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"

62 matching diseasesClear search ×

Rare neoplastic disease

Rare tumoral disease

ORPHA:250908

Central core disease

ORPHA:597

Hypophosphatasia

HPP · Phosphoethanolaminuria

ORPHA:436

Non-amyloid monoclonal immunoglobulin deposition disease

Non-amyloid MIDD · Randall disease

ORPHA:86861

Rare abdominal surgical disease

ORPHA:165711

Rare adrenal disease

ORPHA:101954

Rare allergic disease

Rare allergy

ORPHA:98050

Rare biliary tract disease

ORPHA:101941

Rare bone disease

ORPHA:93419

Rare bone tumor

ORPHA:68411

Rare breast tumor

ORPHA:180250

Rare cardiac disease

ORPHA:97929

Rare cardiac rhythm disease

ORPHA:218436

Rare digestive tumor

Rare digestive cancer · Rare digestive neoplasm

ORPHA:98059

Rare disease with autism

ORPHA:180772

Rare disorder of the lacrimal apparatus

Rare lacrimal system disease

ORPHA:98602

Rare endocrine disease

ORPHA:97978

Rare eye tumor

ORPHA:101950

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 eye disease

Rare genetic ophthalmologic disease

ORPHA:101435

Rare genetic hepatic disease

ORPHA:156601

Rare genetic immune disease

ORPHA:183770

Rare genetic renal disease

ORPHA:98056

Rare genetic skin disease

Rare genodermatosis

ORPHA:68346

Rare genetic thyroid disease

ORPHA:183631

Rare genetic urogenital disease

ORPHA:156619

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 intestinal disease

ORPHA:117569

Rare lens disease

ORPHA:98639

Rare metabolic liver disease

ORPHA:101940

Rare nail tumor

ORPHA:300515

Rare neurologic disease

Rare nervous system disease

ORPHA:98006

Rare odontologic disease

ORPHA:98026

Rare otorhinolaryngologic tumor

Rare ORL cancer · Rare ORL neoplasm

ORPHA:98061

Rare pancreatic disease

ORPHA:101937

Rare parasitic disease

ORPHA:163588

Rare parenchymal liver disease

ORPHA:101939

Rare pulmonary disease

ORPHA:101944

Rare renal disease

ORPHA:93626

Rare renal tubular disease

ORPHA:93603