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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:cortical dysplasia-focal epilepsy syndrome
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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: 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 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 16103
    syndrome 6989
      Pitt-Hopkins syndrome 6
        cortical dysplasia-focal epilepsy syndrome 4
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        central nervous system disease 9005
          brain disease 8328
            disease of mental health 5991
              developmental disorder of mental health 3111
                specific developmental disorder 2287
                  intellectual disability 2107
                    Pitt-Hopkins syndrome 6
                      cortical dysplasia-focal epilepsy syndrome 4
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.