{
    "disease_id": "DOID:0080232",
    "recommended_name": {
        "id": "DOID:0080232",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080232",
        "name": "autosomal dominant intellectual developmental disorder 51",
        "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080232",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080232",
            "name": "autosomal dominant mental retardation 51",
            "description": ""
        },
        {
            "id": "MONDO:0030917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030917",
            "name": "intellectual disability, autosomal dominant 51",
            "description": ""
        },
        {
            "id": "MONDO:0030917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030917",
            "name": "intellectual disability, autosomal dominant 51",
            "description": ""
        },
        {
            "id": "MONDO:0030917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030917",
            "name": "MRD51",
            "description": ""
        },
        {
            "id": "MONDO:0030917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030917",
            "name": "autosomal dominant mental retardation 51",
            "description": ""
        },
        {
            "id": "MONDO:0030917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030917",
            "name": "mental retardation, autosomal dominant 51",
            "description": ""
        },
        {
            "id": "MIM:617788",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617788",
            "name": "Intellectual developmental disorder, autosomal dominant 51",
            "description": "Intellectual developmental disorder, autosomal dominant 51"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080232"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080232",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080232",
            "categories": []
        },
        {
            "id": "MONDO:0030917",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030917",
            "categories": []
        },
        {
            "id": "MIM:617788",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617788",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5U3H2-1",
            "uniprot_ac": "Q5U3H2",
            "uniprot_id": "KMT5B_DANRE",
            "refseq_ac": "NP_001007338",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase KMT5B",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.361",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.362",
                    "type": "synonym"
                },
                {
                    "name": "Lysine-specific methyltransferase 5B",
                    "type": "synonym"
                },
                {
                    "name": "Su(var)4-20 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of variegation 4-20 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Suv4-20h1",
                    "type": "synonym"
                },
                {
                    "name": "[histone H4]-N-methyl-L-lysine20 N-methyltransferase KMT5B",
                    "type": "synonym"
                },
                {
                    "name": "[histone H4]-lysine20 N-methyltransferase KMT5B",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase KMT5B",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase SUV420H1",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific methyltransferase 5B",
                    "type": "synonym"
                },
                {
                    "name": "su(var)4-20 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of variegation 4-20 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of variegation 4-20 protein-like 1",
                    "type": "synonym"
                },
                {
                    "name": "suv4-20h1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kmt5b",
                    "type": "recommended"
                },
                {
                    "name": "kmt5b",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-12e7.2",
                    "type": "synonym"
                },
                {
                    "name": "suv420h1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb97g06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi57g03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103527",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U3H2-1",
            "evidence": [
                {
                    "id": "0080232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080232"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3U8K7-1",
            "uniprot_ac": "Q3U8K7",
            "uniprot_id": "KMT5B_MOUSE",
            "refseq_ac": "NP_001161356",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase KMT5B",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.361",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.362",
                    "type": "synonym"
                },
                {
                    "name": "Lysine-specific methyltransferase 5B",
                    "type": "synonym"
                },
                {
                    "name": "Su(var)4-20 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of variegation 4-20 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Suv4-20h1",
                    "type": "synonym"
                },
                {
                    "name": "[histone H4]-N-methyl-L-lysine20 N-methyltransferase KMT5B",
                    "type": "synonym"
                },
                {
                    "name": "[histone H4]-lysine20 N-methyltransferase KMT5B",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase KMT5B isoform d",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase KMT5B",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase SUV420H1",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific methyltransferase 5B",
                    "type": "synonym"
                },
                {
                    "name": "su(var)4-20 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of variegation 4-20 homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kmt5b",
                    "type": "recommended"
                },
                {
                    "name": "C630029K18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kmt5b",
                    "type": "synonym"
                },
                {
                    "name": "Suv4-20h1",
                    "type": "synonym"
                },
                {
                    "name": "Suv420h1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3U8K7-1",
            "evidence": [
                {
                    "id": "0080232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080232"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4FZB7-1",
            "uniprot_ac": "Q4FZB7",
            "uniprot_id": "KMT5B_HUMAN",
            "refseq_ac": "NP_057112",
            "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 KMT5B",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.361",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.362",
                    "type": "synonym"
                },
                {
                    "name": "Lysine N-methyltransferase 5B",
                    "type": "synonym"
