Rare Disease Library

Familial hypocalciuric hypercalcemia type 2

FHH type 2

Activated PI3K-delta syndrome 2

APDS type 2 · APDS2

Autoimmune hepatitis type 2

AIH type 2

Autoimmune pancreatitis type 2

AIP type 2 · Duct-centric pancreatitis

Autoimmune polyendocrinopathy type 2

APS type 2 · APS2

Benign recurrent intrahepatic cholestasis type 2

BRIC type 2 · BRIC2

Classical-like Ehlers-Danlos syndrome type 2

Classical-like EDS type 2 · AEBP1-related Ehlers-Danlos syndrome

Congenital dyserythropoietic anemia type II

CDA II · CDA type 2

Congenital pulmonary airway malformation type 2

CCAM type 2 · CPAM type 2

Danon disease

GSD due to LAMP-2 deficiency · Glycogenosis due to LAMP-2 deficiency

Dihydropteridine reductase deficiency

Hyperphenylalaninemia due to dihydropteridine reductase deficiency · PKU type 2

Familial hypocalciuric hypercalcemia

FBH · FBHH

Familial hypocalciuric hypercalcemia type 1

FHH type 1

Familial hypocalciuric hypercalcemia type 3

FHH type 3

Feingold syndrome type 2

Brachydactyly-short stature-microcephaly syndrome · Brunner-Winter syndrome type 2

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Glycogen storage disease due to acid maltase deficiency

Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency

Hereditary cryohydrocytosis with reduced stomatin

CHC type 2 · Hereditary cryohydrocytosis type 2

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

Lafora disease

EPM2 · PME type 2

Multiple congenital anomalies-hypotonia-seizures syndrome type 2

MCAHS type 2

Osteogenesis imperfecta type 2

Lethal osteogenesis imperfecta · OI type 2

Proximal spinal muscular atrophy type 2

Intermediate spinal muscular atrophy · Kugelberg-Welander disease

REN-related autosomal dominant tubulointerstitial kidney disease

FJHN type 2 · Familial juvenile hyperuricemic nephropathy type 2

Spondyloepimetaphyseal dysplasia, Missouri type

SEMD type 2 · SEMD, Missouri type

Timothy syndrome type 2

TS2 · LQT8 type 2