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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:complex cortical dysplasia with other brain malformations 6
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Accession:DOID:0090136 term browser browse the term
Definition:A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: CDCBM6
 related_synonym: CDCBM56
 primary_id: OMIM:615771



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complex cortical dysplasia with other brain malformations 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb5 tubulin, beta 5 class I ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 6
OMIM
CTD
ClinVar
PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More... NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          complex cortical dysplasia with other brain malformations 6 1
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          monogenic disease 10324
            autosomal genetic disease 9470
              autosomal dominant disease 6224
                complex cortical dysplasia with other brain malformations 1583
                  complex cortical dysplasia with other brain malformations 6 1
paths to the root