Link to this page
Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
Jump to:
| Id | http://purl.obolibrary.org/obo/DOID_0050429
http://purl.obolibrary.org/obo/DOID_0050429
|
|---|---|
| Preferred Name | Hailey-Hailey disease |
| Definitions |
A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected.
OMIM mapping confirmed by DO. [SN].
|
| Synonyms |
BENIGN CHRONIC PEMPHIGUS
Pemphigus, Benign Familial
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected. OMIM mapping confirmed by DO. [SN]. |
|---|---|
| alternative label |
BENIGN CHRONIC PEMPHIGUS
Pemphigus, Benign Familial
|
| preferred label |
Hailey-Hailey disease
|
| label |
Hailey-Hailey disease
|
| comment |
OMIM mapping confirmed by DO. [SN].
|
| prefLabel |
Hailey-Hailey disease
|
| database_cross_reference |
UMLS_CUI:C0085106
SNOMEDCT_US_2023_03_01:79468000
MESH:D016506
ICD10CM:Q82.8
GARD:6559
MIM:169600
NCI:C82865
See more
See less
|
| notation |
DOID:0050429
|
| in_subset | |
| id |
DOID:0050429
|
| note |
A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected.
OMIM mapping confirmed by DO. [SN].
|
| has material basis in | |
| has_obo_namespace |
disease_ontology
|
| disease has location | |
| subClassOf | |
| type | |
| has exact synonym |
BENIGN CHRONIC PEMPHIGUS
Pemphigus, Benign Familial
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |