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"

51 matching diseasesClear search ×

Genetic cystic renal disease

Hereditary cystic renal disease

ORPHA:93587

Rare adrenal disease

ORPHA:101954

Rare allergic disease

Rare allergy

ORPHA:98050

Rare bone disease

ORPHA:93419

Rare cardiac disease

ORPHA:97929

Rare endocrine disease

ORPHA:97978

Rare gastroesophageal disease

ORPHA:101936

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 eye disease

Rare genetic ophthalmologic disease

ORPHA:101435

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 immune disease

ORPHA:183770

Rare genetic medullar disease

ORPHA:183515

Rare genetic odontologic disease

ORPHA:77830

Rare genetic palpebral disorder

ORPHA:522526

Rare genetic renal disease

ORPHA:98056

Rare genetic respiratory disease

ORPHA:156610

Rare genetic retinal disorder

ORPHA:522572

Rare genetic skin disease

Rare genodermatosis

ORPHA:68346

Rare genetic thyroid disease

ORPHA:183631

Rare genetic urogenital disease

ORPHA:156619

Rare genetic vascular disease

ORPHA:233655

Rare hepatic disease

ORPHA:57146

Rare immune disease

ORPHA:98004

Rare inborn errors of metabolism

Rare metabolic disease

ORPHA:68367

Rare infectious disease

ORPHA:68416

Rare intestinal disease

ORPHA:117569

Rare lens disease

ORPHA:98639

Rare neoplastic disease

Rare tumoral disease

ORPHA:250908

Rare neurodegenerative disease

ORPHA:182070

Rare neurologic disease

Rare nervous system disease

ORPHA:98006

Rare pancreatic disease

ORPHA:101937

Rare parasitic disease

ORPHA:163588

Rare pulmonary disease

ORPHA:101944

Rare renal disease

ORPHA:93626

Rare renal tubular disease

ORPHA:93603

Rare respiratory disease

ORPHA:97955

Rare skin disease

ORPHA:89826

Rare systemic disease

ORPHA:182222

Rare teratologic disease

Acquired embryofetopathy

ORPHA:52662

Rare thyroid disease

ORPHA:101955

Rare urogenital disease

ORPHA:101433