loading...| Preferred Name | epidermolysis bullosa | |
| Synonyms |
EB acantholysis bullosa epidermolysis bullosa |
|
| Definitions |
a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal. 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. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_1000690 |
|
| database_cross_reference |
ICD9:757.39 ICD10CM:Q81 Wikipedia:Epidermolysis_bullosa MEDGEN:41832 SCTID:61003004 UMLS:C0014527 NANDO:1200234 MESH:D004820 MONDO:0006541 NCIT:C67383 NANDO:2100284 NANDO:2201000 MedDRA:10014989 DOID:2730 GARD:6359 |
|
| definition |
a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal. 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. |
|
| has_exact_synonym |
acantholysis bullosa epidermolysis bullosa |
|
| has_related_synonym |
EB |
|
| id |
EFO:1000690 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar |
|
| label |
epidermolysis bullosa |
|
| notation |
EFO:1000690 |
|
| preferred label |
epidermolysis bullosa |
|
| prefLabel |
epidermolysis bullosa |
|
| see also |
https://rarediseases.info.nih.gov/diseases/6359/epidermolysis-bullosa |
|
| skos_exactMatch |
http://identifiers.org/mesh/D004820 http://purl.obolibrary.org/obo/NCIT_C67383 http://identifiers.org/snomedct/61003004 http://purl.obolibrary.org/obo/EFO_1000690 http://identifiers.org/medgen/41832 http://purl.obolibrary.org/obo/DOID_2730 |
|
| term editor |
Sirarat Sarntivijai |
|
| subClassOf |