Rare Disease Library

Allergic bronchopulmonary aspergillosis

ABPA · Allergic aspergillosis

Addison disease

Primary Addison disease · Autoimmune adrenalitis

Chylomicron retention disease

Anderson disease · CMRD

Danon disease

GSD due to LAMP-2 deficiency · Glycogenosis due to LAMP-2 deficiency

Familial Mediterranean fever

Benign paroxysmal peritonitis · Benign recurrent polyserositis

Giant cell arteritis

Horton disease · Temporal arteritis

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

Hemoglobin C disease

HbCC disease

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

HbSS disease · HPFH-sickle cell disease syndrome

Human prion disease

TSE · Transmissible spongiform encephalopathy

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

Insulin autoimmune syndrome

Hirata disease

Legg-Calvé-Perthes disease

Aseptic necrosis of the capital femoral epiphysis · Osteochondrosis of the capital femoral epiphysis

Monomelic amyotrophy

Benign focal amyotrophy · Hirayama disease

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

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

Subcorneal pustular dermatosis

Subcorneal pustular dermatitis · Pustulosis subcornealis

Systemic capillary leak syndrome

Capillary hyperpermeability syndrome · Capillary leak syndrome

Wilson disease

Hepatolenticular degeneration