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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: Chronic intestinal pseudoobstruction;   Idiopathic Intestinal Pseudo-Obstruction;   Intestinal Pseudoobstruction;   Intestinal Pseudoobstructions;   Intestinal pseudoobstruction due to neuronal disease;   Neuronal Intestinal Pseudoobstruction;   chronic idiopathic intestinal pseudo-obstruction;   chronic intestinal pseudo-obstruction;   deficiency of argyrophil myenteric plexus;   enteric neuropathy;   familial visceral neuropathy, autosomal recessive;   idiopathic intestinal pseudo-obstructions;   intestinal pseudo-obstructions;   intestine pseudoobstruction;   neuronal intestinal dysplasia;   pseudo-obstruction of intestine;   pseudointestinal obstruction syndrome;   pseudoobstruction, chronic idiopathic intestinal, neuronal type;   pseudoobstructive syndrome;   visceral myopathies;   visceral myopathy
 primary_id: MESH:D007418
 alt_id: DOID:3878;   MESH:C537394
 xref: EFO:1000988;   GARD:12744;   GARD:6789;   NCI:C192634;   NCI:C34733;   ORDO:2978


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: Chronic intestinal pseudoobstruction | ClinVar Annotator: match by term: Intestinal pseudo-obstruction | ClinVar Annotator: match by term: Visceral myopathy 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intestinal pseudo-obstruction		 CTD
ClinVar		 PMID:18209785 PMID:22155368 PMID:25741868 PMID:27352967 PMID:28708303 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 CTD 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: Chronic intestinal pseudoobstruction | ClinVar Annotator: match by term: Visceral myopathy ClinVar PMID:25407000 PMID:25741868 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:25741868 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 1:230,630,443...230,697,070
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 chr15:82,692,291...82,697,408
Ensembl chr15:82,692,143...82,698,009 		JBrowse link
G Tfap2b transcription factor AP-2 beta ISO ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction ClinVar PMID:25741868 NCBI chr 9:21,786,251...21,816,054
Ensembl chr 9:21,786,258...21,814,520 		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: Pseudoobstruction idiopathic intestinal | ClinVar Annotator: match by term: Visceral neuropathy, familial, autosomal dominant 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 Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal 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: Pseudoobstruction idiopathic intestinal ClinVar PMID:25407000 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: Pseudoobstruction idiopathic intestinal 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: Pseudoobstruction idiopathic intestinal ClinVar PMID:28602422 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		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 term: Chronic atrial and intestinal dysrhythmia OMIM
ClinVar		 PMID:25282101 PMID:25741868 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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:155310
ClinVar Annotator: match by term: Infantile visceral myopathy | ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal		 CTD
MouseDO
ClinVar
OMIM		 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 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
G Lmod1 leiomodin 1 ISO ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal 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: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:25407000 PMID:25741868 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: Pseudoobstruction idiopathic intestinal 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: Megacystis-microcolon-intestinal hypoperistalsis syndrome | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:24033266 PMID:25333361 PMID:25741868 PMID:28492532 PMID:28602422 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		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 ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 OMIM
ClinVar		 PMID:9536098 PMID:11029314 PMID:16399953 PMID:17576681 PMID:21055718 More... 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:9536098 PMID:16199547 PMID:17576681 PMID:17666408 PMID:21521776 More... 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: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 ClinVar PMID:9536098 PMID:17576681 PMID:22001912 PMID:24033266 PMID:25741868 More... NCBI chr10:839,788...883,946
Ensembl chr10:839,788...883,869 		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:25741868 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:15689359 PMID:16177225 PMID:16621917 PMID:17088268 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 Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
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 DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency		 ClinVar PMID:632821 PMID:1539879 PMID:7847370 PMID:11431686 PMID:11555352 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: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease
ClinVar Annotator: match by term: MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC, WITH RENAL TUBULOPATHY, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Renal Tubulopathy | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease		 OMIM
ClinVar		 PMID:8130196 PMID:9536098 PMID:12859174 PMID:16199547 PMID:17486094 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: Mitochondrial neurogastrointestinal encephalopathy syndrome | ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency ClinVar PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12529715 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:19125351 PMID:19667227 PMID:24741716 PMID:25741868 PMID:28492532 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 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mungan syndrome		 OMIM
CTD
ClinVar		 PMID:14638363 PMID:18414213 PMID:25575569 PMID:25741868 PMID:28492532 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 ClinVar Annotator: match by term: Visceral neuropathy, familial, 1, autosomal recessive ClinVar
OMIM		 PMID:25741868 PMID:33497358 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 | ClinVar Annotator: match by term: Visceral myopathy 2 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:17666408 PMID:18391202 More... 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 Annotator: match by term: Visceral myopathy 2 ClinVar PMID:9536098 PMID:17576681 PMID:18391202 PMID:22001912 PMID:24033266 More... 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: CIIP X-linked | ClinVar Annotator: match by term: Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10982489 PMID:12612583 PMID:16417552 PMID:16822260 PMID:18414213 More... 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 term: Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction ClinVar PMID:12650797 PMID:15368500 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 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        intestinal pseudo-obstruction 24
          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 + 7
          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 19099
    disease of anatomical entity 18440
      gastrointestinal system disease 7177
        intestinal disease 3104
          intestinal obstruction 220
            ileus 32
              intestinal pseudo-obstruction 24
                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 + 7
                mitochondrial DNA depletion syndrome 8A 5
                neuronal intestinal dysplasia type A 1
                neuronal intestinal dysplasia type B 0
paths to the root