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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:congenital lactase deficiency
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Accession:DOID:0111646 term browser browse the term
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. (DO)
Synonyms:exact_synonym: CLD;   congenital alactasia;   congenital alactasia syndrome;   congenital lactose intolerance;   congenital lactose malabsorption;   disaccharide Intolerance II
 primary_id: MESH:C562600
 alt_id: OMIM:223000
 xref: ICD10CM:E73.0;   ORDO:53690
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
congenital lactase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lct lactase ISO ClinVar Annotator: match by OMIM:223000
ClinVar Annotator: match by term: Congenital lactase deficiency
PMID:16400612, PMID:19161632, PMID:22688420, PMID:23103231, PMID:28492532 NCBI chr13:44,998,414...45,040,593
Ensembl chr13:44,998,414...45,040,593
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Nutritional and Metabolic Diseases 4720
      disease of metabolism 4720
        inherited metabolic disorder 2223
          carbohydrate metabolic disorder 386
            congenital lactase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                congenital lactase deficiency 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.