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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"
Native American myopathy
Congenital myopathy-cleft palate-malignant hyperthermia syndrome · Bailey-Bloch congenital myopathy
Bamforth-Lazarus syndrome
Athyroidal hypothyroidism-spiky hair-cleft palate syndrome · Bamforth syndrome
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Sengers syndrome
Multiple pterygium-malignant hyperthermia syndrome
Froster-Iskenius-Waterson-Hall syndrome · Malignant hyperthermia-arthrogryposis-torticollis syndrome
Syngnathia-cleft palate syndrome