Rare Disease Library

Isolated focal cortical dysplasia type II

Cortical dysplasia, Taylor type · FCD type II

Isolated focal cortical dysplasia type IIa

FCD type IIa

Isolated focal cortical dysplasia type IIb

FCD type IIb

Alexander disease type I

AxD type I

Alexander disease type II

AxD type II

Carvajal syndrome

Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome · Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

Congenital dyserythropoietic anemia type I

CDA I · CDA type 1

Congenital dyserythropoietic anemia type II

CDA II · CDA type 2

Congenital dyserythropoietic anemia type III

CDA III · CDA type 3

Danon disease

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

Familial hypocalciuric hypercalcemia type 1

FHH type 1

Familial hypocalciuric hypercalcemia type 2

FHH type 2

Familial hypocalciuric hypercalcemia type 3

FHH type 3

Focal facial dermal dysplasia type I

Bitemporal aplasia cutis congenita · Brauer syndrome

Focal facial dermal dysplasia type II

FFDD type II · FFDD2

Focal facial dermal dysplasia type III

FFDD type III · FFDD3

Focal facial dermal dysplasia type IV

FFDD type IV · FFDD4

Glycogen storage disease due to acid maltase deficiency

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

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

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

Microcephalic osteodysplastic primordial dwarfism type II

MOPD type II · Majewski osteodysplastic primordial dwarfism type II

Mixed cryoglobulinemia type II

MC type II

Mixed cryoglobulinemia type III

MC type III

Proximal spinal muscular atrophy type 1

Infantile spinal muscular atrophy · Infantile-onset spinal muscular atrophy

Proximal spinal muscular atrophy type 2

Intermediate spinal muscular atrophy · Kugelberg-Welander disease

Proximal spinal muscular atrophy type 3

Juvenile spinal muscular atrophy · Kugelberg-Welander disease

Split cord malformation type I

Diastematomyelia · SCM type I

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia