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ONTOLOGY REPORT - ANNOTATIONS


Term:Lissencephaly 6, with Microcephaly
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Accession:DOID:9008089 term browser browse the term
Definition:An autosomal recessive neurodevelopmental disorder characterized by severe microcephaly and developmental delay. Brain imaging shows variable malformations of cortical development, including lissencephaly, pachygyria, and hypoplasia of the corpus callosum. (OMIM)
Synonyms:primary_id: OMIM:616212;   RDO:9001635
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Lissencephaly 6, with Microcephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Katnb1 katanin regulatory subunit B1 JBrowse link 19 10,340,027 10,360,319 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15620
    physical disorder 744
      congenital nervous system abnormality 304
        lissencephaly 52
          Lissencephaly 6, with Microcephaly 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                complex cortical dysplasia with other brain malformations 481
                  Malformations of Cortical Development, Group I 338
                    microcephaly 210
                      Lissencephaly 6, with Microcephaly 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.