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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"
Infantile-onset spinocerebellar ataxia
IOSCA · Ohaha syndrome
Spinal atrophy-ophthalmoplegia-pyramidal syndrome
Hamano-Tsukamoto syndrome
Treft-Sanborn-Carey syndrome
Optic atrophy-ophthalmoplegia-ptosis-hearing loss-myopathy syndrome · Optic atrophy-ophthalmoplegia-ptosis-deafness-myopathy syndrome