Rare Disease Library

Sickle cell S-O Arab disease

Hemoglobin S-O Arab disease · HbS-O Arab disease

Addison disease

Primary Addison disease · Autoimmune adrenalitis

Alpha-thalassemia-myelodysplastic syndrome

Acquired HbH disease · Acquired hemoglobin H disease

Classic eosinophilic pustular folliculitis

Ofuji disease · Classic EPF

Congenital factor V deficiency

Owren disease · Parahemophilia

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

Hailey-Hailey disease

Benign chronic familial pemphigus

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

Homozygous hemoglobin O Arab disease

Homozygous O Arab hemoglobinopathy

HSD10 disease

2-methyl-3-hydroxybutyric aciduria · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency

Hurler syndrome

Hurler disease · MPS1H

IgG4-related retroperitoneal fibrosis

Ormond disease · Idiopathic retroperitoneal fibrosis

Insulin autoimmune syndrome

Hirata disease

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Lethal congenital contracture syndrome type 1

Herva disease · LCCS1

Mitochondrial oxidative phosphorylation disorder

OXPHOS disease

Multiple sulfatase deficiency

MSD · Austin disease

Oguchi disease

Congenital stationary night blindness, Oguchi type · Oguchi syndrome

Ollier disease

Multiple Enchondromatosis type I · Enchondromatosis Spranger type I

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

Sickle cell S-Lepore disease

Hemoglobin S-Lepore disease · HbS-Lepore disease