Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.



show annotations for term's descendants           Sort by:
 
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 OMIM
ClinVar
PMID:11004530 PMID:15633187 PMID:16315005 PMID:16552426 PMID:17894836 More... NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18213
    Nutritional and Metabolic Diseases 6779
      disease of metabolism 6779
        inherited metabolic disorder 4683
          Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia 1
Path 2
Term Annotations click to browse term
  disease 18213
    disease of anatomical entity 17574
      Hemic and Lymphatic Diseases 3424
        hematopoietic system disease 2965
          anemia 778
            macrocytic anemia 25
              megaloblastic anemia 19
                Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia 1
paths to the root