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"

4 matching diseasesClear search ×

Multiple pterygium-malignant hyperthermia syndrome

Froster-Iskenius-Waterson-Hall syndrome · Malignant hyperthermia-arthrogryposis-torticollis syndrome

ORPHA:2215

Diaphragmatic defect-limb deficiency-skull defect syndrome

Froster-Huch syndrome

ORPHA:2141

Pallister-Hall syndrome

Hypothalamic hamartoblastoma syndrome

ORPHA:672

Ptosis-strabismus-ectopic pupils syndrome

McPherson-Hall syndrome

ORPHA:2999