Hailey-Hailey disease

Term ID

DOID:0050429

Synonyms

• BENIGN CHRONIC PEMPHIGUS
• Pemphigus, Benign Familial

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. https://rarediseases.org/rare-diseases/hailey-hailey-disease/

References

• GARD:6559
• ICD10CM:Q82.8
• MESH:D016506
• MIM:169600
• NCI:C82865
• SNOMEDCT_US_2023_03_01:79468000
• UMLS_CUI:C0085106

Ontology

Human Disease   ( DOID:0050429 )