Rare Disease Library

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Addison disease

Primary Addison disease · Autoimmune adrenalitis

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

Classic glucose transporter type 1 deficiency syndrome

De Vivo disease · Classic GLUT1 deficiency syndrome

Danon disease

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

Darier disease

Darier-White disease · Keratosis follicularis

Giant cell arteritis

Horton disease · Temporal arteritis

Gorham-Stout disease

Gorham disease · Gorham syndrome

Mosaic neurofibromatosis type 1

MNF1 · Mosaic NF1

Neurofibromatosis type 1

neurofibromatosis type I · NF-1

Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

NF-1 · NF1

Occult macular dystrophy

OCMD · OMD

Ollier disease

Multiple Enchondromatosis type I · Enchondromatosis Spranger type I

Parkinson-dementia complex of Guam

Guam parkinsonism-dementia complex · Guam disease

Polycythemia vera

Acquired primary erythrocytosis · Osler-Vaquez disease

Progressive symmetric erythrokeratodermia

Darier-Gottron disease · Erythrokeratodermia progressiva symmetrica

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease

Von Willebrand disease

Hereditary von Willebrand disease · Hereditary pseudohaemophilia

Wilson disease

Hepatolenticular degeneration