Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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 atresia
go back to main search page
Accession:DOID:10486 term browser browse the term
Definition:Congenital obliteration of the lumen of the intestine, with the ILEUM involved in 50% of the cases and the JEJUNUM and DUODENUM following in frequency. It is the most frequent cause of INTESTINAL OBSTRUCTION in NEWBORNS. (From Stedman, 25th ed)
Synonyms:exact_synonym: Apple Peel Intestinal Atresia;   Apple Peel Small Bowel Syndrome;   Apple Peel Syndrome;   Apple Peel Syndromes;   Apple-Peel Intestinal Atresias;   Congenital Intestinal Atresia;   Congenital Intestinal Atresias;   Familial Apple Peel Jejunal Atresia;   Jejunal Atresia
 primary_id: MESH:D007409;   RDO:0000998
 xref: ICD10CM:Q41.1;   NCI:C84790
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
intestinal atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISS MouseDO NCBI chr 2:51,673,480...51,747,533
Ensembl chr 2:51,672,722...51,750,369
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISS MouseDO NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
Colonic Atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Colonic atresia ClinVar PMID:30311386 NCBI chr 7:40,217,269...40,306,327
Ensembl chr 7:40,217,269...40,306,327
JBrowse link
G Chd8 chromodomain helicase DNA binding protein 8 ISO ClinVar Annotator: match by term: Colonic atresia ClinVar PMID:30311386 NCBI chr15:28,612,932...28,672,574
Ensembl chr15:28,612,932...28,672,569
JBrowse link
G Cnksr2 connector enhancer of kinase suppressor of Ras 2 ISO ClinVar Annotator: match by term: Colonic atresia ClinVar PMID:30311386 NCBI chr  X:39,711,001...39,953,860
Ensembl chr  X:39,711,201...39,951,847
JBrowse link
G Dst dystonin ISO ClinVar Annotator: match by term: Colonic atresia ClinVar PMID:30311386 NCBI chr 9:37,902,336...38,296,961
Ensembl chr 9:37,902,303...38,196,273
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Colonic atresia ClinVar PMID:25741868 PMID:28259615 PMID:28492532 PMID:30311386 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Slc1a1 solute carrier family 1 member 1 ISO ClinVar Annotator: match by term: Colonic atresia ClinVar PMID:30311386 NCBI chr 1:246,955,017...247,035,159
Ensembl chr 1:246,954,980...247,037,056
JBrowse link
G Spata6l spermatogenesis associated 6-like ISO ClinVar Annotator: match by term: Colonic atresia ClinVar PMID:30311386 NCBI chr 1:247,037,004...247,088,124
Ensembl chr 1:247,046,650...247,088,012
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Colonic atresia ClinVar PMID:30311386 NCBI chr19:46,761,353...47,695,247 JBrowse link
duodenal atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh1a2 aldehyde dehydrogenase 1 family, member A2 severity ISO mRNA:decreased expression:duodenum RGD PMID:23021139, PMID:21492869 RGD:14367881, RGD:14367883 NCBI chr 8:77,640,234...77,719,488
Ensembl chr 8:77,640,222...77,719,489
JBrowse link
G Cftr CF transmembrane conductance regulator ISO ClinVar Annotator: match by term: Duodenal stenosis ClinVar PMID:1370875 PMID:1377276 PMID:1380673 PMID:1381146 PMID:1384321 PMID:1536179 PMID:1673094 PMID:1756602 PMID:1997384 PMID:2210767 PMID:2220803 PMID:2233932 PMID:2236053 PMID:2300168 PMID:2378364 PMID:2475911 PMID:2570460 PMID:7537148 PMID:9135274 PMID:9439669 PMID:10782933 PMID:11280952 PMID:11737931 PMID:12833420 PMID:12940920 PMID:14685937 PMID:15141088 PMID:15221447 PMID:15246977 PMID:15367919 PMID:15371902 PMID:15482777 PMID:15619636 PMID:17206681 PMID:17692578 PMID:18463704 PMID:18507830 PMID:18639722 PMID:19846789 PMID:20595578 PMID:20705837 PMID:21152102 PMID:21602569 PMID:21658649 PMID:21825083 PMID:21976485 PMID:22293084 PMID:22383668 PMID:22942289 PMID:22981120 PMID:22992668 PMID:23457292 PMID:23891399 PMID:23951356 PMID:23974870 PMID:24033266 PMID:24559724 PMID:24973281 PMID:25148434 PMID:25741868 PMID:25741869 PMID:25981758 PMID:26467025 PMID:26618866 PMID:26631874 PMID:26968770 PMID:27214033 PMID:27298017 PMID:27334259 PMID:27805836 PMID:27898234 PMID:28129809 PMID:28129811 PMID:28325531 PMID:28492532 PMID:28603918 PMID:28606620 PMID:29099333 PMID:29126871 PMID:29327948 PMID:29451946 PMID:30311386 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO RGD PMID:15185216 RGD:12801491 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Duodenal atresia ClinVar NCBI chr 4:170,659,993...170,740,274
