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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.

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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 II
ClinVar Annotator: match by term: Focal cortical dysplasia type 2
ClinVar Annotator: match by term: Focal cortical dysplasia of Taylor		 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 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        central nervous system disease 9126
          brain disease 8438
            epilepsy 1505
              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 16158
    Developmental Disease 9628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8455
        genetic disease 7972
          monogenic disease 5749
            autosomal genetic disease 4887
              autosomal dominant disease 3117
                complex cortical dysplasia with other brain malformations 717
                  Malformations of Cortical Development, Group I 575
                    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