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"

10 matching diseasesClear search ×

Fetal methylmercury syndrome

Prenatal methylmercury poisoning · Congenital Minamata disease

ORPHA:1917

Congenital CLN10 disease

CNCL · Congenital neuronal ceroid lipofuscinosis type 10

ORPHA:700487

Congenital microcoria

Congenital miosis

ORPHA:566

Congenital pulmonary airway malformation

CCAM · CPAM

ORPHA:2444

Congenital pulmonary airway malformation type 1

CCAM type 1 · CPAM type 1

ORPHA:280832

Congenital pulmonary airway malformation type 2

CCAM type 2 · CPAM type 2

ORPHA:280840

Congenital pulmonary airway malformation type 3

CCAM type 3 · CPAM type 3

ORPHA:280847

Congenital-onset Steinert myotonic dystrophy

Congenital-onset Steinert disease · Congenital-onset myotonic dystrophy type 1

ORPHA:589821

Pulmonary arterial hypertension associated with congenital heart disease

PAH · PAH associated with congenital heart disease

ORPHA:275803

Rare urogenital disease

ORPHA:101433