{
    "disease_id": "DOID:0081182",
    "recommended_name": {
        "id": "DOID:0081182",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081182",
        "name": "autosomal recessive intellectual developmental disorder 6",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ionotropic glutamate receptor-6 gene (GRIK2) on chromosome 6q16."
    },
    "synonyms": [
        {
            "id": "MONDO:0012614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012614",
            "name": "intellectual disability, autosomal recessive 6",
            "description": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene."
        },
        {
            "id": "MONDO:0012614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012614",
            "name": "GRIK2 autosomal recessive non-syndromic intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0012614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012614",
            "name": "autosomal recessive non-syndromic intellectual disability caused by mutation in GRIK2",
            "description": ""
        },
        {
            "id": "MONDO:0012614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012614",
            "name": "intellectual developmental disorder, autosomal recessive 6",
            "description": ""
        },
        {
            "id": "MONDO:0012614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012614",
            "name": "intellectual disability, autosomal recessive 6",
            "description": ""
        },
        {
            "id": "MONDO:0012614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012614",
            "name": "intellectual disability, autosomal recessive type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012614",
            "name": "mental retardation, autosomal recessive type 6",
            "description": ""
        },
        {
            "id": "MONDO:0012614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012614",
            "name": "MRT6",
            "description": ""
        },
        {
            "id": "MONDO:0012614",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012614",
            "name": "mental retardation, autosomal recessive 6",
            "description": ""
        },
        {
            "id": "MIM:611092",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611092",
            "name": "Intellectual developmental disorder, autosomal recessive 6",
            "description": "Intellectual developmental disorder, autosomal recessive 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081182"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081182",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081182",
            "categories": []
        },
        {
            "id": "MONDO:0012614",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012614",
            "categories": []
        },
        {
            "id": "MIM:611092",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611092",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8QF68-1",
            "uniprot_ac": "A0A2R8QF68",
            "uniprot_id": "GRIK2_DANRE",
            "refseq_ac": "NP_001410875",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate receptor ionotropic, kainate 2",
                    "type": "recommended"
                },
                {
                    "name": "GluK2",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, kainate 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "grik2alpha",
                    "type": "synonym"
                },
                {
                    "name": "grik2l",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grik2",
                    "type": "recommended"
                },
                {
                    "name": "GluK2",
                    "type": "synonym"
                },
                {
                    "name": "grik2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8QF68-1",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0081182"
                }
            ]
        },
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            "uniprot_canonical_ac": "P39087-1",
            "uniprot_ac": "P39087",
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            "refseq_ac": "NP_001104738",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Glutamate receptor ionotropic, kainate 2",
                    "type": "recommended"
                },
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                    "name": "GluK2",
                    "type": "synonym"
                },
                {
                    "name": "GluR beta-2",
                    "type": "synonym"
                },
                {
                    "name": "GluR-6",
                    "type": "synonym"
                },
                {
                    "name": "GluR6",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate receptor 6",
                    "type": "synonym"
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                {
                    "name": "Glutamate receptor beta-2",
                    "type": "synonym"
                },
                {
                    "name": "gluR beta-2",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor 6",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor beta-2",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, kainate 2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, kainate 2",
                    "type": "synonym"
                },
                {
                    "name": "proteasome (prosome, macropain) subunit, alpha type 6 pseudogene",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grik2",
                    "type": "recommended"
                },
                {
                    "name": "C130030K03Rik",
                    "type": "synonym"
                },
                {
                    "name": "GluK2",
                    "type": "synonym"
                },
                {
                    "name": "Glur-6",
                    "type": "synonym"
                },
                {
                    "name": "Glur6",
                    "type": "synonym"
                },
                {
                    "name": "Glurbeta2",
                    "type": "synonym"
                },
                {
                    "name": "Grik2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0081182",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13002-1",
            "uniprot_ac": "Q13002",
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            "refseq_ac": "NP_001159719",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Glutamate receptor ionotropic, kainate 2",
                    "type": "recommended"
                },
                {
                    "name": "EAA4",
                    "type": "synonym"
                },
                {
                    "name": "Excitatory amino acid receptor 4",
                    "type": "synonym"
                },
                {
                    "name": "GluK2(alt_5'UTR)",
                    "type": "synonym"
                },
                {
                    "name": "GluK2",
                    "type": "synonym"
                },
                {
                    "name": "GluR-6",
                    "type": "synonym"
                },
                {
                    "name": "GluR6",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate receptor 6",
                    "type": "synonym"
                },
                {
                    "name": "bA487F5.1",
                    "type": "synonym"
                },
                {
                    "name": "excitatory amino acid receptor 4",
                    "type": "synonym"
                },
                {
                    "name": "gluR-6",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor 6",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor form A",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor form B",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor form C",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor form D",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor form E",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, kainate 2 isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, kainate 2",
                    "type": "synonym"
