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DO Term : congenital lactase deficiency [DOID:0111646] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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:
  • MESH:C562600,
  • OMIM:223000,
  • ORDO:53690,
  • congenital alactasia,
  • CLD,
  • UMLS_CUI:C0268179,
  • SNOMEDCT_US_2023_03_01:5388008,
  • congenital lactose intolerance,
  • congenital alactasia syndrome,
  • ICD10CM:E73.0,
  • congenital lactose malabsorption,
  • disaccharide intolerance II,
  • 223000
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Ontology Term --> Direct children

Ontology Term --> Direct parents