{
    "disease_id": "DOID:0050977",
    "recommended_name": {
        "id": "DOID:0050977",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050977",
        "name": "spinocerebellar ataxia 28",
        "description": "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0012450",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012450",
            "name": "spinocerebellar ataxia type 28",
            "description": "Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration."
        },
        {
            "id": "MONDO:0012450",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012450",
            "name": "SCA28",
            "description": ""
        },
        {
            "id": "MONDO:0012450",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012450",
            "name": "spinocerebellar ataxia type 28",
            "description": ""
        },
        {
            "id": "MONDO:0012450",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012450",
            "name": "spinocerebellar ataxia 28",
            "description": ""
        },
        {
            "id": "MIM:610246",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610246",
            "name": "Spinocerebellar ataxia 28",
            "description": "Spinocerebellar ataxia 28"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050977"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050977",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050977",
            "categories": []
        },
        {
            "id": "MONDO:0012450",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012450",
            "categories": []
        },
        {
            "id": "MIM:610246",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610246",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8JZQ2-1",
            "uniprot_ac": "Q8JZQ2",
            "uniprot_id": "AFG32_MOUSE",
            "refseq_ac": "NP_081406",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "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-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane m-AAA protease component AFG3L2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Afg3l2",
                    "type": "recommended"
                },
                {
                    "name": "2310036I02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Afg3l2",
                    "type": "synonym"
                },
                {
                    "name": "Emv66",
                    "type": "synonym"
                },
                {
                    "name": "par",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8JZQ2-1",
            "evidence": [
                {
                    "id": "0050977",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050977"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q920A7-1",
            "uniprot_ac": "Q920A7",
            "uniprot_id": "AFG31_MOUSE",
            "refseq_ac": "NP_473411",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane m-AAA protease component AFG3L1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "3.6.-.-",
                    "type": "synonym"
                },
                {
                    "name": "AFG3(ATPase family gene 3)-like 1",
                    "type": "synonym"
                },
                {
                    "name": "AFG3-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial inner membrane m-AAA protease component AFG3L1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Afg3l1",
                    "type": "recommended"
                },
                {
                    "name": "1700047G05Rik",
                    "type": "synonym"
                },
                {
                    "name": "3110061K15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Afg3l1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q920A7-1",
            "evidence": [
                {
                    "id": "0050977",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050977"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y4W6-1",
            "uniprot_ac": "Q9Y4W6",
            "uniprot_id": "AFG32_HUMAN",
            "refseq_ac": "NP_006787",
            "glycoprotein": "yes",
            "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": "610246",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610246"
                },
                {
                    "id": "0050977",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050977"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39925-1",
            "uniprot_ac": "P39925",
            "uniprot_id": "AFG3_YEAST",
            "refseq_ac": "NP_010933",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane m-AAA protease component YTA10",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "3.6.-.-",
                    "type": "synonym"
                },
                {
                    "name": "AAA family ATPase AFG3",
                    "type": "synonym"
                },
                {
                    "name": "ATPase family gene 3 protein",
                    "type": "synonym"
                },
                {
                    "name": "Tat-binding homolog 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AFG3",
                    "type": "recommended"
                },
                {
                    "name": "AFG3",
                    "type": "synonym"
                },
                {
                    "name": "YTA10",
                    "type": "synonym"
                }
            ],
            "record_id": "P39925-1",
            "evidence": [
                {
                    "id": "0050977",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050977"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40341-1",
            "uniprot_ac": "P40341",
            "uniprot_id": "YTA12_YEAST",
            "refseq_ac": "NP_013807",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial inner membrane m-AAA protease component YTA12",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "3.6.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Tat-binding homolog 12",
                    "type": "synonym"
                },
                {
                    "name": "m-AAA protease subunit YTA12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YTA12",
                    "type": "recommended"
                },
                {
                    "name": "RCA1",
                    "type": "synonym"
                },
                {
                    "name": "YM9582.14C",
                    "type": "synonym"
                },
                {
                    "name": "YTA12",
                    "type": "synonym"
                }
            ],
            "record_id": "P40341-1",
            "evidence": [
                {
                    "id": "0050977",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050977"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LN92-1",
            "uniprot_ac": "F1LN92",
            "uniprot_id": "F1LN92_RAT",
            "refseq_ac": "NP_001128336",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "AFG3 ATPase family member 3-like 2",
                    "type": "synonym"
                },
                {
                    "name": "AFG3 like matrix AAA peptidase subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "AFG3-like AAA ATPase 2",
                    "type": "synonym"
                },
                {
                    "name": "AFG3-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Afg3l2",
                    "type": "recommended"
                },
                {
                    "name": "Afg3l2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LN92-1",
            "evidence": [
                {
                    "id": "0050977",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050977"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZQ14-1",
            "uniprot_ac": "A0A8I5ZQ14",
            "uniprot_id": "A0A8I5ZQ14_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "AFG3 (ATPase family gene 3)-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Afg3l1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZQ14-1",
            "evidence": [
                {
                    "id": "0050977",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050977"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050977"
}