{
    "disease_id": "DOID:0081235",
    "recommended_name": {
        "id": "DOID:0081235",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081235",
        "name": "autosomal recessive intellectual developmental disorder 76",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the GRIA1 gene on chromosome 5q33."
    },
    "synonyms": [
        {
            "id": "MONDO:0030968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030968",
            "name": "intellectual developmental disorder, autosomal recessive 76",
            "description": ""
        },
        {
            "id": "MONDO:0030968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030968",
            "name": "MRT76",
            "description": ""
        },
        {
            "id": "MONDO:0030968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030968",
            "name": "intellectual developmental disorder, autosomal recessive 76",
            "description": ""
        },
        {
            "id": "MONDO:0030968",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030968",
            "name": "mental retardation, autosomal recessive 76",
            "description": ""
        },
        {
            "id": "MIM:619931",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619931",
            "name": "Intellectual developmental disorder, autosomal recessive 76",
            "description": "Intellectual developmental disorder, autosomal recessive 76"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081235"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081235",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081235",
            "categories": []
        },
        {
            "id": "MONDO:0030968",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030968",
            "categories": []
        },
        {
            "id": "MIM:619931",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619931",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F1V8-1",
            "uniprot_ac": "E7F1V8",
            "uniprot_id": "E7F1V8_DANRE",
            "refseq_ac": "XP_005161396",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate receptor 1b isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor 1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gria1b",
                    "type": "recommended"
                },
                {
                    "name": "Gria1",
                    "type": "synonym"
                },
                {
                    "name": "glur1b",
                    "type": "synonym"
                },
                {
                    "name": "gria1.2",
                    "type": "synonym"
                },
                {
                    "name": "gria1b",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu293",
                    "type": "synonym"
                }
            ],
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            "evidence": [
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                    "url": "https://www.alliancegenome.org/disease/DOID:0081235"
                }
            ]
        },
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            "uniprot_canonical_ac": "P23818-1",
            "uniprot_ac": "P23818",
            "uniprot_id": "GRIA1_MOUSE",
            "refseq_ac": "NP_001106796",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "AMPA-selective glutamate receptor 1",
                    "type": "synonym"
                },
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                    "name": "GluA1",
                    "type": "synonym"
                },
                {
                    "name": "GluR-1",
                    "type": "synonym"
                },
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                    "name": "GluR-A",
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                {
                    "name": "Glutamate receptor ionotropic, AMPA 1",
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                },
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                {
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                    "name": "glutamate receptor ionotropic, AMPA 1",
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                }
            ],
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                    "name": "Gria1",
                    "type": "recommended"
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                {
                    "name": "2900051M01Rik",
                    "type": "synonym"
                },
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                    "name": "Glr-1",
                    "type": "synonym"
                },
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                    "name": "Glr1",
                    "type": "synonym"
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                {
                    "name": "GluA1",
                    "type": "synonym"
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                    "name": "Glur-1",
                    "type": "synonym"
                },
                {
                    "name": "Glur1",
                    "type": "synonym"
                },
                {
                    "name": "Gria1",
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                },
                {
                    "name": "HIPA1",
                    "type": "synonym"
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                {
                    "name": "gluR-K1",
                    "type": "synonym"
                }
            ],
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        },
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            "uniprot_canonical_ac": "P42261-1",
            "uniprot_ac": "P42261",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Glutamate receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "AMPA 1",
                    "type": "synonym"
                },
                {
                    "name": "AMPA receptor subunit GluA1",
                    "type": "synonym"
                },
                {
                    "name": "AMPA-selective glutamate receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "GluR-1",
                    "type": "synonym"
                },
                {
                    "name": "GluR-A",
                    "type": "synonym"
                },
                {
                    "name": "GluR-K1",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate receptor ionotropic, AMPA 1",
                    "type": "synonym"
                },
                {
                    "name": "gluR-1",
                    "type": "synonym"
                },
                {
                    "name": "gluR-A",
                    "type": "synonym"
                },
                {
                    "name": "gluR-K1",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor 1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor, ionotropic, AMPA 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRIA1",
                    "type": "recommended"
                },
                {
                    "name": "GLUA1",
                    "type": "synonym"
                },
                {
                    "name": "GLUH1",
                    "type": "synonym"
                },
                {
                    "name": "GLUR1",
                    "type": "synonym"
                },
                {
                    "name": "GLURA",
                    "type": "synonym"
                },
                {
                    "name": "GRIA1",
                    "type": "synonym"
                },
                {
                    "name": "GluA1",
                    "type": "synonym"
                },
                {
                    "name": "HBGR1",
                    "type": "synonym"
                },
                {
                    "name": "MRD67",
