Rare Disease Library

Multiple myeloma

Kahler disease · Medullary plasmacytoma

Multiple sulfatase deficiency

MSD · Austin disease

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

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 tarsal bone

Avascular necrosis of the tarsal bone · Kohler 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

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

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

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 viral disease

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Rickettsial disease

Rickettsiae disease

Ringed hair disease

Pili annulati

Salla disease

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

Spotted fever rickettsiosis

Spotted fever rickettsiae disease

Systemic-onset juvenile idiopathic arthritis

Still disease · Systemic-onset JIA

Tangier disease

ATP-binding cassette transporter A1 deficiency · Analphalipoproteinemia

Thomsen and Becker disease

Myotonia congenita

Transgrediens et progrediens palmoplantar keratoderma

Greither disease · Keratosis extremitatum hereditaria progrediens

Tropical endomyocardial fibrosis

Davies disease · TEMF

Typhus-group rickettsiosis

Typhus-group rickettsiae disease

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease