OBO ID: DOID:0112256
Term Name: homocystinuria-megaloblastic anemia cblG type Search Ontology:
Synonyms:
  • HMAG
  • homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type
  • homocystinuria-megaloblastic anemia, cblG complementation type
  • methylcobalamin deficiency, cblG type
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. (2)
References:
Ontology: Human Disease   ( DOID:0112256 )
Relationships
is a type of:
OTHER homocystinuria-megaloblastic anemia cblG type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MTR Homocystinuria-megaloblastic anemia, cblG complementation type 250940
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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