                },
                {
                    "name": "Lysine-specific methyltransferase 5B",
                    "type": "synonym"
                },
                {
                    "name": "Su(var)4-20 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of variegation 4-20 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Suv4-20h1",
                    "type": "synonym"
                },
                {
                    "name": "[histone H4]-N-methyl-L-lysine20 N-methyltransferase KMT5B",
                    "type": "synonym"
                },
                {
                    "name": "[histone H4]-lysine20 N-methyltransferase KMT5B",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase KMT5B isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase KMT5B",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase SUV420H1",
                    "type": "synonym"
                },
                {
                    "name": "lysine (K)-specific methyltransferase 5B",
                    "type": "synonym"
                },
                {
                    "name": "lysine N-methyltransferase 5B",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific methyltransferase 5B",
                    "type": "synonym"
                },
                {
                    "name": "su(var)4-20 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of variegation 4-20 homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KMT5B",
                    "type": "recommended"
                },
                {
                    "name": "CGI-85",
                    "type": "synonym"
                },
                {
                    "name": "CGI85",
                    "type": "synonym"
                },
                {
                    "name": "KMT5B",
                    "type": "synonym"
                },
                {
                    "name": "MRD51",
                    "type": "synonym"
                },
                {
                    "name": "SUV420H1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4FZB7-1",
            "evidence": [
                {
                    "id": "617788",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617788"
                },
                {
                    "id": "0080232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080232"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0C2N5-1",
            "uniprot_ac": "P0C2N5",
            "uniprot_id": "KMT5B_RAT",
            "refseq_ac": "NP_001101982",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone-lysine N-methyltransferase KMT5B",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.361",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.362",
                    "type": "synonym"
                },
                {
                    "name": "Lysine-specific methyltransferase 5B",
                    "type": "synonym"
                },
                {
                    "name": "Su(var)4-20 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of variegation 4-20 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Suv4-20h1",
                    "type": "synonym"
                },
                {
                    "name": "[histone H4]-N-methyl-L-lysine20 N-methyltransferase KMT5B",
                    "type": "synonym"
                },
                {
                    "name": "[histone H4]-lysine20 N-methyltransferase KMT5B",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase KMT5B",
                    "type": "synonym"
                },
                {
                    "name": "histone-lysine N-methyltransferase SUV420H1",
                    "type": "synonym"
                },
                {
                    "name": "lysine (K)-specific methyltransferase 5B",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific methyltransferase 5B",
                    "type": "synonym"
                },
                {
                    "name": "su(var)4-20 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of variegation 4-20 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "suv4-20h1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kmt5b",
                    "type": "recommended"
                },
                {
                    "name": "Kmt5b",
                    "type": "synonym"
                },
                {
                    "name": "Suv420h1",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C2N5-1",
            "evidence": [
                {
                    "id": "0080232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080232"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W5E0-1",
            "uniprot_ac": "Q9W5E0",
            "uniprot_id": "SUV42_DROME",
            "refseq_ac": "NP_001245453",
            "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 Suv4-20",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.361",
                    "type": "synonym"
                },
                {
                    "name": "2.1.1.362",
                    "type": "synonym"
                },
                {
                    "name": "CG13363-PB",
                    "type": "synonym"
                },
                {
                    "name": "Hmt4-20-PB",
                    "type": "synonym"
                },
                {
                    "name": "Su(var)4-20",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of variegation 4-20",
                    "type": "synonym"
                },
                {
                    "name": "Suv4-20",
                    "type": "synonym"
                },
                {
                    "name": "histone methyltransferase 4-20, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "histone methyltransferase 4-20",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hmt4-20",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD36415",
                    "type": "synonym"
                },
                {
                    "name": "CG13363",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13363",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13363",
                    "type": "synonym"
                },
                {
                    "name": "EG:115C2.10",
                    "type": "synonym"
                },
                {
                    "name": "Hmt4-20",
                    "type": "synonym"
                },
                {
                    "name": "SUV4-20",
                    "type": "synonym"
                },
                {
                    "name": "Su(var)4-20",
                    "type": "synonym"
                },
                {
                    "name": "Suv4-20",
                    "type": "synonym"
                },
                {
                    "name": "Suv4.20",
                    "type": "synonym"
                },
                {
                    "name": "dSuv4-20",
                    "type": "synonym"
                },
                {
                    "name": "hmt4-20",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W5E0-1",
            "evidence": [
                {
                    "id": "0080232",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080232"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080232"
}