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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 abnormalities 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;   TUBB2B-RELATED CONDITION;   polymicrogyria due to TUBB2B mutation
 primary_id: OMIM:610031
 xref: ORDO:300573


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13809
      nervous system disease 12068
        Nervous System Malformations 2234
          complex cortical dysplasia with other brain malformations 1519
            complex cortical dysplasia with other brain malformations 7 0
Path 2
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15993
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15946
        genetic disease 15936
          monogenic disease 9389
            autosomal genetic disease 8703
              autosomal dominant disease 5722
                complex cortical dysplasia with other brain malformations 1519
                  complex cortical dysplasia with other brain malformations 7 0
paths to the root