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Metadata
ID DOID:0080944
Name familial Behcet-like autoinflammatory syndrome
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.
https://pubmed.ncbi.nlm.nih.gov/26642243/
Xrefs

MIM:616744

Synonyms

A20 haploinsufficiency [EXACT]

Parent Relationships

is_a primary immunodeficiency disease

is_a autosomal dominant disease

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