Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:complex cortical dysplasia with other brain malformations 3
go back to main search page
Accession:DOID:0090134 term browser browse the term
Definition:A complex cortical dysplasia with other brain malformations that has_material_basis_in heterozygous mutation in the KIF2A gene on chromosome 5q12. (DO)
Synonyms:exact_synonym: CDCBM3
 primary_id: OMIM:615411
 alt_id: RDO:9000937
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
complex cortical dysplasia with other brain malformations 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif2a kinesin family member 2A JBrowse link 2 38,145,507 38,208,765 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          complex cortical dysplasia with other brain malformations 3 1
Path 2
Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        Congenital Abnormalities 3188
          Nervous System Malformations 652
            complex cortical dysplasia with other brain malformations 405
              complex cortical dysplasia with other brain malformations 3 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.