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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 7
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Accession:DOID:0090132 term browser browse the term
Definition:A complex cortical dysplasia with other brain malformations that is characterized by abnromalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25. (DO)
Synonyms:exact_synonym: CDCBM7;   PMGYSA;   POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC;   polymicrogyria due to TUBB2B mutation
 primary_id: OMIM:610031
 xref: ORDO:300573
For additional species annotation, visit the Alliance of Genome Resources.



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complex cortical dysplasia with other brain malformations 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb2b tubulin, beta 2B class IIb ISO ClinVar Annotator: match by term: Complex cortical dysplasia with other brain malformations 7 OMIM
ClinVar
PMID:11425694 PMID:18414213 PMID:19465910 PMID:22333901 PMID:23001566 More... NCBI chr17:30,747,734...30,750,781
Ensembl chr17:30,747,734...30,750,638
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        Nervous System Malformations 2060
          complex cortical dysplasia with other brain malformations 1451
            complex cortical dysplasia with other brain malformations 7 1
Path 2
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11719
        genetic disease 11226
          monogenic disease 8779
            autosomal genetic disease 7817
              autosomal dominant disease 5310
                complex cortical dysplasia with other brain malformations 1451
                  complex cortical dysplasia with other brain malformations 7 1
paths to the root