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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:AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY
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Accession:DOID:9004604 term browser browse the term
Definition:An autosomal dominant immunologic disorder characterized by onset of recurrent episodes of unexplained fever beginning in early infancy. The episodes occur in a cyclic pattern with a frequency of every week or every few weeks and a duration of several days. Patients have accompanying lymphadenopathy and patient serum shows increased levels of inflammatory cytokines and chemokines, consistent with abnormal activation of the innate inflammatory system.
Synonyms:exact_synonym: AIEFL;   CLEAVAGE-RESISTANT RIPK1-INDUCED AUTOINFLAMMATORY SYNDROME CRIA SYNDROME
 alt_id: OMIM:618852
For additional species annotation, visit the Alliance of Genome Resources.


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AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk1 receptor interacting serine/threonine kinase 1 ISO ClinVar Annotator: match by term: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY ClinVar
OMIM
PMID:31827280 PMID:31827281 NCBI chr17:31,537,580...31,569,904
Ensembl chr17:31,537,591...31,569,904
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Pathological Conditions, Signs and Symptoms 10189
      Signs and Symptoms 6455
        Body Temperature Changes 92
          Fever 58
            AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        sensory system disease 5584
          skin disease 2945
            Genetic Skin Diseases 1041
              Hereditary Autoinflammatory Diseases 116
                AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY 1
paths to the root