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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
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  disease 15625
    syndrome 5162
      multiple congenital anomalies-hypotonia-seizures syndrome 5
        multiple congenital anomalies-hypotonia-seizures syndrome 2 1
Path 2
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  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        sensory system disease 4684
          eye and adnexa disease 2252
            eye disease 2252
              visual pathway disease 649
                visual cortex disease 647
                  visual epilepsy 647
                    childhood onset epileptic encephalopathy 188
                      Infantile or Early Childhood Epileptic Encephalopathy 184
                        early infantile epileptic encephalopathy 181
                          multiple congenital anomalies-hypotonia-seizures syndrome 2 1
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