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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:intestinal pseudo-obstruction
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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: CSBS;   Chronic Idiopathic Intestinal Pseudo-Obstruction;   Chronic intestinal pseudo-obstruction;   Chronic intestinal pseudoobstruction;   Congenital Short Bowel Syndrome;   Enteric Neuropathy;   Idiopathic Intestinal Pseudo-Obstruction;   Intestinal Pseudo-Obstructions;   Intestinal Pseudoobstruction;   Intestinal Pseudoobstructions;   Intestinal pseudoobstruction due to neuronal disease;   Neuronal Intestinal Pseudoobstruction;   Pseudo-obstruction of intestine;   Pseudointestinal Obstruction Syndrome;   Pseudoobstruction, chronic idiopathic intestinal, neuronal type;   Pseudoobstructive Syndrome;   deficiency of argyrophil myenteric plexus;   familial visceral neuropathy, autosomal recessive;   idiopathic intestinal pseudo-obstructions;   intestine pseudoobstruction;   neuronal intestinal dysplasia;   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:19098683, PMID:21681106, PMID:22960657, PMID:23806086, PMID:24088041, PMID:24337657, PMID:24676022, PMID:24777424, PMID:25326635, PMID:25741868, PMID:25782675, PMID:25998219, PMID:26072522, PMID:26669664, PMID:26813947, PMID:26938784, PMID:28383543, PMID:28422808 NCBI chr 4:115,215,160...115,239,746
Ensembl chr 4:115,215,060...115,239,723
JBrowse link
G Clmp CXADR-like membrane protein ISO ClinVar Annotator: match by term: Congenital short bowel syndrome ClinVar
OMIM
PMID:16707984, PMID:18209785, PMID:22155368, PMID:25741868, PMID:27352967, PMID:28708303 NCBI chr 8:44,846,685...44,975,460
Ensembl chr 8:44,847,157...44,975,457
JBrowse link
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: Visceral myopathy ClinVar PMID:28292896 NCBI chr13:52,147,099...52,189,835
Ensembl chr13:52,147,555...52,190,228
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 NCBI chr10:764,421...859,184
Ensembl chr10:764,421...859,184
JBrowse link
G Myl9 myosin light chain 9 ISO ClinVar Annotator: match by term: Visceral myopathy ClinVar PMID:25741868, PMID:29453416 NCBI chr 3:152,857,573...152,863,961
Ensembl chr 3:152,857,592...152,863,960
JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Visceral myopathy ClinVar PMID:28602422 NCBI chr11:69,013,060...69,260,039
Ensembl chr11:69,013,050...69,223,158
JBrowse link
G Nde1 nudE neurodevelopment protein 1 ISO ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction ClinVar NCBI chr10:860,513...904,624
Ensembl chr10:860,521...896,938
JBrowse link
G Nup35 nucleoporin 35 ISS MouseDO NCBI chr 3:67,866,784...67,896,828
Ensembl chr 3:67,870,111...67,896,153
JBrowse link
G Pten phosphatase and tensin homolog ISS MouseDO NCBI chr 1:251,421,814...251,487,634
Ensembl chr 1:251,421,596...251,487,832
JBrowse link
G Rb1 RB transcriptional corepressor 1 ISO RGD PMID:24177421 RGD:8547979 NCBI chr15:55,081,582...55,209,060
Ensembl chr15:55,083,140...55,209,342
JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISS OMIM:243180 | OMIM:601223 MouseDO NCBI chr15:90,172,769...90,177,823
Ensembl chr15:90,172,975...90,175,802
JBrowse link
G Tlx2 T-cell leukemia homeobox 2 ISS OMIM:243180 | OMIM:601223 MouseDO NCBI chr 4:114,766,401...114,768,243
Ensembl chr 4:114,766,714...114,768,029
Ensembl chr 4:114,766,714...114,768,029
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, PMID:25741868, PMID:25998219, PMID:26072522, PMID:26813947, PMID:28422808 NCBI chr 4:115,215,160...115,239,746
Ensembl chr 4:115,215,060...115,239,723
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 9:4,420,158...4,435,939
Ensembl chr 9:4,421,069...4,436,601
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 4:115,215,160...115,239,746
Ensembl chr 4:115,215,060...115,239,723
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 4:115,215,160...115,239,746
Ensembl chr 4:115,215,060...115,239,723
JBrowse link
G Chrm3 cholinergic receptor, muscarinic 3 ISS OMIM:155310 MouseDO NCBI chr17:63,990,599...64,463,222
Ensembl chr17:63,990,599...63,994,169
JBrowse link
G Lmod1 leiomodin 1 ISO OMIM NCBI chr13:52,147,099...52,189,835
Ensembl chr13:52,147,555...52,190,228
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, PMID:17950645, PMID:17980715, PMID:18991199, PMID:19010300, PMID:20691285, PMID:21038416, PMID:21228398, PMID:23524600, PMID:23783014, PMID:24033266, PMID:25462018, PMID:25741868, PMID:26104464, PMID:26467025, PMID:27987238, PMID:28492532 NCBI chr 1:141,116,565...141,172,997
Ensembl chr 1:141,120,166...141,172,483
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 7:130,326,597...130,343,655
Ensembl chr 7:130,326,600...130,342,493
