{
    "disease_id": "DOID:0080042",
    "recommended_name": {
        "id": "DOID:0080042",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080042",
        "name": "autosomal recessive spinocerebellar ataxia 18",
        "description": "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080042",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080042",
            "name": "SCAR18",
            "description": ""
        },
        {
            "id": "MONDO:0014530",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014530",
            "name": "autosomal recessive spinocerebellar ataxia 18",
            "description": "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected."
        },
        {
            "id": "MONDO:0014530",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014530",
            "name": "GRID2 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014530",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014530",
            "name": "GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014530",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014530",
            "name": "SCAR18",
            "description": ""
        },
        {
            "id": "MONDO:0014530",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014530",
            "name": "autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRID2",
            "description": ""
        },
        {
            "id": "MONDO:0014530",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014530",
            "name": "autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2",
            "description": ""
        },
        {
            "id": "MONDO:0014530",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014530",
            "name": "autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014530",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014530",
            "name": "autosomal recessive spinocerebellar ataxia type 18",
            "description": ""
        },
        {
            "id": "MONDO:0014530",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014530",
            "name": "spinocerebellar ataxia, autosomal recessive type 18",
            "description": ""
        },
        {
            "id": "MONDO:0014530",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014530",
            "name": "spinocerebellar ataxia, autosomal recessive 18",
            "description": ""
        },
        {
            "id": "MIM:616204",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616204",
            "name": "Spinocerebellar ataxia, autosomal recessive, 18",
            "description": "Spinocerebellar ataxia, autosomal recessive, 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080042"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080042",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080042",
            "categories": []
        },
        {
            "id": "MONDO:0014530",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014530",
            "categories": []
        },
        {
            "id": "MIM:616204",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616204",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q68Y21-1",
            "uniprot_ac": "Q68Y21",
            "uniprot_id": "GRID2_DANRE",
            "refseq_ac": "NP_001004123",
            "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, delta-2",
                    "type": "recommended"
                },
                {
                    "name": "GluD2",
                    "type": "synonym"
                },
                {
                    "name": "GluR delta-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "gluR delta-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor delta-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, delta-2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grid2",
                    "type": "recommended"
                },
                {
                    "name": "GluD2",
                    "type": "synonym"
                },
                {
                    "name": "glurd2",
                    "type": "synonym"
                },
                {
                    "name": "grid2",
                    "type": "synonym"
                },
                {
                    "name": "si:rp71-1l7.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68Y21-1",
            "evidence": [
                {
                    "id": "0080042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080042"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61625-1",
            "uniprot_ac": "Q61625",
            "uniprot_id": "GRID2_MOUSE",
            "refseq_ac": "NP_032193",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate receptor ionotropic, delta-2",
                    "type": "recommended"
                },
                {
                    "name": "GluD2",
                    "type": "synonym"
                },
                {
                    "name": "GluR delta-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "creeper",
                    "type": "synonym"
                },
                {
                    "name": "gluR delta-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor delta-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, delta-2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "hotfoot",
                    "type": "synonym"
                },
                {
                    "name": "lurcher",
                    "type": "synonym"
                },
                {
                    "name": "minisatellite 10ac detected by probe MMS10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grid2",
                    "type": "recommended"
                },
                {
                    "name": "B230104L07Rik",
                    "type": "synonym"
                },
                {
                    "name": "GluD2",
                    "type": "synonym"
                },
                {
                    "name": "GluRdelta2",
                    "type": "synonym"
                },
                {
                    "name": "Grid2",
                    "type": "synonym"
                },
                {
                    "name": "Lc<J>",
                    "type": "synonym"
                },
                {
                    "name": "Lc",
                    "type": "synonym"
                },
                {
                    "name": "MMS10-AC",
                    "type": "synonym"
                },
                {
                    "name": "Ms10ac",
                    "type": "synonym"
                },
                {
                    "name": "cpr",
                    "type": "synonym"
                },
                {
                    "name": "ho",
                    "type": "synonym"
