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"

30 matching diseasesClear search ×

Rare neurologic disease

Rare nervous system disease

ORPHA:98006

Genetic central nervous system and retinal vascular disease

ORPHA:183503

Infectious disease of the nervous system

ORPHA:98010

Rare adrenal disease

ORPHA:101954

Rare allergic disease

Rare allergy

ORPHA:98050

Rare autonomic nervous system disorder

ORPHA:423662

Rare bone disease

ORPHA:93419

Rare cardiac disease

ORPHA:97929

Rare central nervous system and retinal vascular disease

ORPHA:71281

Rare circulatory system disease

ORPHA:98028

Rare disorder of the lacrimal apparatus

Rare lacrimal system disease

ORPHA:98602

Rare genetic autonomic nervous system disorder

ORPHA:434786

Rare genetic disease

ORPHA:98053

Rare genetic skin disease

Rare genodermatosis

ORPHA:68346

Rare genetic systemic or rheumatologic disease

ORPHA:271870

Rare hepatic disease

ORPHA:57146

Rare immune disease

ORPHA:98004

Rare infectious disease

ORPHA:68416

Rare lens disease

ORPHA:98639

Rare neoplastic disease

Rare tumoral disease

ORPHA:250908

Rare nervous system tumor

Rare nervous system neoplasm

ORPHA:98062

Rare neurodegenerative disease

ORPHA:182070

Rare pediatric systemic disease

ORPHA:280373

Rare renal disease

ORPHA:93626

Rare skin disease

ORPHA:89826

Rare systemic disease

ORPHA:182222

Rare systemic or rheumatologic disease

ORPHA:98023

Rare thyroid disease

ORPHA:101955

Rare vascular disease

ORPHA:68362

Rare viral disease

ORPHA:163585