Rare Disease Library

Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis

Bourneville disease · PKDTS

Tuberous sclerosis complex

Bourneville disease · Bourneville syndrome

BENTA disease

B-cell expansion with NF-kB and T-cell anergy disease

Best vitelliform macular dystrophy

BMD · BVMD

Brill-Zinsser disease

Brill disease · Recrudescent typhus

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Devic disease · Devic syndrome

Osteogenesis imperfecta

Brittle bone disease · Glass bone disease

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

Rare bone disease

Senior-Boichis syndrome

Boichis disease · Nephronophthisis-hepatic fibrosis syndrome

Systemic-onset juvenile idiopathic arthritis

Still disease · Systemic-onset JIA