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ileus - Ontology Report - Rat Genome Database

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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:ileus
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Accession:DOID:8440 term browser browse the term
Definition:A condition caused by the lack of intestinal PERISTALSIS or INTESTINAL MOTILITY without any mechanical obstruction. This interference of the flow of INTESTINAL CONTENTS often leads to INTESTINAL OBSTRUCTION. Ileus may be classified into postoperative, inflammatory, metabolic, neurogenic, and drug-induced.
Synonyms:exact_synonym: ileus of intestine
 primary_id: MESH:D045823
 xref: NCI:C37979
For additional species annotation, visit the Alliance of Genome Resources.

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ileus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HMOX1 heme oxygenase 1 treatment ISO associated with Sepsis RGD PMID:22921918 RGD:10755726 NCBI chr22:35,381,096...35,394,207
Ensembl chr22:35,380,361...35,394,214 		JBrowse link
G KIT KIT proto-oncogene, receptor tyrosine kinase treatment ISO RGD PMID:30852906 RGD:151893492 NCBI chr 4:54,657,957...54,740,715
Ensembl chr 4:54,657,267...54,740,783 		JBrowse link
G MIR222 microRNA 222 treatment ISO RGD PMID:30852906 RGD:151893492 NCBI chr  X:45,747,015...45,747,124
Ensembl chr  X:45,747,015...45,747,124 		JBrowse link
G MMP9 matrix metallopeptidase 9 ISO mRNA, protein:increased expression:jejunum, colon, peritoneal fluid RGD PMID:23079570 RGD:8547906 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561 		JBrowse link
G NOS3 nitric oxide synthase 3 treatment ISO RGD PMID:30852906 RGD:151893492 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588 		JBrowse link
autosomal dominant familial visceral neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG2 actin gamma 2, smooth muscle IAGP 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 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865 		JBrowse link
G DLGAP4-AS1 DLGAP4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:21293372 PMID:25741868 PMID:29453416 PMID:33031641 NCBI chr20:36,507,702...36,573,275
Ensembl chr20:36,507,702...36,573,410 		JBrowse link
G LMOD1 leiomodin 1 IAGP ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:28292896 NCBI chr 1:201,896,456...201,946,548
Ensembl chr 1:201,896,456...201,946,548 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:25407000 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G MYL9 myosin light chain 9 IAGP ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:21293372 PMID:25741868 PMID:29453416 PMID:33031641 NCBI chr20:36,541,519...36,551,447
Ensembl chr20:36,541,497...36,551,447 		JBrowse link
G MYLK myosin light chain kinase IAGP ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:28602422 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
chronic atrial and intestinal dysrhythmia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SGO1 shugoshin 1 IAGP ClinVar Annotator: match by term: SGO1-related condition
ClinVar Annotator: match by term: Chronic atrial and intestinal dysrhythmia		 OMIM
ClinVar		 PMID:25282101 PMID:25741868 PMID:28492532 NCBI chr 3:20,160,593...20,186,886
Ensembl chr 3:20,160,593...20,186,206 		JBrowse link
G SGO1-AS1 SGO1 antisense RNA 1 IAGP ClinVar Annotator: match by term: SGO1-related condition
ClinVar Annotator: match by term: Chronic atrial and intestinal dysrhythmia		 ClinVar PMID:25282101 PMID:25741868 PMID:28492532 NCBI chr 3:20,174,286...20,186,115
Ensembl chr 3:20,174,244...21,168,896 		JBrowse link
Familial Visceral Myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG2 actin gamma 2, smooth muscle EXP CTD Direct Evidence: marker/mechanism CTD PMID:22960657 NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865 		JBrowse link
intestinal pseudo-obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG2 actin gamma 2, smooth muscle IAGP ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction
ClinVar Annotator: match by term: Visceral myopathy
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 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865 		JBrowse link
G CLMP CXADR like membrane protein IAGP
EXP		 ClinVar Annotator: match by term: Intestinal pseudo-obstruction
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:18209785 PMID:22155368 PMID:25741868 PMID:27352967 PMID:28708303 NCBI chr11:123,069,872...123,195,248
Ensembl chr11:123,069,872...123,195,291 		JBrowse link
G DLGAP4-AS1 DLGAP4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Visceral myopathy ClinVar PMID:21293372 PMID:25741868 PMID:29453416 PMID:33031641 NCBI chr20:36,507,702...36,573,275
Ensembl chr20:36,507,702...36,573,410 		JBrowse link
G ERBB3 erb-b2 receptor tyrosine kinase 3 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
