Rare Disease Library

Narcolepsy type 1

Gélineau disease · Narcolepsy-cataplexy

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

Ollier disease

Multiple Enchondromatosis type I · Enchondromatosis Spranger type I

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

Other metabolic 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

Progressive familial intrahepatic cholestasis type 1

Byler disease · FIC1 deficiency

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

Schilder disease

Myelinoclastic diffuse sclerosis

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

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy