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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"
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
ALSP · Autosomal dominant leukoencephalopathy with neuroaxonal spheroids
Amyotrophic lateral sclerosis
ALS · Charcot disease
Amyotrophic lateral sclerosis type 4
ALS · ALS4
Aplasia of lacrimal and salivary glands
ALSG · Congenital absence of lacrimal puncta and salivary glands
Juvenile amyotrophic lateral sclerosis