Pemphigus, Benign Familial
Disease ID: disease_node_8738
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| Dbxref | GARD:6559, ICD10CM:Q82.8, MESH:D016506, MIM:169600, NCI:C82865, SNOMEDCT_US_2023_03_01:79468000, UMLS_CUI:C0085106 |
|---|---|
| Subclassof | DOID_0050736, DOID_9182 |
| Data Source | DOID, MESH |
| Synonyms | BENIGN CHRONIC PEMPHIGUS, Pemphigus, Benign Familial |
| Disease Has Location | UBERON_8410021, UBERON_0015474 |
| Mesh Id | D016506 |
| Mesh Label | Pemphigus, Benign Familial |
| Mesh Subclassof | D012872, D012873 |
| Doid Label | Hailey-Hailey disease |
| Doid Description | 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 | GENO_0000147 |
| Disease Node Id | disease_node_8738 |
| Doid Id | DOID_0050429 |
| Label | Pemphigus, Benign Familial |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)