                },
                {
                    "name": "nmf408",
                    "type": "synonym"
                },
                {
                    "name": "tpr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61625-1",
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                {
                    "id": "0080042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080042"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43424-1",
            "uniprot_ac": "O43424",
            "uniprot_id": "GRID2_HUMAN",
            "refseq_ac": "NP_001273767",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate receptor ionotropic, delta-2",
                    "type": "recommended"
                },
                {
                    "name": "GluD2",
                    "type": "synonym"
                },
                {
                    "name": "GluR delta-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "gluR delta-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor delta-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, delta-2 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor, ionotropic, delta 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRID2",
                    "type": "recommended"
                },
                {
                    "name": "GLURD2",
                    "type": "synonym"
                },
                {
                    "name": "GRID2",
                    "type": "synonym"
                },
                {
                    "name": "GluD2",
                    "type": "synonym"
                },
                {
                    "name": "SCAR18",
                    "type": "synonym"
                }
            ],
            "record_id": "O43424-1",
            "evidence": [
                {
                    "id": "616204",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616204"
                },
                {
                    "id": "0080042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080042"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63226-1",
            "uniprot_ac": "Q63226",
            "uniprot_id": "GRID2_RAT",
            "refseq_ac": "NP_077355",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate receptor ionotropic, delta-2",
                    "type": "recommended"
                },
                {
                    "name": "GluD2",
                    "type": "synonym"
                },
                {
                    "name": "GluR delta-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "gluR delta-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor delta-2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, delta-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor ionotropic, delta-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grid2",
                    "type": "recommended"
                },
                {
                    "name": "GluD2",
                    "type": "synonym"
                },
                {
                    "name": "Grid2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080042",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080042"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W365-1",
            "uniprot_ac": "Q9W365",
            "uniprot_id": "IR8A_DROME",
            "refseq_ac": "NP_727328",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ionotropic receptor coreceptor Ir8a",
                    "type": "recommended"
                },
                {
                    "name": "CG32704-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ionotropic receptor 8a",
                    "type": "synonym"
                },
                {
                    "name": "Ir8a-PA",
                    "type": "synonym"
                },
                {
                    "name": "ionotropic receptor 8a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ir8a",
                    "type": "recommended"
                },
                {
                    "name": "8a",
                    "type": "synonym"
                },
                {
                    "name": "CG12122",
                    "type": "synonym"
                },
                {
                    "name": "CG12666",
                    "type": "synonym"
                },
                {
                    "name": "CG32704",
                    "type": "synonym"
                },
                {
                    "name": "CT7438",
                    "type": "synonym"
                },
                {
                    "name": "DmelIR8a",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32704",
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                },
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                    "id": "0080042",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080042"
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        },
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            "uniprot_canonical_ac": "E9NA96-1",
            "uniprot_ac": "E9NA96",
            "uniprot_id": "IR25A_DROME",
            "refseq_ac": "NP_001260049",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ionotropic receptor 25a",
                    "type": "recommended"
                },
                {
                    "name": "CG15627-PC",
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                },
                {
                    "name": "Ir25a-PC",
                    "type": "synonym"
                },
                {
                    "name": "ionotropic receptor 25a, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "ionotropic receptor 25a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ir25a",
                    "type": "recommended"
                },
                {
                    "name": "25a",
                    "type": "synonym"
                },
                {
                    "name": "CG15627",
                    "type": "synonym"
                },
                {
                    "name": "CT35778",
                    "type": "synonym"
                },
                {
                    "name": "DmelIR25a",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15627",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15627",
                    "type": "synonym"
                },
                {
                    "name": "IR25a",
                    "type": "synonym"
                },
                {
                    "name": "Ir25a",
                    "type": "synonym"
                },
                {
                    "name": "ir25a",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0080042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080042"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080042"
}