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General Information
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| Term |
cortical dysplasia-focal epilepsy syndrome |
ID (Ontology) |
DOID:0090130 (Human Disease) |
| 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. |
| Also Known As |
"CDFE syndrome" ; "CDFES" ; "Pitt-Hopkins-like syndrome-1" (for all, see Synonyms field below) |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes | Human Disease Models |
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cortical dysplasia-focal epilepsy syndrome | 2 | 1 | for disease ribbon | cortical dysplasia-focal epilepsy syndrome | 2 | -- | model of | cortical dysplasia-focal epilepsy syndrome | 2 | -- |
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Relationships