{
    "disease_id": "DOID:0110000",
    "recommended_name": {
        "id": "DOID:0110000",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110000",
        "name": "3-methylglutaconic aciduria type 5",
        "description": "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26."
    },
    "synonyms": [
        {
            "id": "DOID:0110000",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110000",
            "name": "3-methylglutaconic aciduria type V",
            "description": ""
        },
        {
            "id": "DOID:0110000",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110000",
            "name": "DCMA",
            "description": ""
        },
        {
            "id": "DOID:0110000",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110000",
            "name": "DCMA syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110000",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110000",
            "name": "MGA5",
            "description": ""
        },
        {
            "id": "DOID:0110000",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110000",
            "name": "MGCA5",
            "description": ""
        },
        {
            "id": "DOID:0110000",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110000",
            "name": "dilated cardiomyopathy with ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0012435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012435",
            "name": "3-methylglutaconic aciduria type 5",
            "description": "A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria."
        },
        {
            "id": "MONDO:0012435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012435",
            "name": "3-methylglutaconic aciduria caused by mutation in DNAJC19",
            "description": ""
        },
        {
            "id": "MONDO:0012435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012435",
            "name": "3-methylglutaconic aciduria type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012435",
            "name": "3-methylglutaconic aciduria type V",
            "description": ""
        },
        {
            "id": "MONDO:0012435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012435",
            "name": "DCMA",
            "description": ""
        },
        {
            "id": "MONDO:0012435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012435",
            "name": "DCMA syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012435",
            "name": "DNAJC19 3-methylglutaconic aciduria",
            "description": ""
        },
        {
            "id": "MONDO:0012435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012435",
            "name": "MGA5",
            "description": ""
        },
        {
            "id": "MONDO:0012435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012435",
            "name": "MGCA5",
            "description": ""
        },
        {
            "id": "MONDO:0012435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012435",
            "name": "dilated cardiomyopathy with ataxia",
            "description": ""
        },
        {
            "id": "MONDO:0012435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012435",
            "name": "3 alpha methylglutaconic aciduria type V",
            "description": ""
        },
        {
            "id": "MONDO:0012435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012435",
            "name": "3 methylglutaconic aciduria type V",
            "description": ""
        },
        {
            "id": "MONDO:0012435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012435",
            "name": "3-METHYLGLUTACONIC aciduria, type V",
            "description": ""
        },
        {
            "id": "MONDO:0012435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012435",
            "name": "MGA 5",
            "description": ""
        },
        {
            "id": "MONDO:0012435",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012435",
            "name": "MGA V",
            "description": ""
        },
        {
            "id": "MIM:610198",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610198",
            "name": "3-methylglutaconic aciduria 5",
            "description": "3-methylglutaconic aciduria 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110000"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110000",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110000",
            "categories": []
        },
        {
            "id": "MONDO:0012435",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012435",
            "categories": []
        },
        {
            "id": "MIM:610198",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610198",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "Q6PBT7-1",
            "uniprot_ac": "Q6PBT7",
            "uniprot_id": "TIM14_DANRE",
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                {
                    "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 TIM14",
                    "type": "recommended"
                },
                {
                    "name": "DnaJ homolog subfamily C member 19",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily C member 19",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit TIM14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnajc19",
                    "type": "recommended"
                },
                {
                    "name": "dnajc19",
                    "type": "synonym"
                },
                {
                    "name": "tim14",
                    "type": "synonym"
                },
                {
                    "name": "timm14",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73251",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0110000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110000"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CQV7-1",
            "uniprot_ac": "Q9CQV7",
            "uniprot_id": "TIM14_MOUSE",
            "refseq_ac": "NP_001021382",
            "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 TIM14",
                    "type": "recommended"
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                {
                    "name": "DnaJ (Hsp40) homolog, subfamily C, member 19",
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                {
                    "name": "DnaJ homolog subfamily C member 19",
                    "type": "synonym"
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                {
                    "name": "mitochondrial import inner membrane translocase subunit TIM14 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit TIM14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnajc19",
                    "type": "recommended"
                },
                {
                    "name": "1810055D05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dnajc19",
                    "type": "synonym"
                },
                {
                    "name": "Tim14",
                    "type": "synonym"
                },
                {
                    "name": "Timm14",
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                }
            ],
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                    "id": "0110000",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110000"
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        {
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            "uniprot_ac": "Q96DA6",
            "uniprot_id": "TIM14_HUMAN",
            "refseq_ac": "NP_001177162",
            "glycoprotein": "no",
            "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 TIM14",
                    "type": "recommended"
                },
                {
                    "name": "DnaJ (Hsp40) homolog, subfamily C, member 19",
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                },
                {
                    "name": "DnaJ homolog subfamily C member 19",
                    "type": "synonym"
                },
                {
                    "name": "DnaJ-like protein subfamily C member 19",
                    "type": "synonym"
                },
                {
                    "name": "homolog of yeast TIM14",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit TIM14 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit TIM14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAJC19",
                    "type": "recommended"
                },
                {
                    "name": "DNAJC19",
                    "type": "synonym"
                },
                {
                    "name": "PAM18",
                    "type": "synonym"
                },
                {
                    "name": "TIM14",
                    "type": "synonym"
                },
                {
                    "name": "TIMM14",
                    "type": "synonym"
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            ],
            "record_id": "Q96DA6-1",
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                    "id": "0110000",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110000"
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            ]
        },
        {
            "uniprot_canonical_ac": "P42834-1",
            "uniprot_ac": "P42834",
            "uniprot_id": "MDJ2_YEAST",
            "refseq_ac": "NP_014071",
            "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 DnaJ homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "Mdj2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MDJ2",
                    "type": "recommended"
                },
                {
                    "name": "MDJ2",
                    "type": "synonym"
                },
                {
                    "name": "N0315",
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                    "id": "0110000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110000"
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            "uniprot_canonical_ac": "Q07914-1",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial import inner membrane translocase subunit TIM14",
                    "type": "recommended"
                },
                {
                    "name": "Pam18p",
                    "type": "synonym"
                },
                {
                    "name": "Presequence translocated-associated motor subunit PAM18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PAM18",
                    "type": "recommended"
                },
                {
                    "name": "PAM18",
                    "type": "synonym"
                },
                {
                    "name": "TIM14",
                    "type": "synonym"
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                {
                    "id": "0110000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110000"
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        {
            "uniprot_canonical_ac": "A0A8I6A7G6-1",
            "uniprot_ac": "A0A8I6A7G6",
            "uniprot_id": "A0A8I6A7G6_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 TIM14",
                    "type": "recommended"
                },
                {
                    "name": "DnaJ homolog subfamily C member 19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dnajc19",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6A7G6-1",
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                {
                    "id": "0110000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110000"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VTJ8-1",
            "uniprot_ac": "Q9VTJ8",
            "uniprot_id": "TIM14_DROME",
            "refseq_ac": "NP_001246717",
            "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 TIM14",
                    "type": "recommended"
                },
                {
                    "name": "CG7394-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "D.M.UKP",
                    "type": "recommended"
                },
                {
                    "name": "TIM14",
                    "type": "recommended"
                },
                {
                    "name": "Tim14",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RE52392",
                    "type": "synonym"
                },
                {
                    "name": "CG7394",
                    "type": "synonym"
                },
                {
                    "name": "D.M.UKP",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7394",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7394",
                    "type": "synonym"
                },
                {
                    "name": "TIM14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VTJ8-1",
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                {
                    "id": "0110000",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110000"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110000"
}