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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 MTRR 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
For additional species annotation, visit the Alliance of Genome Resources.


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homocystinuria-megaloblastic anemia cblE type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtrr 5-methyltetrahydrofolate-homocysteine methyltransferase reductase ISO ClinVar Annotator: match by OMIM:236270
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type
ClinVar Annotator: match by term: HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE
OMIM
ClinVar
PMID:1060915 PMID:2860337 PMID:6700644 PMID:9501215 PMID:9536098 PMID:10444342 PMID:10484769 PMID:10500018 PMID:10930360 PMID:12375236 PMID:12555939 PMID:12923861 PMID:12971424 PMID:15292234 PMID:15494741 PMID:15714522 PMID:15797993 PMID:15979034 PMID:16013960 PMID:16199547 PMID:17576681 PMID:18368069 PMID:20120036 PMID:22887477 PMID:22992668 PMID:25227144 PMID:25526710 PMID:25741868 PMID:25978498 PMID:28492532 PMID:30041674 PMID:31063268 NCBI chr 1:37,743,089...37,774,485
Ensembl chr 1:37,743,147...37,774,015
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    syndrome 8015
      Malabsorption Syndromes 120
        hyperhomocysteinemia 49
          homocystinuria 13
            homocystinuria-megaloblastic anemia cblE type 1
Path 2
Term Annotations click to browse term
  disease 17126
    Nutritional and Metabolic Diseases 5513
      disease of metabolism 5513
        acquired metabolic disease 2883
          nutrition disease 915
            Malnutrition 220
              nutritional deficiency disease 211
                Avitaminosis 120
                  Vitamin B Deficiency 70
                    hyperhomocysteinemia 49
                      homocystinuria 13
                        homocystinuria-megaloblastic anemia cblE type 1
paths to the root