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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:C567657
 alt_id: OMIM:610042
 xref: NCI:C133743;   ORDO:163681


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cortical dysplasia-focal epilepsy syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C6H7orf33 chromosome 6 C7orf33 homolog ISO ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome ClinVar PMID:16571880 PMID:22872700 PMID:28492532 NCBI chr 7:140,317,024...140,342,184
Ensembl chr 7:152,798,008...152,823,097 		JBrowse link
G CNTNAP2 contactin associated protein 2 susceptibility ISO ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome | ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 ClinVar
OMIM		 PMID:6564677 PMID:9536098 PMID:11568923 PMID:16199547 PMID:16571880 More... NCBI chr 7:137,858,607...140,150,820
Ensembl chr 7:150,345,240...152,626,818 		JBrowse link
G CUL1 cullin 1 ISO ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome ClinVar PMID:16571880 PMID:22872700 PMID:28492532 NCBI chr 7:140,428,442...140,531,136
Ensembl chr 7:152,908,303...153,011,254 		JBrowse link
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit ISO ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome ClinVar PMID:16571880 PMID:22872700 PMID:28492532 NCBI chr 7:140,536,962...140,613,104
Ensembl chr 7:153,017,590...153,059,726 		JBrowse link
G TPK1 thiamin pyrophosphokinase 1 ISO ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome ClinVar PMID:27439707 NCBI chr 7:136,165,941...136,549,606
Ensembl chr 7:148,654,445...149,036,342 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    syndrome 10168
      Pitt-Hopkins syndrome 17
        cortical dysplasia-focal epilepsy syndrome 5
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            disease of mental health 8111
              developmental disorder of mental health 5547
                specific developmental disorder 4510
                  intellectual disability 4322
                    Pitt-Hopkins syndrome 17
                      cortical dysplasia-focal epilepsy syndrome 5
paths to the root