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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 cblE type
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Accession:DOID:0112255 term browser browse the term
Definition:An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine 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 the MTRR gene on chromosome 5p15.31. (DO)
Synonyms:exact_synonym: HMAE;   HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE;   Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblE Complementation Type;   Methylcobalamin Deficiency, CblE Type;   Vitamin B12-Responsive Homocystinuria, CblE Type;   functional methionine synthase deficiency type cblE
 primary_id: MESH:C565510
 alt_id: DOID:9005758;   OMIM:236270
 xref: NCI:C142173;   ORDO:2169


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homocystinuria-megaloblastic anemia cblE type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO ClinVar Annotator: match by term: Methylcobalamin deficiency type cblE OMIM
ClinVar		 PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 PMID:10444342 More... NCBI chr16:74,245,214...74,270,828
Ensembl chr16:74,245,228...74,270,783 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15289
    disease of anatomical entity 14926
      musculoskeletal system disease 7703
        connective tissue disease 5255
          homocystinuria 86
            homocystinuria-megaloblastic anemia cblE type 1
Path 2
Term Annotations click to browse term
  disease 15289
    Nutritional and Metabolic Diseases 7091
      disease of metabolism 7091
        acquired metabolic disease 2207
          nutrition disease 805
            Malnutrition 251
              nutritional deficiency disease 236
                Avitaminosis 196
                  Vitamin B Deficiency 151
                    hyperhomocysteinemia 121
                      homocystinuria 86
                        homocystinuria-megaloblastic anemia cblE type 1
paths to the root