Rare Disease Library

Osteogenesis imperfecta type 4

OI type 4

Autoimmune polyendocrinopathy type 4

APS type 4 · APS4

Congenital dyserythropoietic anemia type IV

CDA IV · CDA due to KLF1 mutation

Congenital generalized lipodystrophy type 4

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

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

Osteogenesis imperfecta type 1

Adair-Dighton syndrome · Mild osteogenesis imperfecta

Osteogenesis imperfecta type 2

Lethal osteogenesis imperfecta · OI type 2

Osteogenesis imperfecta type 3

OI type 3 · Progressive deforming osteogenesis imperfecta

Osteogenesis imperfecta type 5

OI type 5

Proximal spinal muscular atrophy type 4

Kugelberg-Welander disease · SMA

Temperature-sensitive oculocutaneous albinism type 1

OCA1-TS · TS OCA type 1