Additional Disease Briefs

brachydactyly type E2

Also known as: BDE2, PTHLH brachydactyly type E, brachydactyly type E caused by mutation in PTHLH, brachydactyly type E2, brachydactyly, type E2

brachydactyly-arterial hypertension syndrome

brachydactyly-elbow wrist dysplasia syndrome

Also known as: LBNBG, LIEBENBERG syndrome, Liebenberg syndrome, brachydactyly elbow wrist dysplasia, brachydactyly with Joint dysplasia, brachydactyly with joint dysplasia, brachydactyly-joint dysplasia syndrome, carpal synostosis with dysplastic elbow joints and brachydactyly, synostosis, carpal, with dysplastic elbow joints and brachydactyly

brachydactyly-mesomelia-intellectual disability-heart defects syndrome

Also known as: Stratton-Garcia-Young syndrome, brachydactyly mesomelia intellectual disability aortic dilatation mitral valve prolapse and characteristic face, brachydactyly mesomelia mental retardation aortic dilatation mitral valve prolapse and characteristic face

brachydactyly-syndactyly syndrome

Also known as: BDSD, Bdsd, brachydactyly-syndactyly syndrome, brachydactyly-syndactyly, Zhao type, brachydactyly-syndactyly-oligodactyly syndrome

Brachymorphism-onychodysplasia-dysphalangism syndrome

brachyolmia

Also known as: brachyrachia

brachyolmia type 1, Hobaek type

Also known as: BCYM1A, brachyolmia type 1, Hobaek type, brachyolmia, recessive type of Hobaek, spondylodysplasia with Pure brachyolmia

brachyolmia type 1, toledo type

Also known as: BCYM1B, PAPS-chondroitin sulfate sulfotransferase deficiency, PAPS-chondroitin sulphate sulfotransferase deficiency, Sed, chondroitin sulfate type, Sed, chondroitin sulphate type, brachyolmia type 1, Toledo type, spondyloepiphyseal dysplasia tarda, Toledo type

brachyolmia-amelogenesis imperfecta syndrome

Also known as: DASS, STHAG6, Verloes Bourguignon syndrome, Verloes-Bourguignon syndrome, amelogenesis imperfecta and platyspondyly, dental anomalies and short stature, platyspondyly with amelogenesis imperfecta, platyspondyly-amelogenesis imperfecta syndrome, selective tooth agenesis 5, skeletal dysplasia with amelogenesis imperfecta and platyspondyly, tooth agenesis, selective, 6, tooth agenesis, selective, 6, formerly