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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:Focal Cortical Dysplasia of Taylor
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Accession:DOID:9008426 term browser browse the term
Synonyms:exact_synonym: CDT;   Cortical dysplasia of Taylor;   FCDT;   FCORD2;   Focal Cortical Dysplasia, Type II;   Focal cortical dysplasia, type 2
 narrow_synonym: focal cortical dysplasia, type II, somatic
 broad_synonym: MTOR-RELATED CONDITION;   NEURODEVELOPMENTAL DISORDER, MTOR RELATED
 primary_id: MESH:C537067
 alt_id: MIM:607341
 xref: NCI:C201593


show annotations for term's descendants           Sort by:
Focal Cortical Dysplasia of Taylor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO protein:decreased expression, altered localization:cerebral cortex: RGD PMID:22752548 RGD:9068443 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal cortical dysplasia type 2		 OMIM
CTD
ClinVar		 PMID:17360675 PMID:20190810 PMID:23636326 PMID:24631838 PMID:25741868 More... NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Tsc1 TSC complex subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 | ClinVar Annotator: match by term: Focal cortical dysplasia type II		 OMIM
CTD
ClinVar		 PMID:9242607 PMID:9328481 PMID:9536098 PMID:9803264 PMID:9863590 More... NCBI chr 3:11,969,547...12,018,591
Ensembl chr 3:11,979,729...12,015,674 		JBrowse link
G Tsc2 TSC complex subunit 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor | ClinVar Annotator: match by term: Focal cortical dysplasia type 2 | ClinVar Annotator: match by term: Focal cortical dysplasia type II		 CTD
OMIM
ClinVar		 PMID:8824881 PMID:9463313 PMID:9536098 PMID:9829910 PMID:10205261 More... NCBI chr10:13,621,135...13,655,773
Ensembl chr10:13,621,136...13,655,951 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      nervous system disease 14257
        central nervous system disease 12589
          brain disease 11814
            epilepsy 2984
              Focal Cortical Dysplasia of Taylor 5
                Focal Cortical Dysplasia of Taylor, Type IIA 0
                Focal Cortical Dysplasia of Taylor, Type IIB 0
Path 2
Term Annotations click to browse term
  disease 19050
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          monogenic disease 10702
            autosomal genetic disease 9874
              autosomal dominant disease 6533
                complex cortical dysplasia with other brain malformations 1633
                  Malformations of Cortical Development, Group I 1393
                    Focal Cortical Dysplasia of Taylor 5
                      Focal Cortical Dysplasia of Taylor, Type IIA 0
                      Focal Cortical Dysplasia of Taylor, Type IIB 0
paths to the root