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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
 primary_id: MESH:C537067
 alt_id: OMIM:607341
For additional species annotation, visit the Alliance of Genome Resources.


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 chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:cerebral cortex RGD PMID:22459050 RGD:8547829 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC
ClinVar Annotator: match by term: Focal cortical dysplasia type 2
ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor
ClinVar Annotator: match by term: Focal cortical dysplasia type II
ClinVar
OMIM
PMID:24631838, PMID:25741868, PMID:25799227, PMID:25878179, PMID:26018084, PMID:26619011, PMID:27159400, PMID:27830187, PMID:28492532 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Tsc1 TSC complex subunit 1 ISO ClinVar Annotator: match by term: Focal cortical dysplasia type II
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:607341
OMIM
ClinVar
CTD
PMID:9242607, PMID:9328481, PMID:9803264, PMID:9863590, PMID:9924605, PMID:10227394, PMID:10353610, PMID:10363127, PMID:10533067, PMID:10570911, PMID:10607950, PMID:11208653, PMID:11329144, PMID:12015165, PMID:12111193, PMID:12112044, PMID:12773163, PMID:12853839, PMID:14551205, PMID:14633685, PMID:15798777, PMID:16114042, PMID:16554133, PMID:16981987, PMID:17304050, PMID:18032745, PMID:18397877, PMID:18414213, PMID:18772611, PMID:18830229, PMID:19139070, PMID:19175396, PMID:19747374, PMID:19918125, PMID:20165957, PMID:21309039, PMID:21510812, PMID:21624971, PMID:21811971, PMID:22161988, PMID:22558107, PMID:22703879, PMID:22995991, PMID:23254740, PMID:23389244, PMID:23514105, PMID:23857276, PMID:24033266, PMID:24633152, PMID:24728327, PMID:25077650, PMID:25741868, PMID:25900779, PMID:26332594, PMID:26467025, PMID:27153395, PMID:27425891, PMID:28215400, PMID:28492532, PMID:29706646 NCBI chr 3:7,219,955...7,269,063
Ensembl chr 3:7,237,192...7,265,145
JBrowse link
G Tsc2 TSC complex subunit 2 ISO ClinVar Annotator: match by term: Focal cortical dysplasia type II
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:15798777, PMID:21309039, PMID:22703879, PMID:22903760, PMID:24033266, PMID:24728327, PMID:25741868, PMID:28215400, PMID:28492532 NCBI chr10:13,962,006...13,996,684
Ensembl chr10:13,961,947...13,996,584
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            epilepsy 1528
              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 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group I 597
                    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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.