ONTOLOGY REPORT - ANNOTATIONS


Term:methylmalonic aciduria and homocystinuria type cblG
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Accession:DOID:0050733 term browser browse the term
Definition:A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism. (DO)
Synonyms:exact_synonym: HMAG;   HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE;   Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblG Complementation Type;   METHIONINE SYNTHASE DEFICIENCY;   Methylcobalamin Deficiency, CblG Type
 primary_id: MESH:C565394;   RDO:0014041
 alt_id: OMIM:250940
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methylmalonic aciduria and homocystinuria type cblG term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase JBrowse link 17 66,210,444 66,295,014 RGD:7240710
RGD:8554872

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  disease 14920
    Nutritional and Metabolic Diseases 4265
      disease of metabolism 4265
        inherited metabolic disorder 1823
          methylmalonic aciduria and homocystinuria type cblG 1
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Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        genetic disease 6451
          inherited metabolic disorder 1823
            amino acid metabolic disorder 341
              organic acidemia 55
                methylmalonic acidemia 32
                  methylmalonic aciduria and homocystinuria type cblG 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.