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"

7 matching diseasesClear search ×

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

ORPHA:369

Inherited acute myeloid leukemia

Acute myeloid leukemia · AML

ORPHA:319465

Inherited Creutzfeldt-Jakob disease

Inherited CJD

ORPHA:282166

Inherited human prion disease

Familial prion disease · Genetic human prion disease

ORPHA:280400

Invasive non-typhoidal salmonellosis

Invasive non-typhoidal salmonella disease · iNTS disease

ORPHA:324648

Lethal congenital contracture syndrome type 1

Herva disease · LCCS1

ORPHA:1486

Mitochondrial DNA-associated Leigh syndrome

mtDNA-associated Leigh syndrome · MILS

ORPHA:255210