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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:Gastrointestinal defects and immunodeficiency syndrome
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Accession:DOID:9009203 term browser browse the term
Synonyms:exact_synonym: GIDID
 xref: MIM:PS243150


show annotations for term's descendants           Sort by:
Gastrointestinal defects and immunodeficiency syndrome term browser
Symbol Object Name 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: Gastrointestinal defects and immunodeficiency syndrome ClinVar 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: Gastrointestinal defects and immunodeficiency syndrome ClinVar PMID:16199547 PMID:23423984 PMID:23830146 PMID:24292712 PMID:24417819 More... NCBI chr 6:7,159,285...7,261,826
Ensembl chr 6:7,159,061...7,261,892 		JBrowse link
Gastrointestinal Defects and Immunodeficiency Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pi4ka phosphatidylinositol 4-kinase alpha ISO ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:34415310 NCBI chr11:83,609,148...83,726,876
Ensembl chr11:83,609,069...83,724,080 		JBrowse link
multiple intestinal atresia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Calm2 calmodulin 2 ISO ClinVar Annotator: match by term: Multiple gastrointestinal atresias ClinVar PMID:28492532 NCBI chr 6:7,091,624...7,104,284
Ensembl chr 6:7,091,567...7,104,287
Ensembl chr15:7,091,567...7,104,287 		JBrowse link
G Mcfd2 multiple coagulation factor deficiency 2, ER cargo receptor complex subunit ISO ClinVar Annotator: match by term: Multiple gastrointestinal atresias | ClinVar Annotator: match by term: Multiple intestinal atresia 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 Stpg4 sperm-tail PG-rich repeat containing 4 ISO ClinVar Annotator: match by term: Multiple gastrointestinal atresias ClinVar PMID:28492532 NCBI chr 6:7,108,827...7,158,519
Ensembl chr 6:7,108,869...7,151,390 		JBrowse link
G Ttc7a tetratricopeptide repeat domain 7A ISO ClinVar Annotator: match by term: Familial intestinal polyatresia syndrome | ClinVar Annotator: match by term: Gastrointestinal defects and immunodeficiency syndrome 1 | ClinVar Annotator: match by term: Multiple gastrointestinal atresias | ClinVar Annotator: match by term: Multiple intestinal atresia
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    syndrome 11175
      primary immunodeficiency disease 4303
        Gastrointestinal defects and immunodeficiency syndrome 5
          Gastrointestinal Defects and Immunodeficiency Syndrome 2 1
          multiple intestinal atresia 4
Path 2
Term Annotations click to browse term
  disease 19055
    disease of anatomical entity 18391
      Immune & Inflammatory Diseases 5737
        immune system disease 4926
          primary immunodeficiency disease 4303
            Gastrointestinal defects and immunodeficiency syndrome 5
              Gastrointestinal Defects and Immunodeficiency Syndrome 2 1
              multiple intestinal atresia 4
paths to the root