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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 9
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Accession:DOID:9001005 term browser browse the term
Definition:A severe autosomal recessive disorder characterized by profoundly impaired motor and cognitive development apparent from early infancy. Affected individuals develop intractable seizures and are unable to speak or ambulate. Brain imaging shows pachygyria as well as hypogenesis of the corpus callosum.
Synonyms:exact_synonym: CDCBM9;   CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9
 primary_id: MIM:618174


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Complex Cortical Dysplasia with Other Brain Malformations 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnna2 catenin alpha 2 ISO ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 9 OMIM
ClinVar		 PMID:25741868 PMID:30013181 NCBI chr 4:109,294,249...110,443,409
Ensembl chr 4:109,293,978...110,443,522 		JBrowse link
G LRRTM1 leucine rich repeat transmembrane neuronal 1 ISO ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 9 ClinVar NCBI chr 4:109,701,815...109,718,924
Ensembl chr 4:109,701,815...109,717,184 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        Nervous System Malformations 2448
          complex cortical dysplasia with other brain malformations 1633
            Complex Cortical Dysplasia with Other Brain Malformations 9 2
Path 2
Term Annotations click to browse term
  disease 19100
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          monogenic disease 10860
            autosomal genetic disease 10342
              autosomal dominant disease 6692
                complex cortical dysplasia with other brain malformations 1633
                  Complex Cortical Dysplasia with Other Brain Malformations 9 2
paths to the root