{
    "disease_id": "DOID:0112077",
    "recommended_name": {
        "id": "DOID:0112077",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112077",
        "name": "nuclear type mitochondrial complex I deficiency 15",
        "description": "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF4 gene on chromosome 6q16.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112077",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112077",
            "name": "MC1DN15",
            "description": ""
        },
        {
            "id": "MONDO:0032620",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032620",
            "name": "mitochondrial complex I deficiency, nuclear type 15",
            "description": ""
        },
        {
            "id": "MONDO:0032620",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032620",
            "name": "MC1DN15",
            "description": ""
        },
        {
            "id": "MIM:618237",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618237",
            "name": "Mitochondrial complex I deficiency, nuclear type 15",
            "description": "Mitochondrial complex I deficiency, nuclear type 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112077"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112077",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112077",
            "categories": []
        },
        {
            "id": "MONDO:0032620",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032620",
            "categories": []
        },
        {
            "id": "MIM:618237",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618237",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7FDX3-1",
            "uniprot_ac": "E7FDX3",
            "uniprot_id": "E7FDX3_DANRE",
            "refseq_ac": "NP_001373203",
            "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 alpha subcomplex assembly factor 4",
                    "type": "recommended"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 4",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4",
                    "type": "synonym"
                },
                {
                    "name": "UPF0240 protein C6orf66 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ndufaf4",
                    "type": "recommended"
                },
                {
                    "name": "im:7158669",
                    "type": "synonym"
                },
                {
                    "name": "ndufaf4",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-67g20.1",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FDX3-1",
            "evidence": [
                {
                    "id": "0112077",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112077"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D1H6-1",
            "uniprot_ac": "Q9D1H6",
            "uniprot_id": "NDUF4_MOUSE",
            "refseq_ac": "NP_081018",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4",
                    "type": "recommended"
                },
                {
                    "name": "Hormone-regulated proliferation-associated protein of 20 kDa homolog",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4",
                    "type": "synonym"
                },
                {
                    "name": "hormone-regulated proliferation-associated protein of 20 kDa homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufaf4",
                    "type": "recommended"
                },
                {
                    "name": "1110007M04Rik",
                    "type": "synonym"
                },
                {
                    "name": "3000003G13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Hrpap20",
                    "type": "synonym"
                },
                {
                    "name": "Ndufaf4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D1H6-1",
            "evidence": [
                {
                    "id": "0112077",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112077"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P032-1",
            "uniprot_ac": "Q9P032",
            "uniprot_id": "NDUF4_HUMAN",
            "refseq_ac": "NP_054884",
            "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 alpha subcomplex assembly factor 4",
                    "type": "recommended"
                },
                {
                    "name": "Hormone-regulated proliferation-associated protein of 20 kDa",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 4",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4",
                    "type": "synonym"
                },
                {
                    "name": "hormone-regulated proliferation-associated protein of 20 kDa",
                    "type": "synonym"
                },
                {
                    "name": "hormone-regulated proliferation-associated protein, 20 kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFAF4",
                    "type": "recommended"
                },
                {
                    "name": "C6orf66",
                    "type": "synonym"
                },
                {
                    "name": "HRPAP20",
                    "type": "synonym"
                },
                {
                    "name": "HSPC125",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN15",
                    "type": "synonym"
                },
                {
                    "name": "My013",
                    "type": "synonym"
                },
                {
                    "name": "NDUFAF4",
                    "type": "synonym"
                },
                {
                    "name": "bA22L21.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P032-1",
            "evidence": [
                {
                    "id": "618237",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618237"
                },
                {
                    "id": "0112077",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112077"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NQR8-1",
            "uniprot_ac": "Q9NQR8",
            "uniprot_id": "NDUF4_RAT",
            "refseq_ac": "NP_942078",
            "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 alpha subcomplex assembly factor 4",
                    "type": "recommended"
                },
                {
                    "name": "Hormone-regulated proliferation-associated protein of 20 kDa homolog",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 4",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4",
                    "type": "synonym"
                },
                {
                    "name": "Protein HRPAP20",
                    "type": "synonym"
                },
                {
                    "name": "hormone-regulated proliferation associated protein 20",
                    "type": "synonym"
                },
                {
                    "name": "hormone-regulated proliferation-associated 20 kDa protein",
                    "type": "synonym"
                },
                {
                    "name": "hormone-regulated proliferation-associated protein of 20 kDa homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpr63",
                    "type": "recommended"
                },
                {
                    "name": "Ndufaf4",
                    "type": "recommended"
                },
                {
                    "name": "Hrpap20",
                    "type": "synonym"
                },
                {
                    "name": "Ndufaf4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NQR8-1",
            "evidence": [
                {
                    "id": "0112077",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112077"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VH39-1",
            "uniprot_ac": "Q9VH39",
            "uniprot_id": "NDUF4_DROME",
            "refseq_ac": "NP_649970",
            "glycoprotein": "yes",
            "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 alpha subcomplex assembly factor 4",
                    "type": "recommended"
                },
                {
                    "name": "CG11722-PA",
                    "type": "synonym"
                },
                {
                    "name": "NADH:ubiquinone oxidoreductase complex assembly factor 4",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFAF4",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NdufAF4",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT14909",
                    "type": "synonym"
                },
                {
                    "name": "CG11722",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11722",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFAF4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VH39-1",
            "evidence": [
                {
                    "id": "0112077",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112077"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112077"
}