Rare Disease Library

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

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 hepatic disease

Reticular dysgenesis

AK2 deficiency · De Vaal disease

Ringed hair disease

Pili annulati

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-D Punjab disease

HbSD disease · Hemoglobin S-D Punjab disease

Sickle cell S-E disease

HbSE disease · Hemoglobin S-E disease

Sickle cell S-Lepore disease

Hemoglobin S-Lepore disease · HbS-Lepore disease

Sickle cell S-O Arab disease

Hemoglobin S-O Arab disease · HbS-O Arab disease

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

Transgrediens et progrediens palmoplantar keratoderma

Greither disease · Keratosis extremitatum hereditaria progrediens

Tropical endomyocardial fibrosis

Davies disease · TEMF

Upington disease

Hip dysplasia-enchondromata-ecchondroma syndrome

Von Hippel-Lindau disease

Familial cerebelloretinal angiomatosis · Lindau disease

Wagner disease

Dominant hyaloideoretinal dystrophy of Wagner · VCAN-related vitreoretinopathy

Whipple disease

Intestinal lipodystrophy

Wilson disease

Hepatolenticular degeneration

Wolman disease

X-linked lymphoproliferative disease

Duncan disease · Purtilo syndrome