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familial Behcet-like autoinflammatory syndrome
Summary
- Synonym
-
- A20 haploinsufficiency
- Definition
- A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23.
- Super Class
- autosomal dominant disease primary immunodeficiency disease
External Links
- Disease Ontology
- DOID:0080944
- Mondo Disease Ontology
- OMIM
