congenital lactase deficiency (DOID:0111646)
Alliance: disease page
Synonyms: CLD; congenital alactasia; congenital alactasia syndrome; congenital lactose intolerance; congenital lactose malabsorption; disaccharide intolerance II
Alt IDs: OMIM:223000, ICD10CM:E73.0, MESH:C562600, ORDO:53690, UMLS_CUI:C0268179
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.