Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:cortical dysplasia-focal epilepsy syndrome
go back to main search page
Accession:DOID:0090130 term browser browse the term
Definition:A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36. (DO)
Synonyms:exact_synonym: CDFE syndrome;   CDFES;   PITT-HOPKINS-LIKE SYNDROME 1
 narrow_synonym: PTHSL1
 primary_id: MESH:C566482;   MESH:C567657
 alt_id: OMIM:610042
 xref: NCI:C133743;   ORDO:163681
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cortical dysplasia-focal epilepsy syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap2 contactin associated protein 2 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1
ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome
ClinVar Annotator: match by term: PITT-HOPKINS-LIKE SYNDROME 1
OMIM
ClinVar
PMID:6564677 PMID:11568923 PMID:16571880 PMID:18179895 PMID:18414213 PMID:19302947 PMID:19896112 PMID:20711234 PMID:21827697 PMID:22031302 PMID:22872700 PMID:23714751 PMID:24083349 PMID:24807205 PMID:25167861 PMID:25621974 PMID:25741868 PMID:26467025 PMID:26843181 PMID:27066544 PMID:27439707 PMID:27621318 PMID:27734276 PMID:27747449 PMID:28440294 PMID:28492532 PMID:29358611 PMID:29788201 PMID:32860008 NCBI chr 4:74,700,539...77,025,463 JBrowse link
G Cul1 cullin 1 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 ClinVar PMID:16571880 PMID:22872700 PMID:28492532 NCBI chr 4:77,211,814...77,283,369
Ensembl chr 4:77,211,692...77,280,250
JBrowse link
G Ezh2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 ClinVar PMID:16571880 PMID:22872700 PMID:28492532 NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
JBrowse link
G Tpk1 thiamin pyrophosphokinase 1 ISO ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 ClinVar PMID:27439707 NCBI chr 4:72,792,252...73,174,179
Ensembl chr 4:72,792,252...73,174,179
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      Pitt-Hopkins syndrome 6
        cortical dysplasia-focal epilepsy syndrome 4
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        central nervous system disease 9061
          brain disease 8367
            disease of mental health 5972
              developmental disorder of mental health 3107
                specific developmental disorder 2309
                  intellectual disability 2157
                    Pitt-Hopkins syndrome 6
                      cortical dysplasia-focal epilepsy syndrome 4
paths to the root