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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 26
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Accession:DOID:0111961 term browser browse the term
Definition:A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in PRKDC on chromosome 8q11.21. (DO)
Synonyms:exact_synonym: IMD26;   Immunodeficiency 26 with or without Neurologic Abnormalities;   SCID due to DNA-PKcs deficiency;   severe combined immunodeficiency due to DNA-PKcs deficiency
 narrow_synonym: immunodeficiency 26 without neurologic abnormalities
 primary_id: OMIM:615966
 xref: ORDO:317425
For additional species annotation, visit the Alliance of Genome Resources.


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immunodeficiency 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO ClinVar Annotator: match by term: Immunodeficiency 26 without neurologic abnormalities
ClinVar Annotator: match by term: Immunodeficiency 26 with or without neurologic abnormalities
ClinVar
OMIM
PMID:19075392, PMID:23722905, PMID:25741868, PMID:26122175, PMID:28492532 NCBI chr11:89,293,547...89,510,948
Ensembl chr11:89,293,696...89,510,871
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        Neurologic Manifestations 4189
          immunodeficiency 26 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                immunodeficiency 26 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.