Term Name: | congenital lactase deficiency |
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Synonyms: | CLD, congenital alactasia, congenital alactasia syndrome, congenital lactose intolerance, congenital lactose malabsorption, disaccharide intolerance II |
Definition: | A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3. |
Ontology: | Human Disease [DOID:0111646] ( DOID:0111646 ) |