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"

9 matching diseasesClear search ×

Acquired hemophagocytic lymphohistiocytosis associated with malignant disease

Hemophagocytic lymphohistiocytosis · HLH

ORPHA:158057

EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature

Epstein-Barr virus susceptibility with hemophagocytic lymphohistiocytosis as a major feature · Hemophagocytic lymphohistiocytosis

ORPHA:664734

Familial hemophagocytic lymphohistiocytosis

Familial HLH · Hemophagocytic lymphohistiocytosis

ORPHA:540

Primary hemophagocytic lymphohistiocytosis

Genetic hemophagocytic lymphohistiocytosis · Genetic HLH

ORPHA:158038

Primary hemophagocytic lymphohistiocytosis with hypopigmentation

Genetic hemophagocytic lymphohistiocytosis with hypopigmentation · Genetic HLH with hypopigmentation

ORPHA:331249

Primary hemophagocytic lymphohistiocytosis without hypopigmentation

Genetic hemophagocytic lymphohistiocytosis without hypopigmentation · Genetic HLH without hypopigmentation

ORPHA:664482

Secondary hemophagocytic lymphohistiocytosis

Acquired hemophagocytic lymphohistiocytosis · Hemophagocytic lymphohistiocytosis

ORPHA:158041

Hemophagocytic syndrome

HLH · Hemophagocytic lymphohistiocytosis

ORPHA:158032

Hypoplastic left heart syndrome

HLHS

ORPHA:2248