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"

110 matching diseasesClear search ×

Rare circulatory system disease

ORPHA:98028

Rare disease with autism

ORPHA:180772

Rare disorder of the lacrimal apparatus

Rare lacrimal system disease

ORPHA:98602

Rare endocrine disease

ORPHA:97978

Rare endocrine growth disease

ORPHA:90692

Rare gastroenterologic disease

ORPHA:97935

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 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 renal disease

ORPHA:98056

Rare genetic respiratory disease

ORPHA:156610

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 hematologic disease

ORPHA:97992

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 inflammatory bowel disease

ORPHA:104012

Rare intestinal disease

ORPHA:117569

Rare lens disease

ORPHA:98639

Rare metabolic liver disease

ORPHA:101940

Rare neoplastic disease

Rare tumoral disease

ORPHA:250908

Rare neurodegenerative disease

ORPHA:182070

Rare neurologic disease

Rare nervous system disease

ORPHA:98006

Rare odontologic disease

ORPHA:98026

Rare pancreatic disease

ORPHA:101937

Rare parasitic disease

ORPHA:163588

Rare parenchymal liver disease

ORPHA:101939

Rare pediatric systemic disease

ORPHA:280373

Rare pulmonary disease

ORPHA:101944

Rare renal disease

ORPHA:93626

Rare renal tubular disease

ORPHA:93603

Rare respiratory disease

ORPHA:97955

Rare rheumatologic disease

ORPHA:182231

Rare skin disease

ORPHA:89826

Rare surgical cardiac disease

ORPHA:97965