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ONTOLOGY REPORT - ANNOTATIONS


Term:Periventricular Nodular Heterotopia 7
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Accession:DOID:9001678 term browser browse the term
Definition:A neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability. (OMIM)
Synonyms:exact_synonym: PVNH7
 primary_id: OMIM:617201
 alt_id: RDO:9001302
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Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nedd4l NEDD4 like E3 ubiquitin protein ligase JBrowse link 18 60,392,376 60,719,720 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15626
    physical disorder 744
      congenital nervous system abnormality 304
        periventricular nodular heterotopia 13
          Periventricular Nodular Heterotopia 7 1
Path 2
Term Annotations click to browse term
  disease 15626
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          monogenic disease 4659
            autosomal genetic disease 3619
              autosomal dominant disease 2135
                complex cortical dysplasia with other brain malformations 481
                  Malformations of Cortical Development, Group II 125
                    periventricular nodular heterotopia 13
                      Periventricular Nodular Heterotopia 7 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.