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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 term: Congenital lactase deficiency OMIM
ClinVar
PMID:9536098 PMID:16400612 PMID:17576681 PMID:19161632 PMID:22688420 More... NCBI chr13:39,781,929...39,824,456
Ensembl chr13:39,781,929...39,824,456
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital lactase deficiency 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                congenital lactase deficiency 1
paths to the root