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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:severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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Accession:DOID:0090013 term browser browse the term
Definition:A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12. (DO)
Synonyms:exact_synonym: ATYPICAL SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY;   OMIA:001986;   SCID due to complete RAG1-2 deficiency;   SCID, T Cell-Negative, B Cell-Negative, NK Cell-Positive;   Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive;   severe combined immunodeficiency due to complete RAG1-2 deficiency;   severe combined immunodeficiency, B cell-negative;   severe immunodeficiency, T-cell negative, B-cell negative, NK cell-positive, autosomal recessive
 related_synonym: severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation
 primary_id: MESH:C563311
 alt_id: OMIA:001574;   OMIM:601457
 xref: ORDO:331206
For additional species annotation, visit the Alliance of Genome Resources.



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severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ClinVar PMID:1346349 PMID:2651461 PMID:2773932 PMID:3182793 PMID:3475710 More... NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Dclre1c DNA cross-link repair 1C ISO Severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation OMIA PMID:17998435 PMID:22903400 PMID:23514746 PMID:25454085 PMID:26320255 NCBI chr17:74,775,828...74,810,089
Ensembl chr17:74,776,935...74,809,186
JBrowse link
G Iftap intraflagellar transport associated protein ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ClinVar NCBI chr 3:87,812,068...87,906,517
Ensembl chr 3:87,817,408...87,906,547
JBrowse link
G Insl3 insulin-like 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative ClinVar PMID:28492532 NCBI chr16:18,398,682...18,400,566
Ensembl chr16:18,384,829...18,400,560
JBrowse link
G Jak3 Janus kinase 3 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative ClinVar PMID:7481768 PMID:7659163 PMID:9354668 PMID:9536098 PMID:9753072 More... NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536
JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISS OMIM:601457 MouseDO NCBI chr11:85,040,790...85,258,357
Ensembl chr11:85,040,792...85,257,952
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
ClinVar Annotator: match by term: Severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
OMIM
ClinVar
PMID:290284 PMID:8810255 PMID:9630231 PMID:10891452 PMID:11121059 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency | ClinVar Annotator: match by term: Severe combined immunodeficiency, B cell-negative | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative OMIM
ClinVar
PMID:8810255 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11313270 More... NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066
JBrowse link
G Rpl18a ribosomal protein L18A ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative ClinVar PMID:28492532 NCBI chr16:18,542,572...18,544,578
Ensembl chr16:18,542,566...18,545,546
JBrowse link
G Slc5a5 solute carrier family 5 member 5 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative ClinVar PMID:28492532 NCBI chr16:18,546,709...18,556,698
Ensembl chr16:18,546,709...18,556,697
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        Infant, Newborn, Diseases 1098
          severe combined immunodeficiency 453
            severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 10
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal recessive disease 4835
                severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 10
paths to the root