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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 10
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Accession:DOID:9007534 term browser browse the term
Definition:Autosomal recessive neurodevelopmental disorder characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter. The disorder results from defective neuronal migration during brain development. Affected individuals often develop seizures, are unable to walk, and do not acquire language. (OMIM)
Synonyms:exact_synonym: CDCBM10
 primary_id: OMIM:618677
For additional species annotation, visit the Alliance of Genome Resources.


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Complex Cortical Dysplasia with Other Brain Malformations 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc2 APC regulator of WNT signaling pathway 2 ISO ClinVar Annotator: match by term: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 ClinVar
OMIM
PMID:31585108 NCBI chr 7:12,258,468...12,280,459
Ensembl chr 7:12,258,468...12,275,609
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        Nervous System Malformations 1041
          complex cortical dysplasia with other brain malformations 707
            Complex Cortical Dysplasia with Other Brain Malformations 10 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                complex cortical dysplasia with other brain malformations 707
                  Complex Cortical Dysplasia with Other Brain Malformations 10 1
paths to the root