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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 TTC7A on chromosome 2p21. (DO)
Synonyms:exact_synonym: FIPA;   GIDID;   MEDDRA:10028210;   MINAT;   familial intestinal polyatresia syndrome;   gastrointestinal defects and immunodeficiency syndrome;   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;   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 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 OMIM:243150
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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      gastrointestinal system disease 4655
        Digestive System Abnormalities 428
          intestinal atresia 10
            multiple intestinal atresia 2
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal recessive disease 2616
                multiple intestinal atresia 2
paths to the root