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:alt_id: DOID:9007066
 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
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 14875
    syndrome 4220
      multiple congenital anomalies-hypotonia-seizures syndrome 3
        multiple congenital anomalies-hypotonia-seizures syndrome 1 1
        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 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          eye and adnexa disease 1985
            eye disease 1985
              visual pathway disease 498
                visual cortex disease 497
                  visual epilepsy 497
                    multiple congenital anomalies-hypotonia-seizures syndrome 3
                      multiple congenital anomalies-hypotonia-seizures syndrome 1 1
                      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.