Rare Disease Library

Coccidioidomycosis

California disease · Coccidioides infection

Cold agglutinin disease

CAD · CAS

Color-vision disease

Colorado tick fever

American mountain fever · Colorado tick encephalitis

Congenital CLN10 disease

CNCL · Congenital neuronal ceroid lipofuscinosis type 10

Congenital erythropoietic porphyria

CEP · Günther disease

Congenital factor V deficiency

Owren disease · Parahemophilia

Corpus callosum agenesis-neuronopathy syndrome

Andermann syndrome · Charlevoix disease

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

Cranio-osteoarthropathy

Currarino disease · Currarino idiopathic osteoarthropathy

Cushing disease

Corticotroph pituitary adenoma · Pituitary corticotroph micro-adenoma

Cystic echinococcosis

Hydatid disease · Hydatidosis

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

Dysplasia epiphysealis hemimelica

Trevor disease

Eales disease

Idiopathic retinal perivasculitis · Idiopathic retinal vasculitis

Erythema palmare hereditarium

Lane disease · Red palms disease

Erythroderma desquamativum

Leiner disease

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

Familial expansile osteolysis

Hereditary expansile polyostotic osteolytic dysplasia · McCabe disease

Familial LCAT deficiency

Complete LCAT deficiency · FLD

Familial Mediterranean fever

Benign paroxysmal peritonitis · Benign recurrent polyserositis

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

Fish-eye disease

FED · Partial LCAT deficiency

Gamma-heavy chain disease

Franklin disease · Gamma-HCD

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

GCGR-related hyperglucagonemia

Mahvash disease

Giant cell arteritis

Horton disease · Temporal arteritis

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 glycogen phosphorylase deficiency

GSD due to muscle glycogen phosphorylase deficiency · GSD type 5

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

Gorham-Stout disease

Gorham disease · Gorham syndrome

GRACILE syndrome

Fellman disease · Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome

Hailey-Hailey disease

Benign chronic familial pemphigus

Hartnup disease

Aminoaciduria, Hartnup type · Hartnup disorder

Heavy chain disease

HCD

Hemoglobin C disease

HbCC disease

Hemoglobin H disease

Alpha-thalassemia intermedia · HbH disease

Hemophilia B

Congenital F9 deficiency · Christmas 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

Histoplasmosis

Darling disease