Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive
go back to main search page
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.


show annotations for term's descendants       view all columns           Sort by:
 
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd3d CD3d molecule JBrowse link 8 49,282,502 49,287,095 RGD:8554872
G Coro1a coronin 1A JBrowse link 1 198,123,883 198,128,890 RGD:13592920
G Il7r interleukin 7 receptor RGD:7240710
RGD:8554872
G Jak3 Janus kinase 3 JBrowse link 16 20,107,471 20,120,678 RGD:13592920
G Ptprc protein tyrosine phosphatase, receptor type, C JBrowse link 13 55,061,561 55,174,150 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        Infant, Newborn, Diseases 411
          severe combined immunodeficiency 51
            severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 5
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          monogenic disease 4712
            X-linked monogenic disease 857
              combined T cell and B cell immunodeficiency 66
                severe combined immunodeficiency 51
                  severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 5
paths to the root

NHLBI Logo

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