Rare Disease Library

Osteogenesis imperfecta

Brittle bone disease · Glass bone disease

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

Behçet disease

BENTA disease

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

Best vitelliform macular dystrophy

BMD · BVMD

Blount disease

Infantile tibia vara · Osteochondrosis deformans tibiae

Brill-Zinsser disease

Brill disease · Recrudescent typhus

Erythema palmare hereditarium

Lane disease · Red palms disease

Glomerular disease

Gorham-Stout disease

Gorham disease · Gorham syndrome

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

HbSS disease · HPFH-sickle cell disease syndrome

IgA Nephropathy

Berger disease · Berger's disease

Immunoglobulin A nephropathy

Berger disease · IgA nephropathy

Parkinson-dementia complex of Guam

Guam parkinsonism-dementia complex · Guam disease

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Rare bone disease

Rare genetic bone disease

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