Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 35
go back to main search page
Accession:DOID:0080458 term browser browse the term
Definition:An autosomal recessive neurodegenerative disorder characterized by onset of seizures in the first months of life associated with essentially no normal development. Brain imaging shows a characteristic pattern consistent with lack of myelination of early structures, including the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices. (OMIM)
Synonyms:exact_synonym: EIEE35;   ITPA-related encephalopathy
 primary_id: OMIM:616647
 alt_id: RDO:9000779
 xref: ORDO:457375
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
early infantile epileptic encephalopathy 35 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Itpa inosine triphosphatase JBrowse link 3 123,209,611 123,221,266 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      electroclinical syndrome 328
        neonatal period electroclinical syndrome 187
          early infantile epileptic encephalopathy 178
            early infantile epileptic encephalopathy 35 1
Path 2
Term Annotations click to browse term
  disease 15590
    disease of anatomical entity 14919
      nervous system disease 10196
        sensory system disease 4659
          eye and adnexa disease 2236
            eye disease 2236
              visual pathway disease 644
                visual cortex disease 642
                  visual epilepsy 642
                    childhood onset epileptic encephalopathy 185
                      Infantile or Early Childhood Epileptic Encephalopathy 181
                        early infantile epileptic encephalopathy 178
                          early infantile epileptic encephalopathy 35 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.