Rare Disease Library

Pelizaeus-Merzbacher disease, connatal form

Connatal PMD · Pelizaeus-Merzbacher disease type II

Alexander disease type II

AxD type II

Gaucher disease type 1

Non-cerebral juvenile Gaucher disease

Gaucher disease type 2

Acute neuronopathic Gaucher disease · Infantile cerebral Gaucher disease

Gaucher disease type 3

Cerebral juvenile and adult form of Gaucher disease · Chronic neuronopathic Gaucher disease

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Cardiovascular Gaucher disease · Gaucher disease type 3C

Null syndrome

PLP1 null syndrome · Pelizaeus-Merzbacher disease, null syndrome

Pelizaeus-Merzbacher disease

Diffuse familial brain sclerosis · PMD

Pelizaeus-Merzbacher disease in female carriers

Pelizaeus-Merzbacher disease, classic form

Classic PMD

Pelizaeus-Merzbacher disease, transitional form

Transitional PMD

Pelizaeus-Merzbacher-like disease

PMLD

Pelizaeus-Merzbacher-like disease due to AIMP1 mutation

Pelizaeus-Merzbacher-like disease due to GJC2 mutation

PMLD1

Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

Mitochondrial HSP60 chaperonopathy