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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


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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: Severe combined immunodeficiency due to LAT deficiency OMIM
ClinVar		 PMID:25741868 PMID:27242165 PMID:27522155 PMID:28492532 NCBI chr 1:180,936,536...180,941,561
Ensembl chr 1:180,936,534...180,941,578 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      primary immunodeficiency disease 4151
        T cell deficiency 92
          immunodeficiency 52 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                immunodeficiency 52 1
paths to the root