{
    "disease_id": "DOID:0080598",
    "recommended_name": {
        "id": "DOID:0080598",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080598",
        "name": "Kleefstra syndrome 2",
        "description": "A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36."
    },
    "synonyms": [
        {
            "id": "MONDO:0054701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054701",
            "name": "Kleefstra syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0054701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054701",
            "name": "Kleefstra syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0054701",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054701",
            "name": "KLEFS2",
            "description": ""
        },
        {
            "id": "MIM:617768",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617768",
            "name": "Kleefstra syndrome 2",
            "description": "Kleefstra syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080598"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080598",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080598",
            "categories": []
        },
        {
            "id": "MONDO:0054701",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054701",
            "categories": []
        },
        {
            "id": "MIM:617768",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617768",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3B7B2-1",
            "uniprot_ac": "A0A8M3B7B2",
            "uniprot_id": "A0A8M3B7B2_DANRE",
            "refseq_ac": "XP_009296384",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "[histone H3]-lysine(4) N-methyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.364",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase 2C isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kmt2cb",
                    "type": "recommended"
                },
                {
                    "name": "kmt2cb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B7B2-1",
            "evidence": [
                {
                    "id": "0080598",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080598"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2B9E0-1",
            "uniprot_ac": "A0A8M2B9E0",
            "uniprot_id": "A0A8M2B9E0_DANRE",
            "refseq_ac": "XP_005162602",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase 2C",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.364",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase 2C isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kmt2ca",
                    "type": "recommended"
                },
                {
                    "name": "kmt2ca",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B9E0-1",
            "evidence": [
                {
                    "id": "0080598",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080598"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3B696-1",
            "uniprot_ac": "A0A8M3B696",
            "uniprot_id": "A0A8M3B696_DANRE",
            "refseq_ac": "XP_009295228",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase 2C",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.364",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase 2D isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kmt2d",
                    "type": "recommended"
                },
                {
                    "name": "kmt2d",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B696-1",
            "evidence": [
                {
                    "id": "0080598",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080598"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BRH4-1",
            "uniprot_ac": "Q8BRH4",
            "uniprot_id": "KMT2C_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase 2C",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.364",
                    "type": "synonym"
                },
                {
                    "name": "Lysine N-methyltransferase 2C",
                    "type": "synonym"
                },
                {
                    "name": "Myeloid/lymphoid or mixed-lineage leukemia protein 3 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kmt2c",
                    "type": "recommended"
                },
                {
                    "name": "Mll3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BRH4-1",
            "evidence": [
                {
                    "id": "0080598",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080598"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PDK2-1",
            "uniprot_ac": "Q6PDK2",
            "uniprot_id": "KMT2D_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase 2D",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.364",
                    "type": "synonym"
                },
                {
                    "name": "ALL1-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Lysine N-methyltransferase 2D",
                    "type": "synonym"
                },
                {
                    "name": "Myeloid/lymphoid or mixed-lineage leukemia protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kmt2d",
                    "type": "recommended"
                },
                {
                    "name": "Mll2",
                    "type": "synonym"
                },
                {
                    "name": "Mll4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PDK2-1",
            "evidence": [
                {
                    "id": "0080598",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080598"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NEZ4-1",
            "uniprot_ac": "Q8NEZ4",
            "uniprot_id": "KMT2C_HUMAN",
            "refseq_ac": "NP_733751",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase 2C",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.364",
                    "type": "synonym"
                },
                {
                    "name": "ALR-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Homologous to ALR protein",
                    "type": "synonym"
                },
                {
                    "name": "Lysine N-methyltransferase 2C",
                    "type": "synonym"
                },
                {
                    "name": "Myeloid/lymphoid or mixed-lineage leukemia protein 3",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase 2C",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase MLL3",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase, H3 lysine-4 specific",
                    "type": "synonym"
                },
                {
                    "name": "homologous to ALR protein",
                    "type": "synonym"
                },
                {
                    "name": "lysine (K)-specific methyltransferase 2C",
                    "type": "synonym"
                },
                {
                    "name": "myeloid/lymphoid or mixed-lineage leukemia protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KMT2C",
                    "type": "recommended"
                },
                {
                    "name": "HALR",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1506",
                    "type": "synonym"
                },
                {
                    "name": "KLEFS2",
                    "type": "synonym"
                },
                {
                    "name": "KMT2C",
                    "type": "synonym"
                },
                {
                    "name": "MLL3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NEZ4-1",
            "evidence": [
                {
                    "id": "617768",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617768"
                },
                {
                    "id": "0080598",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080598"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LYY3-1",
            "uniprot_ac": "A0ABK0LYY3",
            "uniprot_id": "A0ABK0LYY3_RAT",
            "refseq_ac": "XP_038964897",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase 2C",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.364",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase 2C isoform X7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kmt2c",
                    "type": "recommended"
                },
                {
                    "name": "Kmt2c",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LYY3-1",
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                {
                    "id": "0080598",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080598"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1H0-1",
            "uniprot_ac": "Q9W1H0",
            "uniprot_id": "Q9W1H0_DROME",
            "refseq_ac": "NP_611847",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "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",
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                {
                    "id": "0080598",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080598"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IRW8-1",
            "uniprot_ac": "Q8IRW8",
            "uniprot_id": "TRR_DROME",
            "refseq_ac": "NP_525040",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "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"
                }
            ],
            "record_id": "Q8IRW8-1",
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                {
                    "id": "0080598",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080598"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14686-1",
            "uniprot_ac": "O14686",
            "uniprot_id": "KMT2D_HUMAN",
            "refseq_ac": "NP_003473",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase 2D",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.364",
                    "type": "synonym"
                },
                {
                    "name": "ALL1-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Kabuki make-up syndrome",
                    "type": "synonym"
                },
                {
                    "name": "Lysine N-methyltransferase 2D",
                    "type": "synonym"
                },
                {
                    "name": "Myeloid/lymphoid or mixed-lineage leukemia protein 2",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase 2D",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase MLL2",
                    "type": "synonym"
                },
                {
                    "name": "lysine (K)-specific methyltransferase 2D",
                    "type": "synonym"
                },
                {
                    "name": "lysine N-methyltransferase 2D",
                    "type": "synonym"
                },
                {
                    "name": "myeloid/lymphoid or mixed-lineage leukemia 2",
                    "type": "synonym"
                },
                {
                    "name": "trinucleotide repeat containing 21",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KMT2D",
                    "type": "recommended"
                },
                {
                    "name": "AAD10",
                    "type": "synonym"
                },
                {
                    "name": "ALR",
                    "type": "synonym"
                },
                {
                    "name": "BCAHH",
                    "type": "synonym"
                },
                {
                    "name": "CAGL114",
                    "type": "synonym"
                },
                {
                    "name": "KABUK1",
                    "type": "synonym"
                },
                {
                    "name": "KMS",
                    "type": "synonym"
                },
                {
                    "name": "KMT2D",
                    "type": "synonym"
                },
                {
                    "name": "MLL2",
                    "type": "synonym"
                },
                {
                    "name": "MLL4",
                    "type": "synonym"
                },
                {
                    "name": "TNRC21",
                    "type": "synonym"
                }
            ],
            "record_id": "O14686-1",
            "evidence": [
                {
                    "id": "0080598",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080598"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080598"
}