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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 13
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Accession:DOID:0111987 term browser browse the term
Definition:A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in UNC119 on chromosome 17q11.2. (DO)
Synonyms:exact_synonym: IMD13
 primary_id: OMIM:615518
 xref: GARD:12375;   ORDO:228000
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Unc119 unc-119 lipid binding chaperone ISO ClinVar Annotator: match by term: Immunodeficiency 13 ClinVar
OMIM
PMID:22184408 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:65,606,919...65,612,324
Ensembl chr10:65,606,898...65,612,324
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      primary immunodeficiency disease 2364
        T cell deficiency 10
          immunodeficiency 13 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                immunodeficiency 13 1
paths to the root