{
    "disease_id": "DOID:0061038",
    "recommended_name": {
        "id": "DOID:0061038",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061038",
        "name": "autosomal dominant intellectual developmental disorder 65",
        "description": "An autosomal dominant intellectual developmental disorder characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KDM4B gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0023657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023657",
            "name": "intellectual developmental disorder, autosomal dominant 65",
            "description": ""
        },
        {
            "id": "MONDO:0023657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023657",
            "name": "MRD65",
            "description": ""
        },
        {
            "id": "MONDO:0023657",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023657",
            "name": "mental retardation, autosomal dominant 65",
            "description": ""
        },
        {
            "id": "MIM:619320",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619320",
            "name": "Intellectual developmental disorder, autosomal dominant 65",
            "description": "Intellectual developmental disorder, autosomal dominant 65"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061038"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061038",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061038",
            "categories": []
        },
        {
            "id": "MONDO:0023657",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023657",
            "categories": []
        },
        {
            "id": "MIM:619320",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619320",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q91VY5-1",
            "uniprot_ac": "Q91VY5",
            "uniprot_id": "KDM4B_MOUSE",
            "refseq_ac": "NP_742144",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysine-specific demethylase 4B",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.66",
                    "type": "synonym"
                },
                {
                    "name": "JmjC domain-containing histone demethylation protein 3B",
                    "type": "synonym"
                },
                {
                    "name": "Jumonji domain-containing protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-trimethyl-L-lysine(9) demethylase 4B",
                    "type": "synonym"
                },
                {
                    "name": "jmjC domain-containing histone demethylation protein 3B",
                    "type": "synonym"
                },
                {
                    "name": "jumonji domain-containing protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific demethylase 4B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific demethylase 4B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kdm4b",
                    "type": "recommended"
                },
                {
                    "name": "4732474L06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Jhdm3b",
                    "type": "synonym"
                },
                {
                    "name": "Jmjd2b",
                    "type": "synonym"
                },
                {
                    "name": "Kdm4b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91VY5-1",
            "evidence": [
                {
                    "id": "0061038",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061038"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94953-1",
            "uniprot_ac": "O94953",
            "uniprot_id": "KDM4B_HUMAN",
            "refseq_ac": "NP_055830",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysine-specific demethylase 4B",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.66",
                    "type": "synonym"
                },
                {
                    "name": "JmjC domain-containing histone demethylation protein 3B",
                    "type": "synonym"
                },
                {
                    "name": "Jumonji domain-containing protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-trimethyl-L-lysine(9) demethylase 4B",
                    "type": "synonym"
                },
                {
                    "name": "jmjC domain-containing histone demethylation protein 3B",
                    "type": "synonym"
                },
                {
                    "name": "jumonji domain containing 2B",
                    "type": "synonym"
                },
                {
                    "name": "jumonji domain-containing protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "lysine (K)-specific demethylase 4B",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific demethylase 4B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific demethylase 4B",
                    "type": "synonym"
                },
                {
                    "name": "tudor domain containing 14B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KDM4B",
                    "type": "recommended"
                },
                {
                    "name": "JHDM3B",
                    "type": "synonym"
                },
                {
                    "name": "JMJD2B",
                    "type": "synonym"
                },
                {
                    "name": "KDM4B",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0876",
                    "type": "synonym"
                },
                {
                    "name": "MRD65",
                    "type": "synonym"
                },
                {
                    "name": "TDRD14B",
                    "type": "synonym"
                }
            ],
            "record_id": "O94953-1",
            "evidence": [
                {
                    "id": "619320",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619320"
                },
                {
                    "id": "0061038",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061038"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03833-1",
            "uniprot_ac": "Q03833",
            "uniprot_id": "GIS1_YEAST",
            "refseq_ac": "NP_010381",
            "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": "Transcriptional activator/repressor GIS1",
                    "type": "recommended"
                },
                {
                    "name": "histone demethylase GIS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GIS1",
                    "type": "recommended"
                },
                {
                    "name": "GIS1",
                    "type": "synonym"
                },
                {
                    "name": "YD8557.01",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03833-1",
            "evidence": [
                {
                    "id": "0061038",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061038"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39956-1",
            "uniprot_ac": "P39956",
            "uniprot_id": "RPH1_YEAST",
            "refseq_ac": "NP_011096",
            "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": "DNA damage-responsive transcriptional repressor RPH1",
                    "type": "recommended"
                },
                {
                    "name": "Rph1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPH1",
                    "type": "recommended"
                },
                {
                    "name": "KDM4",
