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"

13 matching diseasesClear search ×

Congenital-onset Steinert myotonic dystrophy

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

ORPHA:589821

Adult-onset Steinert myotonic dystrophy

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

ORPHA:589830

Adult-onset Still disease

AOSD · Wissler-Fanconi syndrome

ORPHA:829

Childhood-onset Steinert myotonic dystrophy

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

ORPHA:589824

Congenital CLN10 disease

CNCL · Congenital neuronal ceroid lipofuscinosis type 10

ORPHA:700487

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

Fetal methylmercury syndrome

Prenatal methylmercury poisoning · Congenital Minamata disease

ORPHA:1917

Juvenile-onset Steinert myotonic dystrophy

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

ORPHA:589827

Late-onset Steinert myotonic dystrophy

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

ORPHA:589833

Steinert myotonic dystrophy

Myotonic dystrophy type 1 · Steinert disease

ORPHA:273