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 ×

Addison disease

Primary Addison disease · Autoimmune adrenalitis

ORPHA:85138

Adult CLN1 disease

Adult neuronal ceroid lipofuscinosis type 1 · Céroïde lipofuscinose neuronale adulte type 1

ORPHA:699745

Adult CLN5 disease

Adult neuronal ceroid lipofuscinosis type 5

ORPHA:699812

Adult CLN6 disease

Adult neuronal ceroid lipofuscinosis type 6

ORPHA:700477

Adult Refsum disease

Classic Refsum disease · HMSN 4

ORPHA:773

Chylomicron retention disease

Anderson disease · CMRD

ORPHA:71

Classic Hodgkin lymphoma

Classic Hodgkin disease

ORPHA:391

Classic maple syrup urine disease

Classic BCKD deficiency · Classic MSUD

ORPHA:268145

Classic multiminicore myopathy

Classic MmD · Classic multiminicore disease

ORPHA:324604

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

HSD10 disease, infantile type

2-methyl-3-hydroxybutyric aciduria, classic type · 2-methyl-3-hydroxybutyric aciduria, infantile type

ORPHA:391428

Infantile Krabbe disease

Krabbe disease, classic form · Krabbe disease, early-onset

ORPHA:206436

Neuronal ceroid lipofuscinosis

NCL · NCL disease

ORPHA:216

Systemic capillary leak syndrome

Capillary hyperpermeability syndrome · Capillary leak syndrome

ORPHA:188

Wilson disease

Hepatolenticular degeneration

ORPHA:905