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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:Candidiasis, Familial, 8
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Accession:DOID:9003552 term browser browse the term
Synonyms:exact_synonym: CANDF8
 primary_id: OMIM:615527
 alt_id: RDO:9000981

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show annotations for term's descendants           Sort by:
Candidiasis, Familial, 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Traf3ip2 TRAF3 interacting protein 2 ISO ClinVar Annotator: match by term: Candidiasis, familial, 8 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20953186 PMID:20953188 More... NCBI chrNW_004624933:507,879...558,357
Ensembl chrNW_004624933:506,254...554,015 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14088
    disease of anatomical entity 13753
      integumentary system disease 3489
        nail disease 103
          chronic mucocutaneous candidiasis 52
            Candidiasis, Familial, 8 1
Path 2
Term Annotations click to browse term
  disease 14088
    Pathological Conditions, Signs and Symptoms 10990
      Signs and Symptoms 9102
        Neurologic Manifestations 8807
          sensory system disease 6153
            skin disease 3489
              Infectious Skin Diseases 225
                dermatomycosis 86
                  chronic mucocutaneous candidiasis 52
                    Candidiasis, Familial, 8 1
paths to the root