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"

2 matching diseasesClear search ×

Hutchinson-Gilford progeria syndrome

HGPS · Progeria

ORPHA:740

Horizontal gaze palsy with progressive scoliosis

HGPPS · Progressive external ophthalmoplegia and scoliosis

ORPHA:2744