{
    "disease_id": "DOID:0060473",
    "recommended_name": {
        "id": "DOID:0060473",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060473",
        "name": "Kabuki syndrome",
        "description": "A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects."
    },
    "synonyms": [
        {
            "id": "DOID:0060473",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060473",
            "name": "KMS",
            "description": ""
        },
        {
            "id": "DOID:0060473",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060473",
            "name": "Kabuki make up syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060473",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060473",
            "name": "Niikawa-Kuroki syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007843",
            "name": "Kabuki syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0007843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007843",
            "name": "Kabuki syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0007843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007843",
            "name": "Kabuki syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007843",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007843",
            "name": "KABUK1",
            "description": ""
        },
        {
            "id": "MONDO:0010465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010465",
            "name": "Kabuki syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0010465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010465",
            "name": "Kabuki syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0010465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010465",
            "name": "Kabuki syndrome 2, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010465",
            "name": "Kabuki syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010465",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010465",
            "name": "KABUK2",
            "description": ""
        },
        {
            "id": "MIM:147920",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/147920",
            "name": "Kabuki syndrome 1",
            "description": "Kabuki syndrome 1"
        },
        {
            "id": "MIM:300867",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300867",
            "name": "Kabuki syndrome 2",
            "description": "Kabuki syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060473"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060473",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060473",
            "categories": []
        },
        {
            "id": "MONDO:0007843",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007843",
            "categories": []
        },
        {
            "id": "MONDO:0010465",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010465",
            "categories": []
        },
        {
            "id": "MIM:147920",
            "database": "MIM",
            "url": "https://www.omim.org/entry/147920",
            "categories": []
        },
        {
            "id": "MIM:300867",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300867",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "F1Q597-1",
            "uniprot_ac": "F1Q597",
            "uniprot_id": "F1Q597_DANRE",
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            "species": [
                {
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "[histone H3]-trimethyl-L-lysine(27) demethylase",
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                {
                    "name": "1.14.11.68",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific demethylase 6A isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "kdm6a",
                    "type": "recommended"
                },
                {
                    "name": "kdm6a",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060473",
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                }
            ]
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            "uniprot_canonical_ac": "A0A8M3B696-1",
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                    "name": "Danio rerio",
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                }
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                {
                    "name": "Histone-lysine N-methyltransferase 2C",
                    "type": "recommended"
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                {
                    "name": "2.1.1.364",
                    "type": "synonym"
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                    "name": "histone-lysine N-methyltransferase 2D isoform X1",
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                    "name": "kmt2d",
                    "type": "recommended"
                },
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                    "name": "kmt2d",
                    "type": "synonym"
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                    "id": "0060473",
                    "database": "AGR",
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                }
            ]
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                    "name": "Danio rerio",
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                }
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                {
                    "name": "[histone H3]-trimethyl-L-lysine(27) demethylase",
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                    "name": "1.14.11.68",
                    "type": "synonym"
                },
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                    "name": "lysine (K)-specific demethylase 6A, like isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitously transcribed tetratricopeptide repeat, X chromosome like 1",
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                },
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                    "name": "utx1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kdm6al",
                    "type": "recommended"
                },
                {
                    "name": "kdm6al",
                    "type": "synonym"
                },
                {
                    "name": "utxl1",
                    "type": "synonym"
                },
                {
                    "name": "uty",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158313",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BG42-1",
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                {
                    "id": "0060473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060473"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PDK2-1",
            "uniprot_ac": "Q6PDK2",
            "uniprot_id": "KMT2D_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase 2D",
                    "type": "recommended"
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                {
                    "name": "2.1.1.364",
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                },
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                    "name": "ALL1-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Lysine N-methyltransferase 2D",
                    "type": "synonym"
                },
                {
                    "name": "Myeloid/lymphoid or mixed-lineage leukemia protein 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Kmt2d",
                    "type": "recommended"
                },
                {
                    "name": "Mll2",
                    "type": "synonym"
                },
                {
                    "name": "Mll4",
                    "type": "synonym"
                }
            ],
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                    "id": "0060473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060473"
                }
            ]
        },
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            "uniprot_canonical_ac": "O70546-1",
            "uniprot_ac": "O70546",
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                    "name": "Mus musculus",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Lysine-specific demethylase 6A",
