Rare Disease Library

Non-amyloid monoclonal immunoglobulin deposition disease

Non-amyloid MIDD · Randall disease

Adiposis dolorosa

Adiposalgia · Adipose tissue rheumatism

Adult hypophosphatasia

Adult Rathbun disease · Adult phosphoethanolaminuria

Adult-onset foveomacular vitelliform dystrophy

AOFMD · AVMD

Alexander disease

AxD

Atrophic papulosis

Degos disease · Köhlmeier-Degos disease

Autosomal dominant spastic paraplegia type 3

Strümpell disease · Autosomal dominant spastic paraplegia type 3A

BENTA disease

B-cell expansion with NF-kB and T-cell anergy disease

Best vitelliform macular dystrophy

BMD · BVMD

Brill-Zinsser disease

Brill disease · Recrudescent typhus

Cap myopathy

Cap disease

Chylomicron retention disease

Anderson disease · CMRD

Classic eosinophilic pustular folliculitis

Ofuji disease · Classic EPF

CLN1 disease

Neuronal ceroid lipofuscinosis type 1 · NCL1

CLN10 disease

NCL10 · Neuronal ceroid lipofuscinosis type 10

CLN11 disease

Neuronal ceroid lipofuscinosis type 11 · NCL11

CLN12 disease

NCL12 · Neuronal ceroid lipofuscinosis type 12

CLN13 disease

Kufs disease type B · Neuronal ceroid lipofuscinosis type 13

CLN14 disease

Neuronal ceroid lipofuscinosis type 14 · NCL14

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

Coats disease

Congenital retinal telangiectasia · Leber miliary aneurysm

Congenital factor V deficiency

Owren disease · Parahemophilia

Danon disease

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

Darier disease

Darier-White disease · Keratosis follicularis

Dent disease

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

Eales disease

Idiopathic retinal perivasculitis · Idiopathic retinal vasculitis

Erythema palmare hereditarium

Lane disease · Red palms disease

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Familial LCAT deficiency

Complete LCAT deficiency · FLD

Gamma-heavy chain disease

Franklin disease · Gamma-HCD

Glycogen storage disease due to acid maltase deficiency

Alpha-1,4-glucosidase acid deficiency · GSD due to acid maltase deficiency

Glycogen storage disease due to glycogen branching enzyme deficiency

GSD due to glycogen branching enzyme deficiency · GSD type 4

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

Glycogen storage disease due to muscle phosphofructokinase deficiency

GSD due to muscle phosphofructokinase deficiency · GSD type 7

Glycogen storage disease due to phosphoglycerate mutase deficiency

Glycogen storage disease due to phosphoglycerate mutase 2 deficiency · GSD type 10

GM1 gangliosidosis

Beta-galactosidase-1 deficiency · GLB1 deficiency

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

HSD10 disease

2-methyl-3-hydroxybutyric aciduria · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency