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"

8 matching diseasesClear search ×

Diffuse lymphatic malformation

Diffuse lymphangioma · Diffuse lymphangiomatosis

ORPHA:141209

Generalized peeling skin syndrome

Generalized PSS · Generalized deciduous skin

ORPHA:263543

Generalized pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 · Autosomal recessive PHA1

ORPHA:171876

Genetic cardiac anomaly

ORPHA:271853

Genetic hair anomaly

ORPHA:183450

Genetic larynx anomaly

ORPHA:435609

Genetic nail anomaly

ORPHA:183454

PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis

PIEZO1-related LRHF/GLD · PIEZO1-related generalized lymphatic dysplasia with systemic involvement

ORPHA:568062