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ONTOLOGY REPORT - ANNOTATIONS


Term:Immunodeficiency 49
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Accession:DOID:9004592 term browser browse the term
Synonyms:exact_synonym: IMD49;   SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, WITH INTELLECTUAL DISABILITY, SPASTICITY, AND CRANIOFACIAL ABNORMALITIES;   SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, WITH INTELLECTUAL DISABILITY, SPASTICITY, AND CRANIOFACIAL ABNORMALITIES
 primary_id: OMIM:617237;   RDO:9001614
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Immunodeficiency 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcl11b BAF chromatin remodeling complex subunit BCL11B JBrowse link 6 131,834,097 131,927,251 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      primary immunodeficiency disease 978
        Immunodeficiency 49 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      Immune & Inflammatory Diseases 3120
        immune system disease 2541
          primary immunodeficiency disease 978
            Immunodeficiency 49 1
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.