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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 OMIM:613953
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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      primary immunodeficiency disease 2723
        immunodeficiency 51 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          skin disease 2993
            Infectious Skin Diseases 257
              dermatomycosis 87
                chronic mucocutaneous candidiasis 47
                  immunodeficiency 51 1
paths to the root