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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:lactose intolerance
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Accession:DOID:10604 term browser browse the term
Definition:The condition resulting from the absence or deficiency of LACTASE in the MUCOSA cells of the GASTROINTESTINAL TRACT, and the inability to break down LACTOSE in milk for ABSORPTION. Bacterial fermentation of the unabsorbed lactose leads to symptoms that range from a mild indigestion (DYSPEPSIA) to severe DIARRHEA. Lactose intolerance may be an inborn error or acquired.
Synonyms:exact_synonym: Dairy Product Intolerance;   Hypolactasia;   LM - Lactose malabsorption;   Lactose Malabsorption;   alactasia;   milk sugar intolerance
 primary_id: MESH:D007787
 alt_id: RDO:0005954
 xref: ICD10CM:E73;   ICD10CM:E73.9;   NCI:C3154
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
lactose intolerance term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lct lactase ISO ClinVar Annotator: match by term: Lactose intolerance ClinVar PMID:28492532 NCBI chr13:44,998,414...45,040,593
Ensembl chr13:44,998,414...45,040,593
JBrowse link
G Mcm6 minichromosome maintenance complex component 6 ISS OMIM:223100 MouseDO NCBI chr13:45,042,882...45,068,073
Ensembl chr13:45,042,882...45,068,077
JBrowse link
Lactose Intolerance, Adult Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm6 minichromosome maintenance complex component 6 ISO ClinVar Annotator: match by term: Lactose intolerance, adult type OMIM
ClinVar
PMID:25741868 NCBI chr13:45,042,882...45,068,073
Ensembl chr13:45,042,882...45,068,077
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Malabsorption Syndromes 118
        lactose intolerance 2
          Lactose Intolerance, Adult Type 1
Path 2
Term Annotations click to browse term
  disease 0
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          inherited metabolic disorder 2223
            carbohydrate metabolic disorder 386
              lactose intolerance 2
                Lactose Intolerance, Adult Type 1
paths to the root

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