{
    "disease_id": "DOID:0080358",
    "recommended_name": {
        "id": "DOID:0080358",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080358",
        "name": "mitochondrial complex IV deficiency nuclear type 6",
        "description": "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24."
    },
    "synonyms": [
        {
            "id": "DOID:0080358",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080358",
            "name": "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2",
            "description": ""
        },
        {
            "id": "DOID:0080358",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080358",
            "name": "MC4DN6",
            "description": ""
        },
        {
            "id": "MONDO:0014051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014051",
            "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2",
            "description": "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene."
        },
        {
            "id": "MONDO:0014051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014051",
            "name": "COX15 fatal infantile encephalocardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014051",
            "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014051",
            "name": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2",
            "description": ""
        },
        {
            "id": "MONDO:0014051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014051",
            "name": "fatal infantile encephalocardiomyopathy caused by mutation in COX15",
            "description": ""
        },
        {
            "id": "MONDO:0014051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014051",
            "name": "mitochondrial complex IV deficiency, nuclear type 6",
            "description": ""
        },
        {
            "id": "MONDO:0014051",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014051",
            "name": "CEMCOX2",
            "description": ""
        },
        {
            "id": "MIM:615119",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615119",
            "name": "Mitochondrial complex IV deficiency, nuclear type 6",
            "description": "Mitochondrial complex IV deficiency, nuclear type 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080358"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080358",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080358",
            "categories": []
        },
        {
            "id": "MONDO:0014051",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014051",
            "categories": []
        },
        {
            "id": "MIM:615119",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615119",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R355-1",
            "uniprot_ac": "F1R355",
            "uniprot_id": "F1R355_DANRE",
            "refseq_ac": "NP_957500",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "1.17.99.9",
                    "type": "synonym"
                },
                {
                    "name": "COX15 homolog, cytochrome c oxidase assembly protein",
                    "type": "synonym"
                },
                {
                    "name": "Heme A synthase COX15",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly homolog 15",
                    "type": "synonym"
                },
                {
                    "name": "heme A synthase COX15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cox15",
                    "type": "recommended"
                },
                {
                    "name": "cox15",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa18g06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56240",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77422",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R355-1",
            "evidence": [
                {
                    "id": "0080358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BJ03-1",
            "uniprot_ac": "Q8BJ03",
            "uniprot_id": "COX15_MOUSE",
            "refseq_ac": "NP_659123",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heme A synthase COX15",
                    "type": "recommended"
                },
                {
                    "name": "1.17.99.9",
                    "type": "synonym"
                },
                {
                    "name": "COX15 homolog, cytochrome c oxidase assembly protein",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase assembly protein COX15 homolog",
                    "type": "synonym"
                },
                {
                    "name": "HAS",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly protein COX15 homolog",
                    "type": "synonym"
                },
                {
                    "name": "heme A synthase COX15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox15",
                    "type": "recommended"
                },
                {
                    "name": "2900026G05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cox15",
                    "type": "synonym"
                },
                {
                    "name": "HAS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BJ03-1",
            "evidence": [
                {
                    "id": "0080358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7KZN9-1",
            "uniprot_ac": "Q7KZN9",
            "uniprot_id": "COX15_HUMAN",
            "refseq_ac": "NP_001307903",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Heme A synthase COX15",
                    "type": "recommended"
                },
                {
                    "name": "1.17.99.9",
                    "type": "synonym"
                },
                {
                    "name": "COX15 homolog, cytochrome c oxidase assembly protein",
                    "type": "synonym"
                },
                {
                    "name": "COX15, cytochrome c oxidase assembly homolog",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase assembly protein COX15 homolog",
                    "type": "synonym"
                },
                {
                    "name": "HAS",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly homolog 15",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly homolog COX15",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly protein COX15 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 15",
                    "type": "synonym"
                },
                {
                    "name": "heme A synthase COX15 isoform 9",
                    "type": "synonym"
                },
                {
                    "name": "heme A synthase COX15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX15",
                    "type": "recommended"
                },
                {
                    "name": "CEMCOX2",
                    "type": "synonym"
                },
                {
                    "name": "COX15",
                    "type": "synonym"
                },
                {
                    "name": "HAS",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7KZN9-1",
            "evidence": [
                {
                    "id": "615119",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615119"
                },
                {
                    "id": "0080358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40086-1",
            "uniprot_ac": "P40086",
            "uniprot_id": "COX15_YEAST",
            "refseq_ac": "NP_011068",
            "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": "Heme A synthase COX15",
                    "type": "recommended"
                },
                {
                    "name": "1.17.99.9",
                    "type": "synonym"
                },
                {
                    "name": "Cox15p",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase assembly protein COX15",
                    "type": "synonym"
                },
                {
                    "name": "HAS",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX15",
                    "type": "recommended"
                },
                {
                    "name": "COX15",
                    "type": "synonym"
                }
            ],
            "record_id": "P40086-1",
            "evidence": [
                {
                    "id": "0080358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A414-1",
            "uniprot_ac": "D4A414",
            "uniprot_id": "D4A414_RAT",
            "refseq_ac": "NP_001028871",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "COX15 cytochrome c oxidase assembly homolog",
                    "type": "synonym"
                },
                {
                    "name": "COX15 homolog, cytochrome c oxidase assembly protein",
                    "type": "synonym"
                },
                {
                    "name": "COX15 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase assembly homolog COX15",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly homolog 15",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly homolog COX15",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly protein COX15 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox15",
                    "type": "recommended"
                },
                {
                    "name": "Cox15",
                    "type": "synonym"
                },
                {
                    "name": "LOC100911779",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A414-1",
            "evidence": [
                {
                    "id": "0080358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15791-1",
            "uniprot_ac": "P15791",
            "uniprot_id": "KCC2D_RAT",
            "refseq_ac": "NP_036651",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calcium/calmodulin-dependent protein kinase type II subunit delta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.17",
                    "type": "synonym"
                },
                {
                    "name": "Ca++/calmodulin-dependent protein kinase 2 delta subunit",
                    "type": "synonym"
                },
                {
                    "name": "Ca++/calmodulin-dependent protein kinase II, delta subunit",
                    "type": "synonym"
                },
                {
                    "name": "CaM kinase II subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "CaMK-II subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "caM kinase II subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "caM-kinase II delta chain",
                    "type": "synonym"
                },
                {
                    "name": "caMK-II subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent protein kinase (CaM kinase) II delta",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent protein kinase type II delta chain",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent protein kinase type II subunit delta isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent protein kinase type II subunit delta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Camk2d",
                    "type": "recommended"
                },
                {
                    "name": "CAMK1",
                    "type": "synonym"
                },
                {
                    "name": "Camk2d",
                    "type": "synonym"
                },
                {
                    "name": "Camk2",
                    "type": "synonym"
                },
                {
                    "name": "Camki",
                    "type": "synonym"
                },
                {
                    "name": "RATCAMKI",
                    "type": "synonym"
                }
            ],
            "record_id": "P15791-1",
            "evidence": [
                {
                    "id": "0080358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080358"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W1F5-1",
            "uniprot_ac": "Q9W1F5",
            "uniprot_id": "Q9W1F5_DROME",
            "refseq_ac": "NP_611855",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase assembly protein COX15 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG3803-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG3803",
                    "type": "recommended"
                },
                {
                    "name": "CG3803",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3803",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3803",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W1F5-1",
            "evidence": [
                {
                    "id": "0080358",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080358"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080358"
}