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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"
Acrocallosal syndrome
ACS
Apert syndrome
ACS1 · Acrocephalosyndactyly type 1
Pfeiffer syndrome
ACS5 · Acrocephalosyndactyly type 5
Saethre-Chotzen syndrome
ACS3 · Acrocephalosyndactyly type 3
Isaacs syndrome
Continuous muscle fiber activity syndrome · Quantal squander syndrome
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Autosomal recessive spastic ataxia type 6 · ARSACS