Rare Disease Library

Osteogenesis imperfecta

Brittle bone disease · Glass bone disease

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

Amyotrophic lateral sclerosis

ALS · Charcot disease

Amyotrophic lateral sclerosis type 4

ALS · ALS4

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

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

Erythroderma desquamativum

Leiner disease

Gamma-heavy chain disease

Franklin disease · Gamma-HCD

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

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

Hemoglobin C disease

HbCC disease

Hemoglobin D disease

Hemoglobin E disease

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

Hemoglobin M disease

M hemoglobinopathy · Autosomal dominant methemoglobinemia

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

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

Invasive non-typhoidal salmonellosis

Invasive non-typhoidal salmonella disease · iNTS disease

Juvenile amyotrophic lateral sclerosis

ALS · Charcot disease

Lafora disease

EPM2 · PME type 2

Late-onset Steinert myotonic dystrophy

Late-onset Steinert disease · Late-onset myotonic dystrophy type 1

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Lyme disease

Lyme borreliosis

Monostotic fibrous dysplasia

Jaffe-Lichtenstein disease

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Multiple sulfatase deficiency

MSD · Austin disease

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