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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:familial Behcet-like autoinflammatory syndrome 1
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Accession:DOID:0080944 term browser browse the term
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. (DO)
Synonyms:exact_synonym: A20 haploinsufficiency;   AIFBL1;   AISBL;   TNFAIP3-RELATED CONDITION
 primary_id: OMIM:616744
 alt_id: DOID:9003185
 xref: EFO:0020034



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familial Behcet-like autoinflammatory syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfaip3 TNF alpha induced protein 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like 1 | ClinVar Annotator: match by term: TNFAIP3-related condition
OMIM
CTD
ClinVar
PMID:24728327 PMID:25741868 PMID:26642243 PMID:28492532 PMID:29241730 More... NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      primary immunodeficiency disease 4146
        Familial Behcet-Like Autoinflammatory Syndrome 32
          familial Behcet-like autoinflammatory syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                familial Behcet-like autoinflammatory syndrome 1 1
paths to the root