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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
 alt_id: OMIM:608971;   RDO:0009262;   RDO:0012984
 xref: ICD10CM:D81.2;   ORDO:169154
For additional species annotation, visit the Alliance of Genome Resources.


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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 Cd3d CD3d molecule ISO ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive ClinVar NCBI chr 8:49,282,502...49,287,095
Ensembl chr 8:49,282,460...49,287,110
JBrowse link
G Coro1a coronin 1A ISS OMIM:608971 MouseDO NCBI chr 1:198,123,883...198,128,890
Ensembl chr 1:198,123,884...198,128,857
JBrowse link
G Il7r interleukin 7 receptor ISO ClinVar Annotator: match by OMIM:608971
ClinVar Annotator: match by term: Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
OMIM
ClinVar
PMID:9843216, PMID:11023514, PMID:15661025, PMID:16492442, PMID:17827065, PMID:18255337, PMID:18403192, PMID:18641513, PMID:20021794, PMID:21664875, PMID:24033266, PMID:24578017, PMID:24728327, PMID:24759676, PMID:25046553, PMID:25741868, PMID:26123418, PMID:27807805, PMID:27833609, PMID:28492532, PMID:32576985
G Jak3 Janus kinase 3 ISS OMIM:608971 MouseDO NCBI chr16:20,107,471...20,120,678
Ensembl chr16:20,109,200...20,120,668
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 Annotator: match by OMIM:608971
OMIM
ClinVar
PMID:10700239, PMID:11145714, PMID:22689986, PMID:25741868, PMID:26915675, PMID:28492532 NCBI chr13:55,061,561...55,174,150
Ensembl chr13:55,061,562...55,173,692
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        Infant, Newborn, Diseases 546
          severe combined immunodeficiency 91
            severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 5
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.