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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
 alt_id: RDO:9001045
For additional species annotation, visit the Alliance of Genome Resources.

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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 ClinVar Annotator: match by OMIM:615771
ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 6		 OMIM
ClinVar		 PMID:23246003, PMID:24833723, PMID:26637975, PMID:29706646 NCBI chr20:3,422,448...3,426,420
Ensembl chr20:3,422,461...3,426,371 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          complex cortical dysplasia with other brain malformations 6 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal dominant disease 2993
                complex cortical dysplasia with other brain malformations 741
                  complex cortical dysplasia with other brain malformations 6 1
paths to the root

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