Additional Disease Briefs
beta-thalassemia major
Also known as: Beta thalassemia Major, Cooley anaemia, Cooley anemia, Cooley's Anaemia, Cooley's Anemia, Mediterranean anaemia, Mediterranean anemia
beta-thalassemia-X-linked thrombocytopenia syndrome
Also known as: X-linked thrombocytopenia with Beta-thalassemia, XLTT, thrombocytopenia with BETA-thalassemia, X-linked, thrombocytopenia with beta-thalassemia, X-linked, X-linked recessive, thrombocytopenia, Platelet dysfunction, hemolysis, and Imbalanced globin synthesis
beta-ureidopropionase deficiency
Also known as: BETA-ureidopropionase deficiency, Beta-alanine synthase deficiency, UPB1D, beta-ureidopropionase deficiency
Bethlem myopathy 2
Also known as: BTHLM2, Bethlem myopathy 2, Bethlem myopathy caused by mutation in COL12A1, Bethlem myopathy type 2, COL12A1 Bethlem myopathy, EDS, myopathic type, Ehlers-Danlos syndrome, myopathic type, myopathic EDS, myopathic Ehlers-Danlos syndrome
BH4-deficient hyperphenylalaninemia A
Also known as: 6-pyruvoyl tetrahydropterin synthase deficiency, 6-pyruvoyl-tetrahydropterin synthase deficiency, BH4-deficient hyperphenylalaninemia A, Bh4-deficient hyperphenylalaninemia type A, HPABH4A, PTS deficiency, PTS deficiency hyperphenylalaninemia, BH4-deficient, due to partial PTS deficiency, included, hyperphenylalanemia, BH4-deficient, A, hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency, hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency, hyperphenylalaninemia, BH4-deficient A, hyperphenylalaninemia, BH4-deficient, A, hyperphenylalaninemia, BH4-deficient, type A, hyperphenylalaninemia, Bh4-deficient, due to partial PTS deficiency, hyperphenylalaninemia, Bh4-deficient, type a, hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to PTS deficiency, tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency