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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;   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
 xref: MESH:C563311;   MIM:601457;   MONDO:0011086;   OMIA:001574;   OMIA:001986;   ORDO:331206


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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 3:172,818,174...172,842,283
Ensembl chr 3:172,818,176...172,842,293 		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 More... NCBI chr17:79,684,988...79,718,399
Ensembl chr17:79,678,698...79,718,734 		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 PMID:25741868 NCBI chr 3:108,242,105...108,361,607
Ensembl chr 3:108,267,132...108,361,573 		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 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 PMID:7481768 PMID:7659163 PMID:8704236 PMID:9354668 PMID:9536098 More... NCBI chr16:18,418,807...18,432,515
Ensembl chr16:18,420,415...18,433,222 		JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISS OMIM:601457 MouseDO NCBI chr11:85,040,790...85,258,357
Ensembl chr11:98,544,954...98,762,108 		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 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
CTD Direct Evidence: marker/mechanism
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 		OMIM
ClinVar
CTD		 PMID:290284 PMID:2682973 PMID:2808362 PMID:8810255 PMID:9630231 More... NCBI chr 3:108,372,087...108,383,184
Ensembl chr 3:108,371,978...108,383,261 		JBrowse link
G Rag2 recombination activating 2 ISO
ISS 		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
CTD Direct Evidence: marker/mechanism
OMIM:601457
ClinVar Annotator: match by term: Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency | 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 		OMIM
ClinVar
CTD
MouseDO		 PMID:8810255 PMID:10777560 PMID:10891502 PMID:11133745 PMID:11138625 More... NCBI chr 3:108,357,399...108,367,186
Ensembl chr 3:108,357,399...108,365,253 		JBrowse link
G Sall4 spalt-like transcription factor 4 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ClinVar PMID:25741868 NCBI chr 3:157,474,067...157,491,055
Ensembl chr 3:177,891,705...177,909,743 		JBrowse link
G Txndc15 thioredoxin domain containing 15 ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive ClinVar PMID:25741868 NCBI chr17:8,898,074...8,910,538
Ensembl chr17:8,903,252...8,916,079 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        Infant, Newborn, Diseases 1296
          severe combined immunodeficiency 529
            severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 9
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive 9
paths to the root