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ONTOLOGY REPORT - ANNOTATIONS


Term:multiple congenital anomalies-hypotonia-seizures syndrome 2
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Accession:DOID:0080139 term browser browse the term
Definition:A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. (DO)
Synonyms:exact_synonym: EIEE20;   GPIBD4;   MCAHS2;   early infantile epileptic encephalopathy 20;   glycosylphosphatidylinositol biosynthesis defect 4
 primary_id: OMIM:300868
 alt_id: DOID:0080466;   RDO:9000576
 xref: GARD:12777;   ORDO:300496
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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

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Path 1
Term Annotations click to browse term
  disease 15609
    syndrome 5791
      multiple congenital anomalies-hypotonia-seizures syndrome 5
        multiple congenital anomalies-hypotonia-seizures syndrome 2 1
Path 2
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  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        sensory system disease 4769
          eye disease 2338
            visual pathway disease 654
              visual cortex disease 652
                visual epilepsy 652
                  multiple congenital anomalies-hypotonia-seizures syndrome 5
                    multiple congenital anomalies-hypotonia-seizures syndrome 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.