Search Ontology:
Human Disease
congenital lactase deficiency
- Term ID
- DOID:0111646
- Synonyms
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- 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
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- ICD10CM:E73.0
- MESH:C562600
- MIM:223000
- ORDO:53690
- SNOMEDCT_US_2023_03_01:5388008
- UMLS_CUI:C0268179
- Ontology
- Human Disease ( DOID:0111646 )
- is a type of
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Genes Involved
Zebrafish Models