{
    "disease_id": "DOID:0050757",
    "recommended_name": {
        "id": "DOID:0050757",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050757",
        "name": "deafness-dystonia-optic neuronopathy syndrome",
        "description": "A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria."
    },
    "synonyms": [
        {
            "id": "DOID:0050757",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050757",
            "name": "Deafness Dystonia Optic Atrophy Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050757",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050757",
            "name": "Deafness Dystonia Optic Neuronopathy Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050757",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050757",
            "name": "Dystonia Deafness Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050757",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050757",
            "name": "Jensen syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050757",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050757",
            "name": "Mohr-Tranebjaerg syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050757",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050757",
            "name": "deafness dystonia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "deafness dystonia syndrome",
            "description": "An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards."
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "DDON syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "Deafness-Dystonia-Optic Neuronopathy Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "Mohr-Tranebjaerg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "Mohr-Tranebjaerg syndrome, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "deafness dystonia optic neuronopathy syndrome (DDON)",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "deafness dystonia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "deafness-dystonia-optic neuronopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "DDP",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "MOHR-Tranebjaerg syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "MTS",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "deafness - dystonia - optic neuronopathy syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010578",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "name": "deafness-dystonia-optic neuronopathy (DDON) syndrome",
            "description": ""
        },
        {
            "id": "MIM:304700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/304700",
            "name": "Mohr-Tranebjaerg syndrome",
            "description": "Mohr-Tranebjaerg syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050757"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050757",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050757",
            "categories": []
        },
        {
            "id": "MONDO:0010578",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010578",
            "categories": []
        },
        {
            "id": "MIM:304700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/304700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DEM5-1",
            "uniprot_ac": "Q6DEM5",
            "uniprot_id": "TIM8A_DANRE",
            "refseq_ac": "NP_001003637",
            "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 Tim8 A",
                    "type": "recommended"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit Tim8 A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "timm8a",
                    "type": "recommended"
                },
                {
                    "name": "im:6896085",
                    "type": "synonym"
                },
                {
                    "name": "tim8a",
                    "type": "synonym"
                },
                {
                    "name": "timm8a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100916",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DEM5-1",
            "evidence": [
                {
                    "id": "0050757",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050757"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6DGJ3-1",
            "uniprot_ac": "Q6DGJ3",
            "uniprot_id": "TIM13_DANRE",
            "refseq_ac": "NP_001002465",
            "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 Tim13",
                    "type": "recommended"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit Tim13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "timm13",
                    "type": "recommended"
                },
                {
                    "name": "fd44h11",
                    "type": "synonym"
                },
                {
                    "name": "tim13a",
                    "type": "synonym"
                },
                {
                    "name": "timm13a",
                    "type": "synonym"
                },
                {
                    "name": "timm13",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd44h11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92895",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DGJ3-1",
            "evidence": [
                {
                    "id": "0050757",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050757"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WVA2-1",
            "uniprot_ac": "Q9WVA2",
            "uniprot_id": "TIM8A_MOUSE",
            "refseq_ac": "NP_038926",
            "glycoprotein": "no",
            "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 Tim8 A",
                    "type": "recommended"
                },
                {
                    "name": "Deafness dystonia protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "deafness dystonia protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit Tim8 A",
                    "type": "synonym"
                },
                {
                    "name": "translocase of inner mitochondrial membrane 8 homolog a1",
                    "type": "synonym"
                },
                {
                    "name": "translocase of inner mitochondrial membrane 8 homolog a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Timm8a1",
                    "type": "recommended"
                },
                {
                    "name": "DXHXS1274E",
                    "type": "synonym"
                },
                {
                    "name": "Ddp1",
                    "type": "synonym"
                },
                {
                    "name": "Fci-12",
                    "type": "synonym"
                },
                {
                    "name": "Tim8a",
                    "type": "synonym"
                },
                {
                    "name": "Timm8a1",
                    "type": "synonym"
                },
                {
                    "name": "Timm8a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVA2-1",
            "evidence": [
                {
                    "id": "0050757",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050757"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62077-1",
            "uniprot_ac": "P62077",
            "uniprot_id": "TIM8B_MOUSE",
            "refseq_ac": "NP_038925",
            "glycoprotein": "no",
            "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 Tim8 B",
                    "type": "recommended"
                },
                {
                    "name": "Deafness dystonia protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "deafness dystonia protein 2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit Tim8 B",
                    "type": "synonym"
                },
                {
                    "name": "translocase of inner mitochondrial membrane 8 homolog b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Timm8b",
                    "type": "recommended"
                },
                {
                    "name": "Ddp2",
                    "type": "synonym"
                },
                {
                    "name": "Tim8b",
                    "type": "synonym"
                },
                {
                    "name": "Timm8b",
                    "type": "synonym"
                }
            ],
            "record_id": "P62077-1",
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                {
                    "id": "0050757",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050757"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4FZG7-1",
            "uniprot_ac": "Q4FZG7",
            "uniprot_id": "TI8AB_MOUSE",
            "refseq_ac": "NP_001032833",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative mitochondrial import inner membrane translocase subunit Tim8 A-B",
                    "type": "recommended"
                },
                {
                    "name": "putative mitochondrial import inner membrane translocase subunit Tim8 A-B",
