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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"
Hurler-Scheie syndrome
MPS1H/S · MPSIH/S
Hurler syndrome
Hurler disease · MPS1H
Mucopolysaccharidosis type 1
Alpha-L-iduronidase deficiency · MPS1
Mucopolysaccharidosis type 10
Mucopolysaccharidosis type X · MSP type X
Scheie syndrome
MPS1S · MPSIS