Rare Disease Library

Anterior cutaneous nerve entrapment syndrome

ACNES · Intercostal nerve syndrome

ABCD syndrome

Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural deafness syndrome · Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural hearing loss syndrome

Antisynthetase syndrome

AS syndrome · Anti-Jo1 syndrome

Carnevale syndrome

3MC2 syndrome · Carnevale-Krajewska-Fischetto syndrome

Hereditary leiomyomatosis and renal cell cancer

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

Pentalogy of Cantrell

Cantrell deformity · Cantrell syndrome

Progressive deafness with stapes fixation

Stapedo-vestibular ankylosis · Thies-Reis syndrome

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

ATRUS syndrome

Recombinant 8 syndrome

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

Rett syndrome

Revesz syndrome

Dyskeratosis congenita with bilateral exudative retinopathy · Retinopathy-anemia-central nervous system anomalies syndrome

Reye syndrome

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Townes-Brocks syndrome

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