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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: OMIM:618174
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar
OMIM
PMID:30013181 NCBI chr 4:107,880,611...109,042,724
Ensembl chr 4:107,881,826...108,008,484
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        Nervous System Malformations 1102
          complex cortical dysplasia with other brain malformations 754
            Complex Cortical Dysplasia with Other Brain Malformations 9 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                complex cortical dysplasia with other brain malformations 754
                  Complex Cortical Dysplasia with Other Brain Malformations 9 1
paths to the root