Rare Disease Library

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Salla disease

Scapuloperoneal spinal muscular atrophy

Kugelberg-Welander disease · Neurogenic scapuloperoneal amyotrophy, New England type

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

Spinal muscular atrophy associated with central nervous system anomaly

Kugelberg-Welander disease · SMA

Spinal muscular atrophy with respiratory distress type 1

Autosomal recessive distal spinal muscular atrophy type 1 · Autosomal recessive spinal muscular atrophy with respiratory distress

Spinal muscular atrophy with respiratory distress type 2

Diaphragmatic spinal muscular atrophy type 2 · Kugelberg-Welander disease

Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome

Kugelberg-Welander disease · SMA

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Hereditary myoclonus-progressive distal muscular atrophy syndrome · Jankovic-Rivera syndrome

Systemic-onset juvenile idiopathic arthritis

Still disease · Systemic-onset JIA

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

Thomsen and Becker disease

Myotonia congenita

Transgrediens et progrediens palmoplantar keratoderma

Greither disease · Keratosis extremitatum hereditaria progrediens

Tropical endomyocardial fibrosis

Davies disease · TEMF

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

Wilson disease

Hepatolenticular degeneration

Wolman disease

X-linked distal spinal muscular atrophy type 3

ATP7A-related distal motor neuropathy · DSMAX

X-linked lymphoproliferative disease

Duncan disease · Purtilo syndrome