{
    "disease_id": "DOID:0060351",
    "recommended_name": {
        "id": "DOID:0060351",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060351",
        "name": "mitochondrial complex III deficiency nuclear type 2",
        "description": "A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern."
    },
    "synonyms": [
        {
            "id": "DOID:0060351",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060351",
            "name": "MC3DN2",
            "description": ""
        },
        {
            "id": "MONDO:0014063",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014063",
            "name": "mitochondrial complex III deficiency nuclear type 2",
            "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene."
        },
        {
            "id": "MONDO:0014063",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014063",
            "name": "MC3DN2",
            "description": ""
        },
        {
            "id": "MONDO:0014063",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014063",
            "name": "TTC19 mitochondrial complex III deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014063",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014063",
            "name": "mitochondrial complex III deficiency caused by mutation in TTC19",
            "description": ""
        },
        {
            "id": "MONDO:0014063",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014063",
            "name": "mitochondrial complex III deficiency nuclear type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014063",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014063",
            "name": "mitochondrial complex III deficiency, nuclear type 2",
            "description": ""
        },
        {
            "id": "MIM:615157",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615157",
            "name": "Mitochondrial complex III deficiency, nuclear type 2",
            "description": "Mitochondrial complex III deficiency, nuclear type 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060351"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060351",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060351",
            "categories": []
        },
        {
            "id": "MONDO:0014063",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014063",
            "categories": []
        },
        {
            "id": "MIM:615157",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615157",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A4QP73-1",
            "uniprot_ac": "A4QP73",
            "uniprot_id": "TTC19_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat protein 19, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "TPR repeat protein 19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ttc19",
                    "type": "recommended"
                },
                {
                    "name": "si:dkey-270k22.4",
                    "type": "synonym"
                }
            ],
            "record_id": "A4QP73-1",
            "evidence": [
                {
                    "id": "0060351",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060351"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CC21-1",
            "uniprot_ac": "Q8CC21",
            "uniprot_id": "TTC19_MOUSE",
            "refseq_ac": "NP_082636",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat protein 19, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "TPR repeat protein 19",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 19, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 19, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttc19",
                    "type": "recommended"
                },
                {
                    "name": "2010204O13Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810460C24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ttc19",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CC21-1",
            "evidence": [
                {
                    "id": "0060351",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060351"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6DKK2-1",
            "uniprot_ac": "Q6DKK2",
            "uniprot_id": "TTC19_HUMAN",
            "refseq_ac": "NP_001258349",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat protein 19, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "TPR repeat protein 19",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 19, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 19, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TTC19",
                    "type": "recommended"
                },
                {
                    "name": "2010204O13Rik",
                    "type": "synonym"
                },
                {
                    "name": "MC3DN2",
                    "type": "synonym"
                },
                {
                    "name": "TTC19",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DKK2-1",
            "evidence": [
                {
                    "id": "615157",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615157"
                },
                {
                    "id": "0060351",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060351"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A6D7-1",
            "uniprot_ac": "D4A6D7",
            "uniprot_id": "TTC19_RAT",
            "refseq_ac": "NP_001103114",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat protein 19, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "TPR repeat protein 19",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 19, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat protein 19, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttc19",
                    "type": "recommended"
                },
                {
                    "name": "RGD1311797",
                    "type": "synonym"
                },
                {
                    "name": "Ttc19",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A6D7-1",
            "evidence": [
                {
                    "id": "0060351",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060351"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8SYD0-1",
            "uniprot_ac": "Q8SYD0",
            "uniprot_id": "TTC19_DROME",
            "refseq_ac": "NP_609934",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tetratricopeptide repeat protein 19 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG15173-PA",
                    "type": "synonym"
                },
                {
                    "name": "Ttc19-PA",
                    "type": "synonym"
                },
                {
                    "name": "tetratricopeptide repeat domain 19",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ttc19",
                    "type": "recommended"
                },
                {
                    "name": "CG15173",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15173",
                    "type": "synonym"
                },
                {
                    "name": "TTC19",
                    "type": "synonym"
                },
                {
                    "name": "Ttc19",
                    "type": "synonym"
                },
                {
                    "name": "cg15173",
                    "type": "synonym"
                },
                {
                    "name": "dTTC19",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8SYD0-1",
            "evidence": [
                {
                    "id": "0060351",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060351"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060351"
}