{
    "disease_id": "DOID:0061041",
    "recommended_name": {
        "id": "DOID:0061041",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061041",
        "name": "autosomal dominant intellectual developmental disorder 68",
        "description": "An autosomal dominant intellectual developmental disorder characterized by developmental delay/intellectual disability, primary autosomal recessive microcephaly, poor growth, feeding difficulties, and dysmorphic features that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0030969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030969",
            "name": "intellectual developmental disorder, autosomal dominant 68",
            "description": ""
        },
        {
            "id": "MONDO:0030969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030969",
            "name": "MRD68",
            "description": ""
        },
        {
            "id": "MONDO:0030969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030969",
            "name": "intellectual developmental disorder, autosomal dominant 68",
            "description": ""
        },
        {
            "id": "MONDO:0030969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030969",
            "name": "mental retardation, autosomal dominant 68",
            "description": ""
        },
        {
            "id": "MIM:619934",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619934",
            "name": "Intellectual developmental disorder, autosomal dominant 68",
            "description": "Intellectual developmental disorder, autosomal dominant 68"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061041"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061041",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061041",
            "categories": []
        },
        {
            "id": "MONDO:0030969",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030969",
            "categories": []
        },
        {
            "id": "MIM:619934",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619934",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F8W580-1",
            "uniprot_ac": "F8W580",
            "uniprot_id": "F8W580_DANRE",
            "refseq_ac": "XP_002664717",
            "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 2B isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kmt2bb",
                    "type": "recommended"
                },
                {
                    "name": "kmt2bb",
                    "type": "synonym"
                }
            ],
            "record_id": "F8W580-1",
            "evidence": [
                {
                    "id": "0061041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58I022-1",
            "uniprot_ac": "A0AC58I022",
            "uniprot_id": "A0AC58I022_DANRE",
            "refseq_ac": "XP_073787587",
            "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 2B isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kmt2ba",
                    "type": "recommended"
                },
                {
                    "name": "kmt2ba",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58I022-1",
            "evidence": [
                {
                    "id": "0061041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08550-1",
            "uniprot_ac": "O08550",
            "uniprot_id": "KMT2B_MOUSE",
            "refseq_ac": "NP_083550",
            "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 2B",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.364",
                    "type": "synonym"
                },
                {
                    "name": "Lysine N-methyltransferase 2B",
                    "type": "synonym"
                },
                {
                    "name": "Myeloid/lymphoid or mixed-lineage leukemia protein 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Trithorax homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "WBP-7",
                    "type": "synonym"
                },
                {
                    "name": "WW domain binding protein 7",
                    "type": "synonym"
                },
                {
                    "name": "WW domain-binding protein 7",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase 2B isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase 2B",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase MLL4",
                    "type": "synonym"
                },
                {
                    "name": "lysine N-methyltransferase 2B",
                    "type": "synonym"
                },
                {
                    "name": "mixed lineage leukemia 2",
                    "type": "synonym"
                },
                {
                    "name": "myeloid/lymphoid or mixed-lineage leukemia protein 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "trithorax homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kmt2b",
                    "type": "recommended"
                },
                {
                    "name": "2610014H22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kmt2b",
                    "type": "synonym"
                },
                {
                    "name": "Mll2",
                    "type": "synonym"
                },
                {
                    "name": "Trx2",
                    "type": "synonym"
                },
                {
                    "name": "Wbp7",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0304",
                    "type": "synonym"
                }
            ],
            "record_id": "O08550-1",
            "evidence": [
                {
                    "id": "0061041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UMN6-1",
            "uniprot_ac": "Q9UMN6",
            "uniprot_id": "KMT2B_HUMAN",
            "refseq_ac": "NP_055542",
            "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 2B",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.364",
                    "type": "synonym"
                },
                {
                    "name": "Lysine N-methyltransferase 2B",
                    "type": "synonym"
                },
                {
                    "name": "Myeloid/lymphoid or mixed-lineage leukemia protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Trithorax homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "WBP-7",
                    "type": "synonym"
                },
                {
                    "name": "WW domain binding protein 7",
                    "type": "synonym"
                },
                {
                    "name": "WW domain-binding protein 7",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase 2B",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase MLL4",
                    "type": "synonym"
                },
                {
                    "name": "lysine (K)-specific methyltransferase 2B",
                    "type": "synonym"
                },
                {
                    "name": "mixed lineage leukemia gene homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4",
                    "type": "synonym"
                },
                {
                    "name": "myeloid/lymphoid or mixed-lineage leukemia protein 4",
                    "type": "synonym"
                },
                {
                    "name": "trithorax homologue 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KMT2B",
                    "type": "recommended"
                },
                {
                    "name": "CXXC10",
                    "type": "synonym"
                },
                {
                    "name": "DYT28",
                    "type": "synonym"
                },
                {
                    "name": "HRX2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0304",
                    "type": "synonym"
                },
                {
                    "name": "KMT2B",
                    "type": "synonym"
                },
                {
                    "name": "MLL1B",
                    "type": "synonym"
                },
                {
                    "name": "MLL2",
                    "type": "synonym"
                },
                {
                    "name": "MLL4",
                    "type": "synonym"
                },
                {
                    "name": "MRD68",
                    "type": "synonym"
                },
                {
                    "name": "TRX2",
                    "type": "synonym"
                },
                {
                    "name": "WBP-7",
                    "type": "synonym"
                },
                {
                    "name": "WBP7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UMN6-1",
            "evidence": [
                {
                    "id": "619934",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619934"
                },
                {
                    "id": "0061041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K1E3-1",
            "uniprot_ac": "A0A0G2K1E3",
            "uniprot_id": "A0A0G2K1E3_RAT",
            "refseq_ac": "NP_001414070",
            "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 2B",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.364",
                    "type": "synonym"
                },
                {
                    "name": "Trithorax homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "WW domain binding protein 7",
                    "type": "synonym"
                },
                {
                    "name": "WW domain-binding protein 7",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase 2B-like",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase 2B",
                    "type": "synonym"
                },
                {
                    "name": "lysine (K)-specific methyltransferase 2B",
                    "type": "synonym"
                },
                {
                    "name": "myeloid/lymphoid or mixed-lineage leukemia 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kmt2b",
                    "type": "recommended"
                },
                {
                    "name": "Kmt2b",
                    "type": "synonym"
                },
                {
                    "name": "Mll4",
                    "type": "synonym"
                },
                {
                    "name": "RGD1308331",
                    "type": "synonym"
                },
                {
                    "name": "Wbp7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K1E3-1",
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                {
                    "id": "0061041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20659-1",
            "uniprot_ac": "P20659",
            "uniprot_id": "TRX_DROME",
            "refseq_ac": "NP_001014621",
            "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 trithorax",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.355",
                    "type": "synonym"
                },
                {
                    "name": "CG8651-PE",
                    "type": "synonym"
                },
                {
                    "name": "Cysteine methyltransferase KMT2A",
                    "type": "synonym"
                },
                {
                    "name": "Lysine N-methyltransferase 2A",
                    "type": "synonym"
                },
                {
                    "name": "regulator of bithorax",
                    "type": "synonym"
                },
                {
                    "name": "trithorax, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "trithorax",
                    "type": "synonym"
                },
                {
                    "name": "trx-PE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "trx",
                    "type": "recommended"
                },
                {
                    "name": "4720",
                    "type": "synonym"
                },
                {
                    "name": "4733",
                    "type": "synonym"
                },
                {
                    "name": "CG8651",
                    "type": "synonym"
                },
                {
                    "name": "DMTRXIII",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8651",
                    "type": "synonym"
                },
                {
                    "name": "KMT2A",
                    "type": "synonym"
                },
                {
                    "name": "NR0A5",
                    "type": "synonym"
                },
                {
                    "name": "R-bx",
                    "type": "synonym"
                },
                {
                    "name": "Rg-bx",
                    "type": "synonym"
                },
                {
                    "name": "TRX",
                    "type": "synonym"
                },
                {
                    "name": "TrX",
                    "type": "synonym"
                },
                {
                    "name": "Trx-C",
                    "type": "synonym"
                },
                {
                    "name": "Trx-G",
                    "type": "synonym"
                },
                {
                    "name": "Trx/MLL",
                    "type": "synonym"
                },
                {
                    "name": "TrxG",
                    "type": "synonym"
                },
                {
                    "name": "Trx",
                    "type": "synonym"
                },
                {
                    "name": "l(3)bx[v]",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j14A6",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j3A2",
                    "type": "synonym"
                },
                {
                    "name": "l(3)s5452",
                    "type": "synonym"
                },
                {
                    "name": "tqrx",
                    "type": "synonym"
                },
                {
                    "name": "trx-g",
                    "type": "synonym"
                },
                {
                    "name": "trxG",
                    "type": "synonym"
                },
                {
                    "name": "trxI and trxII",
                    "type": "synonym"
                },
                {
                    "name": "trx",
                    "type": "synonym"
                }
            ],
            "record_id": "P20659-1",
            "evidence": [
                {
                    "id": "0061041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061041"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061041"
}