Terminology Service for NFDI4Health
Hailey-Hailey disease
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http://purl.obolibrary.org/obo/DOID_0050429
A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. [ http://purl.obolibrary.org/obo/ECO_0007636 ]
Term info
Label
Hailey-Hailey disease
Synonyms
- BENIGN CHRONIC PEMPHIGUS
- Pemphigus, Benign Familial
Subsets
NCIthesaurus
comment
OMIM mapping confirmed by DO. [SN].
has obo namespace
disease_ontology
id
DOID:0050429