Rare Disease Library

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"

4 matching diseasesClear search ×

Glucose-galactose malabsorption

CGGM · Congenital glucose-galactose malabsorption

ORPHA:35710

Hereditary folate malabsorption

Congenital folate malabsorption

ORPHA:90045

OBSOLETE: Congenital sucrase-isomaltase deficiency with starch and lactose intolerance

OBSOLETE: Congenital sucrose intolerance with starch and lactose intolerance · OBSOLETE: Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance

ORPHA:306474

OBSOLETE: Congenital sucrase-isomaltase deficiency without sucrose intolerance

OBSOLETE: CSID without sucrose intolerance · OBSOLETE: Disaccharide intolerance without sucrose intolerance

ORPHA:306486