Rare Disease Library

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

HbSS disease · HPFH-sickle cell disease syndrome

HSD10 disease

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

Human prion disease

TSE · Transmissible spongiform encephalopathy

Hyperkeratosis lenticularis perstans

Flegel disease

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

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

Lethal congenital contracture syndrome type 1

Herva disease · LCCS1

Lyme disease

Lyme borreliosis

Meige disease

Hereditary lymphedema type II · Meige lymphedema

Mucolipidosis type II

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

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

Naxos disease

KWWH type I · Keratoderma with woolly hair type I

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

Osteochondritis dissecans

König disease

Osteochondrosis of the metatarsal bone

Freiberg infraction · Avascular necrosis of the metatarsal bone

Parkinson-dementia complex of Guam

Guam parkinsonism-dementia complex · Guam disease

Persistent hyperplastic primary vitreous

Non-syndromic congenital retinal non-attachment · PFVS

Pontocerebellar hypoplasia type 1

Norman disease · PCH1

Primary intestinal lymphangiectasia

Waldmann disease

Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

Severe neurodegenerative syndrome due to BSCL2 deficiency · Celia encephalopathy

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

Rosaï-Dorfman disease

Destombes-Rosaï-Dorfman disease · Rosaï-Dorfman-Destombes disease

Salla 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

Systemic-onset juvenile idiopathic arthritis

Still disease · Systemic-onset JIA

Tropical endomyocardial fibrosis

Davies disease · TEMF

Wolman disease

X-linked lymphoproliferative disease

Duncan disease · Purtilo syndrome