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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-positive, NK cell-positive
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Accession:DOID:0090014 term browser browse the term
Definition:A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31. (DO)
Synonyms:exact_synonym: autosomal recessive T cell negative, B cell positive, NK cell positive SCID;   autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID
 primary_id: MESH:C563822
 xref: ICD10CM:D81.2;   ORDO:169154


show annotations for term's descendants           Sort by:
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coro1a coronin 1A ISS OMIM:608971 MouseDO NCBI chr 1:181,295,561...181,300,566
Ensembl chr 1:181,295,562...181,300,534 		JBrowse link
G Il7r interleukin 7 receptor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive		 CTD
ClinVar		 PMID:15615257 PMID:20021794 PMID:21664875 PMID:25741868 PMID:26123418 More... NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757 		JBrowse link
G Jak3 Janus kinase 3 ISS OMIM:608971 MouseDO NCBI chr16:18,386,330...18,398,542
Ensembl chr16:18,386,405...18,398,536 		JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ClinVar PMID:7621884 PMID:11101853 PMID:11528386 PMID:11548742 PMID:11841494 More... NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692 		JBrowse link
Immunodeficiency 104 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cd3d CD3 delta subunit of T-cell receptor complex ISO ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:45,287,803...45,293,342
Ensembl chr 8:45,288,749...45,301,809 		JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by term: IL7R-related condition | ClinVar Annotator: match by term: Immunodeficiency 104 OMIM
ClinVar		 PMID:9536098 PMID:9843216 PMID:10899029 PMID:11023514 PMID:15615257 More... NCBI chr 2:58,452,393...58,477,757
Ensembl chr 2:58,454,217...58,477,757 		JBrowse link
G Ptprc protein tyrosine phosphatase, receptor type, C ISO ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:7621884 PMID:9536098 PMID:10700239 PMID:11101853 PMID:11528386 More... NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692 		JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Immunodeficiency 104 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 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: Immunodeficiency 104 ClinVar PMID:20603253 PMID:21131235 PMID:24481607 PMID:25741868 PMID:26476733 More... NCBI chr 3:87,902,373...87,910,227
Ensembl chr 3:87,902,238...87,911,066 		JBrowse link
Immunodeficiency 105 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptprc protein tyrosine phosphatase, receptor type, C ISO ClinVar Annotator: match by term: Immunodeficiency 105 OMIM
ClinVar		 PMID:7621884 PMID:9068311 PMID:10700239 PMID:11101853 PMID:11145714 More... NCBI chr13:49,596,193...49,708,283
Ensembl chr13:49,596,193...49,708,692 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Infant, Newborn, Diseases 1239
          severe combined immunodeficiency 486
            severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 7
              Immunodeficiency 104 5
              Immunodeficiency 105 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 7
                  Immunodeficiency 104 5
                  Immunodeficiency 105 1
paths to the root