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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 29
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Accession:DOID:0080451 term browser browse the term
Definition:An early infantile epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AARS gene on chromosome 16q22. (DO)
Synonyms:exact_synonym: EIEE29
 primary_id: OMIM:616339
 alt_id: RDO:9001226
For additional species annotation, visit the Alliance of Genome Resources.


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early infantile epileptic encephalopathy 29 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars1 alanyl-tRNA synthetase 1 JBrowse link NW_004936475 23,268,613 23,294,236 RGD:7240710
RGD:9068941

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Path 1
Term Annotations click to browse term
  disease 11368
    syndrome 4474
      electroclinical syndrome 309
        neonatal period electroclinical syndrome 186
          early infantile epileptic encephalopathy 177
            early infantile epileptic encephalopathy 29 1
Path 2
Term Annotations click to browse term
  disease 11368
    disease of anatomical entity 11036
      nervous system disease 8876
        sensory system disease 4180
          eye and adnexa disease 2059
            eye disease 2059
              visual pathway disease 605
                visual cortex disease 603
                  visual epilepsy 603
                    childhood onset epileptic encephalopathy 184
                      Infantile or Early Childhood Epileptic Encephalopathy 180
                        early infantile epileptic encephalopathy 177
                          early infantile epileptic encephalopathy 29 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.