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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 IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, 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
 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;   RDO:0012607
 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 PMID:8401541 PMID:8614422 PMID:9758612 PMID:25326637 PMID:25741868 PMID:26376800 PMID:28492532 NCBI chr 3:160,115,840...160,139,947
Ensembl chr 3:160,115,842...160,139,947
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 3:91,086,186...91,195,981
Ensembl chr 3:91,086,186...91,195,981
JBrowse link
G Jak3 Janus kinase 3 ISO 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 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
ClinVar PMID:7481768 PMID:7659163 PMID:10982185 PMID:11668610 PMID:11668621 PMID:11741532 PMID:11781709 PMID:16843266 PMID:17644747 PMID:18270328 PMID:18397343 PMID:19203666 PMID:19282076 PMID:20132407 PMID:20372971 PMID:20400977 PMID:20417861 PMID:21050946 PMID:21599579 PMID:21821710 PMID:21868263 PMID:24033266 PMID:24728327 PMID:25146434 PMID:25157968 PMID:25193870 PMID:25395141 PMID:25505553 PMID:25672756 PMID:25741868 PMID:25815310 PMID:26915675 PMID:28492532 PMID:28747913 PMID:29375547 NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISS OMIM:601457 MouseDO NCBI chr11:89,293,547...89,510,948
Ensembl chr11:89,293,696...89,510,871
JBrowse link
G Rag1 recombination activating 1 ISO 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
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
OMIM
ClinVar
PMID:8810255 PMID:9630231 PMID:10891452 PMID:11133745 PMID:11313270 PMID:16276422 PMID:16960852 PMID:17572155 PMID:18701881 PMID:19458910 PMID:21664875 PMID:22424479 PMID:23085344 PMID:23122631 PMID:24033266 PMID:24290284 PMID:24406074 PMID:24418478 PMID:25516070 PMID:25741868 PMID:25869295 PMID:25976673 PMID:26457731 PMID:26476733 PMID:26596586 PMID:27301863 PMID:27609655 PMID:28492532 PMID:30290665 NCBI chr 3:91,206,394...91,217,491
Ensembl chr 3:91,206,394...91,217,491
JBrowse link
G Rag2 recombination activating 2 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
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, b cell-negative
ClinVar Annotator: match by term: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive
OMIM
ClinVar
PMID:8810255 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11313270 PMID:15025726 PMID:16960852 PMID:17572155 PMID:19178939 PMID:19414857 PMID:20234091 PMID:21502542 PMID:21624848 PMID:22295088 PMID:23994475 PMID:24139496 PMID:24174341 PMID:25741868 PMID:25869295 PMID:26457731 PMID:26692406 PMID:27730413 PMID:28492532 PMID:28747913 PMID:28769923 PMID:29051008 PMID:29772310 PMID:30307608 NCBI chr 3:91,191,837...91,200,134
Ensembl chr 3:91,191,837...91,200,134
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        Infant, Newborn, Diseases 505
          severe combined immunodeficiency 93
            severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 6
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal recessive disease 2617
                severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 6
paths to the root