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"

9 matching diseasesClear search ×

Dementia pugilistica

Boxer's dementia · Chronic traumatic encephalopathy

ORPHA:97353

Bilirubin encephalopathy

Kernicterus

ORPHA:415286

Chronic bilirubin encephalopathy

CBE · Kernicterus spectrum disorder

ORPHA:529808

Chronic encephalitis

ORPHA:98255

Early myoclonic encephalopathy

Early myoclonic encephalopathy with suppression-bursts

ORPHA:1935

Ethylmalonic encephalopathy

ORPHA:51188

Glycine encephalopathy

NKA · Non-ketotic hyperglycinemia

ORPHA:407

Neonatal glycine encephalopathy

Classic glycine encephalopathy · Neonatal NKH

ORPHA:289857

Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

Severe neurodegenerative syndrome due to BSCL2 deficiency · Celia encephalopathy

ORPHA:363400