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ONTOLOGY REPORT - ANNOTATIONS


Term:NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY
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Accession:DOID:9009122 term browser browse the term
Definition:An autosomal recessive neurodegenerative disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia. (OMIM)
Synonyms:exact_synonym: NEDMEBA
 primary_id: OMIM:617862
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NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trappc6b trafficking protein particle complex 6B JBrowse link 6 80,142,126 80,153,216 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    Developmental Diseases 8759
      Neurodevelopmental Disorders 4072
        NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY 1
Path 2
Term Annotations click to browse term
  disease 15626
    disease of anatomical entity 14956
      nervous system disease 10224
        central nervous system disease 8102
          brain disease 7571
            disease of mental health 5520
              Neurodevelopmental Disorders 4072
                NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.