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"

64 matching diseasesClear search ×

Rare inborn errors of metabolism

Rare metabolic disease

ORPHA:68367

Mal de Meleda

Meleda disease

ORPHA:87503

Meige disease

Hereditary lymphedema type II · Meige lymphedema

ORPHA:90186

Menkes disease

Menkes kinky hair disease · MD

ORPHA:565

Metabolic disease with cataract

ORPHA:98644

Metabolic disease with intestinal involvement

ORPHA:104013

Metabolic disease with skin involvement

ORPHA:79387

Metabolic diseases with epilepsy

ORPHA:166481

Neurometabolic disease

ORPHA:68385

OBSOLETE: Metabolic disease with cataract

ORPHA:98712

Other metabolic disease

ORPHA:91088

Other metabolic disease with epilepsy

ORPHA:225713

Other metabolic disease with skin involvement

ORPHA:79217

Rare adrenal disease

ORPHA:101954

Rare allergic disease

Rare allergy

ORPHA:98050

Rare biliary tract disease

ORPHA:101941

Rare bone disease

ORPHA:93419

Rare cardiac disease

ORPHA:97929

Rare cardiac rhythm disease

ORPHA:218436

Rare disease with autism

ORPHA:180772

Rare endocrine disease

ORPHA:97978

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 eye disease

Rare genetic ophthalmologic disease

ORPHA:101435

Rare genetic hepatic disease

ORPHA:156601

Rare genetic immune disease

ORPHA:183770

Rare genetic medullar disease

ORPHA:183515

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 genetic vascular disease

ORPHA:233655

Rare hematologic disease

ORPHA:97992

Rare hepatic disease

ORPHA:57146

Rare hereditary metabolic disease with peripheral neuropathy

ORPHA:207018

Rare immune disease

ORPHA:98004

Rare infectious disease

ORPHA:68416

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 neurologic disease

Rare nervous system disease

ORPHA:98006

Rare odontologic disease

ORPHA:98026

Rare pancreatic disease

ORPHA:101937