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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;   SCID due to DNA-PKcs deficiency;   immunodeficiency 26 with or without neurologic abnormalities;   severe combined immunodeficiency due to DNA-PKcs deficiency
 narrow_synonym: immunodeficiency 26 without neurologic abnormalities
 primary_id: OMIM:615966
 xref: NCI:C176795;   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:9536098 PMID:17576681 PMID:19075392 PMID:23722905 PMID:25741868 More... NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        Neurologic Manifestations 5497
          immunodeficiency 26 1
Path 2
Term Annotations click to browse term
  disease 17435
    Developmental Disease 11133
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9666
        genetic disease 9072
          monogenic disease 7224
            autosomal genetic disease 6350
              autosomal recessive disease 3544
                immunodeficiency 26 1
paths to the root