Rare Disease Library

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

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

Gamma-heavy chain disease

Franklin disease · Gamma-HCD

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 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

Gorham-Stout disease

Gorham disease · Gorham syndrome

Hailey-Hailey disease

Benign chronic familial pemphigus

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

HSD10 disease

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

Hurler syndrome

Hurler disease · MPS1H

Hyperkeratosis lenticularis perstans

Flegel disease

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

IgA Nephropathy

Berger disease · Berger's disease

IgG4-related retroperitoneal fibrosis

Ormond disease · Idiopathic retroperitoneal fibrosis

IgG4-related thyroid disease

Riedel disease · Riedel thyroiditis

Immunoglobulin A nephropathy

Berger disease · IgA nephropathy

Infantile CLN1 disease

Infantile neuronal ceroid lipofuscinosis type 1

Infantile CLN2 disease

Infantile neuronal ceroid lipofuscinosis type 2

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

Insulin autoimmune syndrome

Hirata disease

Invasive non-typhoidal salmonellosis

Invasive non-typhoidal salmonella disease · iNTS disease

Juvenile amyotrophic lateral sclerosis

ALS · Charcot disease

Juvenile CLN1 disease

Juvenile neuronal ceroid lipofuscinosis type 1

Juvenile CLN10 disease

Juvenile neuronal ceroid lipofuscinosis type 10

Juvenile CLN2 disease

Juvenile neuronal ceroid lipofuscinosis type 2

Juvenile CLN3 disease

Juvenile neuronal ceroid lipofuscinosis type 3

Juvenile CLN5 disease

Juvenile neuronal ceroid lipofuscinosis type 5

Juvenile CLN6 disease

Juvenile neuronal ceroid lipofuscinosis type 6

Keratoderma hereditarium mutilans with ichthyosis

Camisa disease · Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome