Rare Disease Library

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Salla disease

Schilder disease

Myelinoclastic diffuse sclerosis

Senior-Boichis syndrome

Boichis disease · Nephronophthisis-hepatic fibrosis syndrome

Sickle cell disease

HbSS disease · SCD

Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant

HbSS disease · SCD

Sickle cell S-C disease

Hemoglobin S-C disease · HbSC disease

Sickle cell S-D Punjab disease

HbSD disease · Hemoglobin S-D Punjab disease

Sickle cell S-E disease

HbSE disease · Hemoglobin S-E disease

Subacute sclerosing leukoencephalitis

Dawson encephalitis · SSPE

Systemic-onset juvenile idiopathic arthritis

Still disease · Systemic-onset JIA

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

Transgrediens et progrediens palmoplantar keratoderma

Greither disease · Keratosis extremitatum hereditaria progrediens

Tropical endomyocardial fibrosis

Davies disease · TEMF

Tuberous sclerosis complex

Bourneville disease · Bourneville syndrome

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

Whipple disease

Intestinal lipodystrophy

Wilson disease

Hepatolenticular degeneration

Wolman disease

X-linked lymphoproliferative disease

Duncan disease · Purtilo syndrome