Rare Disease Library

Monomelic amyotrophy

Benign focal amyotrophy · Hirayama disease

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

Allergic bronchopulmonary aspergillosis

ABPA · Allergic aspergillosis

Atrophic papulosis

Degos disease · Köhlmeier-Degos disease

Best vitelliform macular dystrophy

BMD · BVMD

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

Cystic echinococcosis

Hydatid disease · Hydatidosis

Danon disease

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

Dent disease

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

Erythema palmare hereditarium

Lane disease · Red palms disease

Giant cell arteritis

Horton disease · Temporal arteritis

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

Hailey-Hailey disease

Benign chronic familial pemphigus

Hartnup disease

Aminoaciduria, Hartnup type · Hartnup disorder

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

Hirschsprung disease

Aganglionic megacolon · Congenital intestinal aganglionosis

HSD10 disease

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

Hurler syndrome

Hurler disease · MPS1H

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

Insulin autoimmune syndrome

Hirata disease

Invasive non-typhoidal salmonellosis

Invasive non-typhoidal salmonella disease · iNTS disease

Lethal congenital contracture syndrome type 1

Herva disease · LCCS1

Lyme disease

Lyme borreliosis

Moyamoya disease

Idiopathic Moyamoya disease

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuronal ceroid lipofuscinosis

NCL · NCL disease

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Parkinson-dementia complex of Guam

Guam parkinsonism-dementia complex · Guam 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