Rare Disease Library

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Cardiovascular Gaucher disease · Gaucher disease type 3C

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

Congenital erythropoietic porphyria

CEP · Günther disease

Erythema palmare hereditarium

Lane disease · Red palms disease

Erythroderma desquamativum

Leiner disease

Fetal Gaucher disease

Perinatal lethal Gaucher disease

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

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

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

Huntington disease-like 1

Early-onset prion disease with prominent psychiatric features · HDL1

Huntington disease-like 2

HDL2

Huntington disease-like 3

HDL3

Hyperkalemic periodic paralysis

Adynamia episodica hereditaria · Familial hyperPP

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

Lyme disease

Lyme borreliosis

Non-hereditary late-onset primary lymphedema

Meige-like disease

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Parkinson-dementia complex of Guam

Guam parkinsonism-dementia complex · Guam disease

Pelizaeus-Merzbacher-like disease

PMLD

Transgrediens et progrediens palmoplantar keratoderma

Greither disease · Keratosis extremitatum hereditaria progrediens

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease