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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:bowel dysfunction
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Accession:DOID:9779 term browser browse the term
Synonyms:primary_id: RDO:9004382
 xref: ICD10CM:K59.9;   ICD9CM:564.9
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
constipation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gcg glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:12107204 NCBI chr 3:47,113,914...47,122,929
Ensembl chr 3:47,113,914...47,122,929
JBrowse link
G Gpbar1 G protein-coupled bile acid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23041323 NCBI chr 9:75,862,151...75,863,140
Ensembl chr 9:75,860,677...75,863,168
JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27192616 NCBI chr 1:43,160,057...43,413,409
Ensembl chr 1:43,160,057...43,413,409
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:3421781 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19022366 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Dyschezia ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
JBrowse link
FG syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:19200522 RGD:11576290 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Flna filamin A ISO CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
G Med12 mediator complex subunit 12 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Keller syndrome
DNA:missense mutation:cds:2881C>T(p.R961W)(human)
DNA:missense mutation:cds:p.G958E(human)
CTD
ClinVar
RGD
PMID:10982179 PMID:17334363 PMID:18414213 PMID:20301719 PMID:23757202 More... RGD:12910952, RGD:12910948 NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gjb1 gap junction protein, beta 1 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,501,848...66,509,783
Ensembl chr  X:66,501,820...66,509,925
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar
PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More... NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387
JBrowse link
G Nlgn3 neuroligin 3 ISO ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:66,427,926...66,457,378
Ensembl chr  X:66,429,458...66,451,876
JBrowse link
FG Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flna filamin A ISO ClinVar Annotator: match by term: FG syndrome 2 ClinVar
OMIM
PMID:16299064 PMID:17632775 PMID:25167861 PMID:25741868 PMID:28133863 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
FG Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cask calcium/calmodulin dependent serine protein kinase ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked
ClinVar Annotator: match by term: FG syndrome 4
ClinVar Annotator: match by term: CASK-Related Disorder
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:19165920 More... NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694
JBrowse link
G Gpr34 G protein-coupled receptor 34 ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked ClinVar PMID:21735175 PMID:28492532 NCBI chr  X:9,104,829...9,113,796
Ensembl chr  X:9,104,565...9,148,601
JBrowse link
G Gpr82 G protein-coupled receptor 82 ISO ClinVar Annotator: match by term: Mental retardation, CASK-related, X-linked ClinVar PMID:21735175 PMID:28492532 NCBI chr  X:9,079,653...9,081,259
Ensembl chr  X:9,080,254...9,081,240
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      gastrointestinal system disease 6078
        intestinal disease 2461
          bowel dysfunction 14
            constipation + 14
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      gastrointestinal system disease 6078
        Gastrointestinal Diseases 4157
          intestinal disease 2461
            bowel dysfunction 14
              constipation + 14
paths to the root