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ONTOLOGY REPORT - ANNOTATIONS


Term:Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures
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Accession:DOID:9009222 term browser browse the term
Definition:NEDAMSS is caused by heterozygous mutation in the IRF2BPL gene on chromosome 14q24. (OMIM)
Synonyms:exact_synonym: NEDAMSS
 broad_synonym: IRF2BPL-related condition
 primary_id: OMIM:618088
For additional species annotation, visit the Alliance of Genome Resources.


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Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Irf2bpl interferon regulatory factor 2 binding protein-like JBrowse link 6 110,901,940 110,904,288 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15503
    Developmental Diseases 8880
      Neurodevelopmental Disorders 4162
        Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures 1
Path 2
Term Annotations click to browse term
  disease 15503
    disease of anatomical entity 14857
      nervous system disease 10273
        central nervous system disease 8410
          brain disease 7763
            disease of mental health 5617
              Neurodevelopmental Disorders 4162
                Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.