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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 15639
    syndrome 5218
      primary immunodeficiency disease 957
        COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      Hemic and Lymphatic Diseases 1724
        hematopoietic system disease 1452
          anemia 377
            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.