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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"
Primary lateral sclerosis
Adult-onset PLS · Adult-onset primary lateral sclerosis
Amyotrophic lateral sclerosis
ALS · Charcot disease
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
IBMPFD · Limb-girdle muscular dystrophy with Paget disease of bone
Juvenile primary lateral sclerosis
JPLS · Juvenile PLS
Primary megaureter, adult-onset form