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 ×

Hemophagocytic syndrome associated with an infection

IAHS · VAHS

ORPHA:158048

Hemophagocytic syndrome

HLH · Hemophagocytic lymphohistiocytosis

ORPHA:158032

Mitochondrial DNA-associated Leigh syndrome

mtDNA-associated Leigh syndrome · MILS

ORPHA:255210

NLRP3-associated autoinflammatory disease

CAPS · Cryopyrinopathy

ORPHA:208650

Secondary hemophagocytic lymphohistiocytosis

Acquired hemophagocytic lymphohistiocytosis · Hemophagocytic lymphohistiocytosis

ORPHA:158041

Shiga toxin-associated hemolytic uremic syndrome

Typical HUS · Typical hemolytic uremic syndrome

ORPHA:90038

Streptococcus pneumoniae-associated hemolytic uremic syndrome

S. pneumoniae-associated HUS · SP-HUS

ORPHA:544493