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"

6 matching diseasesClear search ×

Congenital communicating hydrocephalus

Congenital non-obstructive hydrocephalus

ORPHA:269505

Congenital high airway obstruction syndrome

CHAOS

ORPHA:700286

Congenital hydrocephalus

ORPHA:2185

Congenital non-communicating hydrocephalus

Congenital obstructive hydrocephalus

ORPHA:269510

OBSOLETE: Congenital hydromyelia

ORPHA:268874

OBSOLETE: Congenital hydronephrosis

ORPHA:2190