                    "type": "synonym"
                },
                {
                    "name": "translocase of inner mitochondrial membrane 8 homolog a2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Timm8a2",
                    "type": "recommended"
                },
                {
                    "name": "Timm8a2",
                    "type": "synonym"
                },
                {
                    "name": "Timm8ab",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4FZG7-1",
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                {
                    "id": "0050757",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050757"
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            ]
        },
        {
            "uniprot_canonical_ac": "P62075-1",
            "uniprot_ac": "P62075",
            "uniprot_id": "TIM13_MOUSE",
            "refseq_ac": "NP_038923",
            "glycoprotein": "no",
            "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 Tim13",
                    "type": "recommended"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit Tim13",
                    "type": "synonym"
                },
                {
                    "name": "translocase of inner mitochondrial membrane 13 homolog",
                    "type": "synonym"
                },
                {
                    "name": "translocase of inner mitochondrial membrane 9 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Timm13",
                    "type": "recommended"
                },
                {
                    "name": "D10Ertd378e",
                    "type": "synonym"
                },
                {
                    "name": "Tim13a",
                    "type": "synonym"
                },
                {
                    "name": "Tim9",
                    "type": "synonym"
                },
                {
                    "name": "Timm13a",
                    "type": "synonym"
                },
                {
                    "name": "Timm13",
                    "type": "synonym"
                },
                {
                    "name": "Timm9",
                    "type": "synonym"
                }
            ],
            "record_id": "P62075-1",
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                {
                    "id": "0050757",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050757"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60220-1",
            "uniprot_ac": "O60220",
            "uniprot_id": "TIM8A_HUMAN",
            "refseq_ac": "NP_004076",
            "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 Tim8 A",
                    "type": "recommended"
                },
                {
                    "name": "Deafness dystonia protein 1",
                    "type": "synonym"
                },
                {
                    "name": "X-linked deafness dystonia protein",
                    "type": "synonym"
                },
                {
                    "name": "deafness dystonia protein 1",
                    "type": "synonym"
                },
                {
                    "name": "deafness/dystonia peptide",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit Tim8 A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit Tim8 A",
                    "type": "synonym"
                },
                {
                    "name": "translocase of inner mitochondrial membrane 8 homolog A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TIMM8A",
                    "type": "recommended"
                },
                {
                    "name": "DDP1",
                    "type": "synonym"
                },
                {
                    "name": "DDP",
                    "type": "synonym"
                },
                {
                    "name": "DFN1",
                    "type": "synonym"
                },
                {
                    "name": "MTS",
                    "type": "synonym"
                },
                {
                    "name": "TIM8A",
                    "type": "synonym"
                },
                {
                    "name": "TIM8",
                    "type": "synonym"
                },
                {
                    "name": "TIMM8A",
                    "type": "synonym"
                }
            ],
            "record_id": "O60220-1",
            "evidence": [
                {
                    "id": "304700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/304700"
                },
                {
                    "id": "0050757",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050757"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53299-1",
            "uniprot_ac": "P53299",
            "uniprot_id": "TIM13_YEAST",
            "refseq_ac": "NP_011697",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial import inner membrane translocase subunit TIM13",
                    "type": "recommended"
                },
                {
                    "name": "protein translocase subunit TIM13",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "TIM13",
                    "type": "recommended"
                },
                {
                    "name": "G7157",
                    "type": "synonym"
                },
                {
                    "name": "TIM13",
                    "type": "synonym"
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                    "id": "0050757",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050757"
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        {
            "uniprot_canonical_ac": "P57744-1",
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                    "name": "Saccharomyces cerevisiae S288C",
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                    "common_name": "Baker's yeast",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial import inner membrane translocase subunit TIM8",
                    "type": "recommended"
                },
                {
                    "name": "protein transporter TIM8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TIM8",
                    "type": "recommended"
                },
                {
                    "name": "TIM8",
                    "type": "synonym"
                },
                {
                    "name": "YJR135BW",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050757",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050757"
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            "uniprot_ac": "Q9WVA1",
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            "glycoprotein": "no",
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                {
                    "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 Tim8 A",
                    "type": "recommended"
                },
                {
                    "name": "Deafness dystonia protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "deafness dystonia protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial import inner membrane translocase subunit Tim8 A",
                    "type": "synonym"
                },
                {
                    "name": "translocase of inner mitochondrial membrane 8 homolog A1",
                    "type": "synonym"
                },
                {
                    "name": "translocase of inner mitochondrial membrane 8 homolog a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Timm8a",
                    "type": "recommended"
                },
                {
                    "name": "DDP",
                    "type": "synonym"
                },
                {
                    "name": "Ddp1",
                    "type": "synonym"
                },
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                    "name": "Tim8a",
                    "type": "synonym"
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                    "name": "Timm8a1",
                    "type": "synonym"
                },
                {
                    "name": "Timm8a",
                    "type": "synonym"
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            ],
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                    "id": "0050757",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050757"
                }
            ]
        },
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            "uniprot_canonical_ac": "P62078-1",
            "uniprot_ac": "P62078",
            "uniprot_id": "TIM8B_RAT",
            "refseq_ac": "NP_071986",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
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                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
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    "record_id": "doid.0050757"
}