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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    syndrome 5159
      multiple congenital anomalies-hypotonia-seizures syndrome 5
        multiple congenital anomalies-hypotonia-seizures syndrome 1 3
Path 2
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  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        sensory system disease 4681
          eye and adnexa disease 2253
            eye disease 2253
              visual pathway disease 649
                visual cortex disease 647
                  visual epilepsy 647
                    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.