{
    "disease_id": "DOID:0111691",
    "recommended_name": {
        "id": "DOID:0111691",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111691",
        "name": "familial adult myoclonic epilepsy 5",
        "description": "A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111691",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111691",
            "name": "FAME5",
            "description": ""
        },
        {
            "id": "DOID:0111691",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111691",
            "name": "FCMTE5",
            "description": ""
        },
        {
            "id": "DOID:0111691",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111691",
            "name": "familial cortical myoclonic tremor and epilepsy 5",
            "description": ""
        },
        {
            "id": "DOID:0111691",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111691",
            "name": "early-onset epilepsy 5 with or without developmental delay",
            "description": ""
        },
        {
            "id": "MONDO:0014167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014167",
            "name": "epilepsy, familial adult myoclonic, 5",
            "description": "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene."
        },
        {
            "id": "MONDO:0014167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014167",
            "name": "CNTN2 epilepsy, familial adult myoclonic",
            "description": ""
        },
        {
            "id": "MONDO:0014167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014167",
            "name": "epilepsy, familial adult myoclonic caused by mutation in CNTN2",
            "description": ""
        },
        {
            "id": "MONDO:0014167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014167",
            "name": "epilepsy, familial adult myoclonic, 5",
            "description": ""
        },
        {
            "id": "MONDO:0014167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014167",
            "name": "epilepsy, familial adult myoclonic, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014167",
            "name": "epilepsy, myoclonic, familial adult, 5",
            "description": ""
        },
        {
            "id": "MONDO:0014167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014167",
            "name": "FAME5",
            "description": ""
        },
        {
            "id": "MONDO:0014167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014167",
            "name": "cortical myoclonic tremor with epilepsy, familial, 5",
            "description": ""
        },
        {
            "id": "MONDO:0014167",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014167",
            "name": "epilepsy, familial ADULT myoclonic, 5",
            "description": ""
        },
        {
            "id": "MIM:615400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615400",
            "name": "Epilepsy, early-onset, 5, with or without developmental delay",
            "description": "Epilepsy, early-onset, 5, with or without developmental delay"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111691"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111691",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111691",
            "categories": []
        },
        {
            "id": "MONDO:0014167",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014167",
            "categories": []
        },
        {
            "id": "MIM:615400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q61330-1",
            "uniprot_ac": "Q61330",
            "uniprot_id": "CNTN2_MOUSE",
            "refseq_ac": "NP_796103",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Contactin-2",
                    "type": "recommended"
                },
                {
                    "name": "Axonal glycoprotein TAG-1",
                    "type": "synonym"
                },
                {
                    "name": "Axonin-1",
                    "type": "synonym"
                },
                {
                    "name": "TAX-1",
                    "type": "synonym"
                },
                {
                    "name": "Transient axonal glycoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "axonal glycoprotein TAG-1",
                    "type": "synonym"
                },
                {
                    "name": "axonin-1",
                    "type": "synonym"
                },
                {
                    "name": "axonin",
                    "type": "synonym"
                },
                {
                    "name": "contactin-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "transient axonal glycoprotein 1",
                    "type": "synonym"
                }
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            "gene_names": [
                {
                    "name": "Cntn2",
                    "type": "recommended"
                },
                {
                    "name": "Cntn2",
                    "type": "synonym"
                },
                {
                    "name": "D130012K04Rik",
                    "type": "synonym"
                },
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                    "name": "TAG-1",
                    "type": "synonym"
                },
                {
                    "name": "TAG1",
                    "type": "synonym"
                },
                {
                    "name": "Tax",
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                }
            ],
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                    "id": "0111691",
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                }
            ]
        },
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            "uniprot_ac": "Q02246",
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            "refseq_ac": "NP_001333012",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Contactin-2",
                    "type": "recommended"
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                {
                    "name": "Axonal glycoprotein TAG-1",
                    "type": "synonym"
                },
                {
                    "name": "Axonin-1",
                    "type": "synonym"
                },
                {
                    "name": "TAX-1",
                    "type": "synonym"
                },
                {
                    "name": "Transient axonal glycoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "axonal glycoprotein TAG-1",
                    "type": "synonym"
                },
                {
                    "name": "axonin-1 cell adhesion molecule",
                    "type": "synonym"
                },
                {
                    "name": "contactin 2 (axonal)",
                    "type": "synonym"
                },
                {
                    "name": "contactin 2 (transiently expressed)",
                    "type": "synonym"
                },
                {
                    "name": "contactin-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "transient axonal glycoprotein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNTN2",
                    "type": "recommended"
                },
                {
                    "name": "AXT",
                    "type": "synonym"
                },
                {
                    "name": "CNTN2",
                    "type": "synonym"
                },
                {
                    "name": "EPEO5",
                    "type": "synonym"
                },
                {
                    "name": "FAME5",
                    "type": "synonym"
                },
                {
                    "name": "TAG-1",
                    "type": "synonym"
                },
                {
                    "name": "TAG1",
                    "type": "synonym"
                },
                {
                    "name": "TAX1",
                    "type": "synonym"
                },
                {
                    "name": "TAX",
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                }
            ],
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                    "id": "615400",
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                    "id": "0111691",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111691"
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            ]
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        {
            "uniprot_canonical_ac": "P22063-1",
            "uniprot_ac": "P22063",
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            "refseq_ac": "NP_037016",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Contactin-2",
                    "type": "recommended"
                },
                {
                    "name": "Axonal glycoprotein TAG-1",
                    "type": "synonym"
                },
                {
                    "name": "Axonin-1",
                    "type": "synonym"
                },
                {
                    "name": "TAX-1",
                    "type": "synonym"
                },
                {
                    "name": "Transient axonal glycoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "axonal glycoprotein TAG-1",
                    "type": "synonym"
                },
                {
                    "name": "axonin-1",
                    "type": "synonym"
                },
                {
                    "name": "contactin 2 (axonal)",
                    "type": "synonym"
                },
                {
                    "name": "contactin-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "transient axonal glycoprotein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cntn2",
                    "type": "recommended"
                },
                {
                    "name": "Cntn2",
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                },
                {
                    "name": "TAG-1",
                    "type": "synonym"
                },
                {
                    "name": "TAG-564",
                    "type": "synonym"
                },
                {
                    "name": "TAG1",
                    "type": "synonym"
                },
                {
                    "name": "Tax1",
                    "type": "synonym"
                },
                {
                    "name": "Tax",
                    "type": "synonym"
                }
            ],
            "record_id": "P22063-1",
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                    "id": "0111691",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63377-1",
            "uniprot_ac": "Q63377",
            "uniprot_id": "AT1B3_RAT",
            "refseq_ac": "NP_037045",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/potassium-transporting ATPase subunit beta-3",
                    "type": "recommended"
                },
                {
                    "name": "ATPB-3",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, Na+/K+ transporting, beta 3 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, Na+K+ transporting, beta polypeptide 3",
                    "type": "synonym"
                },
                {
                    "name": "Na+/K+ -ATPase beta 3 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sodium/potassium-dependent ATPase subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium-dependent ATPase subunit beta-3",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium-transporting ATPase subunit beta-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp1b3",
                    "type": "recommended"
                },
                {
                    "name": "Atp1b3",
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                {
                    "name": "NKAB3S",
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            ],
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                    "id": "0111691",
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        {
            "uniprot_canonical_ac": "Q9VN14-1",
            "uniprot_ac": "Q9VN14",
            "uniprot_id": "CONT_DROME",
            "refseq_ac": "NP_649461",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Contactin",
                    "type": "recommended"
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                    "name": "CG1084-PA",
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                    "name": "Cont-PA",
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                    "name": "D-Contactin",
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                    "name": "dcontactin",
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                    "name": "CG1084",
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                },
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                    "name": "CT1481",
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                {
                    "name": "D-Axonin",
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                {
                    "name": "DCONT",
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                {
                    "name": "Dmel\\CG1084",
                    "type": "synonym"
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                    "id": "0111691",
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            "uniprot_canonical_ac": "O43524-1",
            "uniprot_ac": "O43524",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Forkhead box protein O3",
                    "type": "recommended"
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                    "name": "AF6q21 protein",
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                },
                {
                    "name": "FOXO3A-",
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                },
                {
                    "name": "Forkhead in rhabdomyosarcoma-like 1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box O3A",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein O3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead box protein O3",
                    "type": "synonym"
                },
                {
                    "name": "forkhead homolog (rhabdomyosarcoma) like 1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead in rhabdomyosarcoma-like 1",
                    "type": "synonym"
                },
                {
                    "name": "forkhead, Drosophila, homolog of, in rhabdomyosarcoma-like 1",
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                    "name": "FOXO3",
                    "type": "recommended"
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                {
                    "name": "AF6q21",
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                },
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                    "name": "FKHRL1P2",
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                {
                    "name": "FKHRL1",
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                },
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                    "name": "FOXO2",
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                    "name": "FOXO3A",
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                {
                    "name": "FOXO3",
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                    "id": "0111691",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111691"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111691"
}