Rare Disease Library

Familial LCAT deficiency

Complete LCAT deficiency · FLD

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

Giant cell arteritis

Horton disease · Temporal arteritis

Glycogen storage disease due to acid maltase deficiency

Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Glycogen storage disease due to liver glycogen phosphorylase deficiency

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

Glycogen storage disease due to muscle phosphofructokinase deficiency

GSD due to muscle phosphofructokinase deficiency · GSD type 7

Glycogen storage disease due to phosphoglycerate mutase deficiency

Glycogen storage disease due to phosphoglycerate mutase 2 deficiency · GSD type 10

Gorham-Stout disease

Gorham disease · Gorham syndrome

Hailey-Hailey disease

Benign chronic familial pemphigus

Hemoglobin C disease

HbCC disease

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

HbSS disease · HPFH-sickle cell disease syndrome

Histoplasmosis

Darling disease

HSD10 disease

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

Hurler syndrome

Hurler disease · MPS1H

Hyperkeratosis lenticularis perstans

Flegel disease

Hyperostosis corticalis generalisata

Van Buchem disease · Hyperphosphatasemia tarda

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

IgA Nephropathy

Berger disease · Berger's disease

IgG4-related retroperitoneal fibrosis

Ormond disease · Idiopathic retroperitoneal fibrosis

IgG4-related thyroid disease

Riedel disease · Riedel thyroiditis

Immunoglobulin A nephropathy

Berger disease · IgA nephropathy

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

Insulin autoimmune syndrome

Hirata disease

Invasive non-typhoidal salmonellosis

Invasive non-typhoidal salmonella disease · iNTS disease

Keratoderma hereditarium mutilans with ichthyosis

Camisa disease · Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome

Kimura disease

Eosinophilic lymphogranuloma

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Kyasanur forest disease

Kyasanur hemorrhagic fever · Monkey disease

Lafora disease

EPM2 · PME type 2

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Lethal congenital contracture syndrome type 1

Herva disease · LCCS1

Lyme disease

Lyme borreliosis

Lysosomal disease

Mal de Meleda

Meleda disease

Meige disease

Hereditary lymphedema type II · Meige lymphedema

Menkes disease

Menkes kinky hair disease · MD

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

Milroy disease

Hereditary lymphedema type I · Nonne-Milroy lymphedema

Mitochondrial oxidative phosphorylation disorder

OXPHOS disease

Moyamoya disease

Idiopathic Moyamoya disease

Mucolipidosis type II

I-cell disease · N-acetylglucosamine 1-phosphotransferase deficiency

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Multiple myeloma

Kahler disease · Medullary plasmacytoma

Multiple sulfatase deficiency

MSD · Austin disease