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"

16 matching diseasesClear search ×

Congenital pulmonary airway malformation type 4

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

ORPHA:280854

Autoimmune polyendocrinopathy type 4

APS type 4 · APS4

ORPHA:227990

Congenital dyserythropoietic anemia type I

CDA I · CDA type 1

ORPHA:98869

Congenital dyserythropoietic anemia type II

CDA II · CDA type 2

ORPHA:98873

Congenital dyserythropoietic anemia type III

CDA III · CDA type 3

ORPHA:98870

Congenital dyserythropoietic anemia type IV

CDA IV · CDA due to KLF1 mutation

ORPHA:293825

Congenital generalized lipodystrophy type 4

GCL4 · Berardinelli-Seip syndrome type 4, BSCL type 4

ORPHA:228429

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 3

CCAM type 3 · CPAM type 3

ORPHA:280847

Glycogen storage disease due to glycogen branching enzyme deficiency

GSD due to glycogen branching enzyme deficiency · GSD type 4

ORPHA:367

Hereditary cryohydrocytosis with reduced stomatin

CHC type 2 · Hereditary cryohydrocytosis type 2

ORPHA:168577

Osteogenesis imperfecta type 4

OI type 4

ORPHA:216820

Proximal spinal muscular atrophy type 4

Kugelberg-Welander disease · SMA

ORPHA:83420