{
    "disease_id": "DOID:0070505",
    "recommended_name": {
        "id": "DOID:0070505",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070505",
        "name": "mitochondrial complex IV deficiency nuclear type 20",
        "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070505",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070505",
            "name": "MC4DN20",
            "description": ""
        },
        {
            "id": "MONDO:0033655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033655",
            "name": "mitochondrial complex IV deficiency, nuclear type 20",
            "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX5A gene."
        },
        {
            "id": "MONDO:0033655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033655",
            "name": "MC4DN20",
            "description": ""
        },
        {
            "id": "MONDO:0033655",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033655",
            "name": "mitochondrial complex IV deficiency, nuclear type 20",
            "description": ""
        },
        {
            "id": "MIM:619064",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619064",
            "name": "Mitochondrial complex IV deficiency, nuclear type 20",
            "description": "Mitochondrial complex IV deficiency, nuclear type 20"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070505"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070505",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070505",
            "categories": []
        },
        {
            "id": "MONDO:0033655",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033655",
            "categories": []
        },
        {
            "id": "MIM:619064",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619064",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IVC8-1",
            "uniprot_ac": "A0A0R4IVC8",
            "uniprot_id": "A0A0R4IVC8_DANRE",
            "refseq_ac": "NP_001292506",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 5A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide Va",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 5Ab",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit Vab",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit Va",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cox5ab",
                    "type": "recommended"
                },
                {
                    "name": "Cox5a2",
                    "type": "synonym"
                },
                {
                    "name": "cb01f09",
                    "type": "synonym"
                },
                {
                    "name": "cox5ab",
                    "type": "synonym"
                },
                {
                    "name": "cox5a",
                    "type": "synonym"
                },
                {
                    "name": "mg:cb01f09",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IVC8-1",
            "evidence": [
                {
                    "id": "0070505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070505"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12787-1",
            "uniprot_ac": "P12787",
            "uniprot_id": "COX5A_MOUSE",
            "refseq_ac": "NP_031773",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 5A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide Va",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide Va",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 5A, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 5A, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit Va",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox5a",
                    "type": "recommended"
                },
                {
                    "name": "CcOX",
                    "type": "synonym"
                },
                {
                    "name": "Cox5a",
                    "type": "synonym"
                }
            ],
            "record_id": "P12787-1",
            "evidence": [
                {
                    "id": "0070505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070505"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20674-1",
            "uniprot_ac": "P20674",
            "uniprot_id": "COX5A_HUMAN",
            "refseq_ac": "NP_004246",
            "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 5A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide Va",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide Va",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 5A, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 5A, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit Va",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial cytochrome c oxidase subunit Va",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX5A",
                    "type": "recommended"
                },
                {
                    "name": "COX-VA",
                    "type": "synonym"
                },
                {
                    "name": "COX5A",
                    "type": "synonym"
                },
                {
                    "name": "COX",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN20",
                    "type": "synonym"
                },
                {
                    "name": "VA",
                    "type": "synonym"
                }
            ],
            "record_id": "P20674-1",
            "evidence": [
                {
                    "id": "619064",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619064"
                },
                {
                    "id": "0070505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070505"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P00427-1",
            "uniprot_ac": "P00427",
            "uniprot_id": "COX6_YEAST",
            "refseq_ac": "NP_011918",
            "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 6, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide VI",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit VI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX6",
                    "type": "recommended"
                },
                {
                    "name": "COX6",
                    "type": "synonym"
                }
            ],
            "record_id": "P00427-1",
            "evidence": [
                {
                    "id": "0070505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070505"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11240-1",
            "uniprot_ac": "P11240",
            "uniprot_id": "COX5A_RAT",
            "refseq_ac": "NP_665726",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome c oxidase subunit 5A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide Va",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide Va",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 5A, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 5A, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase, subunit Va",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox5a",
                    "type": "recommended"
                },
                {
                    "name": "LOC100361008",
                    "type": "recommended"
                },
                {
                    "name": "Cox5a",
                    "type": "synonym"
                },
                {
                    "name": "LOC100361008",
                    "type": "synonym"
                }
            ],
            "record_id": "P11240-1",
            "evidence": [
                {
                    "id": "0070505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070505"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97571-1",
            "uniprot_ac": "P97571",
            "uniprot_id": "CAN1_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": "Calpain-1 catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.52",
                    "type": "synonym"
                },
                {
                    "name": "CANP 1",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-activated neutral proteinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Calpain mu-type",
                    "type": "synonym"
                },
                {
                    "name": "Calpain-1 large subunit",
                    "type": "synonym"
                },
                {
                    "name": "Micromolar-calpain",
                    "type": "synonym"
                },
                {
                    "name": "muCANP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Capn1",
                    "type": "recommended"
                },
                {
                    "name": "Cls1",
                    "type": "synonym"
                }
            ],
            "record_id": "P97571-1",
            "evidence": [
                {
                    "id": "0070505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070505"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q94514-1",
            "uniprot_ac": "Q94514",
            "uniprot_id": "COX5A_DROME",
            "refseq_ac": "NP_001262488",
            "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 subunit 5A, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG14724-PC",
                    "type": "synonym"
                },
                {
                    "name": "COX5A-PC",
                    "type": "synonym"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide Va",
                    "type": "synonym"
                },
                {
                    "name": "complex IV",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase Va, mt precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide Va",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 5A, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit Va preprotein",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome oxidase Va",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome oxidase subunit Va",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome-c oxidase subunit Va",
                    "type": "synonym"
                },
                {
                    "name": "subunit 5A",
                    "type": "synonym"
                },
                {
                    "name": "subunit Va of complex IV",
                    "type": "synonym"
                },
                {
                    "name": "tenured",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX5A",
                    "type": "recommended"
                },
                {
                    "name": "CG14724",
                    "type": "synonym"
                },
                {
                    "name": "COX-5A",
                    "type": "synonym"
                },
                {
                    "name": "COX5A",
                    "type": "synonym"
                },
                {
                    "name": "COX5a",
                    "type": "synonym"
                },
                {
                    "name": "COXA_DROME",
                    "type": "synonym"
                },
                {
                    "name": "COXA",
                    "type": "synonym"
                },
                {
                    "name": "COX",
                    "type": "synonym"
                },
                {
                    "name": "CoVa",
                    "type": "synonym"
                },
                {
                    "name": "Cox5a",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14724",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14724",
                    "type": "synonym"
                },
                {
                    "name": "Q94514",
                    "type": "synonym"
                },
                {
                    "name": "Va",
                    "type": "synonym"
                },
                {
                    "name": "cova",
                    "type": "synonym"
                },
                {
                    "name": "cox5A",
                    "type": "synonym"
                },
                {
                    "name": "mito",
                    "type": "synonym"
                },
                {
                    "name": "tend",
                    "type": "synonym"
                }
            ],
            "record_id": "Q94514-1",
            "evidence": [
                {
                    "id": "0070505",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070505"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070505"
}