Additional Disease Briefs

methylmalonic aciduria and homocystinuria type cblD

Also known as: MAHCD, Mehtylmalonic acidemia with homocystinuria cbI d, cblD - cobalamin locus d, cblD defect, cblD methylmalonic acidemia and homocystinuria, cobalamin D defect, cobalamin D deficiency, cobalamin d disease, combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD, homocystinuria, cblD type, variant 1, homocystinuria, cblD type, variant 1, included, m0e.321 cobalamin locus d variant, methylmalonic acidemia and homocystinuria, cblD type, methylmalonic acidemia with homocystinuria type cblD, methylmalonic acidemia with homocystinuria, type cblD, methylmalonic acidemia, Cblh type, methylmalonic acidemia, Cblh type, formerly, methylmalonic aciduria and homocystinuria type cblD, methylmalonic aciduria and homocystinuria, cblD type, methylmalonic aciduria with homocystinuria, type cblD, methylmalonic aciduria, Cblh type, methylmalonic aciduria, Cblh type, formerly, methylmalonic aciduria, cblD type, variant 2, methylmalonic aciduria, cblD type, variant 2, included

methylmalonic aciduria and homocystinuria type cblF

Also known as: MAHCF, cblF defect, cblF methylmalonic acidemia and homocystinuria, cobalamin F defect, cobalamin F deficiency, cobalamin F disease, cobalamin locus f variant, cobalamin, defect in lysosomal release of, combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF, inherited methylmalonic acidemia and homocystinuria, lysosomal membrane cobalamin transporter deficiency, methylmalonic acidemia and homocystinuria, cblF type, methylmalonic acidemia with homocystinuria type cblF, methylmalonic aciduria and homocystinuria type cblF, methylmalonic aciduria and homocystinuria, cblF type, methylmalonic aciduria due to vitamin B12-release defect, methylmalonic aciduria with homocystinuria, type cblF, vitamin B12 lysosomal release defect, vitamin B12 storage disease

methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Also known as: MCM deficiency, methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency, methylmalonic acidemia due to methylmalonyl-Coa mutase deficiency MMA due to MCM deficiency, methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, methylmalonic aciduria mut type, methylmalonic aciduria, mut type, methylmalonic aciduria, mut(-) type, methylmalonic aciduria, mut(0) type, methylmalonyl-CoA mutase deficiency, methylmalonyl-Coenzyme A mutase deficiency, vitamin B12-unresponsive methylmalonic acidemia, vitamin B12-unresponsive methylmalonic aciduria

methylmalonic aciduria, cblA type

Also known as: MMA Cbl A type, Methylmalonic aciduria, vitamin B12-responsive, cblA type, cblA - cobalamin locus a, cblA methylmalonic acidemia, cblB - cobalamin locus b, cblB methylmalonic acidemia, cobalamin A disease, cobalamin B disease, cobalamin locus A variant, cobalamin locus B variant, methylmalonic acidemia cblA type, methylmalonic acidemia, cblA type, methylmalonic aciduria cblA type, methylmalonic aciduria, cblA type, methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type, methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type, methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA complementation type, methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type, vitamin B12-responsive methylmalonic acidemia type cblA, vitamin B12-responsive methylmalonic aciduria type cblA

methylmalonic aciduria, cblB type

Also known as: methylmalonic acidemia cblB type, methylmalonic acidemia, cblB type, methylmalonic aciduria cblB type, methylmalonic aciduria, cblB type, methylmalonic aciduria, vitamin B12-responsive, cblB type, methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type, vitamin B12-responsive methylmalonic acidemia type cblB, vitamin B12-responsive methylmalonic aciduria, type cblB

metopic ridging-ptosis-facial dysmorphism syndrome

mevalonic aciduria

Also known as: HIDS, MEVA, MKD, MVA, Mevalonicaciduria, complete mevalonate kinase deficiency, hyperimmunoglobulin D with periodic fever syndrome, mevalonic aciduria

MGAT2-congenital disorder of glycosylation

Also known as: Alkuraya syndrome, CDG 2A, CDG IIa, CDG syndrome type IIa, CDG-IIa, CDG2A, CDGS2, MGAT2-CDG, MGAT2-CDG (CDG-IIa), N-acetylglucosaminyltransferase 2 deficiency, carbohydrate deficient glycoprotein syndrome type IIa, carbohydrate-deficient glycoprotein syndrome type 2, carbohydrate-deficient glycoprotein syndrome, type II, carbohydrate-deficient glycoprotein syndrome, type II, formerly, carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly, congenital disorder of glycosylation type 2a, congenital disorder of glycosylation type IIa, congenital disorder of glycosylation, type IIa, intellectual disability, Growth retardation, prominent columella, and open mouth, mental retardation, Growth retardation, prominent columella, and open mouth

MHC class I deficiency

Also known as: BARE lymphocyte syndrome, type I, BLS type 1, BLS, type I, BLSI, Bare lymphocyte syndrome type 1, Bare lymphocyte syndrome, type 1, Bls, type 1, HLA CLASS I deficiency, HLA Class 1 deficiency, bare lymphocyte syndrome type I, immunodeficiency by defective expression of HLA class 1, immunodeficiency by defective expression of HLA class type 1