ONTOLOGY REPORT - ANNOTATIONS


Term:IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
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Accession:DOID:9009072 term browser browse the term
Definition:A multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. (OMIM)
Synonyms:exact_synonym: IMDDHH
 primary_id: OMIM:617744
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IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nfe2l2 nuclear factor, erythroid 2-like 2 JBrowse link 3 62,497,568 62,525,146 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      primary immunodeficiency disease 930
        IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          brain disease 6412
            disease of mental health 4323
              Neurodevelopmental Disorders 2755
                Developmental Disabilities 342
                  IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.