Link to this page
National Drug File - Reference Terminology
Last uploaded:
July 6, 2018
Jump to:
| Preferred Name | Pemphigus, Benign Familial [Disease/Finding] | |
| Synonyms |
Hailey-Hailey Disease Familial Benign Chronic Pemphigus Benign Chronic Pemphigus Pemphigus, Benign Familial |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003423 |
|
| altLabel |
Hailey-Hailey Disease Familial Benign Chronic Pemphigus Benign Chronic Pemphigus Pemphigus, Benign Familial
|
|
| cui |
C0085106
|
|
| MESH DEFINITION |
An autosomal dominantly inherited skin disorder characterized by recurrent eruptions of vesicles and BULLAE mainly on the neck, axillae, and groin. Mutations in the ATP2C1 gene (encoding the secretory pathway Ca2++/Mn2++ ATPase 1 (SPCA1)) cause this disease. It is clinically and histologically similar to DARIER DISEASE - both have abnormal, unstable DESMOSOMES between KERATINOCYTES and defective CALCIUM-TRANSPORTING ATPASES. It is unrelated to PEMPHIGUS VULGARIS though it closely resembles that disease.
|
|
| MESH DUI |
D016506
|
|
| MeSH name |
Pemphigus, Benign Familial
|
|
| MESH UI |
M0025199
|
|
| NDFRT kind |
DISEASE_KIND
|
|
| notation |
N0000003423
|
|
| NUI |
N0000003423
|
|
| prefLabel |
Pemphigus, Benign Familial [Disease/Finding]
|
|
| SNOMED CID |
79468000
|
|
| tui |
T047
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping