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ONTOLOGY REPORT - ANNOTATIONS


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
 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 JBrowse Chr Start Stop Reference
G Gucy2c guanylate cyclase 2C JBrowse link 4 170,659,993 170,740,274 RGD:8554872
RGD:7240710
G LOC500354 similar to C030030A07Rik protein JBrowse link 4 170,807,633 170,822,514 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          congenital diarrhea 10
            congenital diarrhea 6 2
Path 2
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          monogenic disease 4558
            autosomal genetic disease 3509
              autosomal dominant disease 2076
                congenital diarrhea 6 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.