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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 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: DIAR7;   congenital chronic diarrhea with exudative enteropathy;   congenital chronic diarrhea with protein-losing enteropathy;   congenital chronic diarrhoea with exudative enteropathy;   congenital chronic diarrhoea with protein-losing enteropathy;   congenital diarrhoea 7 with exudative enteropathy;   diarrhea 7
 primary_id: OMIM:615863
 alt_id: DOID:9009029
 xref: ICD10CM:P78.3;   ORDO:329242
For additional species annotation, visit the Alliance of Genome Resources.


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congenital diarrhea 7 with exudative enteropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Diarrhea 7 OMIM
ClinVar
PMID:23114594, PMID:25326635, PMID:25741868, PMID:26883093 NCBI chr 7:117,566,363...117,576,735
Ensembl chr 7:117,566,368...117,576,737
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          congenital diarrhea 10
            congenital diarrhea 7 with exudative enteropathy 1
Path 2
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                congenital diarrhea 7 with exudative enteropathy 1
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.