{
    "disease_id": "DOID:0050952",
    "recommended_name": {
        "id": "DOID:0050952",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050952",
        "name": "spastic ataxia",
        "description": "A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0050772",
            "label": "spastic ataxia 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050941",
            "label": "spastic ataxia 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050942",
            "label": "spastic ataxia 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050943",
            "label": "spastic ataxia 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050944",
            "label": "spastic ataxia 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080252",
            "label": "spastic ataxia 8",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0050772",
        "DOID:0050943",
        "DOID:0050944",
        "DOID:0050942",
        "DOID:0050952",
        "DOID:0050941",
        "DOID:0080252"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050952",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050952",
            "categories": []
        }
    ],
    "proteins": [
        {
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            "uniprot_ac": "A9JR86",
            "uniprot_id": "COQ4_DANRE",
            "refseq_ac": "NP_001108192",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "4.1.1.130",
                    "type": "synonym"
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                {
                    "name": "Coenzyme Q biosynthesis protein 4 homolog",
                    "type": "synonym"
                },
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                    "type": "synonym"
                }
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                {
                    "name": "coq4",
                    "type": "recommended"
                },
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                    "name": "COQ4",
                    "type": "synonym"
                },
                {
                    "name": "coq4",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-170o10.3",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050952",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050952"
                }
            ]
        },
        {
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                {
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                    "glygen_name": "Mouse",
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                }
            ],
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                    "name": "coenzyme Q biosynthesis protein 4 homolog",
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                    "type": "synonym"
                }
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                    "name": "D2Ertd97e",
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                }
            ],
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                    "id": "0050952",
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                }
            ]
        },
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                    "common_name": "Mouse",
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                }
            ],
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                    "name": "Mitochondrial inner membrane m-AAA protease component AFG3L2",
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                },
                {
                    "name": "3.4.24.-",
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                {
                    "name": "3.6.-.-",
                    "type": "synonym"
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            ],
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                {
                    "name": "Afg3l2",
                    "type": "synonym"
                },
                {
                    "name": "Emv66",
                    "type": "synonym"
                },
                {
                    "name": "par",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050952",
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                }
            ]
        },
        {
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                {
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                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
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                }
            ],
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                {
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                    "type": "recommended"
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                {
                    "name": "Calcineurin B-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-binding protein CHP",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-binding protein p22",
                    "type": "synonym"
                },
                {
                    "name": "EF-hand calcium-binding domain-containing protein p22",
                    "type": "synonym"
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                {
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                    "type": "synonym"
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                    "type": "synonym"
                },
                {
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                    "type": "synonym"
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                {
                    "name": "calcineurin homologous protein",
                    "type": "synonym"
                },
                {
                    "name": "calcium binding protein P22",
                    "type": "synonym"
                },
                {
                    "name": "calcium-binding protein CHP",
                    "type": "synonym"
                },
                {
                    "name": "calcium-binding protein p22",
                    "type": "synonym"
                },
                {
                    "name": "p24",
                    "type": "synonym"
                },
                {
                    "name": "sid 470",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Chp1",
                    "type": "recommended"
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                    "name": "1500003O03Rik",
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                },
                {
                    "name": "Cahp",
                    "type": "synonym"
                },
                {
                    "name": "Chp1",
                    "type": "synonym"
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                {
                    "name": "Chp",
                    "type": "synonym"
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                {
                    "name": "Sid470p",
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                },
                {
                    "name": "Sid470",
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                {
                    "name": "p24",
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                },
                {
                    "name": "vac",
                    "type": "synonym"
                }
            ],
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                    "id": "0050952",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050952"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O13525-1",
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                }
            ],
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                    "name": "YD8142.01",
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                    "id": "0050952",
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                }
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                    "name": "AAA family ATPase AFG3",
