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ONTOLOGY REPORT - ANNOTATIONS


Term:Complex Cortical Dysplasia with Other Brain Malformations 9
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Accession:DOID:9001005 term browser browse the term
Definition:A severe autosomal recessive disorder characterized by profoundly impaired motor and cognitive development apparent from early infancy. Affected individuals develop intractable seizures and are unable to speak or ambulate. Brain imaging shows pachygyria as well as hypogenesis of the corpus callosum.
Synonyms:exact_synonym: CDCBM9;   CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9
 primary_id: OMIM:618174
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Complex Cortical Dysplasia with Other Brain Malformations 9 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctnna2 catenin alpha 2 JBrowse link 4 107,880,611 109,042,724 RGD:8554872
RGD:7240710

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Path 1
Term Annotations click to browse term
  disease 15602
    disease of anatomical entity 14933
      nervous system disease 10260
        Nervous System Malformations 759
          complex cortical dysplasia with other brain malformations 493
            Complex Cortical Dysplasia with Other Brain Malformations 9 1
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        genetic disease 7068
          monogenic disease 4712
            autosomal genetic disease 3674
              autosomal dominant disease 2170
                complex cortical dysplasia with other brain malformations 493
                  Complex Cortical Dysplasia with Other Brain Malformations 9 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.