G LMOD1 leiomodin 1 IAGP ClinVar Annotator: match by term: Visceral myopathy ClinVar PMID:28292896 NCBI chr 1:201,896,456...201,946,548
Ensembl chr 1:201,896,456...201,946,548 		JBrowse link
G LOC112042785 Sharpr-MPRA regulatory region 9139 IAGP ClinVar Annotator: match by term: Intestinal pseudo-obstruction ClinVar PMID:25741868 PMID:27352967 NCBI chr11:123,083,621...123,083,915 JBrowse link
G MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Visceral myopathy
ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction		 ClinVar PMID:18391202 PMID:25407000 PMID:25741868 PMID:28492532 PMID:31389005 More... NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G MYL9 myosin light chain 9 IAGP ClinVar Annotator: match by term: Visceral myopathy ClinVar PMID:21293372 PMID:25741868 PMID:29453416 PMID:33031641 NCBI chr20:36,541,519...36,551,447
Ensembl chr20:36,541,497...36,551,447 		JBrowse link
G MYLK myosin light chain kinase IAGP ClinVar Annotator: match by term: Visceral myopathy ClinVar PMID:28602422 NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction ClinVar PMID:18391202 PMID:25741868 PMID:28492532 PMID:31389005 PMID:31536524 More... NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
G NUP35 nucleoporin 35 ISS MouseDO NCBI chr 2:183,117,514...183,161,680
Ensembl chr 2:183,117,513...183,161,680 		JBrowse link
G PTEN phosphatase and tensin homolog ISS MouseDO NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO RGD PMID:24177421 RGD:8547979 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISS OMIM:243180 | OMIM:601223 MouseDO NCBI chr13:80,335,976...80,341,126
Ensembl chr13:80,335,976...80,341,126 		JBrowse link
G TFAP2B transcription factor AP-2 beta IAGP ClinVar Annotator: match by term: Chronic intestinal pseudoobstruction ClinVar PMID:25741868 NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619 		JBrowse link
G TLX2 T cell leukemia homeobox 2 ISS OMIM:243180 | OMIM:601223 MouseDO NCBI chr 2:74,514,450...74,517,148
Ensembl chr 2:74,513,463...74,517,148 		JBrowse link
Meconium Ileus term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C12orf60 chromosome 12 open reading frame 60 IAGP ClinVar Annotator: match by term: Meconium ileus ClinVar PMID:22521417 PMID:25370039 NCBI chr12:14,803,670...14,824,415
Ensembl chr12:14,803,666...14,906,586 		JBrowse link
G GUCY2C guanylate cyclase 2C IAGP ClinVar Annotator: match by term: Meconium ileus
ClinVar Annotator: match by term: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | ClinVar Annotator: match by term: Meconium ileus		 ClinVar
OMIM		 PMID:4006357 PMID:22521417 PMID:24033266 PMID:25370039 PMID:25741868 More... NCBI chr12:14,612,632...14,696,599
Ensembl chr12:14,612,632...14,696,599 		JBrowse link
G GUCY2C-AS1 GUCY2C antisense RNA 1 IAGP ClinVar Annotator: match by term: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
ClinVar Annotator: match by term: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency | ClinVar Annotator: match by term: Meconium ileus		 ClinVar PMID:4006357 PMID:22521417 PMID:24033266 PMID:25741868 PMID:28492532 More... NCBI chr12:14,665,636...14,736,219 JBrowse link
G HFE homeostatic iron regulator IAGP associated with cystic fibrosis;DNA:missense mutation: :p.H63D (human) RGD PMID:30291871 RGD:14701045 NCBI chr 6:26,087,429...26,098,343
Ensembl chr 6:26,087,226...26,098,343 		JBrowse link
G PLBD1-AS1 PLBD1 antisense RNA 1 IAGP ClinVar Annotator: match by term: Meconium ileus
ClinVar Annotator: match by term: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency		 ClinVar PMID:25370039 PMID:25741868 PMID:28492532 NCBI chr12:14,567,732...14,619,755
Ensembl chr12:14,567,393...14,624,191 		JBrowse link
megacystis-microcolon-intestinal hypoperistalsis syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG2 actin gamma 2, smooth muscle IAGP
ISS
EXP		 ClinVar Annotator: match by term: Infantile visceral myopathy | ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal
OMIM:155310
ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:11474115 PMID:21681106 PMID:22960657 PMID:23806086 PMID:24088041 More... NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865 		JBrowse link
G CHRM3 cholinergic receptor muscarinic 3 ISS OMIM:155310 MouseDO NCBI chr 1:239,386,568...239,915,450
Ensembl chr 1:239,386,565...239,915,452 		JBrowse link
G DLGAP4-AS1 DLGAP4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:21293372 PMID:25741868 PMID:29453416 PMID:33031641 NCBI chr20:36,507,702...36,573,275
Ensembl chr20:36,507,702...36,573,410 		JBrowse link
G LMOD1 leiomodin 1 IAGP ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:28292896 NCBI chr 1:201,896,456...201,946,548
Ensembl chr 1:201,896,456...201,946,548 		JBrowse link
G MYH11 myosin heavy chain 11 IAGP ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal
ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome		 ClinVar PMID:25407000 PMID:25741868 NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G MYL9 myosin light chain 9 IAGP ClinVar Annotator: match by term: Pseudoobstruction idiopathic intestinal ClinVar PMID:21293372 PMID:25741868 PMID:29453416 PMID:33031641 NCBI chr20:36,541,519...36,551,447
Ensembl chr20:36,541,497...36,551,447 		JBrowse link
G MYLK myosin light chain kinase IAGP 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 chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126806791 MED14-independent group 3 enhancer GRCh37_chr3:123347871-123349070 IAGP ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ClinVar PMID:24033266 PMID:25741868 PMID:26017485 PMID:28492532 NCBI chr 3:123,629,024...123,630,223 JBrowse link
G LOC126806792 CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:123511339-123512538 IAGP ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:123,792,492...123,793,691 JBrowse link
G MYLK myosin light chain kinase IAGP 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 chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332 		JBrowse link
G MYLK-AS1 MYLK antisense RNA 1 IAGP ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 1 ClinVar PMID:24033266 PMID:25741868 PMID:26017485 PMID:28492532 NCBI chr 3:123,585,513...123,630,821
Ensembl chr 3:123,585,143...123,644,568 		JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH11 myosin heavy chain 11 IAGP 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 chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 2 ClinVar PMID:9536098 PMID:17576681 PMID:22001912 PMID:24033266 PMID:25741868 More... NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMOD1 leiomodin 1 IAGP ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 3 OMIM
ClinVar		 PMID:25741868 PMID:28292896 NCBI chr 1:201,896,456...201,946,548
Ensembl chr 1:201,896,456...201,946,548 		JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLGAP4-AS1 DLGAP4 antisense RNA 1 IAGP ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 ClinVar PMID:21293372 PMID:25741868 PMID:33031641 NCBI chr20:36,507,702...36,573,275
Ensembl chr20:36,507,702...36,573,410 		JBrowse link
G MYL9 myosin light chain 9 IAGP ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 4 ClinVar
OMIM		 PMID:21293372 PMID:25741868 PMID:33031641 NCBI chr20:36,541,519...36,551,447
Ensembl chr20:36,541,497...36,551,447 		JBrowse link
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTG2 actin gamma 2, smooth muscle IAGP ClinVar Annotator: match by term: ACTG2-related condition
ClinVar Annotator: match by term: Megacystis-microcolon-intestinal hypoperistalsis syndrome 5		 OMIM
ClinVar		 PMID:11474115 PMID:22960657 PMID:23806086 PMID:24088041 PMID:24337657 More... NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865 		JBrowse link
mitochondrial DNA depletion syndrome 8A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FANCI FA complementation group I IAGP ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:15477547 PMID:15689359 PMID:16177225 PMID:16621917 PMID:17088268 More... NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G LOC130000896 ATAC-STARR-seq lymphoblastoid active region 27747 IAGP ClinVar Annotator: match by term: RRM2B-related mitochondrial disease
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a		 ClinVar PMID:9536098 PMID:17576681 PMID:21378381 PMID:23107649 PMID:24741716 More... NCBI chr 8:102,238,785...102,238,884 JBrowse link
G LOC130000897 ATAC-STARR-seq lymphoblastoid silent region 19436 IAGP ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a ClinVar PMID:25741868 NCBI chr 8:102,238,955...102,239,384 JBrowse link
G LOC130067861 ATAC-STARR-seq lymphoblastoid silent region 13985 IAGP ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:25741868 NCBI chr22:50,525,270...50,525,569 JBrowse link
G LOC130067862 ATAC-STARR-seq lymphoblastoid silent region 13986 IAGP 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 neurogastrointestinal encephalopathy syndrome		 ClinVar PMID:2005900 PMID:9536098 PMID:9924029 PMID:10852545 PMID:12529715 More... NCBI chr22:50,525,780...50,526,609 JBrowse link
G LOC130067864 ATAC-STARR-seq lymphoblastoid active region 19325 IAGP ClinVar Annotator: match by term: Thymidine phosphorylase deficiency
ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION		 ClinVar PMID:9924029 PMID:14720311 PMID:14757860 PMID:15781193 PMID:16199547 More... NCBI chr22:50,529,260...50,529,419 JBrowse link
G MT-TW mitochondrially encoded tRNA-Trp (UGA/G) IAGP ClinVar Annotator: match by term: Neurogastrointestinal syndrome, mitochondrial ClinVar PMID:15054399 NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579 		JBrowse link
