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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:Constipation
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Accession:DOID:9001581 term browser browse the term
Definition:A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces.
Comment:DO: reviewed 10/2022 & determined to be a symptom
Synonyms:exact_synonym: Colonic Inertia;   Dyschezia
 primary_id: MESH:D003248
 alt_id: DOID:2089
 xref: ICD10CM:K59.0;   ICD9CM:564.0;   NCI:C37930


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Constipation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GCG glucagon EXP CTD Direct Evidence: marker/mechanism CTD PMID:12107204 NCBI chr 2:162,142,882...162,152,247
Ensembl chr 2:162,142,882...162,152,404 		JBrowse link
G GPBAR1 G protein-coupled bile acid receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23041323 NCBI chr 2:218,259,496...218,263,861
Ensembl chr 2:218,259,496...218,263,861 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase ISO mRNA, protein:decreased expression:colon RGD PMID:33792838 RGD:152025536 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G KITLG KIT ligand ISO mRNA, protein:decreased expression:colon RGD PMID:33792838 RGD:152025536 NCBI chr12:88,492,793...88,580,471
Ensembl chr12:88,492,793...88,580,851 		JBrowse link
G MIR222 microRNA 222 ISO RNA:increased expression:colon RGD PMID:33792838 RGD:152025536 NCBI chr  X:45,747,015...45,747,124
Ensembl chr  X:45,747,015...45,747,124 		JBrowse link
G OPRM1 opioid receptor mu 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:27192616 NCBI chr 6:154,010,496...154,246,867
Ensembl chr 6:154,010,496...154,246,867 		JBrowse link
G POMC proopiomelanocortin EXP CTD Direct Evidence: therapeutic CTD PMID:3421781 NCBI chr 2:25,160,860...25,168,580
Ensembl chr 2:25,160,853...25,168,903 		JBrowse link
G PON1 paraoxonase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19022366 NCBI chr 7:95,297,676...95,324,532
Ensembl chr 7:95,297,676...95,324,532 		JBrowse link
G RET ret proto-oncogene IAGP ClinVar Annotator: match by term: Constipation ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma IAGP ClinVar Annotator: match by term: Constipation ClinVar PMID:25741868 PMID:28492532 PMID:31926053 NCBI chr 7:76,326,799...76,358,991
Ensembl chr 7:76,326,799...76,358,991 		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 IAGP
EXP		 DNA:missense mutation:exon:p.R28L (c.83G>T) (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:19200522 RGD:11576290 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G FLNA filamin A EXP CTD Direct Evidence: marker/mechanism CTD PMID:17632775 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G LOC126863275 BRD4-independent group 4 enhancer GRCh37_chrX:70342400-70343599 IAGP ClinVar Annotator: match by term: FG syndrome
ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome		 ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:28492532 PMID:33023636 NCBI chr  X:71,122,550...71,123,749 JBrowse link
G MED12 mediator complex subunit 12 IAGP
EXP		 DNA:missense mutation:cds:p.G958E(human)
ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome
ClinVar Annotator: match by term: FG syndrome | ClinVar Annotator: match by term: Keller syndrome | ClinVar Annotator: match by term: Opitz-Kaveggia syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:2881C>T(p.R961W)(human)		 ClinVar
CTD
RGD		 PMID:6711603 PMID:8279489 PMID:9536098 PMID:10405444 PMID:10982179 More... RGD:12910948, RGD:12910952 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
FG Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CXorf65 chromosome X open reading frame 65 IAGP ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:71,103,889...71,106,740
Ensembl chr  X:71,103,889...71,106,788 		JBrowse link
G FOXO4 forkhead box O4 IAGP ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:71,095,851...71,103,532
Ensembl chr  X:71,095,851...71,103,532 		JBrowse link
G GJB1 gap junction protein beta 1 IAGP ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:71,215,239...71,225,516
Ensembl chr  X:71,212,811...71,225,516 		JBrowse link
G IL2RG interleukin 2 receptor subunit gamma IAGP ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:71,107,404...71,111,577
Ensembl chr  X:71,107,404...71,112,108 		JBrowse link
G ITGB1BP2 integrin subunit beta 1 binding protein 2 IAGP ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:71,301,750...71,305,371
Ensembl chr  X:71,301,750...71,305,371 		JBrowse link
G LOC126863275 BRD4-independent group 4 enhancer GRCh37_chrX:70342400-70343599 IAGP ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:20301719 PMID:25741868 PMID:28492532 PMID:34079076 NCBI chr  X:71,122,550...71,123,749 JBrowse link
G MED12 mediator complex subunit 12 IAGP ClinVar Annotator: match by term: FG syndrome 1 OMIM
ClinVar		 PMID:6711603 PMID:8279489 PMID:9286458 PMID:9536098 PMID:10405444 More... NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G NLGN3 neuroligin 3 IAGP ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:71,144,841...71,175,307
Ensembl chr  X:71,144,821...71,175,255 		JBrowse link
G NONO non-POU domain containing octamer binding IAGP ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G SLC7A3 solute carrier family 7 member 3 IAGP ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,925,579...70,931,096
Ensembl chr  X:70,925,579...70,931,125 		JBrowse link
G SNX12 sorting nexin 12 IAGP ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:71,059,247...71,073,426
Ensembl chr  X:71,056,332...71,073,426 		JBrowse link
G TAF1 TATA-box binding protein associated factor 1 IAGP ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:71,366,357...71,530,525
Ensembl chr  X:71,366,222...71,532,374 		JBrowse link
G TEX11 testis expressed 11 IAGP ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:70,511,227...70,908,711
Ensembl chr  X:70,528,940...70,908,711 		JBrowse link
G ZMYM3 zinc finger MYM-type containing 3 IAGP ClinVar Annotator: match by term: FG syndrome 1 ClinVar PMID:28492532 NCBI chr  X:71,239,624...71,255,290
Ensembl chr  X:71,239,624...71,255,146 		JBrowse link
FG Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP ClinVar Annotator: match by term: FG syndrome 2 OMIM
ClinVar		 PMID:10982489 PMID:12612583 PMID:16299064 PMID:16417552 PMID:16822260 More... NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G LOC107988032 Xq28 proximal FLNA-EMD recombination region IAGP ClinVar Annotator: match by term: FG syndrome 2 ClinVar PMID:25741868 PMID:28492532 PMID:35000503 NCBI chr  X:154,335,912...154,349,572 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 IAGP ClinVar Annotator: match by term: FG syndrome 4
ClinVar Annotator: match by term: CASK-Related Disorder | ClinVar Annotator: match by term: FG syndrome 4		 ClinVar
OMIM		 PMID:18414213 PMID:19165920 PMID:19200522 PMID:19377476 PMID:20029458 More... NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21470
      Signs and Symptoms 16324
        Digestive Signs and Symptoms 239
          Constipation 27
            Anal Sphincter Dysplasia 0
            FG syndrome + 17
            Opioid-Induced Constipation 0
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32346
      gastrointestinal system disease 8168
        intestinal disease 3517
          bowel dysfunction 27
            Constipation 27
              Anal Sphincter Dysplasia 0
              FG syndrome + 17
              Opioid-Induced Constipation 0
paths to the root