OBO ID: DOID:0111646
Term Name: congenital lactase deficiency Search Ontology:
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. (3)
References:
Ontology: Human Disease   (DOID:0111646)
OTHER congenital lactase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LCT Lactase deficiency, congenital 223000
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None