congenital sucrase-isomaltase deficiency
A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose.
MONDO:0004905
intestinal disaccharidase deficiency
is_a
MONDO:0017706
disorder of carbohydrate transmembrane transport and absorption
is_a
CSID
exact
congenital sucrase-isomaltase deficiency
exact
congenital sucrose intolerance
exact
congenital sucrose-isomaltase malabsorption
related
disaccharide intolerance
exact
disaccharide intolerance, 1
related
genetic sucrase-isomaltose malabsorption
exact
sucrase-isomaltase deficiency
exact
sucrase-isomaltase deficiency, congenital
related
sucrose intolerance congenital
related
sucrose isomaltose enzyme deficiency
related
sucrose-isomaltase malabsorption, congenital
related
SPAC1039.11c SPAPB24D3.10c SPAC30D11.01c