Rare Disease Library

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

Rare skin disease

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Salla disease

Sandhoff 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

Stargardt disease

Fundus flavimaculatus · Stargardt 1

Steinert myotonic dystrophy

Myotonic dystrophy type 1 · Steinert disease

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

Tay-Sachs disease

Beta-hexosaminidase subunit alpha deficiency · GM2 gangliosidosis, Tay-Sachs variant

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