Rare Disease Library

Autosomal systemic lupus erythematosus

Autosomal SLE · Disseminated lupus erythematosus

Autosomal anomaly syndrome

Autosomal dominant distal hereditary motor neuropathy

Autosomal dominant dHMN · Autosomal dominant distal spinal muscular atrophy

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy type 3 · OPA3, autosomal dominant

Autosomal dominant pure spastic paraplegia

Autosomal dominant pure HSP · Autosomal dominant pure SPG

Autosomal monosomy syndrome

Autosomal deletion

Autosomal trisomy syndrome

Autosomal duplication

Congenital hereditary endothelial dystrophy type I

Autosomal dominant CHED · Autosomal dominant congenital hereditary endothelial dystrophy

Partial autosomal deletion syndrome

Partial autosomal monosomy

Renal pseudohypoaldosteronism type 1

Renal PHA1 · Autosomal dominant pseudohypoaldosteronism type 1