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congenital diarrhea 7 with exudative enteropathy - Ontology Report - Rat Genome Database

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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: DGAT1-RELATED CONDITION;   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: MIM:615863
 alt_id: DOID:9009029
 xref: ICD10CM:P78.3;   ORDO:329242

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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 N Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy | ClinVar Annotator: match by term: DGAT1-related condition | ClinVar Annotator: match by term: Diarrhea 7 OMIM
ClinVar		 PMID:16199547 PMID:23114594 PMID:25326635 PMID:25741868 PMID:26883093 More... NCBI chrNW_004624735:12,525,120...12,535,436
Ensembl chrNW_004624735:12,525,284...12,535,193 		JBrowse link
G G DGAT1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy | ClinVar Annotator: match by term: DGAT1-related condition | ClinVar Annotator: match by term: Diarrhea 7 OMIM
ClinVar		 PMID:16199547 PMID:23114594 PMID:25326635 PMID:25741868 PMID:26883093 More... NCBI chr 8:138,531,113...138,541,721
Ensembl chr 8:138,531,384...138,541,637 		JBrowse link
G P DGAT1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy | ClinVar Annotator: match by term: DGAT1-related condition | ClinVar Annotator: match by term: Diarrhea 7 OMIM
ClinVar		 PMID:16199547 PMID:23114594 PMID:25326635 PMID:25741868 PMID:26883093 More... NCBI chr 4:452,890...463,665
Ensembl chr 4:452,662...466,684 		JBrowse link
G S Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy | ClinVar Annotator: match by term: DGAT1-related condition | ClinVar Annotator: match by term: Diarrhea 7 OMIM
ClinVar		 PMID:16199547 PMID:23114594 PMID:25326635 PMID:25741868 PMID:26883093 More... NCBI chrNW_004936470:7,916,438...7,926,089
Ensembl chrNW_004936470:7,916,438...7,926,088 		JBrowse link
G D DGAT1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy | ClinVar Annotator: match by term: DGAT1-related condition | ClinVar Annotator: match by term: Diarrhea 7 OMIM
ClinVar		 PMID:16199547 PMID:23114594 PMID:25326635 PMID:25741868 PMID:26883093 More... NCBI chr13:37,745,395...37,761,337
Ensembl chr13:37,741,706...37,756,916 		JBrowse link
G B DGAT1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy | ClinVar Annotator: match by term: DGAT1-related condition | ClinVar Annotator: match by term: Diarrhea 7 OMIM
ClinVar		 PMID:16199547 PMID:23114594 PMID:25326635 PMID:25741868 PMID:26883093 More... NCBI chr 8:141,079,948...141,090,619
Ensembl chr 8:144,064,587...144,080,155 		JBrowse link
G C Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy | ClinVar Annotator: match by term: DGAT1-related condition | ClinVar Annotator: match by term: Diarrhea 7 OMIM
ClinVar		 PMID:16199547 PMID:23114594 PMID:25326635 PMID:25741868 PMID:26883093 More... NCBI chrNW_004955454:2,933,904...2,944,675
Ensembl chrNW_004955454:2,934,152...2,944,492 		JBrowse link
G R Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy | ClinVar Annotator: match by term: DGAT1-related condition | ClinVar Annotator: match by term: Diarrhea 7 OMIM
ClinVar		 PMID:16199547 PMID:23114594 PMID:25326635 PMID:25741868 PMID:26883093 More... NCBI chr 7:110,104,514...110,119,091
Ensembl chr 7:108,218,524...108,234,299 		JBrowse link
G M Dgat1 diacylglycerol O-acyltransferase 1 ISO ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy | ClinVar Annotator: match by term: DGAT1-related condition | ClinVar Annotator: match by term: Diarrhea 7 OMIM
ClinVar		 PMID:16199547 PMID:23114594 PMID:25326635 PMID:25741868 PMID:26883093 More... NCBI chr15:76,386,215...76,396,167
Ensembl chr15:76,386,215...76,396,153 		JBrowse link
G H DGAT1 diacylglycerol O-acyltransferase 1 IAGP ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy | ClinVar Annotator: match by term: DGAT1-related condition
ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy | ClinVar Annotator: match by term: Diarrhea 7		 OMIM
ClinVar		 PMID:16199547 PMID:23114594 PMID:25326635 PMID:25741868 PMID:26883093 More... NCBI chr 8:144,314,584...144,326,852
Ensembl chr 8:144,314,584...144,326,910 		JBrowse link
G H LOC130001382 ATAC-STARR-seq lymphoblastoid active region 28092 IAGP ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy ClinVar PMID:25741868 NCBI chr 8:144,316,354...144,316,413 JBrowse link
G H LOC130001383 ATAC-STARR-seq lymphoblastoid active region 28093 IAGP ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy ClinVar PMID:25741868 NCBI chr 8:144,317,264...144,317,513 JBrowse link
G H LOC130001385 ATAC-STARR-seq lymphoblastoid silent region 19672 IAGP ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy ClinVar PMID:25741868 NCBI chr 8:144,326,479...144,326,548 JBrowse link
G H LOC130001386 ATAC-STARR-seq lymphoblastoid silent region 19673 IAGP ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy ClinVar PMID:25741868 PMID:28492532 PMID:29604290 NCBI chr 8:144,326,559...144,327,278 JBrowse link
G H MIR6848 microRNA 6848 IAGP ClinVar Annotator: match by term: Congenital diarrhea 7 with exudative enteropathy
ClinVar Annotator: match by term: DGAT1-related condition		 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:144,317,246...144,317,315
Ensembl chr 8:144,317,246...144,317,315 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    physical disorder 54044
      congenital diarrhea 163
        congenital diarrhea 7 with exudative enteropathy 15
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        genetic disease 151803
          monogenic disease 118451
            autosomal genetic disease 112806
              autosomal recessive disease 73856
                congenital diarrhea 7 with exudative enteropathy 15
paths to the root