Rare Disease Library

Meige disease

Hereditary lymphedema type II · Meige lymphedema

Mu-heavy chain disease

mu-HCD

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

Parkinson-dementia complex of Guam

Guam parkinsonism-dementia complex · Guam disease

Persistent hyperplastic primary vitreous

Non-syndromic congenital retinal non-attachment · PFVS

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

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

SURF1-related Charcot-Marie-Tooth disease type 4

CMT4K · Charcot-Marie-Tooth disease type 4K

Systemic capillary leak syndrome

Capillary hyperpermeability syndrome · Capillary leak syndrome

Systemic-onset juvenile idiopathic arthritis

Still disease · Systemic-onset JIA

Tropical endomyocardial fibrosis

Davies disease · TEMF

X-linked Charcot-Marie-Tooth disease

CMTX · X-linked hereditary motor and sensory neuropathy

X-linked Charcot-Marie-Tooth disease type 1

CMT1X · CMTX1

X-linked Charcot-Marie-Tooth disease type 2

CMTX2

X-linked Charcot-Marie-Tooth disease type 3

CMT3X · CMTX3

X-linked Charcot-Marie-Tooth disease type 4

CMT4X · CMTX4

X-linked Charcot-Marie-Tooth disease type 5

CMT5X · CMTX5

X-linked Charcot-Marie-Tooth disease type 6

CMT6X · CMTX6

X-linked lymphoproliferative disease

Duncan disease · Purtilo syndrome