{
    "disease_id": "DOID:0090130",
    "recommended_name": {
        "id": "DOID:0090130",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090130",
        "name": "cortical dysplasia-focal epilepsy syndrome",
        "description": "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."
    },
    "synonyms": [
        {
            "id": "DOID:0090130",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090130",
            "name": "CDFE syndrome",
            "description": ""
        },
        {
            "id": "DOID:0090130",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090130",
            "name": "CDFES",
            "description": ""
        },
        {
            "id": "DOID:0090130",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090130",
            "name": "PTHSL1",
            "description": ""
        },
        {
            "id": "DOID:0090130",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090130",
            "name": "Pitt-Hopkins-like syndrome-1",
            "description": ""
        },
        {
            "id": "MONDO:0012400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012400",
            "name": "cortical dysplasia-focal epilepsy syndrome",
            "description": "An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder."
        },
        {
            "id": "MONDO:0012400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012400",
            "name": "CDFE syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012400",
            "name": "CDFES",
            "description": ""
        },
        {
            "id": "MONDO:0012400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012400",
            "name": "Pitt-Hopkins like syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0012400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012400",
            "name": "cortical dysplasia-focal epilepsy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012400",
            "name": "PTHSL1",
            "description": ""
        },
        {
            "id": "MIM:610042",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610042",
            "name": "Pitt-Hopkins-like syndrome 1",
            "description": "Pitt-Hopkins-like syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090130"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090130",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090130",
            "categories": []
        },
        {
            "id": "MONDO:0012400",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012400",
            "categories": []
        },
        {
            "id": "MIM:610042",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610042",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TGU6-1",
            "uniprot_ac": "A0AB32TGU6",
            "uniprot_id": "A0AB32TGU6_DANRE",
            "refseq_ac": "XP_068073187",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Contactin-associated protein-like 2a isoform X2",
                    "type": "synonym"
                },
                {
                    "name": "contactin-associated protein-like 2a isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cntnap2a",
                    "type": "recommended"
                },
                {
                    "name": "Caspr2a",
                    "type": "synonym"
                },
                {
                    "name": "cntnap2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TGU6-1",
            "evidence": [
                {
                    "id": "0090130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CPW0-1",
            "uniprot_ac": "Q9CPW0",
            "uniprot_id": "CNTP2_MOUSE",
            "refseq_ac": "NP_001004357",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Contactin-associated protein-like 2",
                    "type": "recommended"
                },
                {
                    "name": "Cell recognition molecule Caspr2",
                    "type": "synonym"
                },
                {
                    "name": "cell recognition molecule Caspr2",
                    "type": "synonym"
                },
                {
                    "name": "contactin-associated protein-like 2 isoform a precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cntnap2",
                    "type": "recommended"
                },
                {
                    "name": "5430425M22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Caspr2",
                    "type": "synonym"
                },
                {
                    "name": "Cntnap2",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0868",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0868",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CPW0-1",
            "evidence": [
                {
                    "id": "0090130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UHC6-1",
            "uniprot_ac": "Q9UHC6",
            "uniprot_id": "CNTP2_HUMAN",
            "refseq_ac": "NP_054860",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Contactin-associated protein-like 2",
                    "type": "recommended"
                },
                {
                    "name": "Cell recognition molecule Caspr2",
                    "type": "synonym"
                },
                {
                    "name": "cell recognition molecule Caspr2",
                    "type": "synonym"
                },
                {
                    "name": "contactin associated protein like 2",
                    "type": "synonym"
                },
                {
                    "name": "contactin-associated protein-like 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "homolog of Drosophila neurexin IV",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNTNAP2",
                    "type": "recommended"
                },
                {
                    "name": "AUTS15",
                    "type": "synonym"
                },
                {
                    "name": "CASPR2",
                    "type": "synonym"
                },
                {
                    "name": "CDFE",
                    "type": "synonym"
                },
                {
                    "name": "CNTNAP2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0868",
                    "type": "synonym"
                },
                {
                    "name": "NRXN4",
                    "type": "synonym"
                },
                {
                    "name": "PTHSL1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UHC6-1",
            "evidence": [
                {
                    "id": "610042",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610042"
                },
                {
                    "id": "0090130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GH02-1",
            "uniprot_ac": "A0A8I6GH02",
            "uniprot_id": "A0A8I6GH02_RAT",
            "refseq_ac": "NP_001414577",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Contactin associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "contactin associated protein-like 2",
                    "type": "synonym"
                },
                {
                    "name": "contactin-associated protein-like 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "contactin-associated protein-like 2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0868 protein-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cntnap2",
                    "type": "recommended"
                },
                {
                    "name": "Cntnap2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6GH02-1",
            "evidence": [
                {
                    "id": "0090130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090130"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q94887-1",
            "uniprot_ac": "Q94887",
            "uniprot_id": "NRX4_DROME",
            "refseq_ac": "NP_524034",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Neurexin-4",
                    "type": "recommended"
                },
                {
                    "name": "CG6827-PA",
                    "type": "synonym"
                },
                {
                    "name": "Neurexin IV",
                    "type": "synonym"
                },
                {
                    "name": "Neurexin-4",
                    "type": "synonym"
                },
                {
                    "name": "Neurexin-IV",
                    "type": "synonym"
                },
                {
                    "name": "Nrx-IV-PA",
                    "type": "synonym"
                },
                {
                    "name": "neurexin 4",
                    "type": "synonym"
                },
                {
                    "name": "neurexin IV, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "neurexin IV",
                    "type": "synonym"
                },
                {
                    "name": "neurexinIV",
                    "type": "synonym"
                },
                {
                    "name": "neurexin",
                    "type": "synonym"
                },
                {
                    "name": "rose-gespleten region interval 23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nrx-IV",
                    "type": "recommended"
                },
                {
                    "name": "CG6827",
                    "type": "synonym"
                },
                {
                    "name": "CG682",
                    "type": "synonym"
                },
                {
                    "name": "CNTNAP2",
                    "type": "synonym"
                },
                {
                    "name": "CT21123",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6827",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6827",
                    "type": "synonym"
                },
                {
                    "name": "Dnrx",
                    "type": "synonym"
                },
                {
                    "name": "NRX IV",
                    "type": "synonym"
                },
                {
                    "name": "NRX",
                    "type": "synonym"
                },
                {
                    "name": "Nrx IV",
                    "type": "synonym"
                },
                {
                    "name": "Nrx-IV",
                    "type": "synonym"
                },
                {
                    "name": "Nrx4",
                    "type": "synonym"
                },
                {
                    "name": "NrxIV",
                    "type": "synonym"
                },
                {
                    "name": "Nrx",
                    "type": "synonym"
                },
                {
                    "name": "Nx IV",
                    "type": "synonym"
                },
                {
                    "name": "l(3)68Ff",
                    "type": "synonym"
                },
                {
                    "name": "l(3)rsg23",
                    "type": "synonym"
                },
                {
                    "name": "neurexin",
                    "type": "synonym"
                },
                {
                    "name": "nrx IV",
                    "type": "synonym"
                },
                {
                    "name": "nrx-IV",
                    "type": "synonym"
                },
                {
                    "name": "nrx-iv",
                    "type": "synonym"
                },
                {
                    "name": "nrx4",
                    "type": "synonym"
                },
                {
                    "name": "nrxIV",
                    "type": "synonym"
                },
                {
                    "name": "nrx",
                    "type": "synonym"
                },
                {
                    "name": "rsg23",
                    "type": "synonym"
                }
            ],
            "record_id": "Q94887-1",
            "evidence": [
                {
                    "id": "0090130",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090130"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090130"
}