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 ×

Benign idiopathic neonatal seizures

BINS · Benign nonfamilial neonatal seizures

ORPHA:64545

Keppen-Lubinsky syndrome

Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome

ORPHA:435628

OBSOLETE: Binswanger disease

ORPHA:1249

Rubinstein-Taybi syndrome

Broad thumb-hallux syndrome · Broad thumbs-halluces syndrome

ORPHA:783

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

ORPHA:353281

Rubinstein-Taybi syndrome due to CREBBP mutations

ORPHA:353277

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

ORPHA:353284

Chronic bilirubin encephalopathy

CBE · Kernicterus spectrum disorder

ORPHA:529808