Rare Disease Library

Multiple symmetric lipomatosis

Cephalothoracic lipodystrophy · Familial benign cervical lipomatosis

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

Cushing disease

Corticotroph pituitary adenoma · Pituitary corticotroph micro-adenoma

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

Familial expansile osteolysis

Hereditary expansile polyostotic osteolytic dysplasia · McCabe disease

GCGR-related hyperglucagonemia

Mahvash disease

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

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

Hirschsprung disease

Aganglionic megacolon · Congenital intestinal aganglionosis

Histoplasmosis

Darling disease

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

IgG4-related dacryoadenitis and sialadenitis

Chronic dacryoadenitis and sialadenitis · Mikulicz disease

IgG4-related thyroid disease

Riedel disease · Riedel thyroiditis

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

Invasive non-typhoidal salmonellosis

Invasive non-typhoidal salmonella disease · iNTS disease

Kyasanur forest disease

Kyasanur hemorrhagic fever · Monkey disease

Lyme disease

Lyme borreliosis

Mal de Meleda

Meleda disease

Medullar disease

Meige disease

Hereditary lymphedema type II · Meige lymphedema

Menkes disease

Menkes kinky hair disease · MD

Methionine adenosyltransferase I/III deficiency

MAT I/III deficiency · Mudd's disease

Milroy disease

Hereditary lymphedema type I · Nonne-Milroy lymphedema

Moyamoya disease

Idiopathic Moyamoya disease

Mucopolysaccharidosis type 4

MPS4 · MPSIV

Mucopolysaccharidosis type 7

Beta-glucuronidase deficiency · MPS7

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