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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:AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
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Accession:DOID:9005800 term browser browse the term
Definition:This disease is an X-linked recessive disorder characterized by the onset of inflammatory symptoms in the first decade of life in male patients. The disorder results from a defect in ELF4, which normally acts as a negative regulator of inflammatory disease.
Synonyms:exact_synonym: AIFBL2;   DEFICIENCY IN ELF4, X-LINKED;   DEX
 primary_id: OMIM:301074
For additional species annotation, visit the Alliance of Genome Resources.


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AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elf4 E74 like ETS transcription factor 4 ISO ClinVar Annotator: match by term: Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 OMIM
ClinVar		 PMID:34326534 PMID:35266071 NCBI chr  X:127,587,401...127,639,063
Ensembl chr  X:127,590,650...127,630,200 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20988
    syndrome 10788
      primary immunodeficiency disease 4504
        AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 1
Path 2
Term Annotations click to browse term
  disease 20988
    Developmental Disease 18234
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18064
        genetic disease 17984
          monogenic disease 10259
            X-linked monogenic disease 1444
              X-linked recessive disease 572
                AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 1
paths to the root