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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 the PRKDC gene 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


show annotations for term's descendants           Sort by:
immunodeficiency 26 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clxn calaxin ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr11:85,977,231...85,996,561
Ensembl chr11:85,983,304...85,996,538 		JBrowse link
G Mcm4 minichromosome maintenance complex component 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr11:85,258,443...85,272,144
Ensembl chr11:85,258,443...85,272,144 		JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19075392 PMID:23722905 More... NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952 		JBrowse link
G Snai2 snail family transcriptional repressor 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr11:86,182,788...86,186,203
Ensembl chr11:86,181,909...86,186,200 		JBrowse link
G Ube2v2 ubiquitin conjugating enzyme E2 V2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to DNA-PKcs deficiency ClinVar PMID:28492532 NCBI chr11:85,304,528...85,338,430
Ensembl chr11:85,304,526...85,336,369 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      nervous system disease 14089
        Neurologic Manifestations 10052
          immunodeficiency 26 5
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          monogenic disease 10418
            autosomal genetic disease 9576
              autosomal recessive disease 6655
                immunodeficiency 26 5
paths to the root