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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:multiple intestinal atresia
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Accession:DOID:14671 term browser browse the term
Definition:An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in the TTC7A gene on chromosome 2p21. (DO)
Synonyms:exact_synonym: FIPA;   GIDID;   GIDID1;   MINAT;   familial intestinal polyatresia syndrome;   gastrointestinal defects and immunodeficiency syndrome;   gastrointestinal defects and immunodeficiency syndrome 1;   multiple gastrointestinal atresias;   multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency
 primary_id: MESH:C562441
 alt_id: OMIM:243150
 xref: GARD:3013;   MEDDRA:10028210;   ORDO:2300
For additional species annotation, visit the Alliance of Genome Resources.


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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: Gastrointestinal defects and immunodeficiency syndrome | 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 | 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 18969
    disease of anatomical entity 18248
      gastrointestinal system disease 7094
        intestinal disease 3075
          intestinal atresia 12
            multiple intestinal atresia 4
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          monogenic disease 10418
            autosomal genetic disease 9576
              autosomal recessive disease 6655
                multiple intestinal atresia 4
paths to the root