Rare Disease Library

Otopalatodigital syndrome spectrum disorder

OPSD · OPD spectrum disorder

Autism spectrum disorder due to AUTS2 deficiency

ASD due to AUTS2 deficiency · AUTS2 syndrome

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

Chronic bilirubin encephalopathy

CBE · Kernicterus spectrum disorder

Fetal alcohol syndrome

ARBD · ARND

Fetal valproate spectrum disorder

Fetal valproic acid syndrome · Valproic acid embryopathy

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Oculo-auriculo-vertebral spectrum

OAV spectrum · Oculoauriculovertebral spectrum

Peroxisome biogenesis disorder

Peroxisome biogenesis disorder spectrum · Peroxisome biogenesis disorder-Zellweger spectrum disorder

Placenta accreta spectrum disorder

PAS · Abnormally invasive placenta

Rare pervasive developmental disorder

Rare autism spectrum disorder · Rare PDD

Specific language disorder

Dysphasia

Specific learning disability

Specific learning difficulty · Specific learning disorder

Stiff person spectrum disorder

Stiff man spectrum disorder · Moersch-Woltman syndrome