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 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 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISS MouseDO NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
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 8:71,877,850...71,957,107
Ensembl chr 8:71,877,850...71,957,107
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 More... NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO RGD PMID:15185216 RGD:12801491 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626
JBrowse link
G Gucy2c guanylate cyclase 2C ISO ClinVar Annotator: match by term: Duodenal atresia ClinVar NCBI chr 4:169,568,505...169,649,092
Ensembl chr 4:169,568,529...169,649,092
JBrowse link
G LOC500354 similar to C030030A07Rik protein ISO ClinVar Annotator: match by term: Duodenal atresia ClinVar NCBI chr 4:169,716,821...169,731,532
Ensembl chr 4:169,716,030...169,734,237
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 More... NCBI chr20:31,020,221...31,073,266
Ensembl chr20:31,019,829...31,073,147
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:23830146 PMID:24292712 PMID:25741868 PMID:28492532 NCBI chr 6:7,274,469...7,285,841
Ensembl chr 6:7,274,469...7,285,841
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:9536098 PMID:16199547 PMID:17576681 PMID:23423984 PMID:23830146 More... NCBI chr 6:7,159,285...7,261,826
Ensembl chr 6:7,159,061...7,261,892
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:25741878 PMID:26820108 More... NCBI chr13:101,184,127...101,229,714
Ensembl chr13:101,184,127...101,229,669
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      gastrointestinal system disease 6078
        Digestive System Abnormalities 528
          intestinal atresia 10
            Atresia of Small Intestine 0
            Colonic Atresia 0
            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 17289
    disease of anatomical entity 16625
      gastrointestinal system disease 6078
        Gastrointestinal Diseases 4157
          intestinal disease 2461
            intestinal atresia 10
              Atresia of Small Intestine 0
              Colonic Atresia 0
              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