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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 20
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Accession:DOID:0111941 term browser browse the term
Definition:A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in FCGR3A on chromosome 1q23.3. (DO)
Synonyms:exact_synonym: CD16 deficiency;   IMD20;   autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity;   autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
 primary_id: OMIM:615707
 xref: ORDO:437552
For additional species annotation, visit the Alliance of Genome Resources.



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immunodeficiency 20 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fcgr3a Fc gamma receptor IIIa ISO ClinVar Annotator: match by term: Immunodeficiency 20 OMIM
ClinVar
PMID:8608639 PMID:8609432 PMID:8874200 PMID:23006327 PMID:24033266 More... NCBI chr13:83,249,905...83,259,921
Ensembl chr13:83,249,872...83,259,921
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      primary immunodeficiency disease 2723
        immunodeficiency 20 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal recessive disease 3496
                immunodeficiency 20 1
paths to the root