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ONTOLOGY REPORT - ANNOTATIONS


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: DOID:9005494;   OMIM:610042;   RDO:0014824;   RDO:0015672
 xref: ORDO:163681
For additional species annotation, visit the Alliance of Genome Resources.


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cortical dysplasia-focal epilepsy syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cntnap2 contactin associated protein-like 2 JBrowse link 4 74,700,539 77,025,463 RGD:7240710
RGD:8554872
G Tpk1 thiamin pyrophosphokinase 1 JBrowse link 4 72,792,252 73,174,179 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    syndrome 5135
      Pitt-Hopkins syndrome 4
        cortical dysplasia-focal epilepsy syndrome 2
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          brain disease 7549
            disease of mental health 5500
              developmental disorder of mental health 2691
                specific developmental disorder 1858
                  intellectual disability 1687
                    Pitt-Hopkins syndrome 4
                      cortical dysplasia-focal epilepsy syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.