Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:intestinal pseudo-obstruction
go back to main search page
Accession:DOID:0080072 term browser browse the term
Definition:A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract. (DO)
Synonyms:exact_synonym: CONGENITAL SHORT BOWEL SYNDROME 1;   CSBS;   Chronic intestinal pseudo-obstruction;   Chronic intestinal pseudoobstruction;   Congenital Short Bowel Syndrome;   Enteric Neuropathy;   Idiopathic Intestinal Pseudo-Obstruction;   Intestinal Pseudoobstruction;   Intestinal Pseudoobstructions;   Intestinal pseudoobstruction due to neuronal disease;   Neuronal Intestinal Pseudoobstruction;   Pseudointestinal Obstruction Syndrome;   Pseudoobstruction, chronic idiopathic intestinal, neuronal type;   chronic idiopathic intestinal pseudo-obstruction;   deficiency of argyrophil myenteric plexus;   familial visceral neuropathy, autosomal recessive;   idiopathic intestinal pseudo-obstructions;   intestinal pseudo-obstructions;   intestine pseudoobstruction;   neuronal intestinal dysplasia;   pseudo-obstruction of intestine;   pseudoobstructive syndrome;   visceral myopathies;   visceral myopathy
 narrow_synonym: Congenital Short Bowel Syndrome, X-Linked
 primary_id: MESH:D007418
 alt_id: DOID:3878;   MESH:C537394;   OMIM:615237
 xref: GARD:12744;   GARD:6789;   NCI:C34733;   ORDO:2978
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
intestinal pseudo-obstruction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: Visceral myopathy
ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction
ClinVar PMID:11474115 PMID:21681106 PMID:22960657 PMID:23806086 PMID:24088041 More... NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
JBrowse link
G Clmp CXADR-like membrane protein ISO ClinVar Annotator: match by term: Congenital short bowel syndrome
ClinVar Annotator: match by term: Congenital short bowel syndrome 1
ClinVar
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 Erbb3 erb-b2 receptor tyrosine kinase 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Neuronal intestinal pseudoobstruction
CTD
ClinVar
PMID:25741868 PMID:33497358 NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
JBrowse link
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: Visceral myopathy ClinVar PMID:28292896 NCBI chr13:46,754,048...46,796,186
Ensembl chr13:46,754,033...46,794,900
JBrowse link
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: Visceral myopathy
ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction
ClinVar PMID:25407000 PMID:31389005 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
G Myl9 myosin light chain 9 ISO ClinVar Annotator: match by term: Visceral myopathy ClinVar PMID:21293372 PMID:25741868 PMID:29453416 PMID:33031641 NCBI chr 3:145,281,943...145,288,333
Ensembl chr 3:145,281,937...145,288,333
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Visceral myopathy ClinVar PMID:28602422 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction ClinVar PMID:31389005 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
JBrowse link
G Nup35 nucleoporin 35 ISS MouseDO NCBI chr 3:65,555,203...65,594,488
Ensembl chr 3:65,558,968...65,585,130
JBrowse link
G Pten phosphatase and tensin homolog ISS MouseDO NCBI chr 1:230,631,303...230,696,754
Ensembl chr 1:230,630,338...230,696,838
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO RGD PMID:24177421 RGD:8547979 NCBI chr15:48,371,295...48,502,473
Ensembl chr15:48,371,296...48,502,302
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISS OMIM:243180 | OMIM:601223 MouseDO NCBI chr15:82,692,312...82,697,408
Ensembl chr15:82,692,143...82,698,009
JBrowse link
G Tlx2 T-cell leukemia homeobox 2 ISS OMIM:243180 | OMIM:601223 MouseDO NCBI chr 4:115,573,736...115,576,097
Ensembl chr 4:115,573,799...115,575,642
JBrowse link
autosomal dominant familial visceral neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: Visceral neuropathy, familial, autosomal dominant ClinVar PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 PMID:25326635 More... NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
JBrowse link
chronic atrial and intestinal dysrhythmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sgo1 shugoshin 1 ISO ClinVar Annotator: match by OMIM:616201 ClinVar
OMIM
PMID:25282101 NCBI chr 9:6,672,109...6,687,908
Ensembl chr 9:6,672,123...6,687,805
JBrowse link
Familial Visceral Myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:22960657 NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
JBrowse link
megacystis-microcolon-intestinal hypoperistalsis syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD
OMIM
PMID:24337657 PMID:24676022 NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISS OMIM:155310 MouseDO NCBI chr17:60,005,137...60,467,250
Ensembl chr17:60,005,202...60,467,278
JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mylk myosin light chain kinase ISO OMIM NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261
JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2 OMIM
ClinVar
PMID:25407000 PMID:25741868 PMID:29575632 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3 OMIM
ClinVar
PMID:28292896 NCBI chr13:46,754,048...46,796,186
Ensembl chr13:46,754,033...46,794,900
JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myl9 myosin light chain 9 ISO ClinVar Annotator: match by term: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4 ClinVar
OMIM
PMID:21293372 PMID:25741868 PMID:33031641 NCBI chr 3:145,281,943...145,288,333
