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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 5
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Accession:DOID:0090135 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 2A class IIa (TUBB2A) gene on chromosome 6p25. (DO)
Synonyms:exact_synonym: CDCBM5;   TUBB2A-RELATED CONDITION
 primary_id: MIM:615763
 xref: NCI:C189285


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complex cortical dysplasia with other brain malformations 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bphl biphenyl hydrolase like ISO ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 5 ClinVar PMID:25741868 PMID:26633542 PMID:28492532 PMID:34869359 NCBI chr17:30,800,939...30,837,277
Ensembl chr17:30,799,629...30,837,288 		JBrowse link
G Tubb2a tubulin, beta 2A class IIa ISO ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 5 | ClinVar Annotator: match by term: TUBB2A-related condition OMIM
ClinVar		 PMID:24702957 PMID:25326637 PMID:25741868 PMID:26633542 PMID:27770045 More... NCBI chr17:30,796,842...30,800,713
Ensembl chr17:30,747,503...30,800,714 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    Developmental Disease 14521
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13535
        genetic disease 13198
          complex cortical dysplasia with other brain malformations 5 2
Path 2
Term Annotations click to browse term
  disease 19047
    Developmental Disease 14521
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13535
        genetic disease 13198
          monogenic disease 10701
            autosomal genetic disease 9873
              autosomal dominant disease 6529
                complex cortical dysplasia with other brain malformations 1633
                  complex cortical dysplasia with other brain malformations 5 2
paths to the root