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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 52
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Accession:DOID:0111983 term browser browse the term
Definition:A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2. (DO)
Synonyms:exact_synonym: IMD52;   severe combined immunodeficiency due to LAT deficiency
 primary_id: OMIM:617514
 xref: ORDO:504523
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 52 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lat linker for activation of T cells ISO ClinVar Annotator: match by term: Immunodeficiency 52 ClinVar
OMIM
PMID:27242165, PMID:27522155 NCBI chr 1:197,765,644...197,770,669
Ensembl chr 1:197,765,644...197,770,669
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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 52 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 52 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.