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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 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        Infant, Newborn, Diseases 547
          severe combined immunodeficiency 94
            severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 5
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal recessive disease 2628
                severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 5
paths to the root