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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:21350122 PMID:24033266 PMID:25741868 PMID:26871944 PMID:27930337 PMID:28492532 NCBI chr 4:152,995,865...153,018,394
Ensembl chr 4:152,995,865...153,018,394 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      primary immunodeficiency disease 2364
        immunodeficiency 51 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        sensory system disease 5168
          skin disease 2711
            Infectious Skin Diseases 188
              dermatomycosis 50
                chronic mucocutaneous candidiasis 11
                  immunodeficiency 51 1
paths to the root