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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"
Schilder disease
Myelinoclastic diffuse sclerosis
CACH syndrome
Childhood ataxia with diffuse central nervous system hypomyelination · Leukoencephalopathy with vanishing white matter
Diffuse cutaneous systemic sclerosis
Diffuse cutaneous systemic scleroderma · Progressive cutaneous systemic scleroderma
Pelizaeus-Merzbacher disease
Diffuse familial brain sclerosis · PMD