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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"
Palmoplantar keratoderma-spastic paralysis syndrome
Palmoplantar hyperkeratosis-spastic paralysis syndrome · Powell-Venencie-Gordon syndrome
Cerebellar ataxia-hypogonadism syndrome
Gordon-Holmes syndrome · Luteinizing hormone-releasing hormone deficiency with ataxia
Gordon syndrome
Distal arthrogryposis type 3 · Distal arthrogryposis type IIA
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder
PHAVER syndrome
Powell-Chandra-Saal syndrome
Rowell syndrome