{
    "disease_id": "DOID:0061043",
    "recommended_name": {
        "id": "DOID:0061043",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061043",
        "name": "autosomal dominant intellectual developmental disorder 70",
        "description": "An autosomal dominant intellectual developmental disorder characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities that has_material_basis_in a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0859333",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859333",
            "name": "intellectual developmental disorder, autosomal dominant 70",
            "description": ""
        },
        {
            "id": "MIM:620157",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620157",
            "name": "Intellectual developmental disorder, autosomal dominant 70",
            "description": "Intellectual developmental disorder, autosomal dominant 70"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061043"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061043",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061043",
            "categories": []
        },
        {
            "id": "MONDO:0859333",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859333",
            "categories": []
        },
        {
            "id": "MIM:620157",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620157",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B685-1",
            "uniprot_ac": "A0ACD6B685",
            "uniprot_id": "A0ACD6B685_DANRE",
            "refseq_ac": "XP_009290459",
            "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(36) N-trimethyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.359",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase SETD2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "setd2",
                    "type": "recommended"
                },
                {
                    "name": "setd2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B685-1",
            "evidence": [
                {
                    "id": "0061043",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061043"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9Q5F9-1",
            "uniprot_ac": "E9Q5F9",
            "uniprot_id": "SETD2_MOUSE",
            "refseq_ac": "NP_001074809",
            "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 SETD2",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.359",
                    "type": "synonym"
                },
                {
                    "name": "Lysine N-methyltransferase 3A",
                    "type": "synonym"
                },
                {
                    "name": "Protein-lysine N-methyltransferase SETD2",
                    "type": "synonym"
                },
                {
                    "name": "SET domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase SETD2",
                    "type": "synonym"
                },
                {
                    "name": "lysine N-methyltransferase 3A",
                    "type": "synonym"
                },
                {
                    "name": "protein-lysine N-methyltransferase SETD2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Setd2",
                    "type": "recommended"
                },
                {
                    "name": "4921524K10Rik",
                    "type": "synonym"
                },
                {
                    "name": "KMT3A",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1732",
                    "type": "synonym"
                },
                {
                    "name": "Kmt3a",
                    "type": "synonym"
                },
                {
                    "name": "Setd2",
                    "type": "synonym"
                }
            ],
            "record_id": "E9Q5F9-1",
            "evidence": [
                {
                    "id": "0061043",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061043"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BYW2-1",
            "uniprot_ac": "Q9BYW2",
            "uniprot_id": "SETD2_HUMAN",
            "refseq_ac": "NP_054878",
            "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 SETD2",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.359",
                    "type": "synonym"
                },
                {
                    "name": "HIF-1",
                    "type": "synonym"
                },
                {
                    "name": "HIP-1",
                    "type": "synonym"
                },
                {
                    "name": "Huntingtin yeast partner B",
                    "type": "synonym"
                },
                {
                    "name": "Huntingtin-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Huntingtin-interacting protein B",
                    "type": "synonym"
                },
                {
                    "name": "Lysine N-methyltransferase 3A",
                    "type": "synonym"
                },
                {
                    "name": "Protein-lysine N-methyltransferase SETD2",
                    "type": "synonym"
                },
                {
                    "name": "SET domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "hSET2",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase SETD2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase SETD2",
                    "type": "synonym"
                },
                {
                    "name": "huntingtin interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "huntingtin yeast partner B",
                    "type": "synonym"
                },
                {
                    "name": "huntingtin-interacting protein B",
                    "type": "synonym"
                },
                {
                    "name": "lysine N-methyltransferase 3A",
                    "type": "synonym"
                },
                {
                    "name": "p231HBP",
                    "type": "synonym"
                },
                {
                    "name": "protein-lysine N-methyltransferase SETD2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SETD2",
                    "type": "recommended"
                },
                {
                    "name": "HBP231",
                    "type": "synonym"
                },
                {
                    "name": "HIF-1",
                    "type": "synonym"
                },
                {
                    "name": "HIF1",
                    "type": "synonym"
                },
                {
                    "name": "HIP-1",
                    "type": "synonym"
                },
                {
                    "name": "HSPC069",
                    "type": "synonym"
                },
                {
                    "name": "HYPB",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1732",
                    "type": "synonym"
                },
                {
                    "name": "KMT3A",
                    "type": "synonym"
                },
                {
                    "name": "LLS",
                    "type": "synonym"
                },
                {
                    "name": "MRD70",
                    "type": "synonym"
                },
                {
                    "name": "RAPAS",
                    "type": "synonym"
                },
                {
                    "name": "SET2",
                    "type": "synonym"
                },
                {
                    "name": "SETD2",
                    "type": "synonym"
                },
                {
                    "name": "p231HBP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BYW2-1",
            "evidence": [
                {
                    "id": "620157",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620157"
                },
                {
                    "id": "0061043",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061043"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46995-1",
            "uniprot_ac": "P46995",
            "uniprot_id": "SET2_YEAST",
            "refseq_ac": "NP_012367",
            "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": "Histone-lysine N-methyltransferase, H3 lysine-36 specific",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.359",
                    "type": "synonym"
                },
                {
                    "name": "Lysine N-methyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "SET domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "histone methyltransferase SET2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SET2",
                    "type": "recommended"
                },
                {
                    "name": "EZL1",
                    "type": "synonym"
                },
                {
                    "name": "J0520",
                    "type": "synonym"
                },
                {
                    "name": "KMT3",
                    "type": "synonym"
                },
                {
                    "name": "SET2",
                    "type": "synonym"
                }
            ],
            "record_id": "P46995-1",
            "evidence": [
                {
                    "id": "0061043",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061043"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AUV5-1",
            "uniprot_ac": "A0A8I6AUV5",
            "uniprot_id": "A0A8I6AUV5_RAT",
            "refseq_ac": "NP_001388092",
            "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 SETD2",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.359",
                    "type": "synonym"
                },
                {
                    "name": "Lysine N-methyltransferase 3A",
                    "type": "synonym"
                },
                {
                    "name": "Protein-lysine N-methyltransferase SETD2",
                    "type": "synonym"
                },
                {
                    "name": "SET domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase SETD2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Setd2",
                    "type": "recommended"
                },
                {
                    "name": "Setd2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AUV5-1",
            "evidence": [
                {
                    "id": "0061043",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061043"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VYD1-1",
            "uniprot_ac": "Q9VYD1",
            "uniprot_id": "SET2_DROME",
            "refseq_ac": "NP_001162740",
            "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 Set2",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.359",
                    "type": "synonym"
                },
                {
                    "name": "CG1716-PB",
                    "type": "synonym"
                },
                {
                    "name": "SET domain containing 2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Set2-PB",
                    "type": "synonym"
                },
                {
                    "name": "dSet2",
                    "type": "synonym"
                },
                {
                    "name": "drosophila hypb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Set2",
                    "type": "recommended"
                },
                {
                    "name": "CG1716",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1716",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1716",
                    "type": "synonym"
                },
                {
                    "name": "Hypb",
                    "type": "synonym"
                },
                {
                    "name": "SET-2",
                    "type": "synonym"
                },
                {
                    "name": "SET2",
                    "type": "synonym"
                },
                {
                    "name": "Set2",
                    "type": "synonym"
                },
                {
                    "name": "dHypb",
                    "type": "synonym"
                },
                {
                    "name": "dSet2",
                    "type": "synonym"
                },
                {
                    "name": "set2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VYD1-1",
            "evidence": [
                {
                    "id": "0061043",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061043"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061043"
}