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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"
Pure hereditary spastic paraplegia
Pure HSP · Pure SPG
Adrenocortical carcinoma with pure aldosterone hypersecretion
Pure APAC · Pure aldosterone-producing adrenocortical carcinoma
Hereditary spastic paraplegia
Familial spastic paraplegia · HSP
Isolated childhood apraxia of speech
Isolated developmental verbal dyspraxia · Pure childhood apraxia of speech