{
    "disease_id": "DOID:0081226",
    "recommended_name": {
        "id": "DOID:0081226",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081226",
        "name": "autosomal recessive intellectual developmental disorder 65",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KDM5B gene on chromosome 1q32."
    },
    "synonyms": [
        {
            "id": "MONDO:0020850",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020850",
            "name": "intellectual disability, autosomal recessive 65",
            "description": ""
        },
        {
            "id": "MONDO:0020850",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020850",
            "name": "MRT65",
            "description": ""
        },
        {
            "id": "MONDO:0020850",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020850",
            "name": "intellectual disability, autosomal recessive 65",
            "description": ""
        },
        {
            "id": "MONDO:0020850",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020850",
            "name": "mental retardation, autosomal recessive 65",
            "description": ""
        },
        {
            "id": "MIM:618109",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618109",
            "name": "Intellectual developmental disorder, autosomal recessive 65",
            "description": "Intellectual developmental disorder, autosomal recessive 65"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081226"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081226",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081226",
            "categories": []
        },
        {
            "id": "MONDO:0020850",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020850",
            "categories": []
        },
        {
            "id": "MIM:618109",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618109",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6IQX0-1",
            "uniprot_ac": "Q6IQX0",
            "uniprot_id": "KD5BB_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Lysine-specific demethylase 5B-B",
                    "type": "recommended"
                },
                {
                    "name": "1.14.11.67",
                    "type": "synonym"
                },
                {
                    "name": "Histone demethylase JARID1B-B",
                    "type": "synonym"
                },
                {
                    "name": "Jumonji/ARID domain-containing protein 1B-B",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-trimethyl-L-lysine(4) demethylase 5B-B",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "kdm5bb",
                    "type": "recommended"
                },
                {
                    "name": "cb264",
                    "type": "synonym"
                },
                {
                    "name": "jarid1bb",
                    "type": "synonym"
                },
                {
                    "name": "jarid1b",
                    "type": "synonym"
                },
                {
                    "name": "plu1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-193l3.2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc44h11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:85741",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0081226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081226"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9Q713-1",
            "uniprot_ac": "A0A8M9Q713",
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            "refseq_ac": "NP_001334536",
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                    "name": "Danio rerio",
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                }
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                {
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                },
                {
                    "name": "jumonji, AT rich interactive domain 1Ba (Rbp2 like)",
                    "type": "synonym"
                },
                {
                    "name": "lysine (K)-specific demethylase 5Ba",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "kdm5ba",
                    "type": "recommended"
                },
                {
                    "name": "id:ibd5050",
                    "type": "synonym"
                },
                {
                    "name": "jarid1ba",
                    "type": "synonym"
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                {
                    "name": "jarid1b",
                    "type": "synonym"
                },
                {
                    "name": "kdm5ba",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd15c05",
                    "type": "synonym"
                }
            ],
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                    "id": "0081226",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80Y84-1",
            "uniprot_ac": "Q80Y84",
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            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Lysine-specific demethylase 5B",
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                {
                    "name": "1.14.11.67",
                    "type": "synonym"
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                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "PLU-1",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "histone demethylase JARID1B",
                    "type": "synonym"
                },
                {
                    "name": "jumonji, AT rich interactive domain 1B (Rbp2 like)",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "lysine (K)-specific demethylase 5B",
                    "type": "synonym"
                },
                {
                    "name": "lysine-specific demethylase 5B",
                    "type": "synonym"
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                    "name": "putative DNA/chromatin binding motif 1",
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                }
            ],
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                {
                    "name": "Kdm5b",
                    "type": "recommended"
                },
                {
                    "name": "2010009J12Rik",
                    "type": "synonym"
                },
                {
                    "name": "2210016I17Rik",
                    "type": "synonym"
                },
                {
                    "name": "D1Ertd202e",
                    "type": "synonym"
                },
                {
                    "name": "Jarid1b",
                    "type": "synonym"
                },
                {
                    "name": "Kdm5b",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa4034",
                    "type": "synonym"
                },
                {
                    "name": "PLU-1",
                    "type": "synonym"
                },
                {
                    "name": "PUT1",
                    "type": "synonym"
                },
                {
                    "name": "Plu1",
                    "type": "synonym"
                },
                {
                    "name": "RBBP2H1A",
                    "type": "synonym"
                },
                {
                    "name": "Rb-Bp2",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4034",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80Y84-1",
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                {
                    "id": "0081226",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UGL1-1",
            "uniprot_ac": "Q9UGL1",
            "uniprot_id": "KDM5B_HUMAN",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Lysine-specific demethylase 5B",
                    "type": "recommended"
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                    "name": "1.14.11.67",
                    "type": "synonym"
                },
                {
                    "name": "CT31",
                    "type": "synonym"
