FTP Download
Chinchilla Research Resource Database
   
Keyword
  

ONTOLOGY REPORT - ANNOTATIONS


Term:complex cortical dysplasia with other brain malformations 7
go back to main search page
Accession:DOID:0090132 term browser browse the term
Definition:A complex cortical dysplasia with other brain malformations characterized by autosomal dominant inheritance of abnromalities in coritcal brain development that has_material_basis_in heterozygous mutation in the TUBB2B gene on chromosome 6p25. (DO)
Synonyms:exact_synonym: CDCBM7;   PMGYSA;   POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC;   polymicrogyria due to TUBB2B mutation
 primary_id: OMIM:610031
 alt_id: RDO:0009372
 xref: GARD:10783;   ORDO:208444;   ORDO:300573
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 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb2b tubulin, beta 2B class IIb JBrowse link 17 31,441,640 31,444,687 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          complex cortical dysplasia with other brain malformations 7 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Nervous System Malformations 657
            complex cortical dysplasia with other brain malformations 416
              complex cortical dysplasia with other brain malformations 7 1
paths to the root