{
    "disease_id": "DOID:0070503",
    "recommended_name": {
        "id": "DOID:0070503",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070503",
        "name": "mitochondrial complex IV deficiency nuclear type 18",
        "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070503",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070503",
            "name": "MC4DN18",
            "description": ""
        },
        {
            "id": "MONDO:0033653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033653",
            "name": "mitochondrial complex IV deficiency, nuclear type 18",
            "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX6A2 gene."
        },
        {
            "id": "MONDO:0033653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033653",
            "name": "MC4DN18",
            "description": ""
        },
        {
            "id": "MONDO:0033653",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033653",
            "name": "mitochondrial complex IV deficiency, nuclear type 18",
            "description": ""
        },
        {
            "id": "MIM:619062",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619062",
            "name": "Mitochondrial complex IV deficiency, nuclear type 18",
            "description": "Mitochondrial complex IV deficiency, nuclear type 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070503"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070503",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070503",
            "categories": []
        },
        {
            "id": "MONDO:0033653",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033653",
            "categories": []
        },
        {
            "id": "MIM:619062",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619062",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P43023-1",
            "uniprot_ac": "P43023",
            "uniprot_id": "CX6A2_MOUSE",
            "refseq_ac": "NP_034073",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 6A2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "COXVIAH",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide VIa-heart",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide VIa-heart",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 6A2, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 6A2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit VIa polypeptide 2",
                    "type": "synonym"
                },
                {
                    "name": "subunit VIaH (heart-type)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox6a2",
                    "type": "recommended"
                },
                {
                    "name": "Cox6a2",
                    "type": "synonym"
                },
                {
                    "name": "CoxVIaH",
                    "type": "synonym"
                },
                {
                    "name": "VIaH",
                    "type": "synonym"
                }
            ],
            "record_id": "P43023-1",
            "evidence": [
                {
                    "id": "0070503",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070503"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02221-1",
            "uniprot_ac": "Q02221",
            "uniprot_id": "CX6A2_HUMAN",
            "refseq_ac": "NP_005196",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 6A2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "COX VIa-M",
                    "type": "synonym"
                },
                {
                    "name": "COXVIAH",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide VIa-heart",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase subunit VIA-muscle",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide VIa-heart",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 6A2, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 6A2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit VIA-muscle",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit VIa polypeptide 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX6A2",
                    "type": "recommended"
                },
                {
                    "name": "COX6A2",
                    "type": "synonym"
                },
                {
                    "name": "COX6AH",
                    "type": "synonym"
                },
                {
                    "name": "COX6A",
                    "type": "synonym"
                },
                {
                    "name": "COXVIAH",
                    "type": "synonym"
                },
                {
                    "name": "COXVIa-M",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN18",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02221-1",
            "evidence": [
                {
                    "id": "619062",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619062"
                },
                {
                    "id": "0070503",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070503"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32799-1",
            "uniprot_ac": "P32799",
            "uniprot_id": "COX13_YEAST",
            "refseq_ac": "NP_011324",
            "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 c oxidase subunit 13, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide VIa",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit VIa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX13",
                    "type": "recommended"
                },
                {
                    "name": "COX13",
                    "type": "synonym"
                },
                {
                    "name": "G1341",
                    "type": "synonym"
                }
            ],
            "record_id": "P32799-1",
            "evidence": [
                {
                    "id": "0070503",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070503"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10817-1",
            "uniprot_ac": "P10817",
            "uniprot_id": "CX6A2_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 6A2, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "COXVIAH",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide VIa-heart",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox6a2",
                    "type": "recommended"
                }
            ],
            "record_id": "P10817-1",
            "evidence": [
                {
                    "id": "0070503",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070503"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04762-1",
            "uniprot_ac": "P04762",
            "uniprot_id": "CATA_RAT",
            "refseq_ac": "NP_036652",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Catalase",
                    "type": "recommended"
                },
                {
                    "name": "1.11.1.6",
                    "type": "synonym"
                },
                {
                    "name": "catalase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cat",
                    "type": "recommended"
                },
                {
                    "name": "CS1",
                    "type": "synonym"
                },
                {
                    "name": "Cas1",
                    "type": "synonym"
                },
                {
                    "name": "Cat01",
                    "type": "synonym"
                },
                {
                    "name": "Catl",
                    "type": "synonym"
                },
                {
                    "name": "Cat",
                    "type": "synonym"
                },
                {
                    "name": "Cs-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P04762-1",
            "evidence": [
                {
                    "id": "0070503",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070503"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVU8-1",
            "uniprot_ac": "Q9VVU8",
            "uniprot_id": "Q9VVU8_DROME",
            "refseq_ac": "NP_001246828",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG14077-PC",
                    "type": "synonym"
                },
                {
                    "name": "COX6AL2-PC",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase subunit 6A-like 2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase subunit 6A-like 2, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 6A-like 2, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX6AL2",
                    "type": "recommended"
                },
                {
                    "name": "CG14077",
                    "type": "synonym"
                },
                {
                    "name": "COX6AL2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14077",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14077",
                    "type": "synonym"
                },
                {
                    "name": "VIa",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVU8-1",
            "evidence": [
                {
                    "id": "0070503",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070503"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1N3-1",
            "uniprot_ac": "Q9W1N3",
            "uniprot_id": "Q9W1N3_DROME",
            "refseq_ac": "NP_001286770",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG17280-PB",
                    "type": "synonym"
                },
                {
                    "name": "Levy, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Levy, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase VIa",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide VIA",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 6A",
                    "type": "synonym"
                },
                {
                    "name": "levy, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "levy-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "levy",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RH03295",
                    "type": "synonym"
                },
                {
                    "name": "CG17280",
                    "type": "synonym"
                },
                {
                    "name": "COX6A",
                    "type": "synonym"
                },
                {
                    "name": "COXD",
                    "type": "synonym"
                },
                {
                    "name": "COXE",
                    "type": "synonym"
                },
                {
                    "name": "Cox6a",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17280",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG17280",
                    "type": "synonym"
                },
                {
                    "name": "Levy",
                    "type": "synonym"
                },
                {
                    "name": "VIa",
                    "type": "synonym"
                },
                {
                    "name": "levy",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1N3-1",
            "evidence": [
                {
                    "id": "0070503",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070503"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q49AN0-1",
            "uniprot_ac": "Q49AN0",
            "uniprot_id": "CRY2_HUMAN",
            "refseq_ac": "NP_001120929",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cryptochrome-2",
                    "type": "recommended"
                },
                {
                    "name": "cryptochrome 2 (photolyase-like)",
                    "type": "synonym"
                },
                {
                    "name": "cryptochrome circadian clock 2",
                    "type": "synonym"
                },
                {
                    "name": "cryptochrome-2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "cryptochrome-2",
                    "type": "synonym"
                },
                {
                    "name": "growth-inhibiting protein 37",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRY2",
                    "type": "recommended"
                },
                {
                    "name": "CRY2",
                    "type": "synonym"
                },
                {
                    "name": "HCRY2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0658",
                    "type": "synonym"
                },
                {
                    "name": "PHLL2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q49AN0-1",
            "evidence": [
                {
                    "id": "0070503",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070503"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070503"
}