Rare Disease Library

Congenital dyserythropoietic anemia type III

CDA III · CDA type 3

Autoimmune polyendocrinopathy type 3

APS type 3 · APS3

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 IV

CDA IV · CDA due to KLF1 mutation

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

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

Familial hypocalciuric hypercalcemia type 3

FHH type 3

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Hereditary cryohydrocytosis with reduced stomatin

CHC type 2 · Hereditary cryohydrocytosis type 2

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

MCAHS type 3 · Multiple congenital anomalies-hypotonia-seizures syndrome type 3

Osteogenesis imperfecta type 3

OI type 3 · Progressive deforming osteogenesis imperfecta

Progressive myoclonic epilepsy type 3

EPM3 · PME type 3

Proximal spinal muscular atrophy type 3

Juvenile spinal muscular atrophy · Kugelberg-Welander disease