Rare Disease Library

Familial hypocalciuric hypercalcemia type 3

FHH type 3

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

FBH · FBHH

Familial hypocalciuric hypercalcemia type 1

FHH type 1

Familial hypocalciuric hypercalcemia type 2

FHH type 2

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

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

Isolated focal cortical dysplasia type I

FCD type I

Isolated focal cortical dysplasia type Ia

FCD type Ia

Isolated focal cortical dysplasia type Ib

FCD type Ib

Isolated focal cortical dysplasia type Ic

FCD type Ic

Isolated focal cortical dysplasia type II

Cortical dysplasia, Taylor type · FCD type II

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

REN-related autosomal dominant tubulointerstitial kidney disease

FJHN type 2 · Familial juvenile hyperuricemic nephropathy type 2