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congenital lactase deficiency
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease carbohydrate metabolic disorder physical disorder
External Links
- Disease Ontology
- DOID:0111646
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002014 | Diarrhea |
| HP:0001942 | Metabolic acidosis |
| HP:0004789 | Lactose intolerance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003623 | Neonatal onset |
| HP:0001944 | Dehydration |
