Rare Disease Library

Congenital dyserythropoietic anemia type IV

CDA IV · CDA due to KLF1 mutation

Autoimmune polyendocrinopathy type 4

APS type 4 · APS4

Congenital dyserythropoietic anemia

CDA

Congenital dyserythropoietic anemia type I

CDA I · CDA type 1

Congenital dyserythropoietic anemia type II

CDA II · CDA type 2

Congenital dyserythropoietic anemia type III

CDA III · CDA type 3

Congenital generalized lipodystrophy type 4

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

Congenital pulmonary airway malformation type 0

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

Congenital pulmonary airway malformation type 1

CCAM type 1 · CPAM type 1

Congenital pulmonary airway malformation type 2

CCAM type 2 · CPAM type 2

Congenital pulmonary airway malformation type 3

CCAM type 3 · CPAM type 3

Congenital pulmonary airway malformation type 4

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

Glycogen storage disease due to glycogen branching enzyme deficiency

GSD due to glycogen branching enzyme deficiency · GSD type 4

Hereditary cryohydrocytosis with reduced stomatin

CHC type 2 · Hereditary cryohydrocytosis type 2

Osteogenesis imperfecta type 4

OI type 4

Proximal spinal muscular atrophy type 4

Kugelberg-Welander disease · SMA