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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 2
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Accession:DOID:0090133 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 kinesin family member 5C (KIF5C) gene on chromosome 2q23. (DO)
Synonyms:exact_synonym: CDCBM2
 primary_id: OMIM:615282
For additional species annotation, visit the Alliance of Genome Resources.



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complex cortical dysplasia with other brain malformations 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5c kinesin family member 5C ISO ClinVar Annotator: match by OMIM:615282
ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 2
OMIM
ClinVar
PMID:23033978 PMID:23603762 PMID:24088041 PMID:24812067 PMID:25741868 More... NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          complex cortical dysplasia with other brain malformations 2 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          monogenic disease 7165
            autosomal genetic disease 6315
              autosomal dominant disease 4479
                complex cortical dysplasia with other brain malformations 1194
                  complex cortical dysplasia with other brain malformations 2 1
paths to the root