{
    "disease_id": "DOID:0112098",
    "recommended_name": {
        "id": "DOID:0112098",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112098",
        "name": "nuclear type mitochondrial complex I deficiency 30",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFB11 gene on chromosome Xp11.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112098",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112098",
            "name": "MC1DN30",
            "description": ""
        },
        {
            "id": "MONDO:0026721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026721",
            "name": "mitochondrial complex I deficiency, nuclear type 30",
            "description": ""
        },
        {
            "id": "MONDO:0026721",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026721",
            "name": "MC1DN30",
            "description": ""
        },
        {
            "id": "MIM:301021",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/301021",
            "name": "Mitochondrial complex I deficiency, nuclear type 30",
            "description": "Mitochondrial complex I deficiency, nuclear type 30"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112098"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112098",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112098",
            "categories": []
        },
        {
            "id": "MONDO:0026721",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0026721",
            "categories": []
        },
        {
            "id": "MIM:301021",
            "database": "MIM",
            "url": "https://www.omim.org/entry/301021",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1LYN0-1",
            "uniprot_ac": "Q1LYN0",
            "uniprot_id": "Q1LYN0_DANRE",
            "refseq_ac": "NP_001038446",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex I-ESSS",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase ESSS subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ndufb11",
                    "type": "recommended"
                },
                {
                    "name": "im:6897973",
                    "type": "synonym"
                },
                {
                    "name": "ndufb11",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-6n6.4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LYN0-1",
            "evidence": [
                {
                    "id": "0112098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O09111-1",
            "uniprot_ac": "O09111",
            "uniprot_id": "NDUBB_MOUSE",
            "refseq_ac": "NP_062308",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CI-ESSS",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-ESSS",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase ESSS subunit",
                    "type": "synonym"
                },
                {
                    "name": "Neuronal protein 15.6",
                    "type": "synonym"
                },
                {
                    "name": "Np15.6",
                    "type": "synonym"
                },
                {
                    "name": "complex I-ESSS",
                    "type": "synonym"
                },
                {
                    "name": "neuronal protein 15.6",
                    "type": "synonym"
                },
                {
                    "name": "nuclear protein 15.6",
                    "type": "synonym"
                },
                {
                    "name": "p15.6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufb11",
                    "type": "recommended"
                },
                {
                    "name": "CI-ESSS",
                    "type": "synonym"
                },
                {
                    "name": "D5Bwg0566e",
                    "type": "synonym"
                },
                {
                    "name": "D5Bwg0577e",
                    "type": "synonym"
                },
                {
                    "name": "NP15.6",
                    "type": "synonym"
                },
                {
                    "name": "Ndufb11",
                    "type": "synonym"
                },
                {
                    "name": "Np15",
                    "type": "synonym"
                },
                {
                    "name": "p15.6",
                    "type": "synonym"
                }
            ],
            "record_id": "O09111-1",
            "evidence": [
                {
                    "id": "0112098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91ZI8-1",
            "uniprot_ac": "Q91ZI8",
            "uniprot_id": "IOD3_MOUSE",
            "refseq_ac": "NP_742117",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thyroxine 5-deiodinase",
                    "type": "recommended"
                },
                {
                    "name": "1.21.99.3",
                    "type": "synonym"
                },
                {
                    "name": "5DIII",
                    "type": "synonym"
                },
                {
                    "name": "DIOIII",
                    "type": "synonym"
                },
                {
                    "name": "Type 3 DI",
                    "type": "synonym"
                },
                {
                    "name": "Type III iodothyronine deiodinase",
                    "type": "synonym"
                },
                {
                    "name": "thyroxine 5-deiodinase",
                    "type": "synonym"
                },
                {
                    "name": "type 3 DI",
                    "type": "synonym"
                },
                {
                    "name": "type III iodothyronine deiodinase",
                    "type": "synonym"
                },
                {
                    "name": "type-III 5'-deiodinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dio3",
                    "type": "recommended"
                },
                {
                    "name": "Dio3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91ZI8-1",
            "evidence": [
                {
                    "id": "0112098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NX14-1",
            "uniprot_ac": "Q9NX14",
            "uniprot_id": "NDUBB_HUMAN",
            "refseq_ac": "NP_001129470",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CI-ESSS",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-ESSS",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase ESSS subunit",
                    "type": "synonym"
                },
                {
                    "name": "Neuronal protein 17.3",
                    "type": "synonym"
                },
                {
                    "name": "Np17.3",
                    "type": "synonym"
                },
                {
                    "name": "complex I NP17.3 subunit",
                    "type": "synonym"
                },
                {
                    "name": "complex I-ESSS",
                    "type": "synonym"
                },
                {
                    "name": "neuronal protein 17.3",
                    "type": "synonym"
                },
                {
                    "name": "p17.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFB11",
                    "type": "recommended"
                },
                {
                    "name": "CI-ESSS",
                    "type": "synonym"
                },
                {
                    "name": "ESSS",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN30",
                    "type": "synonym"
                },
                {
                    "name": "NDUFB11",
                    "type": "synonym"
                },
                {
                    "name": "NP17.3",
                    "type": "synonym"
                },
                {
                    "name": "Np15",
                    "type": "synonym"
                },
                {
                    "name": "P17.3",
                    "type": "synonym"
                },
                {
                    "name": "PRO1064",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NX14-1",
            "evidence": [
                {
                    "id": "301021",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/301021"
                },
                {
                    "id": "0112098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A7L4-1",
            "uniprot_ac": "D4A7L4",
            "uniprot_id": "D4A7L4_RAT",
            "refseq_ac": "NP_001100226",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex I-ESSS",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase ESSS subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufb11",
                    "type": "recommended"
                },
                {
                    "name": "Ndufb11",
                    "type": "synonym"
                },
                {
                    "name": "RGD1563698",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A7L4-1",
            "evidence": [
                {
                    "id": "0112098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4AAT2-1",
            "uniprot_ac": "D4AAT2",
            "uniprot_id": "D4AAT2_RAT",
            "refseq_ac": "XP_006242197",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Complex I-ESSS",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial-like",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase ESSS subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufb11b",
                    "type": "recommended"
                },
                {
                    "name": "Ndufb11b",
                    "type": "synonym"
                }
            ],
            "record_id": "D4AAT2-1",
            "evidence": [
                {
                    "id": "0112098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V3L7-1",
            "uniprot_ac": "Q9V3L7",
            "uniprot_id": "Q9V3L7_DROME",
            "refseq_ac": "NP_650774",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 11, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG6008-PA",
                    "type": "synonym"
                },
                {
                    "name": "Complex I-ESSS",
                    "type": "synonym"
                },
                {
                    "name": "NADH-ubiquinone oxidoreductase ESSS subunit",
                    "type": "synonym"
                },
                {
                    "name": "NP15.6-PA",
                    "type": "synonym"
                },
                {
                    "name": "NP15.6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NP15.6",
                    "type": "recommended"
                },
                {
                    "name": "CG6008",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6008",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6008",
                    "type": "synonym"
                },
                {
                    "name": "ND-15.6",
                    "type": "synonym"
                },
                {
                    "name": "NDUFB11",
                    "type": "synonym"
                },
                {
                    "name": "NP15.6",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.281",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFB11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V3L7-1",
            "evidence": [
                {
                    "id": "0112098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112098"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112098"
}