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| Term | Hailey-Hailey disease | ID (Ontology) | DOID:0050429 (Human Disease) |
| 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. | ||
| Also Known As | "BENIGN CHRONIC PEMPHIGUS" ; "Pemphigus, Benign Familial" | ||
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| DO.org | |||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal dominant disease____________________ autoimmune disease of skin and connective tissue | |__pemphigus_____________________________________| bullous skin disease | |__pemphigus_____________________________________| Hailey-Hailey disease 1 rec. |
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autosomal dominant disease pemphigus |
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GARD:6559 ICD10CM:Q82.8 MESH:D016506 MIM:169600 NCI:C82865 SNOMEDCT_US_2023_03_01:79468000 UMLS_CUI:C0085106 |
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