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


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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
ISS
ClinVar Annotator: match by term: Methylcobalamin deficiency type cblG
OMIM:250940
ClinVar
MouseDO
PMID:8968736 PMID:8968737 PMID:9235907 PMID:9536098 PMID:9683607 PMID:12068375 PMID:16199547 PMID:17576681 PMID:20890936 PMID:21615938 PMID:22887477 PMID:25526710 PMID:25558065 PMID:25741868 PMID:25856670 PMID:26198278 PMID:28210839 PMID:28492532 PMID:28666289 PMID:32581362 NCBI chr17:66,210,444...66,295,014
Ensembl chr17:66,210,461...66,295,014
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Nutritional and Metabolic Diseases 5514
      disease of metabolism 5514
        inherited metabolic disorder 2607
          amino acid metabolic disorder 448
            homocystinuria-megaloblastic anemia cblG type 1
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          monogenic disease 7121
            autosomal genetic disease 6276
              autosomal recessive disease 3443
                homocystinuria-megaloblastic anemia cblG type 1
paths to the root