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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:immunodeficiency 51
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Accession:DOID:0111996 term browser browse the term
Definition:A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in IL17RA on chromosome 22q11.1. (DO)
Synonyms:exact_synonym: CANDF5;   IMD51;   familial candidiasis 5
 primary_id: OMIM:613953
For additional species annotation, visit the Alliance of Genome Resources.



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immunodeficiency 51 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il17ra interleukin 17 receptor A ISO ClinVar Annotator: match by term: Immunodeficiency 51 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21350122 PMID:24033266 More... NCBI chr 4:153,667,534...153,690,174
Ensembl chr 4:153,667,534...153,690,174
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      primary immunodeficiency disease 3867
        immunodeficiency 51 1
Path 2
Term Annotations click to browse term
  disease 18256
    Pathological Conditions, Signs and Symptoms 12646
      Signs and Symptoms 10117
        Neurologic Manifestations 9338
          sensory system disease 6575
            skin disease 3880
              Infectious Skin Diseases 364
                dermatomycosis 95
                  chronic mucocutaneous candidiasis 54
                    immunodeficiency 51 1
paths to the root