{
    "disease_id": "DOID:0112203",
    "recommended_name": {
        "id": "DOID:0112203",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112203",
        "name": "developmental and epileptic encephalopathy 67",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12."
    },
    "synonyms": [
        {
            "id": "DOID:0112203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112203",
            "name": "DEE67",
            "description": ""
        },
        {
            "id": "DOID:0112203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112203",
            "name": "early infantile epileptic encephalopathy 67",
            "description": ""
        },
        {
            "id": "MONDO:0029138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029138",
            "name": "developmental and epileptic encephalopathy, 67",
            "description": ""
        },
        {
            "id": "MONDO:0029138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029138",
            "name": "DEE67",
            "description": ""
        },
        {
            "id": "MONDO:0029138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029138",
            "name": "EIEE67",
            "description": ""
        },
        {
            "id": "MONDO:0029138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029138",
            "name": "developmental and epileptic encephalopathy 67",
            "description": ""
        },
        {
            "id": "MONDO:0029138",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029138",
            "name": "epileptic encephalopathy, early infantile, 67",
            "description": ""
        },
        {
            "id": "MIM:618141",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618141",
            "name": "Developmental and epileptic encephalopathy 67",
            "description": "Developmental and epileptic encephalopathy 67"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112203"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112203",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112203",
            "categories": []
        },
        {
            "id": "MONDO:0029138",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029138",
            "categories": []
        },
        {
            "id": "MIM:618141",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618141",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TRJ5-1",
            "uniprot_ac": "A0AB32TRJ5",
            "uniprot_id": "A0AB32TRJ5_DANRE",
            "refseq_ac": "XP_068077483",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA-binding protein SATB",
                    "type": "recommended"
                },
                {
                    "name": "Special AT-rich sequence-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein cut-like 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cux2a",
                    "type": "recommended"
                },
                {
                    "name": "cux2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TRJ5-1",
            "evidence": [
                {
                    "id": "0112203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58G8V1-1",
            "uniprot_ac": "A0AC58G8V1",
            "uniprot_id": "A0AC58G8V1_DANRE",
            "refseq_ac": "XP_073766143",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein cut-like",
                    "type": "recommended"
                },
                {
                    "name": "homeobox protein cut-like 2 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cux2b",
                    "type": "recommended"
                },
                {
                    "name": "cux2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58G8V1-1",
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                {
                    "id": "0112203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70298-1",
            "uniprot_ac": "P70298",
            "uniprot_id": "CUX2_MOUSE",
            "refseq_ac": "NP_001299837",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein cut-like 2",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein Cux-2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein Cux-2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein cut-like 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein cut-like 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cux2",
                    "type": "recommended"
                },
                {
                    "name": "1700051K22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cutl2",
                    "type": "synonym"
                },
                {
                    "name": "Cux-2",
                    "type": "synonym"
                },
                {
                    "name": "Cux2",
                    "type": "synonym"
                }
            ],
            "record_id": "P70298-1",
            "evidence": [
                {
                    "id": "0112203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14529-1",
            "uniprot_ac": "O14529",
            "uniprot_id": "CUX2_HUMAN",
            "refseq_ac": "NP_056082",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein cut-like 2",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein cux-2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein cut-like 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein cut-like 2",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein cux-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CUX2",
                    "type": "recommended"
                },
                {
                    "name": "CDP2",
                    "type": "synonym"
                },
                {
                    "name": "CUTL2",
                    "type": "synonym"
                },
                {
                    "name": "CUX2",
                    "type": "synonym"
                },
                {
                    "name": "DEE67",
                    "type": "synonym"
                },
                {
                    "name": "EIEE67",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0293",
                    "type": "synonym"
                }
            ],
            "record_id": "O14529-1",
            "evidence": [
                {
                    "id": "618141",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618141"
                },
                {
                    "id": "0112203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P34237-1",
            "uniprot_ac": "P34237",
            "uniprot_id": "CASP_YEAST",
            "refseq_ac": "NP_012742",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein CASP",
                    "type": "recommended"
                },
                {
                    "name": "CCAAT displacement transcription factor COY1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COY1",
                    "type": "recommended"
                },
                {
                    "name": "COY1",
                    "type": "synonym"
                }
            ],
            "record_id": "P34237-1",
            "evidence": [
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                    "id": "0112203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LCK9-1",
            "uniprot_ac": "A0ABK0LCK9",
            "uniprot_id": "A0ABK0LCK9_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": "Homeobox protein cut-like",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Cux2",
                    "type": "recommended"
                }
            ],
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                    "id": "0112203",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0112203"
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            ]
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            "uniprot_canonical_ac": "P10180-1",
            "uniprot_ac": "P10180",
            "uniprot_id": "CUT_DROME",
            "refseq_ac": "NP_524764",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
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                    "name": "Homeobox protein cut",
                    "type": "recommended"
                },
                {
                    "name": "CG11387-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cut",
                    "type": "synonym"
                },
                {
                    "name": "ct-PA",
                    "type": "synonym"
                },
                {
                    "name": "cut, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "kinked-femur",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ct",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH10590",
                    "type": "synonym"
                },
                {
                    "name": "CG11387",
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                },
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                    "name": "CT",
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                },
                {
                    "name": "CUT",
                    "type": "synonym"
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                    "name": "Ct",
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                    "name": "Cut",
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                    "name": "Dmel\\CG11387",
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                },
                {
                    "name": "Dmel_CG11387",
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                    "name": "ct",
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                },
                {
                    "name": "kf",
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                },
                {
                    "name": "l(1)7Ba",
                    "type": "synonym"
                },
                {
                    "name": "l(1)7Bb",
                    "type": "synonym"
                },
                {
                    "name": "l(1)VE614",
                    "type": "synonym"
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                    "id": "0112203",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0112203"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112203"
}