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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
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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 16 70,252,295 70,289,509 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 16438
    syndrome 5508
      electroclinical syndrome 355
        neonatal period electroclinical syndrome 210
          early infantile epileptic encephalopathy 200
            early infantile epileptic encephalopathy 29 1
Path 2
Term Annotations click to browse term
  disease 16438
    disease of anatomical entity 15412
      nervous system disease 11682
        sensory system disease 4895
          eye and adnexa disease 2410
            eye disease 2410
              visual pathway disease 664
                visual cortex disease 662
                  visual epilepsy 662
                    childhood onset epileptic encephalopathy 207
                      Infantile or Early Childhood Epileptic Encephalopathy 203
                        early infantile epileptic encephalopathy 200
                          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.