Ensembl chr 4:170,659,998...170,740,274
JBrowse link
G LOC500354 similar to C030030A07Rik protein ISO ClinVar Annotator: match by term: Duodenal atresia ClinVar NCBI chr 4:170,807,633...170,822,514
Ensembl chr 4:170,820,594...170,821,995
JBrowse link
Mitchell-Riley Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rfx6 regulatory factor X, 6 ISO ClinVar Annotator: match by OMIM:615710
ClinVar Annotator: match by term: Mitchell-Riley syndrome
OMIM
ClinVar
PMID:15592663 PMID:18414213 PMID:18512226 PMID:19887127 PMID:20148032 PMID:25741868 PMID:26264437 PMID:27523286 PMID:28492532 NCBI chr20:32,709,282...32,764,040
Ensembl chr20:32,717,564...32,764,035
JBrowse link
multiple intestinal atresia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: INTESTINAL ATRESIA, MULTIPLE AND/OR INFLAMMATORY BOWEL DISEASE WITH OR WITHOUT IMMUNODEFICIENCY
ClinVar Annotator: match by term: Multiple gastrointestinal atresias
ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:10,887,303...10,899,221
Ensembl chr 6:10,887,288...10,899,200
JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Multiple gastrointestinal atresias
ClinVar Annotator: match by term: INTESTINAL ATRESIA, MULTIPLE AND/OR INFLAMMATORY BOWEL DISEASE WITH OR WITHOUT IMMUNODEFICIENCY
ClinVar Annotator: match by OMIM:243150
OMIM
ClinVar
PMID:23423984 PMID:23830146 PMID:24292712 PMID:24417819 PMID:25174867 PMID:25326635 PMID:25534311 PMID:25587526 PMID:25741868 PMID:26938784 PMID:28492532 PMID:29174094 NCBI chr 6:10,912,383...11,014,279
Ensembl chr 6:10,912,383...11,014,278
JBrowse link
Stromme syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cenpf centromere protein F ISO ClinVar Annotator: match by term: Ciliary dyskinesia, primary, 31
ClinVar Annotator: match by term: Stromme syndrome
ClinVar Annotator: match by OMIM:243605
ClinVar
OMIM
PMID:8261651 PMID:25564561 PMID:25741868 PMID:26820108 PMID:28407396 NCBI chr13:108,132,499...108,178,609
Ensembl chr13:108,132,499...108,178,609
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      gastrointestinal system disease 4633
        Digestive System Abnormalities 392
          intestinal atresia 18
            Atresia of Small Intestine 0
            Colonic Atresia 8
            Coronal Synostosis, Syndactyly and Jejunal Atresia 0
            Duodenojejunal Atresia with Volvulus, Absent Dorsal Mesentery and Absent Superior Mesenteric Artery 0
            Jejunal Atresia with Renal Adysplasia 0
            Martinez-Frias Syndrome 0
            Mitchell-Riley Syndrome 1
            Pfeiffer Rockelein Syndrome 0
            Stromme syndrome 1
            Umbilical Cord Ulceration and Intestinal Atresia 0
            duodenal atresia 5
            multiple intestinal atresia 2
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      gastrointestinal system disease 4633
        Gastrointestinal Diseases 2554
          intestinal disease 1515
            intestinal atresia 18
              Atresia of Small Intestine 0
              Colonic Atresia 8
              Coronal Synostosis, Syndactyly and Jejunal Atresia 0
              Duodenojejunal Atresia with Volvulus, Absent Dorsal Mesentery and Absent Superior Mesenteric Artery 0
              Jejunal Atresia with Renal Adysplasia 0
              Martinez-Frias Syndrome 0
              Mitchell-Riley Syndrome 1
              Pfeiffer Rockelein Syndrome 0
              Stromme syndrome 1
              Umbilical Cord Ulceration and Intestinal Atresia 0
              duodenal atresia 5
              multiple intestinal atresia 2
paths to the root