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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://ghr.nlm.nih.gov/condition/lactose-intolerance, https://www.ncbi.nlm.nih.gov/pubmed/16400612, https://www.ncbi.nlm.nih.gov/pubmed/5419986
Xrefs

ICD10CM:E73.0

MESH:C562600

OMIM:223000

ORDO:53690

SNOMEDCT_US_2023_03_01:5388008

UMLS_CUI:C0268179

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 physical disorder

is_a autosomal recessive disease

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