Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

8 matching diseasesClear search ×

Fetal alcohol syndrome

ARBD · ARND

ORPHA:1915

BOR syndrome

Branchiootorenal syndrome · Branchiootorenal spectrum disorder

ORPHA:107

Chronic bilirubin encephalopathy

CBE · Kernicterus spectrum disorder

ORPHA:529808

Fetal valproate spectrum disorder

Fetal valproic acid syndrome · Valproic acid embryopathy

ORPHA:1906

Otopalatodigital syndrome spectrum disorder

OPSD · OPD spectrum disorder

ORPHA:364541

Placenta accreta spectrum disorder

PAS · Abnormally invasive placenta

ORPHA:662721

Rare pervasive developmental disorder

Rare autism spectrum disorder · Rare PDD

ORPHA:168778

Stiff person spectrum disorder

Stiff man spectrum disorder · Moersch-Woltman syndrome

ORPHA:3198