Rare Disease Library

Darier disease

Darier-White disease · Keratosis follicularis

Dent disease

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

Distal spinal muscular atrophy type 3

Autosomal recessive distal spinal muscular atrophy type 3 · dHMN3 and dHMN4

DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy

DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy · Kugelberg-Welander disease

Dysbetalipoproteinemia

Remnant hyperlipoproteinemia · HLP type 3

Dysplasia epiphysealis hemimelica

Trevor disease

Eales disease

Idiopathic retinal perivasculitis · Idiopathic retinal vasculitis

Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome

Kugelberg-Welander disease · SMA

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

Gaucher disease

Acid beta-glucosidase deficiency · Glucocerebrosidase deficiency

Generalized bulbospinal muscular atrophy

Kugelberg-Welander disease · SMA

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 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

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

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

Hyperostosis corticalis generalisata

Van Buchem disease · Hyperphosphatasemia tarda

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

IgG4-related retroperitoneal fibrosis

Ormond disease · Idiopathic retroperitoneal fibrosis

IgG4-related thyroid disease

Riedel disease · Riedel thyroiditis

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

Infantile neuroaxonal dystrophy

INAD · INAD1

Infantile-onset X-linked spinal muscular atrophy

Kugelberg-Welander disease · SMA

Insulin autoimmune syndrome

Hirata disease

Invasive non-typhoidal salmonellosis

Invasive non-typhoidal salmonella disease · iNTS disease

Keratoderma hereditarium mutilans with ichthyosis

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

Kimura disease

Eosinophilic lymphogranuloma

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

Kyasanur forest disease

Kyasanur hemorrhagic fever · Monkey disease

Lafora disease

EPM2 · PME type 2

Leber plus disease

LHON plus disease

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease