Rare Disease Library

Sickle cell S-Lepore disease

Hemoglobin S-Lepore disease · HbS-Lepore disease

Erythema palmare hereditarium

Lane disease · Red palms disease

Erythroderma desquamativum

Leiner disease

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

Hereditary progressive cardiac conduction defect

Hereditary Lenègre disease · Hereditary Lev disease

HSD10 disease

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

Hurler syndrome

Hurler disease · MPS1H

Insulin autoimmune syndrome

Hirata disease

Lafora disease

EPM2 · PME type 2

Leber plus disease

LHON plus disease

Ledderhose disease

Plantar fibromatosis

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Lethal congenital contracture syndrome type 1

Herva disease · LCCS1

Lyme disease

Lyme borreliosis

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Rare lens disease

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-O Arab disease

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

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease