.
homocystinuria-megaloblastic anemia cblG type - Ontology Report - Rat Genome Database

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:homocystinuria-megaloblastic anemia cblG type
go back to main search page
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


GViewer not supported for the selected species.

show annotations for term's descendants           Sort by:
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 chrNW_004955492:3,372,915...3,474,173
Ensembl chrNW_004955492:3,376,512...3,474,180
JBrowse link
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG ClinVar PMID:25741868 NCBI chrNW_004955504:5,412,290...5,435,409
Ensembl chrNW_004955504:5,413,586...5,435,645
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14336
    disease of anatomical entity 14029
      Skin and Connective Tissue Diseases 6631
        connective tissue disease 5060
          homocystinuria 80
            Homocystinuria-Megaloblastic Anemia 3
              homocystinuria-megaloblastic anemia cblG type 2
Path 2
Term Annotations click to browse term
  disease 14336
    Nutritional and Metabolic Diseases 6990
      disease of metabolism 6990
        acquired metabolic disease 2121
          nutrition disease 769
            Malnutrition 242
              nutritional deficiency disease 226
                Avitaminosis 187
                  Vitamin B Deficiency 142
                    hyperhomocysteinemia 111
                      homocystinuria 80
                        Homocystinuria-Megaloblastic Anemia 3
                          homocystinuria-megaloblastic anemia cblG type 2
paths to the root