Rare Disease Library

Panner disease

Aseptic necrosis of the capital humerus · Osteochondrosis of the capital humerus

Parkinson-dementia complex of Guam

Guam parkinsonism-dementia complex · Guam disease

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

Salla disease

Sandhoff disease

Schilder disease

Myelinoclastic diffuse sclerosis

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

Subacute sclerosing leukoencephalitis

Dawson encephalitis · SSPE

Systemic-onset juvenile idiopathic arthritis

Still disease · Systemic-onset JIA

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy