| Metadata | |
|---|---|
| ID | DOID:0111646 |
| Name | congenital lactase deficiency |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/5419986, https://ghr.nlm.nih.gov/condition/lactose-intolerance, https://www.ncbi.nlm.nih.gov/pubmed/16400612 |
| Xrefs |
SNOMEDCT_US_2023_03_01:5388008 |
| Subsets |
DO_rare_slim |
| Synonyms |
CLD [EXACT] congenital alactasia [EXACT] congenital alactasia syndrome [EXACT] congenital lactose intolerance [EXACT] congenital lactose malabsorption [EXACT] disaccharide intolerance II [EXACT] |
| Parent Relationships |
is_a carbohydrate metabolic disorder is_a autosomal recessive disease is_a physical disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has basis in some Abnormality of prenatal development or birth |