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"

17 matching diseasesClear search ×

Bartonella bacilliformis infection

Bartonellosis due to infection with Bartonella bacilliformis · Carrion disease

ORPHA:64692

CADINS disease

CARD11-associated atopy with dominant interference of NF-kB signaling syndrome

ORPHA:619972

Caffey disease

Infantile cortical hyperostosis

ORPHA:1310

Cap myopathy

Cap disease

ORPHA:171881

Caroli disease

ORPHA:53035

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Cardiovascular Gaucher disease · Gaucher disease type 3C

ORPHA:2072

Glomerular disease

ORPHA:93548

Keratoderma hereditarium mutilans with ichthyosis

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

ORPHA:79395

Neuromuscular disease

ORPHA:68381

Neuromuscular disease with dilated cardiomyopathy

ORPHA:217610

Portosinusoidal vascular disease

PSVD

ORPHA:596937

Rare cardiac disease

ORPHA:97929

Rare cardiac rhythm disease

ORPHA:218436

Rare genetic vascular disease

ORPHA:233655

Rare vascular disease

ORPHA:68362

Rare vascular liver disease

ORPHA:101938

Skin vascular disease

ORPHA:79379