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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 ISO ClinVar Annotator: match by term: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
ClinVar Annotator: match by term: METHYLENETETRAHYDROFOLATE DEHYDROGENASE 1 DEFICIENCY
ClinVar Annotator: match by term: Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
ClinVar
OMIM
PMID:11004530 PMID:21813566 PMID:23296427 PMID:23402911 PMID:25548164 More... NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Hemic and Lymphatic Diseases 2337
        hematopoietic system disease 1914
          anemia 432
            macrocytic anemia 18
              megaloblastic anemia 12
                Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia 1
paths to the root