{
    "disease_id": "DOID:0112071",
    "recommended_name": {
        "id": "DOID:0112071",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112071",
        "name": "nuclear type mitochondrial complex I deficiency 31",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMMDC1 gene on chromosome 3q13.33."
    },
    "synonyms": [
        {
            "id": "DOID:0112071",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112071",
            "name": "MC1DN31",
            "description": ""
        },
        {
            "id": "MONDO:0032634",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032634",
            "name": "mitochondrial complex I deficiency, nuclear type 31",
            "description": ""
        },
        {
            "id": "MONDO:0032634",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032634",
            "name": "MC1DN31",
            "description": ""
        },
        {
            "id": "MIM:618251",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618251",
            "name": "Mitochondrial complex I deficiency, nuclear type 31",
            "description": "Mitochondrial complex I deficiency, nuclear type 31"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112071"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112071",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112071",
            "categories": []
        },
        {
            "id": "MONDO:0032634",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032634",
            "categories": []
        },
        {
            "id": "MIM:618251",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618251",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q568N3-1",
            "uniprot_ac": "Q568N3",
            "uniprot_id": "TIDC1_DANRE",
            "refseq_ac": "NP_001017828",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complex I assembly factor TIMMDC1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "TIMM domain containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TIMM domain containing-protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Translocase of inner mitochondrial membrane domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "complex I assembly factor TIMMDC1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "translocase of inner mitochondrial membrane domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein C3orf1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "timmdc1",
                    "type": "recommended"
                },
                {
                    "name": "im:6892919",
                    "type": "synonym"
                },
                {
                    "name": "timmdc1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110196",
                    "type": "synonym"
                }
            ],
            "record_id": "Q568N3-1",
            "evidence": [
                {
                    "id": "0112071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BUY5-1",
            "uniprot_ac": "Q8BUY5",
            "uniprot_id": "TIDC1_MOUSE",
            "refseq_ac": "NP_077235",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complex I assembly factor TIMMDC1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "TIMM domain containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TIMM domain containing-protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Translocase of inner mitochondrial membrane domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "complex I assembly factor TIMMDC1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "translocase of inner mitochondrial membrane domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein C3orf1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Timmdc1",
                    "type": "recommended"
                },
                {
                    "name": "2810021C21Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930455C21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Timmdc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BUY5-1",
            "evidence": [
                {
                    "id": "0112071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NPL8-1",
            "uniprot_ac": "Q9NPL8",
            "uniprot_id": "TIDC1_HUMAN",
            "refseq_ac": "NP_057673",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complex I assembly factor TIMMDC1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "M5-14 protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein M5-14",
                    "type": "synonym"
                },
                {
                    "name": "TIMM domain containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TIMM domain containing-protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Translocase of inner mitochondrial membrane domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "complex I assembly factor TIMMDC1, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "complex I assembly factor TIMMDC1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "translocase of inner mitochondrial membrane domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein C3orf1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TIMMDC1",
                    "type": "recommended"
                },
                {
                    "name": "C3orf1",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN31",
                    "type": "synonym"
                },
                {
                    "name": "PRO284",
                    "type": "synonym"
                },
                {
                    "name": "TIMMDC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NPL8-1",
            "evidence": [
                {
                    "id": "618251",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618251"
                },
                {
                    "id": "0112071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AY94-1",
            "uniprot_ac": "Q6AY94",
            "uniprot_id": "TIDC1_RAT",
            "refseq_ac": "NP_001007677",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complex I assembly factor TIMMDC1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "TIMM domain containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "TIMM domain containing-protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Translocase of inner mitochondrial membrane domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "complex I assembly factor TIMMDC1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "translocase of inner mitochondrial membrane domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein C3orf1 homolog-like",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein C3orf1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Timmdc1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1359380",
                    "type": "synonym"
                },
                {
                    "name": "Timmdc1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AY94-1",
            "evidence": [
                {
                    "id": "0112071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112071"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P81928-1",
            "uniprot_ac": "P81928",
            "uniprot_id": "TIDC1_DROME",
            "refseq_ac": "NP_001262561",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complex I assembly factor TIMMDC1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "140up-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG9852-PB",
                    "type": "synonym"
                },
                {
                    "name": "RPII140-upstream gene protein",
                    "type": "synonym"
                },
                {
                    "name": "Translocase of inner mitochondrial membrane domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "dTIMMDC1",
                    "type": "synonym"
                },
                {
                    "name": "upstream of RpII140, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Timmdc1",
                    "type": "recommended"
                },
                {
                    "name": "140up",
                    "type": "synonym"
                },
                {
                    "name": "CG9852",
                    "type": "synonym"
                },
                {
                    "name": "DmRP140-upstream",
                    "type": "synonym"
                },
                {
                    "name": "DmRP140up",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9852",
                    "type": "synonym"
                },
                {
                    "name": "dTIMMDC1",
                    "type": "synonym"
                },
                {
                    "name": "l(3)88Ba",
                    "type": "synonym"
                },
                {
                    "name": "l(3)Z6",
                    "type": "synonym"
                }
            ],
            "record_id": "P81928-1",
            "evidence": [
                {
                    "id": "0112071",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112071"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112071"
}