic epidermolysis bullosa, epidermolysis bullosa dystrophica

has related synonym

epidermolysis bullosa, dermolytic

id

MONDO:0006543

Term relations