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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 4
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Accession:DOID:0090138 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 gamma 1 gene on chromosome 17q21. (DO)
Synonyms:exact_synonym: CDCBM4
 primary_id: OMIM:615412
 alt_id: RDO:9000938
For additional species annotation, visit the Alliance of Genome Resources.


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complex cortical dysplasia with other brain malformations 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubg1 tubulin, gamma 1 ISO ClinVar Annotator: match by OMIM:615412
ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 4
OMIM
ClinVar
PMID:23603762, PMID:25741868 NCBI chr10:89,030,865...89,037,455
Ensembl chr10:89,030,865...89,037,455
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          complex cortical dysplasia with other brain malformations 4 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                complex cortical dysplasia with other brain malformations 749
                  complex cortical dysplasia with other brain malformations 4 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.