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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:YAO SYNDROME
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Accession:DOID:9004527 term browser browse the term
Definition:An autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms.
Synonyms:exact_synonym: YAOS
 related_synonym: SUSCEPTIBILITY TO YAO SYNDROME
 primary_id: OMIM:617321



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YAO SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nod2 nucleotide-binding oligomerization domain containing 2 ISO ClinVar Annotator: match by term: Yao syndrome OMIM
ClinVar
PMID:11385576 PMID:11385577 PMID:11425413 PMID:11875755 PMID:11910337 More... NCBI chr19:18,379,720...18,422,817
Ensembl chr19:18,382,439...18,417,177
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      YAO SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 21089
    Pathological Conditions, Signs and Symptoms 13265
      Signs and Symptoms 10704
        Neurologic Manifestations 9941
          sensory system disease 6836
            skin disease 3901
              Genetic Skin Diseases 1832
                Hereditary Autoinflammatory Diseases 336
                  YAO SYNDROME 1
paths to the root