{
    "disease_id": "DOID:0070002",
    "recommended_name": {
        "id": "DOID:0070002",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070002",
        "name": "3-methylglutaconic aciduria type 9",
        "description": "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070002",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070002",
            "name": "3-methylglutaconic acuduria type IX, MGCA9",
            "description": ""
        },
        {
            "id": "MONDO:0044724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044724",
            "name": "3-methylglutaconic aciduria type 9",
            "description": ""
        },
        {
            "id": "MONDO:0044724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044724",
            "name": "3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044724",
            "name": "MGA9",
            "description": ""
        },
        {
            "id": "MONDO:0044724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044724",
            "name": "MGCA9",
            "description": ""
        },
        {
            "id": "MIM:617698",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617698",
            "name": "3-methylglutaconic aciduria 9",
            "description": "3-methylglutaconic aciduria 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070002"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070002",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070002",
            "categories": []
        },
        {
            "id": "MONDO:0044724",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044724",
            "categories": []
        },
        {
            "id": "MIM:617698",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617698",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6NWD4-1",
            "uniprot_ac": "Q6NWD4",
            "uniprot_id": "TIM50_DANRE",
            "refseq_ac": "NP_956959",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial import inner membrane translocase subunit TIM50",
                    "type": "recommended"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit TIM50 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit TIM50",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "timm50",
                    "type": "recommended"
                },
                {
                    "name": "tim50",
                    "type": "synonym"
                },
                {
                    "name": "timm50",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66357",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NWD4-1",
            "evidence": [
                {
                    "id": "0070002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D880-1",
            "uniprot_ac": "Q9D880",
            "uniprot_id": "TIM50_MOUSE",
            "refseq_ac": "NP_079892",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial import inner membrane translocase subunit TIM50",
                    "type": "recommended"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit TIM50 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit TIM50",
                    "type": "synonym"
                },
                {
                    "name": "translocase of inner mitochondrial membrane 50 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Timm50",
                    "type": "recommended"
                },
                {
                    "name": "2810403L02Rik",
                    "type": "synonym"
                },
                {
                    "name": "TIM50L",
                    "type": "synonym"
                },
                {
                    "name": "Tim50",
                    "type": "synonym"
                },
                {
                    "name": "Timm50",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D880-1",
            "evidence": [
                {
                    "id": "0070002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3ZCQ8-1",
            "uniprot_ac": "Q3ZCQ8",
            "uniprot_id": "TIM50_HUMAN",
            "refseq_ac": "NP_001316488",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial import inner membrane translocase subunit TIM50",
                    "type": "recommended"
                },
                {
                    "name": "Tim50-like protein",
                    "type": "synonym"
                },
                {
                    "name": "homolog of yeast Tim50",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit TIM50 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit TIM50",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TIMM50",
                    "type": "recommended"
                },
                {
                    "name": "MGCA9",
                    "type": "synonym"
                },
                {
                    "name": "PRO1512",
                    "type": "synonym"
                },
                {
                    "name": "TIM50L",
                    "type": "synonym"
                },
                {
                    "name": "TIM50",
                    "type": "synonym"
                },
                {
                    "name": "TIMM50",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3ZCQ8-1",
            "evidence": [
                {
                    "id": "617698",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617698"
                },
                {
                    "id": "0070002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02776-1",
            "uniprot_ac": "Q02776",
            "uniprot_id": "TIM50_YEAST",
            "refseq_ac": "NP_015262",
            "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 import inner membrane translocase subunit TIM50",
                    "type": "recommended"
                },
                {
                    "name": "protein translocase subunit TIM50",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TIM50",
                    "type": "recommended"
                },
                {
                    "name": "TIM50",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02776-1",
            "evidence": [
                {
                    "id": "0070002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZJX5-1",
            "uniprot_ac": "D3ZJX5",
            "uniprot_id": "D3ZJX5_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": "Mitochondrial import inner membrane translocase subunit TIM50",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Timm50",
                    "type": "recommended"
                },
                {
                    "name": "LOC687295",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZJX5-1",
            "evidence": [
                {
                    "id": "0070002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0S3-1",
            "uniprot_ac": "Q9W0S3",
            "uniprot_id": "TI50B_DROME",
            "refseq_ac": "NP_612023",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial import inner membrane translocase subunit TIM50-B",
                    "type": "recommended"
                },
                {
                    "name": "CG12313-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tiny tim 2",
                    "type": "synonym"
                },
                {
                    "name": "tiny tim 2",
                    "type": "synonym"
                },
                {
                    "name": "ttm2-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ttm2",
                    "type": "recommended"
                },
                {
                    "name": "20130405",
                    "type": "synonym"
                },
                {
                    "name": "CG12313",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12313",
                    "type": "synonym"
                },
                {
                    "name": "ttm2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0S3-1",
            "evidence": [
                {
                    "id": "0070002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W4V8-1",
            "uniprot_ac": "Q9W4V8",
            "uniprot_id": "TI50C_DROME",
            "refseq_ac": "NP_001303557",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial import inner membrane translocase subunit TIM50-C",
                    "type": "recommended"
                },
                {
                    "name": "CG2713-PB",
                    "type": "synonym"
                },
                {
                    "name": "Gp99",
                    "type": "synonym"
                },
                {
                    "name": "Tiny tim 50",
                    "type": "synonym"
                },
                {
                    "name": "tiny tim 50, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "ttm50-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ttm50",
                    "type": "recommended"
                },
                {
                    "name": "17944223",
                    "type": "synonym"
                },
                {
                    "name": "CG2713",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2713",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2713",
                    "type": "synonym"
                },
                {
                    "name": "EG:95B7.3",
                    "type": "synonym"
                },
                {
                    "name": "Gp99",
                    "type": "synonym"
                },
                {
                    "name": "Ttm50",
                    "type": "synonym"
                },
                {
                    "name": "i238",
                    "type": "synonym"
                },
                {
                    "name": "i90",
                    "type": "synonym"
                },
                {
                    "name": "ttm50",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W4V8-1",
            "evidence": [
                {
                    "id": "0070002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V9P3-1",
            "uniprot_ac": "Q9V9P3",
            "uniprot_id": "TI50A_DROME",
            "refseq_ac": "NP_610130",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial import inner membrane translocase subunit TIM50-A",
                    "type": "recommended"
                },
                {
                    "name": "CG6691-PA",
                    "type": "synonym"
                },
                {
                    "name": "Tiny tim 3",
                    "type": "synonym"
                },
                {
                    "name": "tiny tim 3",
                    "type": "synonym"
                },
                {
                    "name": "ttm3-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ttm3",
                    "type": "recommended"
                },
                {
                    "name": "CG6691",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6691",
                    "type": "synonym"
                },
                {
                    "name": "ttm3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V9P3-1",
            "evidence": [
                {
                    "id": "0070002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070002"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070002"
}