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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"
Kennedy disease
SBMA · X-linked BSMA
Bulbospinal muscular atrophy
Kugelberg-Welander disease · SMA
Bulbospinal muscular atrophy of adult
Generalized bulbospinal muscular atrophy
Infantile-onset X-linked spinal muscular atrophy
X-linked distal hereditary motor neuropathy
X-linked dHMN · X-linked distal spinal muscular atrophy