{
    "disease_id": "DOID:0070053",
    "recommended_name": {
        "id": "DOID:0070053",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070053",
        "name": "autosomal dominant intellectual developmental disorder 23",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070053",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070053",
            "name": "MRD23",
            "description": ""
        },
        {
            "id": "DOID:0070053",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070053",
            "name": "autosomal dominant mental retardation 23",
            "description": ""
        },
        {
            "id": "DOID:0070053",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070053",
            "name": "autosomal dominant non-syndromic intellectual disability 23",
            "description": ""
        },
        {
            "id": "MONDO:0014336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014336",
            "name": "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014336",
            "name": "MRD23",
            "description": ""
        },
        {
            "id": "MONDO:0014336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014336",
            "name": "autosomal dominant intellectual disability 23",
            "description": ""
        },
        {
            "id": "MONDO:0014336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014336",
            "name": "intellectual developmental disorder, autosomal dominant 23",
            "description": ""
        },
        {
            "id": "MONDO:0014336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014336",
            "name": "intellectual disability, autosomal dominant type 23",
            "description": ""
        },
        {
            "id": "MONDO:0014336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014336",
            "name": "intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014336",
            "resource": "MONDO",
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            "name": "mental retardation, autosomal dominant type 23",
            "description": ""
        },
        {
            "id": "MONDO:0014336",
            "resource": "MONDO",
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            "name": "intellectual disability, autosomal dominant 23",
            "description": ""
        },
        {
            "id": "MONDO:0014336",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014336",
            "name": "mental retardation, autosomal dominant 23",
            "description": ""
        },
        {
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            "resource": "MIM",
            "url": "https://www.omim.org/entry/615761",
            "name": "Intellectual developmental disorder, autosomal dominant 23",
            "description": "Intellectual developmental disorder, autosomal dominant 23"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070053"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070053",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070053",
            "categories": []
        },
        {
            "id": "MONDO:0014336",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014336",
            "categories": []
        },
        {
            "id": "MIM:615761",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615761",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "A0A8M9QFY2-1",
            "uniprot_ac": "A0A8M9QFY2",
            "uniprot_id": "A0A8M9QFY2_DANRE",
            "refseq_ac": "XP_021332760",
            "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 SETD5 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase SETD5 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "setd5",
                    "type": "recommended"
                },
                {
                    "name": "setd5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QFY2-1",
            "evidence": [
                {
                    "id": "0070053",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070053"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XJV7-1",
            "uniprot_ac": "Q5XJV7",
            "uniprot_id": "SETD5_MOUSE",
            "refseq_ac": "NP_082661",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Histone-lysine N-methyltransferase SETD5",
                    "type": "recommended"
                },
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                    "name": "2.1.1.359",
                    "type": "synonym"
                },
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                    "name": "2.1.1.367",
                    "type": "synonym"
                },
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                    "name": "SET domain-containing protein 5",
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                },
                {
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                    "type": "synonym"
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                {
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            ],
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                {
                    "name": "Setd5",
                    "type": "recommended"
                },
                {
                    "name": "2900045N06Rik",
                    "type": "synonym"
                },
                {
                    "name": "C330007C20",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1757",
                    "type": "synonym"
                },
                {
                    "name": "Setd5",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1757",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0070053",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070053"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9C0A6-1",
            "uniprot_ac": "Q9C0A6",
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            "refseq_ac": "NP_001073986",
            "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 SETD5",
                    "type": "recommended"
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                    "name": "2.1.1.359",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.367",
                    "type": "synonym"
                },
                {
                    "name": "SET domain-containing protein 5",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase SETD5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase SETD5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SETD5",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1757",
                    "type": "synonym"
                },
                {
                    "name": "MRD23",
                    "type": "synonym"
                },
                {
                    "name": "SETD5A",
                    "type": "synonym"
                },
                {
                    "name": "SETD5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9C0A6-1",
            "evidence": [
                {
                    "id": "615761",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615761"
                },
                {
                    "id": "0070053",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070053"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36124-1",
            "uniprot_ac": "P36124",
            "uniprot_id": "SET3_YEAST",
            "refseq_ac": "NP_012954",
            "glycoprotein": "yes",
            "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 reader SET3",
                    "type": "recommended"
                },
                {
                    "name": "SET domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "histone-binding protein SET3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SET3",
                    "type": "recommended"
                },
                {
                    "name": "SET3",
                    "type": "synonym"
                }
            ],
            "record_id": "P36124-1",
            "evidence": [
                {
                    "id": "0070053",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070053"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42948-1",
            "uniprot_ac": "P42948",
            "uniprot_id": "SET4_YEAST",
            "refseq_ac": "NP_012430",
            "glycoprotein": "yes",
            "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 reader SET4",
                    "type": "recommended"
                },
                {
                    "name": "SET domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Set4p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SET4",
                    "type": "recommended"
                },
                {
                    "name": "J0819",
                    "type": "synonym"
                },
                {
                    "name": "SET4",
                    "type": "synonym"
                }
            ],
            "record_id": "P42948-1",
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                {
                    "id": "0070053",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070053"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A2W7-1",
            "uniprot_ac": "D4A2W7",
            "uniprot_id": "D4A2W7_RAT",
            "refseq_ac": "XP_063141936",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SET domain containing 5",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase SETD5 isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Setd5",
                    "type": "recommended"
                },
                {
                    "name": "RGD1310433",
                    "type": "synonym"
                },
                {
                    "name": "Setd5",
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            ],
            "record_id": "D4A2W7-1",
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                    "id": "0070053",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070053"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUB5-1",
            "uniprot_ac": "Q9VUB5",
            "uniprot_id": "UPSET_DROME",
            "refseq_ac": "NP_001261819",
            "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 reader upSET",
                    "type": "recommended"
                },
                {
                    "name": "CG9007-PB",
                    "type": "synonym"
                },
                {
                    "name": "upSET, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "upSET-PB",
                    "type": "synonym"
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            ],
            "gene_names": [
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                    "name": "upSET",
                    "type": "recommended"
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                {
                    "name": "CG9007",
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                },
                {
                    "name": "Dmel\\CG9007",
                    "type": "synonym"
                },
                {
                    "name": "UpSET",
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                {
                    "name": "Upset",
                    "type": "synonym"
                },
                {
                    "name": "upSET",
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                    "id": "0070053",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070053"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070053"
}