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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
For additional species annotation, visit the Alliance of Genome Resources.


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 OMIM:615527
ClinVar Annotator: match by term: Candidiasis, familial, 8
OMIM
ClinVar
PMID:22513239 PMID:24120361 PMID:25741868 PMID:28492532 NCBI chr20:44,679,861...44,722,874
Ensembl chr20:44,680,449...44,722,872
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      integumentary system disease 2746
        nail disease 58
          chronic mucocutaneous candidiasis 11
            Candidiasis, Familial, 8 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        sensory system disease 5335
          skin disease 2746
            Infectious Skin Diseases 202
              dermatomycosis 51
                chronic mucocutaneous candidiasis 11
                  Candidiasis, Familial, 8 1
paths to the root