{
    "disease_id": "DOID:0080286",
    "recommended_name": {
        "id": "DOID:0080286",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080286",
        "name": "spinocerebellar ataxia 44",
        "description": "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24."
    },
    "synonyms": [
        {
            "id": "MONDO:0033479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033479",
            "name": "spinocerebellar ataxia 44",
            "description": ""
        },
        {
            "id": "MONDO:0033479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033479",
            "name": "spinocerebellar ataxia 44",
            "description": ""
        },
        {
            "id": "MONDO:0033479",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033479",
            "name": "SCA44",
            "description": ""
        },
        {
            "id": "MIM:617691",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617691",
            "name": "Spinocerebellar ataxia 44",
            "description": "Spinocerebellar ataxia 44"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080286"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080286",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080286",
            "categories": []
        },
        {
            "id": "MONDO:0033479",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033479",
            "categories": []
        },
        {
            "id": "MIM:617691",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617691",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IU63-1",
            "uniprot_ac": "A0A0R4IU63",
            "uniprot_id": "A0A0R4IU63_DANRE",
            "refseq_ac": "NP_001289181",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metabotropic glutamate receptor 5",
                    "type": "recommended"
                },
                {
                    "name": "glutamate receptor, metabotropic 1",
                    "type": "synonym"
                },
                {
                    "name": "metabotropic glutamate receptor 1b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grm1b",
                    "type": "recommended"
                },
                {
                    "name": "grm1a",
                    "type": "synonym"
                },
                {
                    "name": "grm1b",
                    "type": "synonym"
                },
                {
                    "name": "grm1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-278p9.5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IU63-1",
            "evidence": [
                {
                    "id": "0080286",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080286"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A2R9YJL7-1",
            "uniprot_ac": "A0A2R9YJL7",
            "uniprot_id": "A0A2R9YJL7_DANRE",
            "refseq_ac": "XP_002665785",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metabotropic glutamate receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "metabotropic glutamate receptor 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "grm1a",
                    "type": "recommended"
                },
                {
                    "name": "grm1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R9YJL7-1",
            "evidence": [
                {
                    "id": "0080286",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080286"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97772-1",
            "uniprot_ac": "P97772",
            "uniprot_id": "GRM1_MOUSE",
            "refseq_ac": "NP_001107805",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metabotropic glutamate receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "G protein-coupled receptor, family C, group 1, member A",
                    "type": "synonym"
                },
                {
                    "name": "mGluR1",
                    "type": "synonym"
                },
                {
                    "name": "metabotropic glutamate receptor 1 isoform beta precursor",
                    "type": "synonym"
                },
                {
                    "name": "metabotropic glutamate receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grm1",
                    "type": "recommended"
                },
                {
                    "name": "4930455H15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gm10828",
                    "type": "synonym"
                },
                {
                    "name": "Gprc1a",
                    "type": "synonym"
                },
                {
                    "name": "Grm1",
                    "type": "synonym"
                },
                {
                    "name": "Mglur1",
                    "type": "synonym"
                },
                {
                    "name": "mGluR1",
                    "type": "synonym"
                },
                {
                    "name": "nmf373",
                    "type": "synonym"
                },
                {
                    "name": "rcw",
                    "type": "synonym"
                },
                {
                    "name": "wobl",
                    "type": "synonym"
                }
            ],
            "record_id": "P97772-1",
            "evidence": [
                {
                    "id": "0080286",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080286"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13255-1",
            "uniprot_ac": "Q13255",
            "uniprot_id": "GRM1_HUMAN",
            "refseq_ac": "NP_001264993",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metabotropic glutamate receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "glutamate receptor, metabotropic 1",
                    "type": "synonym"
                },
                {
                    "name": "mGluR1",
                    "type": "synonym"
                },
                {
                    "name": "metabotropic glutamate receptor 1 isoform alpha precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 85",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GRM1",
                    "type": "recommended"
                },
                {
                    "name": "GPRC1A",
                    "type": "synonym"
                },
                {
                    "name": "GRM1",
                    "type": "synonym"
                },
                {
                    "name": "MGLU1",
                    "type": "synonym"
                },
                {
                    "name": "MGLUR1",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R85",
                    "type": "synonym"
                },
                {
                    "name": "SCA44",
                    "type": "synonym"
                },
                {
                    "name": "SCAR13",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13255-1",
            "evidence": [
                {
                    "id": "617691",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617691"
                },
                {
                    "id": "0080286",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080286"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23385-1",
            "uniprot_ac": "P23385",
            "uniprot_id": "GRM1_RAT",
            "refseq_ac": "NP_001107802",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Metabotropic glutamate receptor 1",
                    "type": "recommended"
                },
                {
                    "name": "G protein coupled receptor family C group 1 member A",
                    "type": "synonym"
                },
                {
                    "name": "glutamate receptor, metabotropic 1",
                    "type": "synonym"
                },
                {
                    "name": "mGluR1",
                    "type": "synonym"
                },
                {
                    "name": "metabotropic glutamate receptor 1 isoform beta precursor",
                    "type": "synonym"
                },
                {
                    "name": "metabotropic glutamate receptor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Grm1",
                    "type": "recommended"
                },
                {
                    "name": "Lrrc15",
                    "type": "recommended"
                },
                {
                    "name": "Gprc1a",
                    "type": "synonym"
                },
                {
                    "name": "Grm1",
                    "type": "synonym"
                },
                {
                    "name": "Mglur1",
                    "type": "synonym"
                }
            ],
            "record_id": "P23385-1",
            "evidence": [
                {
                    "id": "0080286",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080286"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UMR2-1",
            "uniprot_ac": "Q9UMR2",
            "uniprot_id": "DD19B_HUMAN",
            "refseq_ac": "NP_001014449",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent RNA helicase DDX19B",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.13",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase DDX19B isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase DDX19B",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent RNA helicase DDX19",
                    "type": "synonym"
                },
                {
                    "name": "DEAD (Asp-Glu-Ala-As) box polypeptide 19B",
                    "type": "synonym"
                },
                {
                    "name": "DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B",
                    "type": "synonym"
                },
                {
                    "name": "DEAD box RNA helicase DEAD5",
                    "type": "synonym"
                },
                {
                    "name": "DEAD box protein 19B",
                    "type": "synonym"
                },
                {
                    "name": "DEAD-box RNA helicase DEAD5",
                    "type": "synonym"
                },
                {
                    "name": "DEAD-box protein 5",
                    "type": "synonym"
                },
                {
                    "name": "DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)",
                    "type": "synonym"
                },
                {
                    "name": "dead box protein 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "yeast Dbp5 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DDX19B",
                    "type": "recommended"
                },
                {
                    "name": "DBP5",
                    "type": "synonym"
                },
                {
                    "name": "DDX19B",
                    "type": "synonym"
                },
                {
                    "name": "DDX19",
                    "type": "synonym"
                },
                {
                    "name": "RNAh",
                    "type": "synonym"
                },
                {
                    "name": "TDBP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UMR2-1",
            "evidence": [
                {
                    "id": "0080286",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080286"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080286"
}