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 ×

Amyotrophic lateral sclerosis

ALS · Charcot disease

ORPHA:803

Amyotrophic lateral sclerosis type 4

ALS · ALS4

ORPHA:357043

Genetic neuro-ophthalmological disease

ORPHA:183616

Juvenile amyotrophic lateral sclerosis

ALS · Charcot disease

ORPHA:300605

Monogenic disease with epilepsy

ORPHA:166472

Neuro-ophthalmological disease

ORPHA:140653

Rare genetic neurological disorder

ORPHA:71859

Rare neurologic disease

Rare nervous system disease

ORPHA:98006