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                    "id": "0050952",
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            ],
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                }
            ],
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                {
                    "id": "0050952",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050952"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VNF9-1",
            "uniprot_ac": "Q9VNF9",
            "uniprot_id": "Q9VNF9_DROME",
            "refseq_ac": "NP_001262295",
            "glycoprotein": "no",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "CG2185-PB",
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                },
                {
                    "name": "Calcineurin2",
                    "type": "synonym"
                },
                {
                    "name": "Ethanol sensitive with low memory, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Ethanol sensitive with low memory, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "elm-PB",
                    "type": "synonym"
                },
                {
                    "name": "ethanol sensitive with low memory, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "elm",
                    "type": "recommended"
                },
                {
                    "name": "CG2185",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2185",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2185",
                    "type": "synonym"
                },
                {
                    "name": "elm",
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                }
            ],
            "record_id": "Q9VNF9-1",
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                {
                    "id": "0050952",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050952"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99653-1",
            "uniprot_ac": "Q99653",
            "uniprot_id": "CHP1_HUMAN",
            "refseq_ac": "NP_009167",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcineurin B homologous protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Calcineurin B-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-binding protein CHP",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-binding protein p22",
                    "type": "synonym"
                },
                {
                    "name": "EF-hand calcium-binding domain-containing protein p22",
                    "type": "synonym"
                },
                {
                    "name": "SLC9A1 binding protein",
                    "type": "synonym"
                },
                {
                    "name": "calcineurin B homologous protein 1",
                    "type": "synonym"
                },
                {
                    "name": "calcineurin B homolog",
                    "type": "synonym"
                },
                {
                    "name": "calcineurin B-like protein",
                    "type": "synonym"
                },
                {
                    "name": "calcineurin homologous protein",
                    "type": "synonym"
                },
                {
                    "name": "calcium binding protein P22",
                    "type": "synonym"
                },
                {
                    "name": "calcium-binding protein CHP",
                    "type": "synonym"
                },
                {
                    "name": "calcium-binding protein p22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHP1",
                    "type": "recommended"
                },
                {
                    "name": "CHP1",
                    "type": "synonym"
                },
                {
                    "name": "CHP",
                    "type": "synonym"
                },
                {
                    "name": "SLC9A1BP",
                    "type": "synonym"
                },
                {
                    "name": "SPAX9",
                    "type": "synonym"
                },
                {
                    "name": "Sid470p",
                    "type": "synonym"
                },
                {
                    "name": "p22",
                    "type": "synonym"
                },
                {
                    "name": "p24",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99653-1",
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                {
                    "id": "0050952",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050952"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y4W6-1",
            "uniprot_ac": "Q9Y4W6",
            "uniprot_id": "AFG32_HUMAN",
            "refseq_ac": "NP_006787",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane m-AAA protease component AFG3L2",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "3.6.-.-",
                    "type": "synonym"
                },
                {
                    "name": "AFG3 ATPase family gene 3-like 2",
                    "type": "synonym"
                },
                {
                    "name": "AFG3 ATPase family member 3-like 2",
                    "type": "synonym"
                },
                {
                    "name": "AFG3 like AAA ATPase 2",
                    "type": "synonym"
                },
                {
                    "name": "AFG3-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "ATPase family gene 3, yeast",
                    "type": "synonym"
                },
                {
                    "name": "Paraplegin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane m-AAA protease component AFG3L2",
                    "type": "synonym"
                },
                {
                    "name": "paraplegin-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AFG3L2",
                    "type": "recommended"
                },
                {
                    "name": "AFG3L2",
                    "type": "synonym"
                },
                {
                    "name": "OPA12",
                    "type": "synonym"
                },
                {
                    "name": "SCA28",
                    "type": "synonym"
                },
                {
                    "name": "SPAX5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y4W6-1",
            "evidence": [
                {
                    "id": "0050952",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050952"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y3A0-1",
            "uniprot_ac": "Q9Y3A0",
            "uniprot_id": "COQ4_HUMAN",
            "refseq_ac": "NP_057119",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquinone biosynthesis protein COQ4 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4-hydroxy-3-methoxy-5-polyprenylbenzoate decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "4.1.1.130",
                    "type": "synonym"
                },
                {
                    "name": "Coenzyme Q biosynthesis protein 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q biosynthesis protein 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "coenzyme Q4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis protein COQ4 homolog, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ubiquinone biosynthesis protein COQ4 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COQ4",
                    "type": "recommended"
                },
                {
                    "name": "CGI-92",
                    "type": "synonym"
                },
                {
                    "name": "COQ10D7",
                    "type": "synonym"
                },
                {
                    "name": "COQ4",
                    "type": "synonym"
                },
                {
                    "name": "SPAX10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y3A0-1",
            "evidence": [
                {
                    "id": "0050952",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050952"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050952"
}