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RGD uses the Human Disease Ontology (DO, 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: CONGENITAL SHORT BOWEL SYNDROME, AUTOSOMAL RECESSIVE;   CSBS;   congenital short bowel syndrome;   congenital short bowel syndrome 1;   short gut syndrome
 related_synonym: acquired short bowel syndrome
 primary_id: MIM:615237
 alt_id: MESH:D012778
 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 Clmp CXADR-like membrane protein ISO ClinVar Annotator: match by term: Congenital short bowel syndrome, autosomal recessive OMIM
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 18973
    syndrome 10901
      Malabsorption Syndromes 214
        short bowel syndrome 4
Path 2
Term Annotations click to browse term
  disease 18973
    disease of anatomical entity 18268
      gastrointestinal system disease 7103
        intestinal disease 3084
          Malabsorption Syndromes 214
            short bowel syndrome 4
paths to the root