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: IRF2BPL-RELATED CONDITION;   NEDAMSS
 primary_id: OMIM:618088
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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

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  disease 14875
    Developmental Diseases 7711
      Neurodevelopmental Disorders 2756
        NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES 1
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Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            disease of mental health 4325
              Neurodevelopmental Disorders 2756
                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.