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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
 broad_synonym: MTHFD1-RELATED CONDITION
 primary_id: OMIM:617780



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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
OMIM
PMID:11004530 PMID:15633187 PMID:16199547 PMID:16315005 PMID:16552426 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 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        inherited metabolic disorder 6212
          Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      Hemic and Lymphatic Diseases 3854
        hematopoietic system disease 3344
          anemia 778
            macrocytic anemia 28
              megaloblastic anemia 21
                Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia 1
paths to the root