ONTOLOGY REPORT - ANNOTATIONS


Term:multiple intestinal atresia
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Accession:DOID:14671 term browser browse the term
Synonyms:exact_synonym: FIPA;   Familial Intestinal Polyatresia Syndrome;   GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME;   GIDID;   MINAT;   multiple gastrointestinal atresias;   multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency
 primary_id: MESH:C562441
 alt_id: OMIM:243150;   RDO:0012166
 xref: GARD:3013
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multiple intestinal atresia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bscl2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 1 225,035,956 225,046,137 RGD:8554872
G Mcfd2 multiple coagulation factor deficiency 2 JBrowse link 6 10,887,303 10,899,221 RGD:8554872
G Pkd1 polycystin 1, transient receptor potential channel interacting JBrowse link 10 13,914,057 13,962,008 RGD:8554872
G Ttc7a tetratricopeptide repeat domain 7A JBrowse link 6 10,912,383 11,014,279 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      gastrointestinal system disease 4251
        Digestive System Abnormalities 265
          intestinal atresia 12
            multiple intestinal atresia 4
Path 2
Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal recessive disease 1249
                multiple intestinal atresia 4
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.