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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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.


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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
OMIM
ClinVar
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 16091
    physical disorder 2462
      congenital lactase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                congenital lactase deficiency 1
paths to the root