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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:short bowel syndrome
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Accession:DOID:10605 term browser browse the term
Definition:An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine. (DO)
Synonyms:exact_synonym: CSBS;   acquired short bowel syndrome;   congenital short bowel syndrome;   congenital short bowel syndrome 1;   short bowel syndromes;   short gut syndrome
 narrow_synonym: congenital short bowel syndrome, X-linked
 primary_id: MESH:D012778
 alt_id: OMIM:615237
 xref: NCI:C99059
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
short bowel syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brd4 bromodomain containing 4 ISO ClinVar Annotator: match by term: Congenital short bowel syndrome 1 ClinVar PMID:25741868 NCBI chr 7:11,216,446...11,296,029
Ensembl chr 7:11,216,446...11,295,539 		JBrowse link
G Clmp CXADR-like membrane protein ISO ClinVar Annotator: match by term: Congenital short bowel syndrome 1 OMIM
ClinVar		 PMID:16707984 PMID:18209785 PMID:22155368 PMID:25741868 PMID:27352967 More... NCBI chr 8:41,060,527...41,168,841
Ensembl chr 8:41,060,799...41,168,838 		JBrowse link
G Insr insulin receptor treatment IEP RGD PMID:19847442 RGD:10403044 NCBI chr12:1,193,193...1,330,976
Ensembl chr12:1,197,100...1,330,883 		JBrowse link
G Lep leptin IDA RGD PMID:19730157 RGD:5128624 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262 		JBrowse link
G Lepr leptin receptor IEP mRNA:increased expression:small intestine RGD PMID:19730157 RGD:5128624 NCBI chr 5:116,294,409...116,477,904
Ensembl chr 5:116,289,823...116,475,908 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      Malabsorption Syndromes 218
        short bowel syndrome 5
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      gastrointestinal system disease 6971
        intestinal disease 3063
          Malabsorption Syndromes 218
            short bowel syndrome 5
paths to the root