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"

31 matching diseasesClear search ×

Genetic neuro-ophthalmological disease

ORPHA:183616

Neuro-ophthalmological disease

ORPHA:140653

Rare abdominal surgical disease

ORPHA:165711

Rare adrenal disease

ORPHA:101954

Rare allergic disease

Rare allergy

ORPHA:98050

Rare bone disease

ORPHA:93419

Rare disease with odontological manifestation

ORPHA:98027

Rare gastroenterologic disease

ORPHA:97935

Rare genetic gastroenterological disease

ORPHA:165652

Rare genetic gynecological and obstetrical diseases

ORPHA:183731

Rare genetic hematologic disease

ORPHA:158300

Rare genetic neurological disorder

ORPHA:71859

Rare genetic odontologic disease

ORPHA:77830

Rare hematologic disease

ORPHA:97992

Rare hereditary neurologic disease with peripheral neuropathy

ORPHA:207025

Rare lens disease

ORPHA:98639

Rare neoplastic disease

Rare tumoral disease

ORPHA:250908

Rare neurodegenerative disease

ORPHA:182070

Rare neuroinflammatory or neuroimmunological disease

ORPHA:182064

Rare neurologic disease

Rare nervous system disease

ORPHA:98006

Rare neurologic disease with psychiatric involvement

ORPHA:98033

Rare odontologic disease

ORPHA:98026

Rare otorhinolaryngologic disease

ORPHA:98036

Rare renal disease

ORPHA:93626

Rare rheumatologic disease

ORPHA:182231

Rare skin disease

ORPHA:89826

Rare surgical cardiac disease

ORPHA:97965

Rare surgical thoracic disease

ORPHA:97962

Rare teratologic disease

Acquired embryofetopathy

ORPHA:52662

Rare urogenital disease

ORPHA:101433

Rare viral disease

ORPHA:163585