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"

13 matching diseasesClear search ×

Inherited Creutzfeldt-Jakob disease

Inherited CJD

ORPHA:282166

Inherited human prion disease

Familial prion disease · Genetic human prion disease

ORPHA:280400

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

Mitochondrial DNA-associated Leigh syndrome

mtDNA-associated Leigh syndrome · MILS

ORPHA:255210

Neurometabolic disease

ORPHA:68385

Other metabolic disease

ORPHA:91088

Other metabolic disease with epilepsy

ORPHA:225713

Other metabolic disease with skin involvement

ORPHA:79217

Rare inborn errors of metabolism

Rare metabolic disease

ORPHA:68367

Rare metabolic liver disease

ORPHA:101940