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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple congenital anomalies-hypotonia-seizures syndrome
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Accession:DOID:0080503 term browser browse the term
Definition:A lipid metabolism disorder that is characterized by phosphatidylinositol glycan anchor biosynthesis class A (PIGA) deficiency. (DO)
Synonyms:xref: OMIM:PS614080
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multiple congenital anomalies-hypotonia-seizures syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pign phosphatidylinositol glycan anchor biosynthesis, class N JBrowse link 13 25,510,593 25,662,943 RGD:8554872
multiple congenital anomalies-hypotonia-seizures syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pign phosphatidylinositol glycan anchor biosynthesis, class N JBrowse link 13 25,510,593 25,662,943 RGD:7240710
RGD:8554872
G Relch RAB11 binding and LisH domain, coiled-coil and HEAT repeat containing JBrowse link 13 25,656,983 25,752,792 RGD:8554872
G Tnfrsf11a TNF receptor superfamily member 11A JBrowse link 13 25,778,306 25,835,802 RGD:8554872
multiple congenital anomalies-hypotonia-seizures syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Piga phosphatidylinositol glycan anchor biosynthesis, class A JBrowse link X 31,786,823 31,799,751 RGD:7240710
RGD:8554872
multiple congenital anomalies-hypotonia-seizures syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T JBrowse link 3 160,945,556 160,954,738 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15489
    syndrome 5228
      multiple congenital anomalies-hypotonia-seizures syndrome 5
        multiple congenital anomalies-hypotonia-seizures syndrome 1 3
        multiple congenital anomalies-hypotonia-seizures syndrome 2 1
        multiple congenital anomalies-hypotonia-seizures syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 15489
    disease of anatomical entity 14790
      nervous system disease 10147
        sensory system disease 4593
          eye and adnexa disease 2149
            eye disease 2149
              visual pathway disease 532
                visual cortex disease 530
                  visual epilepsy 530
                    multiple congenital anomalies-hypotonia-seizures syndrome 5
                      multiple congenital anomalies-hypotonia-seizures syndrome 1 3
                      multiple congenital anomalies-hypotonia-seizures syndrome 2 1
                      multiple congenital anomalies-hypotonia-seizures syndrome 3 1
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.