Rare Disease Library

Brachydactyly type A6

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

Brachydactyly-nystagmus-cerebellar ataxia syndrome

Biemond syndrome

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Congenital central hypoventilation syndrome

CCHS · Ondine syndrome

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

OSLAM syndrome

Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Recombinant 8 syndrome

Duplication 8q/deletion 8p · Rec(8) syndrome

Rett syndrome

Reye syndrome

Reynolds syndrome

Primary biliary cirrhosis and systemic scleroderma

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome