FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital lactase deficiency ID (Ontology) DOID:0111646 (Human Disease)
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.
Also Known As "CLD" ; "congenital alactasia" ; "congenital alactasia syndrome" (for all, see Synonyms field below)
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 Genes
 congenital lactase deficiency       1
 for disease ribbon | congenital lactase deficiency       1
 model of | congenital lactase deficiency       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease______
disease                              |
 |__physical disorder________________|
inherited metabolic disorder         |
 |__carbohydrate metabolic disorder__|
                                     congenital lactase deficiency  1 rec.
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Is a autosomal recessive disease
physical disorder
carbohydrate metabolic disorder
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Synonyms
  • "CLD" EXACT OMO:0003012
    "congenital alactasia" EXACT
    "congenital alactasia syndrome" EXACT
    "congenital lactose intolerance" EXACT
    "congenital lactose malabsorption" EXACT
    "disaccharide intolerance II" EXACT
Secondary IDs
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ICD10CM:E73.0
MESH:C562600
MIM:223000
ORDO:53690
SNOMEDCT_US_2023_03_01:5388008
UMLS_CUI:C0268179