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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"
Acrocephalopolydactyly
Acrocephalopolydactylous dysplasia · Elejalde acrocephalopolydactyly
Apert syndrome
ACS1 · Acrocephalosyndactyly type 1
Aurocephalosyndactyly
Auralcephalosyndactyly · Kurczynski-Casperson syndrome
Carpenter syndrome
ACPS2 · Acrocephalopolysyndactyly type 2
Goodman syndrome
ACPS4 · Acrocephalopolysyndactyly type 4
OBSOLETE: Acrocephalosyndactyly
OBSOLETE: Acrocephalosyndactylia
OBSOLETE: Sakati-Nyhan syndrome
OBSOLETE: ACPS III · OBSOLETE: Sakati syndrome
Pfeiffer syndrome
ACS5 · Acrocephalosyndactyly type 5
Saethre-Chotzen syndrome
ACS3 · Acrocephalosyndactyly type 3