Rare Disease Library

Osteogenesis imperfecta type 3

OI type 3 · Progressive deforming osteogenesis imperfecta

Autoimmune polyendocrinopathy type 3

APS type 3 · APS3

Congenital dyserythropoietic anemia type III

CDA III · CDA type 3

Congenital pulmonary airway malformation type 3

CCAM type 3 · CPAM type 3

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

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

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

Osteogenesis imperfecta type 1

Adair-Dighton syndrome · Mild osteogenesis imperfecta

Osteogenesis imperfecta type 2

Lethal osteogenesis imperfecta · OI type 2

Osteogenesis imperfecta type 4

OI type 4

Osteogenesis imperfecta type 5

OI type 5

Progressive myoclonic epilepsy type 3

EPM3 · PME type 3

Proximal spinal muscular atrophy type 3

Juvenile spinal muscular atrophy · Kugelberg-Welander disease

Temperature-sensitive oculocutaneous albinism type 1

OCA1-TS · TS OCA type 1

Tyrosinemia type 3

Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency · Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency