DO_rare_slim has material basis in autosomal recessive disease homocystinuria-megaloblastic anemia cblE type ORDO:2169 disease_ontology 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. MIM:236270 DOID:0112255 HMAE functional methionine synthase deficiency type cblE homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblE complementation type methylcobalamin deficiency, cblE type vitamin B12-responsive homocystinuria, cblE type amino acid metabolic disorder autosomal recessive inheritance