loading...| Preferred Name | epidermolysis bullosa | |
| Synonyms |
EB acantholysis bullosa epidermolysis bullosa |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0006541 |
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| database_cross_reference |
DOID:2730 EFO:1000690 ICD9:757.39 MESH:D004820 Wikipedia:Epidermolysis_bullosa SCTID:61003004 NCIT:C67383 ICD10CM:Q81 |
|
| 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/mesh/D004820 http://purl.obolibrary.org/obo/NCIT_C67383 http://identifiers.org/snomedct/61003004 |
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| has_exact_synonym |
acantholysis bullosa epidermolysis bullosa |
|
| has_related_synonym |
EB |
|
| id |
MONDO:0006541 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare |
|
| label |
epidermolysis bullosa |
|
| notation |
MONDO:0006541 |
|
| prefLabel |
epidermolysis bullosa |
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| seeAlso |
https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa |
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| treeView | ||
| subClassOf |