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

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Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      multiple congenital anomalies-hypotonia-seizures syndrome 3
        multiple congenital anomalies-hypotonia-seizures syndrome 1 1
Path 2
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  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        sensory system disease 4244
          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
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.