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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, PMID:26633545 NCBI chr 3:35,014,157...35,257,417
Ensembl chr 3:35,014,538...35,257,407
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          complex cortical dysplasia with other brain malformations 2 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal dominant disease 3040
                complex cortical dysplasia with other brain malformations 750
                  complex cortical dysplasia with other brain malformations 2 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.