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 ×

Lissencephaly with cerebellar hypoplasia

LCH

ORPHA:86823

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

LCHAD deficiency · LCHADD

ORPHA:5

Colchicine poisoning

ORPHA:31824

Dyggve-Melchior-Clausen disease

ORPHA:239

Hereditary butyrylcholinesterase deficiency

Hereditary pseudocholinesterase deficiency

ORPHA:132

OBSOLETE: Channelopathy due to a neuronal acetylcholine receptor defect

ORPHA:98125

OBSOLETE: Channelopathy due to a skeletal muscle acetylcholine receptor defect

ORPHA:98124

Laryngotracheoesophageal cleft

Laryngo-tracheo-esophageal cleft · LC

ORPHA:2004