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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, 6
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Accession:DOID:9002129 term browser browse the term
Synonyms:exact_synonym: CANDF6
 broad_synonym: familial chronic mucocutaneous candidiasis, autosomal dominant
 primary_id: OMIM:613956

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Candidiasis, Familial, 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17f interleukin 17F ISO ClinVar Annotator: match by term: Candidiasis, familial, 6 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 More... NCBI chrNW_004624855:3,865,559...3,867,175
Ensembl chrNW_004624855:3,848,409...3,867,175 		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, 6 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, 6 1
paths to the root