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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:0061138 term browser browse the term
Definition:A complex cortical dysplasia with other brain malformations characterized by profoundly impaired motor and cognitive development apparent from early infancy that has_material_basis_in homozygous mutation in the CTNNA2 gene on chromosome 2p12. (DO)
Synonyms:exact_synonym: CDCBM9;   CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9
 broad_synonym: CTNNA2-related condition
 alt_id: DOID:9001005
 xref: MIM:618174;   MONDO:0032578


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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: CTNNA2-related condition | ClinVar Annotator: match by term: Cortical dysplasia, complex, with other brain malformations 9 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30013181 NCBI chr 4:110,852,265...112,001,351
Ensembl chr 4:110,852,265...112,001,365 		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 4:111,246,213...111,295,638
Ensembl chr 4:111,235,054...111,276,818 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Nervous System Malformations 2471
          complex cortical dysplasia with other brain malformations 1650
            complex cortical dysplasia with other brain malformations 9 2
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                complex cortical dysplasia with other brain malformations 9 2
paths to the root