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Disease Ontology Browser
homocystinuria-megaloblastic anemia cblE type (DOID:0112255)
Alliance: disease page
Synonyms: functional methionine synthase deficiency type cblE; HMAE; homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type; methylcobalamin deficiency, cblE type; vitamin B12-responsive homocystinuria, cblE type
Alt IDs: OMIM:236270, ORDO:2169
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 the MTRR gene on chromosome 5p15.31.

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
12/10/2024
MGI 6.24 		The Jackson Laboratory