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ONTOLOGY REPORT - ANNOTATIONS


Term:COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
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Accession:DOID:9009055 term browser browse the term
Definition:An inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. (OMIM)
Synonyms:exact_synonym: CIMAH;   METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1 DEFICIENCY
 primary_id: OMIM:617780
For additional species annotation, visit the Alliance of Genome Resources.


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COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 JBrowse link 6 99,282,850 99,350,367 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    syndrome 5163
      primary immunodeficiency disease 957
        COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      Hemic and Lymphatic Diseases 0
        hematopoietic system disease 1451
          anemia 376
            macrocytic anemia 14
              megaloblastic anemia 10
                COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.