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"

5 matching diseasesClear search ×

Primary hemophagocytic lymphohistiocytosis with hypopigmentation

Genetic hemophagocytic lymphohistiocytosis with hypopigmentation · Genetic HLH with hypopigmentation

ORPHA:331249

Epidermolysis bullosa simplex with mottled pigmentation

EBS-MP · EBS with mottled pigmentation

ORPHA:79397

Hypopigmentation of the skin

ORPHA:79376

Primary hemophagocytic lymphohistiocytosis

Genetic hemophagocytic lymphohistiocytosis · Genetic HLH

ORPHA:158038

Primary hemophagocytic lymphohistiocytosis without hypopigmentation

Genetic hemophagocytic lymphohistiocytosis without hypopigmentation · Genetic HLH without hypopigmentation

ORPHA:664482