Rare Disease Library

Bone sarcoma

Bonnemann-Meinecke-Reich syndrome

Encephalopathy-intracerebral calcification-retinal degeneration syndrome

Böök syndrome

Boomerang dysplasia

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

Borderline vascular tumor

Vascular locally aggressive tumors · Vascular intermediate tumors

Borjeson-Forssman-Lehmann syndrome

BFLS · Intellectual disability-epilepsy-endocrine disorders syndrome

Borna virus encephalitis

Bornavirus encephalitis

Bosley-Salih-Alorainy syndrome

Bothnia retinal dystrophy

Västerbotten dystrophy

Boutonneuse fever

Mediterranean spotted fever

Bowen syndrome

Bowen-Conradi syndrome

Bowen syndrome, Hutterite type

BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome

BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies · BPTF-related NEDDFL

Brachydactylous dwarfism, Mseleni type

Mseleni joint disease

Brachydactyly type A1

Brachydactyly, Farabee type

Brachydactyly type A2

Brachydactyly, Mohr-Wriedt type

Brachydactyly type A4

Brachydactyly, Temtamy type · Brachymesophalangy II and V

Brachydactyly type A5

Brachydactyly type A6

Osebold-Remondini syndrome · Acromesomelic dysplasia, Osebold-Remondini type

Brachydactyly type A7

Brachydactyly, Smorgasbord type

Brachydactyly type B

Brachydactyly type B2

Brachydactyly type C

Brachydactyly type E

Brachydactyly-arterial hypertension syndrome

Bilginturan brachydactyly · Bilginturan syndrome

Brachydactyly-elbow wrist dysplasia syndrome

Brachydactyly-joint dysplasia syndrome · Liebenberg syndrome

Brachydactyly-long thumb syndrome

Brachydactyly, long thumb type

Brachydactyly-mesomelia-intellectual disability-heart defects syndrome

Stratton-Garcia-Young syndrome

Brachydactyly-nystagmus-cerebellar ataxia syndrome

Biemond syndrome

Brachydactyly-preaxial hallux varus syndrome

Brachydactyly-short stature-retinitis pigmentosa syndrome

Brachydactyly-syndactyly, Zhao type

Brachymorphism-onychodysplasia-dysphalangism syndrome

BOD syndrome · Senior syndrome

Brachyolmia

Brachyolmia type 1, Hobaek type

Brachyolmia type 1, Toledo type

Brachyolmia-amelogenesis imperfecta syndrome

Platyspondyly-amelogenesis imperfecta syndrome · Verloes-Bourguignon syndrome

Brachyolmia, Maroteaux type

Brachyolmia type 2

Brachytelephalangic chondrodysplasia punctata

Brachytelephalangy-dysmorphism-Kallmann syndrome

Braddock syndrome

Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency

Braddock-Carey syndrome

Thrombocytopenia-Robin sequence syndrome

Bradyopsia

PERRS · Prolonged electroretinal response suppression

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome

Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language · MEF2C-related syndrome

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation

Brain arteriovenous malformation

Cerebral arteriovenous malformation

Brain dopamine-serotonin vesicular transport disease