ZFIN Human Disease: congenital lactase deficiency

OBO ID: DOID:0111646

Term Name:	congenital lactase deficiency		Search Ontology:
Synonyms:	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:	ICD10CM:E73.0 MESH:C562600 OMIM:223000 ORDO:53690 SNOMEDCT_US_2023_03_01:5388008 UMLS_CUI:C0268179
Ontology:	Human Disease ( DOID:0111646 )

Relationships

is a type of:	autosomal recessive disease carbohydrate metabolic disorder physical disorder autosomal recessive disease carbohydrate metabolic disorder physical disorder Show first 5 Terms

OTHER congenital lactase deficiency PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LCT	lct	Lactase deficiency, congenital	223000

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None