Ensembl chr 3:145,281,937...145,288,333
JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actg2 actin gamma 2, smooth muscle ISO ClinVar Annotator: match by term: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5 OMIM
ClinVar
PMID:11474115 PMID:23806086 PMID:24088041 PMID:24337657 PMID:24676022 More... NCBI chr 4:116,021,832...116,046,475
Ensembl chr 4:116,021,832...116,046,465
JBrowse link
mitochondrial DNA depletion syndrome 8A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fanci FA complementation group I ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:15477547 PMID:16177225 PMID:17088268 PMID:17426723 PMID:17438011 More... NCBI chr 1:133,327,264...133,383,661
Ensembl chr 1:133,327,297...133,383,640
JBrowse link
G Ncaph2 non-SMC condensin II complex, subunit H2 ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr 7:120,422,926...120,439,942
Ensembl chr 7:120,422,956...120,439,938
JBrowse link
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:632821 PMID:11431686 PMID:11571332 PMID:12210792 PMID:12297582 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567
JBrowse link
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: RRM2B-related mitochondrial disease
ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy
ClinVar Annotator: match by OMIM:612075
ClinVar
OMIM
PMID:9536098 PMID:17486094 PMID:17576681 PMID:19138848 PMID:19664747 More... NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome
ClinVar PMID:2005900 PMID:9924029 PMID:10852545 PMID:12529715 PMID:14720311 More... NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
mitochondrial DNA depletion syndrome 8b term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rrm2b ribonucleotide reductase regulatory TP53 inducible subunit M2B ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8B (MNGIE type)
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:19667227 PMID:24741716 NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
JBrowse link
G Tymp thymidine phosphorylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16972839 PMID:22977166 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
Mungan Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rad21 RAD21 cohesin complex component ISO ClinVar Annotator: match by term: Mungan syndrome OMIM
ClinVar
PMID:14638363 PMID:25575569 PMID:25741868 NCBI chr 7:83,287,867...83,314,810
Ensembl chr 7:83,287,870...83,314,817
JBrowse link
neuronal intestinal dysplasia type A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Erbb3 erb-b2 receptor tyrosine kinase 3 ISO OMIM NCBI chr 7:994,549...1,015,876
Ensembl chr 7:996,225...1,015,525
JBrowse link
Visceral Myopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myh11 myosin heavy chain 11 ISO ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 OMIM
ClinVar
PMID:18391202 PMID:31389005 NCBI chr10:743,364...838,459
Ensembl chr10:743,685...838,459
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: VISCERAL MYOPATHY 2 ClinVar PMID:18391202 PMID:31389005 NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869
JBrowse link
X-linked chronic idiopathic intestinal pseudo-obstruction 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: INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, WITH CENTRAL NERVOUS SYSTEM INVOLVEMENT OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052
JBrowse link
X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE
ClinVar Annotator: match by term: Hydrocephalus, X-linked, with hirschsprung disease
ClinVar PMID:9279760 PMID:11857550 PMID:12650797 PMID:15148591 PMID:15368500 More... NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      nervous system disease 12140
        intestinal pseudo-obstruction 23
          African Degenerative Visceral Leiomyopathy 0
          Familial Visceral Myopathy + 9
          Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth 0
          Mungan Syndrome 1
          X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction 1
          X-linked chronic idiopathic intestinal pseudo-obstruction 1
          chronic atrial and intestinal dysrhythmia 1
          colonic pseudo-obstruction 0
          megacystis-microcolon-intestinal hypoperistalsis syndrome + 6
          mitochondrial DNA depletion syndrome 8A 5
          neuronal intestinal dysplasia type A 1
          neuronal intestinal dysplasia type B 0
Path 2
Term Annotations click to browse term
  disease 17256
    disease of anatomical entity 16600
      gastrointestinal system disease 6067
        Gastrointestinal Diseases 4153
          intestinal disease 2453
            intestinal obstruction 109
              ileus 28
                intestinal pseudo-obstruction 23
                  African Degenerative Visceral Leiomyopathy 0
                  Familial Visceral Myopathy + 9
                  Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth 0
                  Mungan Syndrome 1
                  X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction 1
                  X-linked chronic idiopathic intestinal pseudo-obstruction 1
                  chronic atrial and intestinal dysrhythmia 1
                  colonic pseudo-obstruction 0
                  megacystis-microcolon-intestinal hypoperistalsis syndrome + 6
                  mitochondrial DNA depletion syndrome 8A 5
                  neuronal intestinal dysplasia type A 1
                  neuronal intestinal dysplasia type B 0
paths to the root