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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 diarrhea 6
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Accession:DOID:0060780 term browser browse the term
Definition:A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12. (DO)
Synonyms:exact_synonym: DIAR6;   Diarrhea 6;   chronic diarrhea due to guanylate cyclase 2C overactivity;   chronic diarrhoea due to guanylate cyclase 2C overactivity;   congenital diarrhoea 6
 primary_id: OMIM:614616
 alt_id: DOID:9004022;   RDO:9000274;   RDO:9002632
 xref: ORDO:314373
For additional species annotation, visit the Alliance of Genome Resources.


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congenital diarrhea 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Diarrhea 6 ClinVar
OMIM
PMID:22436048, PMID:25741868 NCBI chr 4:170,659,993...170,740,274
Ensembl chr 4:170,659,998...170,740,274
JBrowse link
G LOC500354 similar to C030030A07Rik protein ISO ClinVar Annotator: match by term: Diarrhea 6 ClinVar PMID:22436048, PMID:25741868 NCBI chr 4:170,807,633...170,822,514
Ensembl chr 4:170,820,594...170,821,995
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          congenital diarrhea 10
            congenital diarrhea 6 2
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                congenital diarrhea 6 2
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.