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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:Methylenetetrahydrofolate Reductase Deficiency
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Accession:DOID:9001648 term browser browse the term
Synonyms:exact_synonym: GENERALIZED CEREBRAL ATROPHY/HYPOPLASIA;   HOMOCYSTEINEMIA DUE TO MTHFR DEFICIENCY;   HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY;   Homocystinuria due to MTHFR Deficiency
 narrow_synonym: MTHFR DEFICIENCY MTHFR DEFICIENCY, THERMOLABILE TYPE
 xref: MESH:C537357;   MIM:236250;   MONDO:0009353;   NCI:C84524


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Methylenetetrahydrofolate Reductase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5h1orf167 similar to human chromosome 1 open reading frame 167 ISO ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency ClinVar PMID:25741868 NCBI chr 5:158,495,514...158,505,671 JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO ClinVar Annotator: match by term: Generalized cerebral atrophy/hypoplasia | ClinVar Annotator: match by term: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | ClinVar Annotator: match by term: Homocysteinemia due to MTHFR deficiency | ClinVar Annotator: match by term: Homocystinuria due to MTHFR deficiency
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
OMIM		 PMID:1522835 PMID:3347350 PMID:3580562 PMID:6381059 PMID:7564788 More... NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      musculoskeletal system disease 8469
        connective tissue disease 5925
          homocystinuria 89
            Methylenetetrahydrofolate Reductase Deficiency 2
Path 2
Term Annotations click to browse term
  disease 19145
    Nutritional and Metabolic Diseases 8546
      disease of metabolism 8546
        acquired metabolic disease 2545
          nutrition disease 1035
            Malnutrition 283
              nutritional deficiency disease 263
                Avitaminosis 219
                  Vitamin B Deficiency 158
                    hyperhomocysteinemia 126
                      homocystinuria 89
                        Methylenetetrahydrofolate Reductase Deficiency 2
paths to the root