Rare Disease Library

Darier disease

Darier-White disease · Keratosis follicularis

Danon disease

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

Histoplasmosis

Darling disease

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

Ménétrier disease

Hypoproteinemic hypertrophic gastropathy · Giant hypertrophic gastritis

Ollier disease

Multiple Enchondromatosis type I · Enchondromatosis Spranger type I

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Progressive symmetric erythrokeratodermia

Darier-Gottron disease · Erythrokeratodermia progressiva symmetrica

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

Tropical endomyocardial fibrosis

Davies disease · TEMF

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

Whipple disease

Intestinal lipodystrophy