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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:homocystinuria-megaloblastic anemia cblG type
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Accession:DOID:0112256 term browser browse the term
Definition:An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43. (DO)
Synonyms:exact_synonym: homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type;   methylcobalamin deficiency, cblG type
 xref: GARD:3577


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homocystinuria-megaloblastic anemia cblG type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE | ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar PMID:8968736 PMID:8968737 PMID:9013615 PMID:9235907 PMID:9536098 More... NCBI chr17:62,911,705...62,996,544
Ensembl chr17:62,911,771...62,996,541 		JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar PMID:25741868 NCBI chr 1:36,695,376...36,727,341
Ensembl chr 1:36,695,460...36,727,807 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      Skin and Connective Tissue Diseases 7819
        connective tissue disease 5948
          homocystinuria 90
            Homocystinuria-Megaloblastic Anemia 4
              homocystinuria-megaloblastic anemia cblG type 2
Path 2
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        acquired metabolic disease 2573
          nutrition disease 1037
            Malnutrition 287
              nutritional deficiency disease 267
                Avitaminosis 223
                  Vitamin B Deficiency 160
                    hyperhomocysteinemia 127
                      homocystinuria 90
                        Homocystinuria-Megaloblastic Anemia 4
                          homocystinuria-megaloblastic anemia cblG type 2
paths to the root