{
    "disease_id": "DOID:0080430",
    "recommended_name": {
        "id": "DOID:0080430",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080430",
        "name": "developmental and epileptic encephalopathy 65",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33."
    },
    "synonyms": [
        {
            "id": "DOID:0080430",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080430",
            "name": "DEE65",
            "description": ""
        },
        {
            "id": "DOID:0080430",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080430",
            "name": "early infantile epileptic encephalopathy 65",
            "description": ""
        },
        {
            "id": "MONDO:0033374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033374",
            "name": "developmental and epileptic encephalopathy, 65",
            "description": ""
        },
        {
            "id": "MONDO:0033374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033374",
            "name": "DEE65",
            "description": ""
        },
        {
            "id": "MONDO:0033374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033374",
            "name": "EIEE65",
            "description": ""
        },
        {
            "id": "MONDO:0033374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033374",
            "name": "developmental and epileptic encephalopathy 65",
            "description": ""
        },
        {
            "id": "MONDO:0033374",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033374",
            "name": "epileptic encephalopathy, early infantile, 65",
            "description": ""
        },
        {
            "id": "MIM:618008",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618008",
            "name": "Developmental and epileptic encephalopathy 65",
            "description": "Developmental and epileptic encephalopathy 65"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080430"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080430",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080430",
            "categories": []
        },
        {
            "id": "MONDO:0033374",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033374",
            "categories": []
        },
        {
            "id": "MIM:618008",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618008",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5SQX6-1",
            "uniprot_ac": "Q5SQX6",
            "uniprot_id": "CYFP2_MOUSE",
            "refseq_ac": "NP_001239388",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoplasmic FMR1-interacting protein 2",
                    "type": "recommended"
                },
                {
                    "name": "cytoplasmic FMR1-interacting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "p53-inducible protein 121",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyfip2",
                    "type": "recommended"
                },
                {
                    "name": "1500004I01Rik",
                    "type": "synonym"
                },
                {
                    "name": "6430511D02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cyfip2",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1168",
                    "type": "synonym"
                },
                {
                    "name": "Pir121",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1168",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SQX6-1",
            "evidence": [
                {
                    "id": "0080430",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080430"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96F07-1",
            "uniprot_ac": "Q96F07",
            "uniprot_id": "CYFP2_HUMAN",
            "refseq_ac": "NP_001032410",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoplasmic FMR1-interacting protein 2",
                    "type": "recommended"
                },
                {
                    "name": "cytoplasmic FMR1-interacting protein 2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "p53-inducible protein 121",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYFIP2",
                    "type": "recommended"
                },
                {
                    "name": "CYFIP2",
                    "type": "synonym"
                },
                {
                    "name": "DEE65",
                    "type": "synonym"
                },
                {
                    "name": "EIEE65",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1168",
                    "type": "synonym"
                },
                {
                    "name": "PIR121",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96F07-1",
            "evidence": [
                {
                    "id": "618008",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618008"
                },
                {
                    "id": "0080430",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080430"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JT63-1",
            "uniprot_ac": "A0A0G2JT63",
            "uniprot_id": "A0A0G2JT63_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoplasmic FMR1-interacting protein",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyfip1",
                    "type": "recommended"
                },
                {
                    "name": "Cyfip2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2JT63-1",
            "evidence": [
                {
                    "id": "0080430",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080430"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VF87-1",
            "uniprot_ac": "Q9VF87",
            "uniprot_id": "CYFIP_DROME",
            "refseq_ac": "NP_650447",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoplasmic FMR1-interacting protein",
                    "type": "recommended"
                },
                {
                    "name": "CG4931-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cyfip-PA",
                    "type": "synonym"
                },
                {
                    "name": "Specifically Rac1-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic FMR1 interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "specifically Rac1-associated protein 1",
                    "type": "synonym"
                },
                {
                    "name": "specifically, Rac-1 associated protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyfip",
                    "type": "recommended"
                },
                {
                    "name": "CG4931",
                    "type": "synonym"
                },
                {
                    "name": "CYFIP1/2",
                    "type": "synonym"
                },
                {
                    "name": "CYFIP1",
                    "type": "synonym"
                },
                {
                    "name": "CYFIP",
                    "type": "synonym"
                },
                {
                    "name": "Cyfip",
                    "type": "synonym"
                },
                {
                    "name": "DSra-1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4931",
                    "type": "synonym"
                },
                {
                    "name": "PIR121/Sra-1",
                    "type": "synonym"
                },
                {
                    "name": "PIR121",
                    "type": "synonym"
                },
                {
                    "name": "Sra-1/CYFIP",
                    "type": "synonym"
                },
                {
                    "name": "Sra-1",
                    "type": "synonym"
                },
                {
                    "name": "Sra1/PIR121",
                    "type": "synonym"
                },
                {
                    "name": "Sra1",
                    "type": "synonym"
                },
                {
                    "name": "Sra",
                    "type": "synonym"
                },
                {
                    "name": "cyfip",
                    "type": "synonym"
                },
                {
                    "name": "dCYFIP1",
                    "type": "synonym"
                },
                {
                    "name": "dCYFIP",
                    "type": "synonym"
                },
                {
                    "name": "dCyfip",
                    "type": "synonym"
                },
                {
                    "name": "dSra",
                    "type": "synonym"
                },
                {
                    "name": "sra-1",
                    "type": "synonym"
                },
                {
                    "name": "sra1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VF87-1",
            "evidence": [
                {
                    "id": "0080430",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080430"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080430"
}