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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:This disease is an 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. (OMIM)
Synonyms:exact_synonym: CDCBM10
 broad_synonym: APC2-RELATED CONDITION
 primary_id: OMIM:618677


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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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31585108 NCBI chr 7:9,392,336...9,414,364
Ensembl chr 7:9,392,336...9,414,310 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Nervous System Malformations 2371
          complex cortical dysplasia with other brain malformations 1588
            Complex Cortical Dysplasia with Other Brain Malformations 10 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                complex cortical dysplasia with other brain malformations 1588
                  Complex Cortical Dysplasia with Other Brain Malformations 10 1
paths to the root