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"

44 matching diseasesClear search ×

Rare genetic eye disease

Rare genetic ophthalmologic disease

ORPHA:101435

Genetic cystic renal disease

Hereditary cystic renal disease

ORPHA:93587

Genetic glomerular disease

ORPHA:183586

Genetic neuro-ophthalmological disease

ORPHA:183616

Genetic otorhinolaryngologic disease

ORPHA:466084

Genetic pancreatic disease

ORPHA:165661

Genetic renal tubular disease

ORPHA:183592

IgG4-related ophthalmic disease

ORPHA:449563

Neuro-ophthalmological disease

ORPHA:140653

Rare allergic disease

Rare allergy

ORPHA:98050

Rare gastroenterologic disease

ORPHA:97935

Rare genetic adrenal disease

ORPHA:183637

Rare genetic bone disease

ORPHA:183524

Rare genetic cardiac disease

ORPHA:98054

Rare genetic disease

ORPHA:98053

Rare genetic endocrine disease

ORPHA:156638

Rare genetic gastroenterological disease

ORPHA:165652

Rare genetic gynecological and obstetrical diseases

ORPHA:183731

Rare genetic hematologic disease

ORPHA:158300

Rare genetic hepatic disease

ORPHA:156601

Rare genetic hypothalamic or pituitary disease

ORPHA:183628

Rare genetic immune disease

ORPHA:183770

Rare genetic medullar disease

ORPHA:183515

Rare genetic neurological disorder

ORPHA:71859

Rare genetic odontologic disease

ORPHA:77830

Rare genetic ophthalmic disorder with cortical involvement

ORPHA:522508

Rare genetic optic nerve disorder

ORPHA:522512

Rare genetic renal disease

ORPHA:98056

Rare genetic respiratory disease

ORPHA:156610

Rare genetic skin disease

Rare genodermatosis

ORPHA:68346

Rare genetic systemic or rheumatologic disease

ORPHA:271870

Rare genetic thyroid disease

ORPHA:183631

Rare genetic urogenital disease

ORPHA:156619

Rare genetic vascular disease

ORPHA:233655

Rare gynecologic or obstetric disease

ORPHA:96344

Rare hematologic disease

ORPHA:97992

Rare hepatic disease

ORPHA:57146

Rare neurologic disease

Rare nervous system disease

ORPHA:98006

Rare odontologic disease

ORPHA:98026

Rare ophthalmic disorder

ORPHA:97966

Rare otorhinolaryngologic disease

ORPHA:98036

Rare rheumatologic disease

ORPHA:182231

Rare systemic or rheumatologic disease

ORPHA:98023

Rare teratologic disease

Acquired embryofetopathy

ORPHA:52662