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Disease Ontology Browser
homocystinuria-megaloblastic anemia cblG type (DOID:0112256)
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Synonyms: HMAG; homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type; homocystinuria-megaloblastic anemia, cblG complementation type; methylcobalamin deficiency, cblG type
Alt IDs: OMIM:250940, ORDO:2170
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory