{
    "disease_id": "DOID:0080426",
    "recommended_name": {
        "id": "DOID:0080426",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080426",
        "name": "developmental and epileptic encephalopathy 63",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16."
    },
    "synonyms": [
        {
            "id": "DOID:0080426",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080426",
            "name": "DEE63",
            "description": ""
        },
        {
            "id": "DOID:0080426",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080426",
            "name": "early infantile epileptic encephalopathy 63",
            "description": ""
        },
        {
            "id": "MONDO:0033372",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033372",
            "name": "developmental and epileptic encephalopathy, 63",
            "description": ""
        },
        {
            "id": "MONDO:0033372",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033372",
            "name": "DEE63",
            "description": ""
        },
        {
            "id": "MONDO:0033372",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033372",
            "name": "EIEE63",
            "description": ""
        },
        {
            "id": "MONDO:0033372",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033372",
            "name": "developmental and epileptic encephalopathy 63",
            "description": ""
        },
        {
            "id": "MONDO:0033372",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033372",
            "name": "epileptic encephalopathy, early infantile, 63",
            "description": ""
        },
        {
            "id": "MIM:617976",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617976",
            "name": "Developmental and epileptic encephalopathy 63",
            "description": "Developmental and epileptic encephalopathy 63"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080426"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080426",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080426",
            "categories": []
        },
        {
            "id": "MONDO:0033372",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033372",
            "categories": []
        },
        {
            "id": "MIM:617976",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617976",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P63040-1",
            "uniprot_ac": "P63040",
            "uniprot_id": "CPLX1_MOUSE",
            "refseq_ac": "NP_031782",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complexin-1",
                    "type": "recommended"
                },
                {
                    "name": "921-S",
                    "type": "synonym"
                },
                {
                    "name": "CPX I",
                    "type": "synonym"
                },
                {
                    "name": "Complexin I",
                    "type": "synonym"
                },
                {
                    "name": "Synaphin-2",
                    "type": "synonym"
                },
                {
                    "name": "complexin I",
                    "type": "synonym"
                },
                {
                    "name": "complexin-1",
                    "type": "synonym"
                },
                {
                    "name": "synaphin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cplx1",
                    "type": "recommended"
                },
                {
                    "name": "921-S",
                    "type": "synonym"
                },
                {
                    "name": "Cplx1",
                    "type": "synonym"
                }
            ],
            "record_id": "P63040-1",
            "evidence": [
                {
                    "id": "0080426",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080426"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14810-1",
            "uniprot_ac": "O14810",
            "uniprot_id": "CPLX1_HUMAN",
            "refseq_ac": "NP_006642",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complexin-1",
                    "type": "recommended"
                },
                {
                    "name": "CPX I",
                    "type": "synonym"
                },
                {
                    "name": "Complexin I",
                    "type": "synonym"
                },
                {
                    "name": "Synaphin-2",
                    "type": "synonym"
                },
                {
                    "name": "complexin I",
                    "type": "synonym"
                },
                {
                    "name": "complexin-1",
                    "type": "synonym"
                },
                {
                    "name": "synaphin 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CPLX1",
                    "type": "recommended"
                },
                {
                    "name": "CPLX1",
                    "type": "synonym"
                },
                {
                    "name": "CPX-I",
                    "type": "synonym"
                },
                {
                    "name": "CPX1",
                    "type": "synonym"
                },
                {
                    "name": "DEE63",
                    "type": "synonym"
                },
                {
                    "name": "EIEE63",
                    "type": "synonym"
                }
            ],
            "record_id": "O14810-1",
            "evidence": [
                {
                    "id": "617976",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617976"
                },
                {
                    "id": "0080426",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080426"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63041-1",
            "uniprot_ac": "P63041",
            "uniprot_id": "CPLX1_RAT",
            "refseq_ac": "NP_074055",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complexin-1",
                    "type": "recommended"
                },
                {
                    "name": "CPX I",
                    "type": "synonym"
                },
                {
                    "name": "Complexin I",
                    "type": "synonym"
                },
                {
                    "name": "Synaphin-2",
                    "type": "synonym"
                },
                {
                    "name": "complexin I",
                    "type": "synonym"
                },
                {
                    "name": "complexin-1",
                    "type": "synonym"
                },
                {
                    "name": "synaphin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cplx1",
                    "type": "recommended"
                },
                {
                    "name": "Cplx1",
                    "type": "synonym"
                }
            ],
            "record_id": "P63041-1",
            "evidence": [
                {
                    "id": "0080426",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080426"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51882-1",
            "uniprot_ac": "P51882",
            "uniprot_id": "CD5_RAT",
            "refseq_ac": "NP_062168",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "T-cell surface glycoprotein CD5",
                    "type": "recommended"
                },
                {
                    "name": "CD5 antigen",
                    "type": "synonym"
                },
                {
                    "name": "Lymphocyte antigen CD5",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein CD5 precursor",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein CD5-like",
                    "type": "synonym"
                },
                {
                    "name": "T-cell surface glycoprotein CD5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cd5",
                    "type": "recommended"
                },
                {
                    "name": "Cd5",
                    "type": "synonym"
                },
                {
                    "name": "LOC100911215",
                    "type": "synonym"
                }
            ],
            "record_id": "P51882-1",
            "evidence": [
                {
                    "id": "0080426",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080426"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IPM8-1",
            "uniprot_ac": "Q8IPM8",
            "uniprot_id": "CPLX_DROME",
            "refseq_ac": "NP_001014602",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complexin",
                    "type": "recommended"
                },
                {
                    "name": "CG32490-PK",
                    "type": "synonym"
                },
                {
                    "name": "complexin, isoform K",
                    "type": "synonym"
                },
                {
                    "name": "complexin",
                    "type": "synonym"
                },
                {
                    "name": "cpx-PK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cpx",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH27718",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:HL04936",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:RH26459",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:RH31085",
                    "type": "synonym"
                },
                {
                    "name": "CG32490",
                    "type": "synonym"
                },
                {
                    "name": "CPX",
                    "type": "synonym"
                },
                {
                    "name": "Cpx",
                    "type": "synonym"
                },
                {
                    "name": "DmCpx",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32490",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32490",
                    "type": "synonym"
                },
                {
                    "name": "cpx",
                    "type": "synonym"
                },
                {
                    "name": "dmCplx",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IPM8-1",
            "evidence": [
                {
                    "id": "0080426",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080426"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080426"
}