Additional Disease Briefs

bent bone dysplasia syndrome 1

Also known as: BBDS, FGFR2-related bent bone dysplasia, bent bone dysplasia (BBD)-FGFR2 type, bent bone dysplasia syndrome, perinatal lethal bent bone dysplasia

bent bone dysplasia syndrome 2

BENTA disease

Also known as: B-cell expansion with NF-kB and T-cell anergy disease, B-cell expansion with NFKB and T-cell anergy, BENTA

Berardinelli-Seip congenital lipodystrophy

Berk-Tabatznik syndrome

Also known as: Berk Tabatznik syndrome, cleft nare, brachydactyly, short stature dwarfism, cleft nare, brachydactyly, short stature-dwarfism, congenital optic atrophy and brachytelephalangy, kyphosis brachyphalangy optic atrophy, short stature, congenital optic atrophy, and hypoplasia of the cervical vertebral bodies and distal phalanges

Bernard-Soulier syndrome, type A2, autosomal dominant

Also known as: BSSA2, Bernard-Soulier syndrome type A2, Bernard-Soulier syndrome, type A2 (dominant), Bernard-Soulier syndrome, type A2, autosomal dominant

beta-ketothiolase deficiency

Also known as: 2-Methyl-3-hydroxybutyric acidemia, 2-methyl-3-hydroxybutyricacidemia, 3-Ktd deficiency, 3-ketothiolase deficiency, 3-oxothiolase deficiency, ALPHA-methylacetoacetic aciduria, Alpha methylacetoacetic aciduria, Alpha-methyl-acetoacetyl-CoA thiolase deficiency, BKT, Beta ketothiolase deficiency, Mat deficiency, T2 deficiency, alpha-methylacetoaceticaciduria, beta-ketothiolase deficiency, mitochondrial acetoacetyl-CoA thiolase deficiency, mitochondrial acetoacetyl-Coa thiolase deficiency, mitochondrial acetoacetyl-coenzyme A thiolase deficiency, peroxisomal thiolase deficiency

beta-mannosidosis

Also known as: Beta-D-mannosidosis, Beta-mannosidase deficiency, MANSB, beta-mannosidase deficiency, beta-mannosidosis, lysosomal Beta-mannosidase deficiency, lysosomal beta-mannosidase deficiency, mannosidosis, BETA A, lysosomal, mannosidosis, beta