JSON

epidermolysis bullosa

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

Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool. [ https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa ]

Term info

database cross reference
  • SCTID:61003004 (MONDO:equivalentTo)
  • MESH:D004820 (MONDO:equivalentTo)
  • ICD9:757.39 (MONDO:relatedTo)
  • NCIT:C67383 (MONDO:equivalentTo)
  • GARD:0006359 (MONDO:equivalentTo)
  • DOID:2730 (MONDO:equivalentTo)
  • ICD10CM:Q81 (MONDO:equivalentTo)
  • Wikipedia:Epidermolysis_bullosa (EFO:1000690)
  • EFO:1000690 (MONDO:equivalentTo)
Subsets

gard_rare

abbreviation
EB [ GARD:0006359 ]

definition

Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool.

exactMatch

http://identifiers.org/snomedct/61003004, http://identifiers.org/mesh/D004820, http://purl.bioontology.org/ontology/ICD10CM/Q81, http://purl.obolibrary.org/obo/DOID_2730, http://purl.obolibrary.org/obo/NCIT_C67383

has exact synonym

acantholysis bullosa, epidermolysis bullosa

id

MONDO:0006541

seeAlso

https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa

Term relations