Rare Disease Library

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

Non-amyloid monoclonal immunoglobulin deposition disease

Non-amyloid MIDD · Randall disease

Norrie disease

Atrophia bulborum hereditaria · Episkopi blindness

Occult macular dystrophy

OCMD · OMD

Oculocerebrorenal syndrome of Lowe

Lowe disease · Lowe oculo-cerebro-renal syndrome

Oguchi disease

Congenital stationary night blindness, Oguchi type · Oguchi syndrome

Ollier disease

Multiple Enchondromatosis type I · Enchondromatosis Spranger type I

Osteochondritis dissecans

König disease

Osteochondrosis of the metatarsal bone

Freiberg infraction · Avascular necrosis of the metatarsal bone

Osteochondrosis of the tarsal bone

Avascular necrosis of the tarsal bone · Kohler disease

Osteogenesis imperfecta

Brittle bone disease · Glass bone disease

Panner disease

Aseptic necrosis of the capital humerus · Osteochondrosis of the capital humerus

Parkinson-dementia complex of Guam

Guam parkinsonism-dementia complex · Guam disease

Peeling skin syndrome

Deciduous skin · Familial continuous skin peeling syndrome

Persistent hyperplastic primary vitreous

Non-syndromic congenital retinal non-attachment · PFVS

Polycythemia vera

Acquired primary erythrocytosis · Osler-Vaquez disease

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

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Psittacosis

Ornithosis · Parrot fever

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

Rare bone disease

Rare lens disease

Rare renal disease

Rare skin disease

Rare systemic disease

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Salla disease

Sandhoff disease

Schilder disease

Myelinoclastic diffuse sclerosis

Senior-Boichis syndrome

Boichis disease · Nephronophthisis-hepatic fibrosis syndrome

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

Stargardt disease

Fundus flavimaculatus · Stargardt 1

Steinert myotonic dystrophy

Myotonic dystrophy type 1 · Steinert disease

Systemic capillary leak syndrome

Capillary hyperpermeability syndrome · Capillary leak syndrome

Systemic-onset juvenile idiopathic arthritis

Still disease · Systemic-onset JIA

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

Tay-Sachs disease

Beta-hexosaminidase subunit alpha deficiency · GM2 gangliosidosis, Tay-Sachs variant