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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:A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose. (DO)
Synonyms:exact_synonym: Dairy Product Intolerance;   Hypolactasia;   LM - lactose malabsorption;   Lactose Malabsorption;   alactasia;   milk sugar intolerance
 primary_id: MESH:D007787
 xref: ICD10CM:E73;   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:25741868 PMID:28492532 NCBI chr13:39,781,929...39,824,456
Ensembl chr13:39,781,929...39,824,456
JBrowse link
G Mcm6 minichromosome maintenance complex component 6 ISS OMIM:223100 MouseDO NCBI chr13:39,826,745...39,851,937
Ensembl chr13:39,826,763...39,851,960
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 chr13:39,826,745...39,851,937
Ensembl chr13:39,826,763...39,851,960
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    syndrome 9686
      Malabsorption Syndromes 196
        lactose intolerance 2
          Lactose Intolerance, Adult Type 1
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          inherited metabolic disorder 4663
            carbohydrate metabolic disorder 2561
              lactose intolerance 2
                Lactose Intolerance, Adult Type 1
paths to the root