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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 ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, Behcet-like 1 | ClinVar Annotator: match by term: TNFAIP3-related condition OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:26642243 PMID:28492532 PMID:29241730 More... NCBI chrNW_004936560:5,124,955...5,138,988
Ensembl chrNW_004936560:5,128,843...5,138,345 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    syndrome 9491
      primary immunodeficiency disease 3540
        Familial Behcet-Like Autoinflammatory Syndrome 32
          familial Behcet-like autoinflammatory syndrome 1 1
Path 2
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 16324
        genetic disease 16311
          monogenic disease 9607
            autosomal genetic disease 8891
              autosomal dominant disease 5828
                familial Behcet-like autoinflammatory syndrome 1 1
paths to the root