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DOID:0111646 - congenital lactase deficiency
Disease Ontology 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.
Synonyms: CLD, congenital alactasia, congenital alactasia syndrome, congenital lactose intolerance, congenital lactose malabsorption, disaccharide intolerance II
Xenbase Genes
:
lct.2,
lct.1
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
carbohydrate metabolic disorder (is_a),
physical disorder (is_a)