{
    "disease_id": "DOID:0070491",
    "recommended_name": {
        "id": "DOID:0070491",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070491",
        "name": "mitochondrial complex IV deficiency nuclear type 1",
        "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070491",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070491",
            "name": "MC4DN1",
            "description": ""
        },
        {
            "id": "MONDO:0700250",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700250",
            "name": "mitochondrial complex IV deficiency, nuclear type 1",
            "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the SURF1 gene."
        },
        {
            "id": "MIM:220110",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/220110",
            "name": "Mitochondrial complex IV deficiency",
            "description": "Mitochondrial complex IV deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070491"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070491",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070491",
            "categories": []
        },
        {
            "id": "MONDO:0700250",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0700250",
            "categories": []
        },
        {
            "id": "MIM:220110",
            "database": "MIM",
            "url": "https://www.omim.org/entry/220110",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P09925-1",
            "uniprot_ac": "P09925",
            "uniprot_id": "SURF1_MOUSE",
            "refseq_ac": "NP_001258653",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Surfeit locus protein 1",
                    "type": "recommended"
                },
                {
                    "name": "surfeit locus protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "surfeit locus protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Surf1",
                    "type": "recommended"
                },
                {
                    "name": "0610010F23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Surf-1",
                    "type": "synonym"
                },
                {
                    "name": "Surf1",
                    "type": "synonym"
                }
            ],
            "record_id": "P09925-1",
            "evidence": [
                {
                    "id": "0070491",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070491"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00395-1",
            "uniprot_ac": "P00395",
            "uniprot_id": "COX1_HUMAN",
            "refseq_ac": "YP_003024028",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 1",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.9",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide I",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MT-CO1",
                    "type": "recommended"
                },
                {
                    "name": "COI",
                    "type": "synonym"
                },
                {
                    "name": "COX1",
                    "type": "synonym"
                },
                {
                    "name": "COXI",
                    "type": "synonym"
                },
                {
                    "name": "MTCO1",
                    "type": "synonym"
                }
            ],
            "record_id": "P00395-1",
            "evidence": [
                {
                    "id": "220110",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/220110"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15526-1",
            "uniprot_ac": "Q15526",
            "uniprot_id": "SURF1_HUMAN",
            "refseq_ac": "NP_001267716",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Surfeit locus protein 1",
                    "type": "recommended"
                },
                {
                    "name": "surfeit 1",
                    "type": "synonym"
                },
                {
                    "name": "surfeit locus protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "surfeit locus protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SURF1",
                    "type": "recommended"
                },
                {
                    "name": "CMT4K",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN1",
                    "type": "synonym"
                },
                {
                    "name": "SHY1",
                    "type": "synonym"
                },
                {
                    "name": "SURF-1",
                    "type": "synonym"
                },
                {
                    "name": "SURF1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15526-1",
            "evidence": [
                {
                    "id": "220110",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/220110"
                },
                {
                    "id": "0070491",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070491"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00414-1",
            "uniprot_ac": "P00414",
            "uniprot_id": "COX3_HUMAN",
            "refseq_ac": "YP_003024032",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 3",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.9",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide III",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit III",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MT-CO3",
                    "type": "recommended"
                },
                {
                    "name": "COIII",
                    "type": "synonym"
                },
                {
                    "name": "COX3",
                    "type": "synonym"
                },
                {
                    "name": "COXIII",
                    "type": "synonym"
                },
                {
                    "name": "MTCO3",
                    "type": "synonym"
                }
            ],
            "record_id": "P00414-1",
            "evidence": [
                {
                    "id": "220110",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/220110"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00403-1",
            "uniprot_ac": "P00403",
            "uniprot_id": "COX2_HUMAN",
            "refseq_ac": "YP_003024029",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "7.1.1.9",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide II",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MT-CO2",
                    "type": "recommended"
                },
                {
                    "name": "COII",
                    "type": "synonym"
                },
                {
                    "name": "COX2",
                    "type": "synonym"
                },
                {
                    "name": "COXII",
                    "type": "synonym"
                },
                {
                    "name": "MTCO2",
                    "type": "synonym"
                }
            ],
            "record_id": "P00403-1",
            "evidence": [
                {
                    "id": "220110",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/220110"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53266-1",
            "uniprot_ac": "P53266",
            "uniprot_id": "SHY1_YEAST",
            "refseq_ac": "NP_011627",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome oxidase assembly protein SHY1",
                    "type": "recommended"
                },
                {
                    "name": "SURF1 homolog of Yeast",
                    "type": "synonym"
                },
                {
                    "name": "SURF1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome oxidase assembly protein SHY1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SHY1",
                    "type": "recommended"
                },
                {
                    "name": "G6150",
                    "type": "synonym"
                },
                {
                    "name": "SHY1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53266-1",
            "evidence": [
                {
                    "id": "0070491",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070491"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QXU2-1",
            "uniprot_ac": "Q9QXU2",
            "uniprot_id": "SURF1_RAT",
            "refseq_ac": "NP_742065",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Surfeit locus protein 1",
                    "type": "recommended"
                },
                {
                    "name": "surfeit 1",
                    "type": "synonym"
                },
                {
                    "name": "surfeit locus protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Surf1",
                    "type": "recommended"
                },
                {
                    "name": "Surf4",
                    "type": "recommended"
                },
                {
                    "name": "Ab1-205",
                    "type": "synonym"
                },
                {
                    "name": "Surf-1",
                    "type": "synonym"
                },
                {
                    "name": "Surf1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QXU2-1",
            "evidence": [
                {
                    "id": "0070491",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070491"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9U4F3-1",
            "uniprot_ac": "Q9U4F3",
            "uniprot_id": "SURF1_DROME",
            "refseq_ac": "NP_524758",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "SURF1-like protein",
                    "type": "recommended"
                },
                {
                    "name": "CG9943-PA",
                    "type": "synonym"
                },
                {
                    "name": "Surf1-PA",
                    "type": "synonym"
                },
                {
                    "name": "surfeit 1",
                    "type": "synonym"
                },
                {
                    "name": "surfeit locus protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Surf1",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH23574",
                    "type": "synonym"
                },
                {
                    "name": "CG9943",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9943",
                    "type": "synonym"
                },
                {
                    "name": "SUR1",
                    "type": "synonym"
                },
                {
                    "name": "Surf1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9U4F3-1",
            "evidence": [
                {
                    "id": "0070491",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070491"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070491"
}