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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
 primary_id: OMIM:615763;   RDO:9000740
For additional species annotation, visit the Alliance of Genome Resources.


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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 Tubb2a tubulin, beta 2A class IIa ISO ClinVar Annotator: match by OMIM:615763
ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 5
OMIM
ClinVar
PMID:19465910, PMID:21292473, PMID:22333901, PMID:22591407, PMID:24702957, PMID:24860126, PMID:25008804, PMID:25059107, PMID:25326637, PMID:25741868, PMID:27770045, PMID:28840640 NCBI chr17:31,493,145...31,496,827
Ensembl chr17:31,493,107...31,498,651
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          complex cortical dysplasia with other brain malformations 5 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  complex cortical dysplasia with other brain malformations 5 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.