ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 27
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Accession:DOID:0080444 term browser browse the term
Definition:An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development and intellectual disability of variable severity associated with early-onset seizures.
Synonyms:exact_synonym: DEVELOPMENTAL DELAY WITH INTRACTABLE SEIZURES;   EIEE27
 primary_id: OMIM:616139
 alt_id: DOID:9006198;   RDO:9001456
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early infantile epileptic encephalopathy 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B JBrowse link 4 169,541,620 170,000,216 RGD:8554872
RGD:7240710
G Mbd5 methyl-CpG binding domain protein 5 JBrowse link 3 33,364,812 33,504,144 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14920
    syndrome 4714
      electroclinical syndrome 284
        neonatal period electroclinical syndrome 136
          early infantile epileptic encephalopathy 127
            early infantile epileptic encephalopathy 27 2
Path 2
Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      nervous system disease 9150
        central nervous system disease 6948
          brain disease 6454
            epilepsy 1021
              electroclinical syndrome 284
                infancy electroclinical syndrome 153
                  West syndrome 153
                    Infantile or Early Childhood Epileptic Encephalopathy 130
                      early infantile epileptic encephalopathy 127
                        early infantile epileptic encephalopathy 27 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.