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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 fragment of IgG receptor IIIa ISO ClinVar Annotator: match by term: Immunodeficiency 20 OMIM
ClinVar
PMID:8608639 PMID:8609432 PMID:8874200 PMID:23006327 PMID:24033266 PMID:25741868 NCBI chr13:89,385,775...89,396,047
Ensembl chr13:89,385,859...89,396,051
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      primary immunodeficiency disease 2375
        immunodeficiency 20 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                immunodeficiency 20 1
paths to the root