Rare Disease Library

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

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

Buerger disease

Thromboangiitis obliterans

Cap myopathy

Cap disease

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

Dermatitis herpetiformis

Duhring-Brocq disease

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

IgA Nephropathy

Berger disease · Berger's disease

Immunoglobulin A nephropathy

Berger disease · IgA nephropathy

Insulin autoimmune syndrome

Hirata disease

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Mueller-Weiss syndrome

Mueller-Weiss osteonecrosis of the tarsal bone · Brailsford disease

Neuronal ceroid lipofuscinosis

NCL · NCL disease

Osteogenesis imperfecta

Brittle bone disease · Glass bone disease

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Senior-Boichis syndrome

Boichis disease · Nephronophthisis-hepatic fibrosis syndrome

Sickle cell S-E disease

HbSE disease · Hemoglobin S-E disease