Rare Disease Library

Hyperkalemic periodic paralysis

Adynamia episodica hereditaria · Familial hyperPP

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

Atrophic papulosis

Degos disease · Köhlmeier-Degos disease

Best vitelliform macular dystrophy

BMD · BVMD

Cap myopathy

Cap disease

CLN1 disease

Neuronal ceroid lipofuscinosis type 1 · NCL1

CLN2 disease

Neuronal ceroid lipofuscinosis type 2 · NCL2

CLN3 disease

Neuronal ceroid lipofuscinosis type 3

CLN4 disease

NCL4 · Neuronal ceroid lipofuscinosis type 4

CLN5 disease

Neuronal ceroid lipofuscinosis type 5 · NCL5

CLN6 disease

Neuronal ceroid lipofuscinosis type 6 · NCL6

CLN7 disease

Neuronal ceroid lipofuscinosis type 7 · NCL7

CLN8 disease

Neuronal ceroid lipofuscinosis type 8 · NCL8

Congenital erythropoietic porphyria

CEP · Günther disease

Danon disease

GSD due to LAMP-2 deficiency · Glycogenosis due to LAMP-2 deficiency

Dent disease

Dent syndrome · Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis

Erythema palmare hereditarium

Lane disease · Red palms disease

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Cardiovascular Gaucher disease · Gaucher disease type 3C

Glycogen storage disease

GSD · Glycogenosis

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

Gorham-Stout disease

Gorham disease · Gorham syndrome

Hemoglobin C disease

HbCC disease

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

HbSS disease · HPFH-sickle cell disease syndrome

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

Invasive non-typhoidal salmonellosis

Invasive non-typhoidal salmonella disease · iNTS disease

Lyme disease

Lyme borreliosis

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

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

Parkinson-dementia complex of Guam

Guam parkinsonism-dementia complex · Guam disease

Pyle disease

SFRP4-related Pyle disease · Metaphyseal dysplasia, Pyle type

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

Transgrediens et progrediens palmoplantar keratoderma

Greither disease · Keratosis extremitatum hereditaria progrediens