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ONTOLOGY REPORT - ANNOTATIONS


Term:early infantile epileptic encephalopathy 2
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Accession:DOID:0080467 term browser browse the term
Definition:An X-linked dominant severe neurologic disorder characterized by onset of seizures in the first months of life and severe global developmental delay resulting in mental retardation and poor motor control. Other features include lack of speech development, subtle dysmorphic facial features, sleep disturbances, gastrointestinal problems, and stereotypic hand movements. (OMIM)
Synonyms:exact_synonym: CDKL5 disorder;   EIEE2;   ISSX2;   Infantile Spasm Syndrome, X-Linked 2;   Rett Syndrome, Atypical, Cdkl5-Related;   Rett syndrome, variant, with infantile spasms;   X-linked dominant infantile spasm syndrome-2
 primary_id: MESH:C564064
 alt_id: OMIM:300672;   RDO:0013150
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early infantile epileptic encephalopathy 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bend2 BEN domain containing 2 JBrowse link X 35,151,376 35,200,501 RGD:8554872
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
RGD:12791015
RGD:7240710
G Nhs NHS actin remodeling regulator JBrowse link X 34,312,102 34,675,912 RGD:8554872
G Rai2 retinoic acid induced 2 JBrowse link X 34,731,891 34,794,589 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:8554872
G Scml1 Scm polycomb group protein like 1 JBrowse link X 34,676,728 34,694,251 RGD:8554872
G Scml2 Scm polycomb group protein like 2 JBrowse link X 35,305,235 35,431,271 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    syndrome 5162
      Rett syndrome 18
        early infantile epileptic encephalopathy 2 7
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        central nervous system disease 8101
          brain disease 7571
            disease of mental health 5520
              developmental disorder of mental health 2712
                specific developmental disorder 1884
                  intellectual disability 1706
                    syndromic intellectual disability 674
                      Mental Retardation, X-Linked 656
                        Rett syndrome 18
                          early infantile epileptic encephalopathy 2 7
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.