                },
                {
                    "name": "putative NMDtranscript(cassette_171nt)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRIK2",
                    "type": "recommended"
                },
                {
                    "name": "EAA4",
                    "type": "synonym"
                },
                {
                    "name": "GLR6",
                    "type": "synonym"
                },
                {
                    "name": "GLUK6",
                    "type": "synonym"
                },
                {
                    "name": "GLUR6",
                    "type": "synonym"
                },
                {
                    "name": "GRIK2",
                    "type": "synonym"
                },
                {
                    "name": "GluK2",
                    "type": "synonym"
                },
                {
                    "name": "MRT6",
                    "type": "synonym"
                },
                {
                    "name": "NEDLAS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13002-1",
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                    "id": "611092",
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                {
                    "id": "0081182",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42260-1",
            "uniprot_ac": "P42260",
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            "refseq_ac": "NP_062182",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate receptor ionotropic, kainate 2",
                    "type": "recommended"
                },
                {
                    "name": "GluK2",
                    "type": "synonym"
                },
                {
                    "name": "GluR-6",
                    "type": "synonym"
                },
                {
                    "name": "GluR6",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate receptor 6",
                    "type": "synonym"
                },
                {
                    "name": "gluR-6",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor 6",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, kainate 2 precursor",
                    "type": "synonym"
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                    "name": "glutamate receptor, ionotropic, kainate 2",
                    "type": "synonym"
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            ],
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                {
                    "name": "Grik2",
                    "type": "recommended"
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                {
                    "name": "GluK2",
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                },
                {
                    "name": "GluR6",
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                    "name": "Glur6",
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                    "id": "0081182",
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                    "name": "Drosophila melanogaster",
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                    "name": "Glutamate receptor ionotropic, kainate 2",
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                    "name": "ukar",
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                    "name": "CT30863",
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                    "name": "DmelCG11155",
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                    "name": "Drosophila melanogaster",
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                }
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                    "name": "CG7234-PI",
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                    "name": "Glutamate receptor IIB",
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                    "name": "glutamate receptor IIB",
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                    "name": "glutamate receptor",
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                    "name": "GluRIIB",
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                    "id": "0081182",
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                    "name": "CG5621-PC",
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                    "name": "CT17756",
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                    "name": "KaiR1C",
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                    "name": "CG31201-PB",
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                {
                    "name": "GluRIIE-PB",
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                {
                    "name": "Glutamate receptor IIE",
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                    "name": "glutamate receptor IIE",
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                    "name": "DmelGluRIIE",
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                    "id": "0081182",
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                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
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                    "name": "CG8681-PB",
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                    "name": "Clumsy, isoform B",
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                },
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                    "name": "clumsy, isoform B",
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                    "name": "clumsy-PB",
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                    "name": "clumsy",
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                    "name": "CG8681",
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                    "name": "Dmel\\CG8681",
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                    "name": "Dmel_CG8681",
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                    "name": "Dmelclumsy",
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                    "name": "GluR39B",
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                    "id": "0081182",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081182"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDH5-1",
            "uniprot_ac": "Q9VDH5",
            "uniprot_id": "Q9VDH5_DROME",
            "refseq_ac": "NP_650925",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "CG3822-PA",
                    "type": "synonym"
                },
                {
                    "name": "KaiR1D-PA",
                    "type": "synonym"
                },
                {
                    "name": "Kainate-type ionotropic glutamate receptor subunit 1D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KaiR1D",
                    "type": "recommended"
                },
                {
                    "name": "CG3822",
                    "type": "synonym"
                },
                {
                    "name": "CT12759",
                    "type": "synonym"
                },
                {
                    "name": "DKaiR1D",
                    "type": "synonym"
                },
                {
                    "name": "DKaiRID",
                    "type": "synonym"
                },
                {
                    "name": "DmelCG3822",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3822",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3822",
                    "type": "synonym"
                },
                {
                    "name": "KaiR1D",
                    "type": "synonym"
                },
                {
                    "name": "KaiRID",
                    "type": "synonym"
                },
                {
                    "name": "dKaiR1D",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDH5-1",
            "evidence": [
                {
                    "id": "0081182",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081182"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081182"
}