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RGD uses the Human Disease Ontology (DO, 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 17
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Accession:DOID:0111973 term browser browse the term
Definition:A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in CD3G on chromosome 11q23.3. (DO)
Synonyms:exact_synonym: CD3 Gamma Deficient;   CD3-Gamma Deficiency;   IMD17;   Immunodeficiency due to Defect in CD3-Gamma;   SCID-like immunodeficiency, T-cell-partial, B-cell-positive, NK-cell-positive;   immunodeficiency 17, CD3 gamma deficient
 primary_id: MESH:C566083
 alt_id: OMIM:615607
For additional species annotation, visit the Alliance of Genome Resources.

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immunodeficiency 17 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd3g CD3g molecule ISO ClinVar Annotator: match by OMIM:615607
ClinVar Annotator: match by term: Immunodeficiency due to defect in CD3-gamma
ClinVar Annotator: match by term: Immunodeficiency 17
PMID:1635567 PMID:1709425 PMID:17277165 PMID:24033266 PMID:28492532 NCBI chr 8:49,274,553...49,280,943
Ensembl chr 8:49,274,960...49,280,901
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      primary immunodeficiency disease 2364
        T cell deficiency 10
          immunodeficiency 17 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal recessive disease 2617
                immunodeficiency 17 1
paths to the root