G NCAPH2 non-SMC condensin II complex subunit H2 IAGP ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION ClinVar PMID:23643385 PMID:25741868 PMID:28492532 NCBI chr22:50,508,224...50,524,780
Ensembl chr22:50,508,224...50,524,780 		JBrowse link
G POLG DNA polymerase gamma, catalytic subunit IAGP ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
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 PMID:1539879 PMID:7847370 PMID:11431686 PMID:11555352 PMID:12210792 More... NCBI chr15:89,316,320...89,334,824
Ensembl chr15:89,305,198...89,334,861 		JBrowse link
G POLGARF POLG alternative reading frame IAGP ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
ClinVar Annotator: match by term: Thymidine phosphorylase deficiency		 ClinVar PMID:17950645 PMID:18487244 PMID:18546365 PMID:19103152 PMID:19251978 More... NCBI chr15:89,330,208...89,333,809
Ensembl chr15:89,330,208...89,333,809 		JBrowse link
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP 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 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: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION | ClinVar Annotator: match by term: RRM2B-related mitochondrial disease
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 8a | ClinVar Annotator: match by term: Thymidine phosphorylase deficiency		 ClinVar
OMIM		 PMID:8130196 PMID:9536098 PMID:12859174 PMID:16199547 PMID:17486094 More... NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G SCO2 synthesis of cytochrome C oxidase 2 IAGP ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
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:9536098 PMID:9924029 PMID:10852545 PMID:12529715 More... NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461 		JBrowse link
G TYMP thymidine phosphorylase IAGP ClinVar Annotator: match by term: POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
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 chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		JBrowse link
mitochondrial DNA depletion syndrome 8b term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RRM2B ribonucleotide reductase regulatory TP53 inducible subunit M2B IAGP
EXP		 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:22176657 PMID:23307888 PMID:24741716 More... NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961 		JBrowse link
G TYMP thymidine phosphorylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16972839 PMID:22977166 NCBI chr22:50,525,752...50,530,085
Ensembl chr22:50,525,752...50,530,032 		JBrowse link
Mungan Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RAD21 RAD21 cohesin complex component IAGP
EXP		 ClinVar Annotator: match by term: Mungan syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:14638363 PMID:18414213 PMID:25575569 PMID:25741868 PMID:28492532 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
neuronal intestinal dysplasia type A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERBB3 erb-b2 receptor tyrosine kinase 3 IAGP ClinVar Annotator: match by term: Visceral neuropathy, familial, 1, autosomal recessive ClinVar
OMIM		 PMID:25741868 PMID:33497358 NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505 		JBrowse link
Visceral Myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYH11 myosin heavy chain 11 IAGP 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 chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438 		JBrowse link
G NDE1 nudE neurodevelopment protein 1 IAGP ClinVar Annotator: match by term: Visceral myopathy 2
ClinVar Annotator: match by term: VISCERAL MYOPATHY 2
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 chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691 		JBrowse link
X-linked chronic idiopathic intestinal pseudo-obstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLNA filamin A IAGP
EXP		 ClinVar Annotator: match by term: CIIP X-linked
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked		 OMIM
ClinVar
CTD		 PMID:9071288 PMID:10982489 PMID:12612583 PMID:15523633 PMID:15917206 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: CIIP X-linked ClinVar PMID:25741868 PMID:28492532 PMID:37175682 NCBI chr  X:154,335,912...154,349,572 JBrowse link
X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1CAM L1 cell adhesion molecule IAGP ClinVar Annotator: match by term: Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction ClinVar PMID:12650797 PMID:15368500 NCBI chr  X:153,861,514...153,886,173
Ensembl chr  X:153,861,514...153,886,173 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 147117
    disease of anatomical entity 134156
      gastrointestinal system disease 21128
        intestinal disease 8735
          intestinal obstruction 308
            ileus 70
              Meconium Ileus 26
              intestinal pseudo-obstruction + 39
              paralytic ileus 0
paths to the root