Rare Disease Library

Microcephalic osteodysplastic primordial dwarfism type II

MOPD type II · Majewski osteodysplastic primordial dwarfism type II

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 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

Focal facial dermal dysplasia type II

FFDD type II · FFDD2

Focal facial dermal dysplasia type III

FFDD type III · FFDD3

Glycogen storage disease due to acid maltase deficiency

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

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

Microcephalic osteodysplastic primordial dwarfism types I and III

MOPD types I and III · Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type

Mixed cryoglobulinemia type II

MC type II

Mixed cryoglobulinemia type III

MC type III

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

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A · MOCOD type A

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B · MOCOD type B

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C · MOCOD type C