                    "type": "synonym"
                },
                {
                    "name": "RPH1",
                    "type": "synonym"
                }
            ],
            "record_id": "P39956-1",
            "evidence": [
                {
                    "id": "0061038",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061038"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RB75-1",
            "uniprot_ac": "M0RB75",
            "uniprot_id": "M0RB75_RAT",
            "refseq_ac": "NP_001037701",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lysine-specific demethylase 4B",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.66",
                    "type": "synonym"
                },
                {
                    "name": "JmjC domain-containing histone demethylation protein 3B",
                    "type": "synonym"
                },
                {
                    "name": "Jumonji domain-containing protein 2B",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-trimethyl-L-lysine(9) demethylase 4B",
                    "type": "synonym"
                },
                {
                    "name": "lysine (K)-specific demethylase 4B",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific demethylase 4B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific demethylase 4B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kdm4b",
                    "type": "recommended"
                },
                {
                    "name": "Kdm4b",
                    "type": "synonym"
                }
            ],
            "record_id": "M0RB75-1",
            "evidence": [
                {
                    "id": "0061038",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061038"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V333-1",
            "uniprot_ac": "Q9V333",
            "uniprot_id": "KDM4A_DROME",
            "refseq_ac": "NP_610331",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable lysine-specific demethylase 4A",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.66",
                    "type": "synonym"
                },
                {
                    "name": "1.14.11.69",
                    "type": "synonym"
                },
                {
                    "name": "CG15835-PA",
                    "type": "synonym"
                },
                {
                    "name": "Kdm4A-PA",
                    "type": "synonym"
                },
                {
                    "name": "Probable JmjC domain-containing histone demethylation protein 3A",
                    "type": "synonym"
                },
                {
                    "name": "Probable [histone H3]-trimethyl-L-lysine(36) demethylase 4A",
                    "type": "synonym"
                },
                {
                    "name": "Probable [histone H3]-trimethyl-L-lysine(9) demethylase 4A",
                    "type": "synonym"
                },
                {
                    "name": "histone demethylase 4A",
                    "type": "synonym"
                },
                {
                    "name": "lysine (K)-specific demethylase 4A",
                    "type": "synonym"
                },
                {
                    "name": "lysine demethylase 4A, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kdm4A",
                    "type": "recommended"
                },
                {
                    "name": "CG15835",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15835",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15835",
                    "type": "synonym"
                },
                {
                    "name": "JMJD2AKDM4A",
                    "type": "synonym"
                },
                {
                    "name": "JMJD2A",
                    "type": "synonym"
                },
                {
                    "name": "KDM4A",
                    "type": "synonym"
                },
                {
                    "name": "Kdm4A",
                    "type": "synonym"
                },
                {
                    "name": "Kdm4a",
                    "type": "synonym"
                },
                {
                    "name": "dJMJD2(1)",
                    "type": "synonym"
                },
                {
                    "name": "dKDM4A",
                    "type": "synonym"
                },
                {
                    "name": "dkdm4a",
                    "type": "synonym"
                },
                {
                    "name": "kdm4a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V333-1",
            "evidence": [
                {
                    "id": "0061038",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061038"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V6L0-1",
            "uniprot_ac": "Q9V6L0",
            "uniprot_id": "KDM4B_DROME",
            "refseq_ac": "NP_001163137",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable lysine-specific demethylase 4B",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.66",
                    "type": "synonym"
                },
                {
                    "name": "CG33182-PB",
                    "type": "synonym"
                },
                {
                    "name": "Kdm4B-PB",
                    "type": "synonym"
                },
                {
                    "name": "Probable JmjC domain-containing histone demethylation protein 3B",
                    "type": "synonym"
                },
                {
                    "name": "Probable [histone H3]-trimethyl-L-lysine(9) demethylase 4B",
                    "type": "synonym"
                },
                {
                    "name": "histone demethylase 4B",
                    "type": "synonym"
                },
                {
                    "name": "lysine (K)-specific demethylase 4B",
                    "type": "synonym"
                },
                {
                    "name": "lysine demethylase 4B, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kdm4B",
                    "type": "recommended"
                },
                {
                    "name": "CG33182",
                    "type": "synonym"
                },
                {
                    "name": "CG4037",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33182",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33182",
                    "type": "synonym"
                },
                {
                    "name": "KDM4B",
                    "type": "synonym"
                },
                {
                    "name": "Kdm4B",
                    "type": "synonym"
                },
                {
                    "name": "Kdm4b",
                    "type": "synonym"
                },
                {
                    "name": "dJMJD2(2)",
                    "type": "synonym"
                },
                {
                    "name": "dKDM4B",
                    "type": "synonym"
                },
                {
                    "name": "dKdm4B",
                    "type": "synonym"
                },
                {
                    "name": "kdm4b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V6L0-1",
            "evidence": [
                {
                    "id": "0061038",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061038"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061038"
}