{
    "disease_id": "DOID:0112084",
    "recommended_name": {
        "id": "DOID:0112084",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112084",
        "name": "nuclear type mitochondrial complex I deficiency 29",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112084",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112084",
            "name": "MC1DN29",
            "description": ""
        },
        {
            "id": "MONDO:0032633",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032633",
            "name": "mitochondrial complex I deficiency, nuclear type 29",
            "description": ""
        },
        {
            "id": "MONDO:0032633",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032633",
            "name": "MC1DN29",
            "description": ""
        },
        {
            "id": "MIM:618250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618250",
            "name": "Mitochondrial complex I deficiency, nuclear type 29",
            "description": "Mitochondrial complex I deficiency, nuclear type 29"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112084"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112084",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112084",
            "categories": []
        },
        {
            "id": "MONDO:0032633",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032633",
            "categories": []
        },
        {
            "id": "MIM:618250",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618250",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A2R8QM83-1",
            "uniprot_ac": "A0A2R8QM83",
            "uniprot_id": "A0A2R8QM83_DANRE",
            "refseq_ac": "NP_001315361",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 126A",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protein 126A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tmem126a",
                    "type": "recommended"
                },
                {
                    "name": "tmem126a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:73348",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8QM83-1",
            "evidence": [
                {
                    "id": "0112084",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112084"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D1R1-1",
            "uniprot_ac": "Q9D1R1",
            "uniprot_id": "T126B_MOUSE",
            "refseq_ac": "NP_081010",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complex I assembly factor TMEM126B, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane protein 126B",
                    "type": "synonym"
                },
                {
                    "name": "complex I assembly factor TMEM126B, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem126b",
                    "type": "recommended"
                },
                {
                    "name": "1110001A23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Tmem126b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D1R1-1",
            "evidence": [
                {
                    "id": "0112084",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112084"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IUX1-1",
            "uniprot_ac": "Q8IUX1",
            "uniprot_id": "T126B_HUMAN",
            "refseq_ac": "NP_001180467",
            "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 TMEM126B, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane protein 126B",
                    "type": "synonym"
                },
                {
                    "name": "complex I assembly factor TMEM126B, mitochondrial isoform c",
                    "type": "synonym"
                },
                {
                    "name": "complex I assembly factor TMEM126B, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMEM126B",
                    "type": "recommended"
                },
                {
                    "name": "HT007",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN29",
                    "type": "synonym"
                },
                {
                    "name": "TMEM126B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IUX1-1",
            "evidence": [
                {
                    "id": "618250",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618250"
                },
                {
                    "id": "0112084",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112084"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RZD2-1",
            "uniprot_ac": "B2RZD2",
            "uniprot_id": "T126B_RAT",
            "refseq_ac": "NP_001099750",
            "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 TMEM126B, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane protein 126B",
                    "type": "synonym"
                },
                {
                    "name": "complex I assembly factor TMEM126B, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem126b",
                    "type": "recommended"
                },
                {
                    "name": "RGD1308371",
                    "type": "synonym"
                },
                {
                    "name": "Tmem126b",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RZD2-1",
            "evidence": [
                {
                    "id": "0112084",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112084"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLM7-1",
            "uniprot_ac": "Q9VLM7",
            "uniprot_id": "T126_DROME",
            "refseq_ac": "NP_001260247",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protein 126",
                    "type": "recommended"
                },
                {
                    "name": "CG13392-PB",
                    "type": "synonym"
                },
                {
                    "name": "dTMEM126B",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmem126",
                    "type": "recommended"
                },
                {
                    "name": "2L11",
                    "type": "synonym"
                },
                {
                    "name": "CG13392",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13392",
                    "type": "synonym"
                },
                {
                    "name": "dTMEM126B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLM7-1",
            "evidence": [
                {
                    "id": "0112084",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112084"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112084"
}