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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 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
OMIM
ClinVar
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 16023
    syndrome 7003
      primary immunodeficiency disease 2344
        T cell deficiency 10
          immunodeficiency 17 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                immunodeficiency 17 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.