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                    "name": "1.14.11.68",
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                    "name": "Histone demethylase UTX",
                    "type": "synonym"
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                    "name": "Ubiquitously transcribed TPR protein on the X chromosome",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitously transcribed X chromosome tetratricopeptide repeat protein",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-trimethyl-L-lysine(27) demethylase 6A",
                    "type": "synonym"
                },
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                    "name": "histone demethylase UTX",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific demethylase 6A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific demethylase 6A",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitously transcribed TPR protein on the X chromosome",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitously transcribed X chromosome tetratricopeptide repeat protein",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitously transcribed tetratricopeptide repeat gene, X chromosome",
                    "type": "synonym"
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            ],
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                {
                    "name": "Kdm6a",
                    "type": "recommended"
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                    "name": "Kdm6a",
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                    "name": "Utx",
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                    "id": "0060473",
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            "uniprot_canonical_ac": "O15550-1",
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                    "name": "Homo sapiens",
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                }
            ],
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                    "name": "Lysine-specific demethylase 6A",
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                    "name": "1.14.11.68",
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                {
                    "name": "Histone demethylase UTX",
                    "type": "synonym"
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                {
                    "name": "Ubiquitously-transcribed TPR protein on the X chromosome",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitously-transcribed X chromosome tetratricopeptide repeat protein",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-trimethyl-L-lysine(27) demethylase 6A",
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                    "name": "bA386N14.2 (ubiquitously transcribed X chromosome tetratricopeptide repeat protein (UTX))",
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                    "name": "histone demethylase UTX",
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                    "name": "lysine (K)-specific demethylase 6A",
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                    "name": "lysine-specific demethylase 6A isoform 3",
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                    "name": "ubiquitously-transcribed TPR gene on the X chromosome",
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                    "name": "KDM6A",
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                    "name": "KABUK2",
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                    "name": "KDM6A",
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                    "name": "UTX",
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                    "name": "bA386N14.2",
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                    "id": "300867",
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                {
                    "id": "0060473",
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            "uniprot_canonical_ac": "O14686-1",
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                    "name": "Homo sapiens",
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                    "name": "Histone-lysine N-methyltransferase 2D",
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                {
                    "name": "ALL1-related protein",
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                {
                    "name": "Kabuki make-up syndrome",
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                },
                {
                    "name": "Lysine N-methyltransferase 2D",
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                {
                    "name": "Myeloid/lymphoid or mixed-lineage leukemia protein 2",
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                {
                    "name": "histone-lysine N-methyltransferase 2D",
                    "type": "synonym"
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                {
                    "name": "histone-lysine N-methyltransferase MLL2",
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                {
                    "name": "lysine (K)-specific methyltransferase 2D",
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                {
                    "name": "lysine N-methyltransferase 2D",
                    "type": "synonym"
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                {
                    "name": "myeloid/lymphoid or mixed-lineage leukemia 2",
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                {
                    "name": "trinucleotide repeat containing 21",
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                    "name": "KMT2D",
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                    "name": "AAD10",
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                    "name": "ALR",
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                    "name": "BCAHH",
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                {
                    "name": "CAGL114",
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                    "name": "KABUK1",
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                    "name": "KMS",
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                    "name": "KMT2D",
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                    "name": "MLL2",
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                    "name": "MLL4",
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                    "name": "TNRC21",
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                    "id": "0060473",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060473"
                }
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "name": "Glucose repression mediator protein CYC8",
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                    "name": "transcription regulator CYC8",
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                    "name": "CRT8",
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                    "name": "CYC8",
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                    "name": "SSN6",
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                    "name": "YBR0908",
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                    "id": "0060473",
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                    "name": "lysine (K)-specific demethylase 6A",
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                    "name": "lysine-specific demethylase 6A",
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                    "name": "Kdm6a",
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                    "name": "Kdm6a",
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                    "name": "NEWGENE_1565481",
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                    "id": "0060473",
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                }
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            "uniprot_canonical_ac": "A0A0G2JVD6-1",