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, PMID:12565911, PMID:12707443, PMID:12825077, PMID:12872260, PMID:14635118, PMID:14694057, PMID:15122711, PMID:15181170, PMID:15349879, PMID:15351195, PMID:15477547, PMID:15689359, PMID:15824347, PMID:15917273, PMID:15929042, PMID:16024923, PMID:16130100, PMID:16177225, PMID:16368709, PMID:16401742, PMID:16621917, PMID:16638794, PMID:17088268, PMID:17426723, PMID:17438011, PMID:17846414, PMID:17950645, PMID:17980715, PMID:18414213, PMID:18487244, PMID:18500570, PMID:18546343, PMID:18546365, PMID:18783964, PMID:18828154, PMID:18991199, PMID:19010300, PMID:19103152, PMID:19189930, PMID:19251978, PMID:19307547, PMID:19478085, PMID:19501198, PMID:19538466, PMID:19578034, PMID:19752458, PMID:19766516, PMID:19813183, PMID:19862739, PMID:20138553, PMID:20142534, PMID:20301791, PMID:20385918, PMID:20434700, PMID:20513108, PMID:20576279, PMID:20691285, PMID:20818383, PMID:20837861, PMID:21038416, PMID:21138766, PMID:21228000, PMID:21228398, PMID:21235791, PMID:21259344, PMID:21276947, PMID:21357833, PMID:21515089, PMID:21647632, PMID:21654874, PMID:21670405, PMID:21686371, PMID:21880868, PMID:21993618, PMID:22006280, PMID:22189570, PMID:22342071, PMID:22494076, PMID:22616202, PMID:22647225, PMID:22711370, PMID:22863191, PMID:22931735, PMID:22995991, PMID:23084792, PMID:23212759, PMID:23250882, PMID:23251356, PMID:23299917, PMID:23324391, PMID:23426270, PMID:23430834, PMID:23448099, PMID:23524600, PMID:23665194, PMID:23783014, PMID:23804100, PMID:23811324, PMID:24033266, PMID:24122062, PMID:24259288, PMID:24272679, PMID:24331360, PMID:24508722, PMID:24725338, PMID:25118206, PMID:25286830, PMID:25462018, PMID:25585994, PMID:25660390, PMID:25741868, PMID:25940035, PMID:26104464, PMID:26337858, PMID:26467025, PMID:26468652, PMID:26735972, PMID:26942291, PMID:26942292, PMID:27119776, PMID:27538604, PMID:27987238, PMID:28130605, PMID:28154168, PMID:28284481, PMID:28337550, PMID:28492532, PMID:28771251, PMID:28776642, PMID:28812649, PMID:29029963, PMID:29341116, PMID:29474836, PMID:29482223, PMID:29588995, PMID:30255931, PMID:30290626, PMID:30311386, PMID:30373890 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
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 term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE
ClinVar Annotator: match by OMIM:612075
ClinVar
OMIM
PMID:17486094, PMID:19138848, PMID:19664747, PMID:19667227, PMID:21378381, PMID:21646632, PMID:21951382, PMID:25326635, PMID:25326637, PMID:25741868, PMID:26467025, PMID:28492532, PMID:28812649, PMID:32313153 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
JBrowse link
G Tymp thymidine phosphorylase ISO ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: Mitochondrial neurogastrointestinal encephalopathy syndrome
ClinVar PMID:2005900, PMID:10852545, PMID:12529715, PMID:23643385, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
JBrowse link
mitochondrial DNA depletion syndrome 8b term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Oculogastrointestinal muscular dystrophy ClinVar PMID:25741868 NCBI chr 1:141,172,117...141,188,893
Ensembl chr 1:141,172,531...141,188,031
JBrowse link
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
ClinVar
CTD
OMIM
PMID:19667227 NCBI chr 7:76,750,045...76,780,817
Ensembl chr 7:76,750,050...76,780,817
JBrowse link
G Tymp thymidine phosphorylase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculogastrointestinal muscular dystrophy
CTD
ClinVar
PMID:10852545, PMID:12529715, PMID:16972839, PMID:22977166, PMID:24033266, PMID:30311386 NCBI chr 7:130,342,481...130,347,845
Ensembl chr 7:130,342,483...130,347,587
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 7:91,511,755...91,538,673
Ensembl chr 7:91,511,756...91,538,673
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:156,460,785...156,487,245
Ensembl chr  X:156,463,953...156,487,245
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, PMID:28492532 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        intestinal pseudo-obstruction 22
          Familial Visceral Myopathy + 6
          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
          autosomal dominant familial visceral neuropathy 1
          chronic atrial and intestinal dysrhythmia 1
          colonic pseudo-obstruction 0
          megacystis-microcolon-intestinal hypoperistalsis syndrome 3
          mitochondrial DNA depletion syndrome 8A 5
          neuronal intestinal dysplasia type A 0
          neuronal intestinal dysplasia type B 0
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      gastrointestinal system disease 4621
        Gastrointestinal Diseases 2541
          intestinal disease 1503
            intestinal obstruction 38
              ileus 27
                intestinal pseudo-obstruction 22
                  Familial Visceral Myopathy + 6
                  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
                  autosomal dominant familial visceral neuropathy 1
                  chronic atrial and intestinal dysrhythmia 1
                  colonic pseudo-obstruction 0
                  megacystis-microcolon-intestinal hypoperistalsis syndrome 3
                  mitochondrial DNA depletion syndrome 8A 5
                  neuronal intestinal dysplasia type A 0
                  neuronal intestinal dysplasia type B 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.