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"

11 matching diseasesClear search ×

Neonatal glycine encephalopathy

Classic glycine encephalopathy · Neonatal NKH

ORPHA:289857

Atypical glycine encephalopathy

Atypical NKA · Atypical non-ketotic hyperglycinemia

ORPHA:289863

Bilirubin encephalopathy

Kernicterus

ORPHA:415286

Chronic bilirubin encephalopathy

CBE · Kernicterus spectrum disorder

ORPHA:529808

Classic lissencephaly

Lissencephaly type 1

ORPHA:102009

Dementia pugilistica

Boxer's dementia · Chronic traumatic encephalopathy

ORPHA:97353

Early myoclonic encephalopathy

Early myoclonic encephalopathy with suppression-bursts

ORPHA:1935

Ethylmalonic encephalopathy

ORPHA:51188

Glycine encephalopathy

NKA · Non-ketotic hyperglycinemia

ORPHA:407

Infantile glycine encephalopathy

Infantile NKH · Infantile non-ketotic hyperglycinemia

ORPHA:289860

Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

Severe neurodegenerative syndrome due to BSCL2 deficiency · Celia encephalopathy

ORPHA:363400