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                    "name": "Rattus norvegicus",
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            ],
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                    "name": "Histone-lysine N-methyltransferase 2D",
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                    "name": "2.1.1.364",
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                    "name": "ALL1-related protein",
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                    "name": "Myeloid/lymphoid or mixed-lineage leukemia protein 2",
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                {
                    "name": "histone-lysine N-methyltransferase 2D isoform X11",
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                    "name": "Kmt2d",
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                    "name": "Kmt2d",
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                {
                    "name": "Mll2",
                    "type": "synonym"
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                {
                    "id": "0060473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060473"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VL07-1",
            "uniprot_ac": "Q9VL07",
            "uniprot_id": "Q9VL07_DROME",
            "refseq_ac": "NP_609368",
            "glycoprotein": "yes",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "1.14.11.68",
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                },
                {
                    "name": "CG5640-PA",
                    "type": "synonym"
                },
                {
                    "name": "Utx histone demethylase, isoform A",
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                },
                {
                    "name": "Utx-PA",
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                },
                {
                    "name": "anon-31BCa",
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                },
                {
                    "name": "ubiquitously transcribed X chromosome tetratricopeptide repeat protein",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitously transcribed tetratricopetide repeat gene on the X chromosome",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Utx",
                    "type": "recommended"
                },
                {
                    "name": "CG5640",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5640",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5640",
                    "type": "synonym"
                },
                {
                    "name": "UTX",
                    "type": "synonym"
                },
                {
                    "name": "Utx",
                    "type": "synonym"
                },
                {
                    "name": "anon-31BCa",
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                },
                {
                    "name": "dUTX",
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                },
                {
                    "name": "dUtx",
                    "type": "synonym"
                },
                {
                    "name": "utx",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060473",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060473"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IRW8-1",
            "uniprot_ac": "Q8IRW8",
            "uniprot_id": "TRR_DROME",
            "refseq_ac": "NP_525040",
            "glycoprotein": "yes",
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                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase trr",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.354",
                    "type": "synonym"
                },
                {
                    "name": "CG3848-PC",
                    "type": "synonym"
                },
                {
                    "name": "Lysine N-methyltransferase 2C",
                    "type": "synonym"
                },
                {
                    "name": "Trithorax-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Trithorax-related",
                    "type": "synonym"
                },
                {
                    "name": "Trx-related",
                    "type": "synonym"
                },
                {
                    "name": "trithorax related",
                    "type": "synonym"
                },
                {
                    "name": "trithorax-related protein",
                    "type": "synonym"
                },
                {
                    "name": "trithorax-related, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "trr-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trr",
                    "type": "recommended"
                },
                {
                    "name": "CG3848",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3848",
                    "type": "synonym"
                },
                {
                    "name": "EG:63B12.3",
                    "type": "synonym"
                },
                {
                    "name": "KMT2C",
                    "type": "synonym"
                },
                {
                    "name": "TRR",
                    "type": "synonym"
                },
                {
                    "name": "Trr",
                    "type": "synonym"
                },
                {
                    "name": "anon-2Bb",
                    "type": "synonym"
                },
                {
                    "name": "dmll3/4",
                    "type": "synonym"
                },
                {
                    "name": "trr",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060473"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1H0-1",
            "uniprot_ac": "Q9W1H0",
            "uniprot_id": "Q9W1H0_DROME",
            "refseq_ac": "NP_611847",
            "glycoprotein": "no",
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                {
                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "2.1.1.364",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.370",
                    "type": "synonym"
                },
                {
                    "name": "CG5591-PA",
                    "type": "synonym"
                },
                {
                    "name": "Lost PHDs of trr, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Lpt-PA",
                    "type": "synonym"
                },
                {
                    "name": "cara mitad",
                    "type": "synonym"
                },
                {
                    "name": "lost PHD finger of Trr",
                    "type": "synonym"
                },
                {
                    "name": "lost PHDs of Trr",
                    "type": "synonym"
                },
                {
                    "name": "lost PHDs of trr, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lpt",
                    "type": "recommended"
                },
                {
                    "name": "CG5591",
                    "type": "synonym"
                },
                {
                    "name": "Cara Mitad",
                    "type": "synonym"
                },
                {
                    "name": "Cmi",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5591",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5591",
                    "type": "synonym"
                },
                {
                    "name": "LPT",
                    "type": "synonym"
                },
                {
                    "name": "Lpt",
                    "type": "synonym"
                },
                {
                    "name": "cg5591",
                    "type": "synonym"
                },
                {
                    "name": "cmi",
                    "type": "synonym"
                },
                {
                    "name": "lpt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1H0-1",
            "evidence": [
                {
                    "id": "0060473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060473"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060473"
}