has material basis in germline mutation in MTRR methylmalonic acidemia methylcobalamin deficiency type cblE https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/homocystinuria_megaloblastic_anemia_cble_type_2 https://www.malacards.org/card/methylmalonic_aciduria_and_homocystinuria_type_cble homocystinuria due to defect in methylation Cbl e homocystinuria-megaloblastic anemia, cbl e type DOID:0050732 homocystinuria-megaloblastic Anaemia due to defect in cobalamin metabolism, cblE complementation type An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia. MONDO:0009354 homocystinuria-megaloblastic anemia, cblE complementation type NANDO:2201109 OMIM:236270 MEDGEN:344640 Orphanet:2169 NCIT:C142173 HMAE methylcobalamin deficiency type cblE UMLS:C1856057 functional methionine synthase deficiency type cblE MESH:C565510 DOID:0112255 GARD:0003576 homocystinuria without methylmalonic aciduria