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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"
Hereditary folate malabsorption
Congenital folate malabsorption
Congenital limb malformation
Congenital mitral malformation
Glucose-galactose malabsorption
CGGM · Congenital glucose-galactose malabsorption
OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance
OBSOLETE: CSID without sucrose intolerance · OBSOLETE: Disaccharide intolerance without sucrose intolerance