Rare Disease Library

IgA Nephropathy

Berger disease · Berger's disease

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

Alpha-N-acetylgalactosaminidase deficiency

NAGA deficiency · Schindler disease

Atrophic papulosis

Degos disease · Köhlmeier-Degos disease

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

CLN1 disease

Neuronal ceroid lipofuscinosis type 1 · NCL1

CLN2 disease

Neuronal ceroid lipofuscinosis type 2 · NCL2

CLN3 disease

Neuronal ceroid lipofuscinosis type 3

CLN4 disease

NCL4 · Neuronal ceroid lipofuscinosis type 4

CLN5 disease

Neuronal ceroid lipofuscinosis type 5 · NCL5

CLN6 disease

Neuronal ceroid lipofuscinosis type 6 · NCL6

CLN7 disease

Neuronal ceroid lipofuscinosis type 7 · NCL7

CLN8 disease

Neuronal ceroid lipofuscinosis type 8 · NCL8

Congenital erythropoietic porphyria

CEP · Günther disease

Danon disease

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

Darier disease

Darier-White disease · Keratosis follicularis

Dent disease

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

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

Erythema palmare hereditarium

Lane disease · Red palms disease

Erythroderma desquamativum

Leiner disease

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase 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

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

Hurler syndrome

Hurler disease · MPS1H

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

Immunoglobulin A nephropathy

Berger disease · IgA nephropathy

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

Infantile neuroaxonal dystrophy

INAD · INAD1

Invasive non-typhoidal salmonellosis

Invasive non-typhoidal salmonella disease · iNTS disease

Leber plus disease

LHON plus disease

Lyme disease

Lyme borreliosis

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Multiple myeloma

Kahler disease · Medullary plasmacytoma

Multiple osteochondromas

Bessel-Hagen disease · Multiple cartilaginous exostoses

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome