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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple congenital anomalies-hypotonia-seizures syndrome 1
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Accession:DOID:0080138 term browser browse the term
Definition:A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21. (DO)
Synonyms:exact_synonym: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3;   GPIBD3;   MCAHS1
 primary_id: OMIM:614080
 alt_id: RDO:9000575
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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

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Path 1
Term Annotations click to browse term
  disease 16017
    syndrome 6141
      multiple congenital anomalies-hypotonia-seizures syndrome 5
        multiple congenital anomalies-hypotonia-seizures syndrome 1 3
Path 2
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  disease 16017
    disease of anatomical entity 15273
      nervous system disease 10762
        sensory system disease 4971
          eye disease 2387
            visual pathway disease 621
              visual cortex disease 619
                visual epilepsy 619
                  multiple congenital anomalies-hypotonia-seizures syndrome 5
                    multiple congenital anomalies-hypotonia-seizures syndrome 1 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.