                    "type": "synonym"
                },
                {
                    "name": "MRT76",
                    "type": "synonym"
                }
            ],
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                    "id": "619931",
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                    "url": "https://www.omim.org/entry/619931"
                },
                {
                    "id": "0081235",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19490-1",
            "uniprot_ac": "P19490",
            "uniprot_id": "GRIA1_RAT",
            "refseq_ac": "NP_113796",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Glutamate receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "AMPA-selective glutamate receptor 1",
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                    "name": "GluR-1",
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                },
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                    "name": "GluR-A",
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                },
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                    "name": "GluR-K1",
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                    "name": "Glutamate receptor ionotropic, AMPA 1",
                    "type": "synonym"
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                {
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                    "type": "synonym"
                },
                {
                    "name": "gluR-K1",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor 1",
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                },
                {
                    "name": "glutamate receptor A",
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                },
                {
                    "name": "glutamate receptor subunit GluR1",
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                {
                    "name": "glutamate receptor, ionotropic, AMPA 1",
                    "type": "synonym"
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                {
                    "name": "glutamate receptor, ionotropic, AMPA1 (alpha 1)",
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                }
            ],
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                {
                    "name": "Gria1",
                    "type": "recommended"
                },
                {
                    "name": "GluA1",
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                },
                {
                    "name": "Glur1",
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                },
                {
                    "name": "Gria1",
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            "uniprot_canonical_ac": "M9PHV5-1",
            "uniprot_ac": "M9PHV5",
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                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "CG43743-PB",
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                    "name": "Glutamate receptor IB, isoform B",
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                {
                    "name": "glutamate receptor IB, isoform B",
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                    "name": "glutamate receptor",
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            ],
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                    "name": "GluRIB",
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                    "name": "CG42509",
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                    "name": "CG4481",
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                {
                    "name": "Dm_3L:43677",
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                    "name": "DmelGlu-R1B",
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                    "id": "0081235",
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            "uniprot_canonical_ac": "Q03445-1",
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                    "name": "Drosophila melanogaster",
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                }
            ],
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                    "name": "Glutamate receptor 1",
                    "type": "recommended"
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                    "name": "CG8442-PA",
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                {
                    "name": "GluRIA-PA",
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                {
                    "name": "Glutamate receptor I",
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                },
                {
                    "name": "Kainate-selective glutamate receptor",
                    "type": "synonym"
                },
                {
                    "name": "dGLUR-I",
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                {
                    "name": "glutamate receptor IA",
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                },
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                    "name": "glutamate receptor I",
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                {
                    "name": "glutamate receptor kainate-selective subunit",
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                {
                    "name": "glutamate receptor subunit",
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                {
                    "name": "kainate receptor",
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                }
            ],
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                    "name": "GluRIA",
                    "type": "recommended"
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                {
                    "name": "CG8442",
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                },
                {
                    "name": "DGluR-IA",
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                {
                    "name": "DGluR-I",
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                },
                {
                    "name": "DGluRI",
                    "type": "synonym"
                },
                {
                    "name": "DmelGlu-R1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8442",
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                },
                {
                    "name": "Dro GluRIA",
                    "type": "synonym"
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                {
                    "name": "Glu-R1",
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                {
                    "name": "Glu-RI",
                    "type": "synonym"
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                {
                    "name": "GluR1A",
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                },
                {
                    "name": "GluR1",
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                {
                    "name": "GluRIA",
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                {
                    "name": "GluRIIA",
                    "type": "synonym"
                },
                {
                    "name": "GluRI",
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                },
                {
                    "name": "dGluRI",
                    "type": "synonym"
                },
                {
                    "name": "dglur-IA",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0081235",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081235"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081235"
}