congenital lactase deficiency

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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.

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• [2]
• [3]

Synonyms

• CLD
• congenital alactasia

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Cross References

• ICD10CM:E73.0
• MESH:C562600

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Parent Terms

• autosomal recessive disease
• carbohydrate metabolic disorder

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Child Terms

None

Sources of Associations

• RGD
• MGI
• ZFIN
• FB
• WB
• SGD

Associated Genes

Associated Alleles

Associated Models