has material basis in germline mutation in disease has basis in disruption of disease caused by disruption of LMBRD1 lysosomal transport cobalamin transport methylmalonic aciduria and homocystinuria type cblF https://www.malacards.org/card/methylmalonic_aciduria_and_homocystinuria_cblf_type Orphanet:79284 UMLS:C1848578 cblF defect OMIM:277380 NANDO:2201110 MAHCF lysosomal membrane cobalamin transporter deficiency MONDO:0010183 A form of methylmalonic acidemia with homocystinuria, an inborn error of vitamin B12 (cobalamin) metabolism characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures. The disorder is caused by mutations in the LMBRD1 gene (6q13) and is transmitted in an autosomal recessive manner. MESH:C564747 methylmalonic aciduria and homocystinuria type cblF Editor note: TODO - relevant annotation from GO SCTID:80887004 combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF GARD:0003584 MEDGEN:336373 methylmalonic aciduria with homocystinuria, type cblF cobalamin F defect inherited methylmalonic acidemia and homocystinuria DOID:0050717 methylmalonic aciduria and homocystinuria