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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital diarrhea 7 with exudative enteropathy
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Accession:DOID:0060778 term browser browse the term
Definition:A congenital diarrhea characterized by watery diarrhea, protein-losing enteropathy, patchy areas of dystrophic microvilli in the duodenum and patchy areas of villous atrophy that has_material_basis_in homozygous mutation in the DGAT1 gene on chromosome 8q24.3. (DO)
Synonyms:exact_synonym: congenital chronic diarrhea with exudative enteropathy;   congenital chronic diarrhea with protein-losing enteropathy
 primary_id: OMIM:615863
 alt_id: RDO:9002629
 xref: ORDO:329242
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congenital diarrhea 7 with exudative enteropathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dgat1 diacylglycerol O-acyltransferase 1 JBrowse link 7 117,566,363 117,576,735 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          congenital diarrhea 10
            congenital diarrhea 7 with exudative enteropathy 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                congenital diarrhea 7 with exudative enteropathy 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.