Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

27 matching diseasesClear search ×

Glycogen storage disease due to glycogen debranching enzyme deficiency

GSDIII · Glycogen storage disease type 3

ORPHA:366

Best vitelliform macular dystrophy

BMD · BVMD

ORPHA:1243

Cap myopathy

Cap disease

ORPHA:171881

Central core disease

ORPHA:597

CLN1 disease

Neuronal ceroid lipofuscinosis type 1 · NCL1

ORPHA:228329

CLN10 disease

NCL10 · Neuronal ceroid lipofuscinosis type 10

ORPHA:228337

CLN11 disease

Neuronal ceroid lipofuscinosis type 11 · NCL11

ORPHA:314629

CLN12 disease

NCL12 · Neuronal ceroid lipofuscinosis type 12

ORPHA:314632

CLN13 disease

Kufs disease type B · Neuronal ceroid lipofuscinosis type 13

ORPHA:352709

CLN14 disease

Neuronal ceroid lipofuscinosis type 14 · NCL14

ORPHA:699708

CLN2 disease

Neuronal ceroid lipofuscinosis type 2 · NCL2

ORPHA:228349

CLN3 disease

Neuronal ceroid lipofuscinosis type 3

ORPHA:228346

CLN4 disease

NCL4 · Neuronal ceroid lipofuscinosis type 4

ORPHA:228343

CLN5 disease

Neuronal ceroid lipofuscinosis type 5 · NCL5

ORPHA:228360

CLN6 disease

Neuronal ceroid lipofuscinosis type 6 · NCL6

ORPHA:228363

CLN7 disease

Neuronal ceroid lipofuscinosis type 7 · NCL7

ORPHA:228366

CLN8 disease

Neuronal ceroid lipofuscinosis type 8 · NCL8

ORPHA:228354

Coats disease

Congenital retinal telangiectasia · Leber miliary aneurysm

ORPHA:190

Cowden syndrome

Cowden disease · Multiple hamartoma syndrome

ORPHA:201

Eales disease

Idiopathic retinal perivasculitis · Idiopathic retinal vasculitis

ORPHA:40923

Fabry disease

Alpha-galactosidase A deficiency · Anderson-Fabry disease

ORPHA:324

Farber disease

Acid ceramidase deficiency · Farber lipogranulomatosis

ORPHA:333

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Cole disease · Guttate hypopigmentation and punctate palmoplantar keratoderma

ORPHA:324561

Infantile mercury poisoning

Erythroedema polyneuritis · Feer disease

ORPHA:247165

Neuronal ceroid lipofuscinosis

NCL · NCL disease

ORPHA:216

Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome

Severe neurodegenerative syndrome due to BSCL2 deficiency · Celia encephalopathy

ORPHA:363400

Tropical endomyocardial fibrosis

Davies disease · TEMF

ORPHA:75565