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"

12 matching diseasesClear search ×

Congenital pulmonary airway malformation type 3

CCAM type 3 · CPAM type 3

ORPHA:280847

ALG6-CDG

CDG syndrome type Ic · CDG-Ic

ORPHA:79320

Choledochal cyst

Congenital cystic dilatation of the biliary tract

ORPHA:480501

Congenital CLN10 disease

CNCL · Congenital neuronal ceroid lipofuscinosis type 10

ORPHA:700487

Congenital cystic eye

Congenital anophthalmos with cyst

ORPHA:519384

Congenital pulmonary airway malformation

CCAM · CPAM

ORPHA:2444

Congenital pulmonary airway malformation type 0

CPAM type 0 · Congenital cystic adenomatoid malformation of the lung type 0

ORPHA:280827

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 4

CPAM type 4 · Congenital cystic adenomatoid malformation of the lung type 4

ORPHA:280854

Congenital-onset Steinert myotonic dystrophy

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

ORPHA:589821

Fetal methylmercury syndrome

Prenatal methylmercury poisoning · Congenital Minamata disease

ORPHA:1917