                },
                {
                    "name": "Cancer/testis antigen 31",
                    "type": "synonym"
                },
                {
                    "name": "Histone demethylase JARID1B",
                    "type": "synonym"
                },
                {
                    "name": "Jumonji/ARID domain-containing protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "PLU-1",
                    "type": "synonym"
                },
                {
                    "name": "RBP2-H1",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-binding protein 2 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-trimethyl-L-lysine(4) demethylase 5B",
                    "type": "synonym"
                },
                {
                    "name": "cancer/testis antigen 31",
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                    "name": "histone demethylase JARID1B",
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                    "type": "synonym"
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                    "name": "lysine-specific demethylase 5B isoform 1",
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                {
                    "name": "protein phosphatase 1, regulatory subunit 98",
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                {
                    "name": "putative DNA/chromatin binding motif",
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                },
                {
                    "name": "retinoblastoma-binding protein 2 homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "retinoblastoma-binding protein 2, homolog 1A",
                    "type": "synonym"
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            ],
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                    "name": "KDM5B",
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                    "name": "KDM5B",
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                    "name": "MRT65",
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                {
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                    "name": "PLU1",
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                    "id": "0081226",
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            "uniprot_canonical_ac": "P47156-1",
            "uniprot_ac": "P47156",
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
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                    "name": "Histone demethylase JHD2",
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                    "name": "histone demethylase",
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                    "name": "JHD2",
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                    "id": "0081226",
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            "uniprot_canonical_ac": "A0A0G2K3N6-1",
            "uniprot_ac": "A0A0G2K3N6",
            "uniprot_id": "A0A0G2K3N6_RAT",
            "refseq_ac": "XP_063128368",
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            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Lysine-specific demethylase 5B",
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                {
                    "name": "Histone demethylase JARID1B",
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                    "name": "Jumonji/ARID domain-containing protein 1B",
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                    "name": "lysine-specific demethylase 5B isoform X1",
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                    "name": "Kdm5b",
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                    "name": "Jarid1b",
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                },
                {
                    "name": "Kdm5b",
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                {
                    "name": "RGD1565602",
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                    "id": "0081226",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0081226"
                }
            ]
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        {
            "uniprot_canonical_ac": "Q9VMJ7-1",
            "uniprot_ac": "Q9VMJ7",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Lysine-specific demethylase 5",
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                    "name": "1.14.11.67",
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                    "name": "CG9088-PC",
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                {
                    "name": "Histone demethylase lid",
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                    "name": "Jumonji/ARID domain-containing protein lid",
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                {
                    "name": "Kdm5-PC",
                    "type": "synonym"
                },
                {
                    "name": "Protein little imaginal disks",
                    "type": "synonym"
                },
                {
                    "name": "Retinoblastoma-binding protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "[histone H3]-trimethyl-L-lysine(4) demethylase Kdm5",
                    "type": "synonym"
                },
                {
                    "name": "lid",
                    "type": "synonym"
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                {
                    "name": "little imaginal discs",
                    "type": "synonym"
                },
                {
                    "name": "little imaginal disks",
                    "type": "synonym"
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                {
                    "name": "lysine demethylase 5, isoform C",
                    "type": "synonym"
                }
            ],
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                    "name": "Kdm5",
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                    "name": "CG9088",
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                {
                    "name": "Dmel\\CG9088",
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                {
                    "name": "Dmel_CG9088",
                    "type": "synonym"
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                {
                    "name": "KDM5",
                    "type": "synonym"
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                {
                    "name": "Kdm5",
                    "type": "synonym"
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                {
                    "name": "LID",
                    "type": "synonym"
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                {
                    "name": "Lid/KDM5",
                    "type": "synonym"
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                    "name": "Lid",
                    "type": "synonym"
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                {
                    "name": "dJARID1",
                    "type": "synonym"
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                    "name": "dKDM5/LID",
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                {
                    "name": "dKDM5",
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                },
                {
                    "name": "kdm5",
                    "type": "synonym"
                },
                {
                    "name": "l(2)10424",
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                },
                {
                    "name": "lid",
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            ],
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                {
                    "id": "0081226",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081226"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081226"
}