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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
 xref: ORDO:314373


show annotations for term's descendants           Sort by:
congenital diarrhea 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C12orf60 chromosome 12 open reading frame 60 IAGP ClinVar Annotator: match by term: Congenital diarrhea 6 ClinVar PMID:22436048 PMID:25741868 NCBI chr12:14,803,670...14,824,415
Ensembl chr12:14,803,666...14,906,586 		JBrowse link
G GUCY2C guanylate cyclase 2C IAGP ClinVar Annotator: match by term: Congenital diarrhea 6 ClinVar
OMIM		 PMID:22436048 PMID:24033266 PMID:25741868 PMID:28492532 PMID:33883099 NCBI chr12:14,612,632...14,696,599
Ensembl chr12:14,612,632...14,696,599 		JBrowse link
G GUCY2C-AS1 GUCY2C antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital diarrhea 6 ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr12:14,665,636...14,736,219 JBrowse link
G PLBD1-AS1 PLBD1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Congenital diarrhea 6 ClinVar NCBI chr12:14,567,732...14,619,755
Ensembl chr12:14,567,393...14,624,191 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35753
    physical disorder 7158
      congenital diarrhea 26
        congenital diarrhea 6 4
Path 2
Term Annotations click to browse term
  disease 35753
    Developmental Disease 28609
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 24645
        genetic disease 23839
          monogenic disease 18585
            autosomal genetic disease 16856
              autosomal dominant disease 10967
                congenital diarrhea 6 4
paths to the root