{
    "disease_id": "DOID:0070485",
    "recommended_name": {
        "id": "DOID:0070485",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070485",
        "name": "mitochondrial complex IV deficiency nuclear type 23",
        "description": "A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22."
    },
    "synonyms": [
        {
            "id": "DOID:0070485",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070485",
            "name": "MC4DN23",
            "description": ""
        },
        {
            "id": "MONDO:0859520",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859520",
            "name": "mitochondrial complex IV deficiency, nuclear type 23",
            "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX11 gene."
        },
        {
            "id": "MIM:620275",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620275",
            "name": "Mitochondrial complex IV deficiency, nuclear type 23",
            "description": "Mitochondrial complex IV deficiency, nuclear type 23"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070485"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070485",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070485",
            "categories": []
        },
        {
            "id": "MONDO:0859520",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859520",
            "categories": []
        },
        {
            "id": "MIM:620275",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620275",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6P8I6-1",
            "uniprot_ac": "Q6P8I6",
            "uniprot_id": "COX11_MOUSE",
            "refseq_ac": "NP_950173",
            "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 assembly protein COX11, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "COX11 homolog, cytochrome c oxidase assembly protein",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly protein COX11, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox11",
                    "type": "recommended"
                },
                {
                    "name": "2010004I09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cox11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P8I6-1",
            "evidence": [
                {
                    "id": "0070485",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070485"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6N1-1",
            "uniprot_ac": "Q9Y6N1",
            "uniprot_id": "COX11_HUMAN",
            "refseq_ac": "NP_004366",
            "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 assembly protein COX11, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "COX11 homolog, cytochrome c oxidase assembly protein",
                    "type": "synonym"
                },
                {
                    "name": "COX11, cytochrome c oxidase copper chaperone",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly protein COX11, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly protein COX11, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX11",
                    "type": "recommended"
                },
                {
                    "name": "COX11P",
                    "type": "synonym"
                },
                {
                    "name": "COX11",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN23",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6N1-1",
            "evidence": [
                {
                    "id": "620275",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620275"
                },
                {
                    "id": "0070485",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070485"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19516-1",
            "uniprot_ac": "P19516",
            "uniprot_id": "COX11_YEAST",
            "refseq_ac": "NP_015193",
            "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 assembly protein COX11, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Cox11p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX11",
                    "type": "recommended"
                },
                {
                    "name": "COX11",
                    "type": "synonym"
                },
                {
                    "name": "LPI13W",
                    "type": "synonym"
                },
                {
                    "name": "LPI13",
                    "type": "synonym"
                },
                {
                    "name": "PSO7",
                    "type": "synonym"
                }
            ],
            "record_id": "P19516-1",
            "evidence": [
                {
                    "id": "0070485",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070485"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZNJ0-1",
            "uniprot_ac": "D3ZNJ0",
            "uniprot_id": "D3ZNJ0_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 assembly protein COX11, mitochondrial",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox11",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZNJ0-1",
            "evidence": [
                {
                    "id": "0070485",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070485"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11275-1",
            "uniprot_ac": "P11275",
            "uniprot_id": "KCC2A_RAT",
            "refseq_ac": "NP_037052",
            "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 alpha",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.17",
                    "type": "synonym"
                },
                {
                    "name": "Ca2+/calmodulin-dependent protein kinase II alpha",
                    "type": "synonym"
                },
                {
                    "name": "CaM kinase II subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "CaMK-II subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "alpha CaM kinase II",
                    "type": "synonym"
                },
                {
                    "name": "caM kinase II subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "caM-kinase II alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "caMK-II subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent protein kinase (CaM kinase) II alpha",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent protein kinase II alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent protein kinase type II alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "calcium/calmodulin-dependent protein kinase type II subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Camk2a",
                    "type": "recommended"
                },
                {
                    "name": "Camk2a",
                    "type": "synonym"
                },
                {
                    "name": "PK2CDD",
                    "type": "synonym"
                },
                {
                    "name": "PKCCD",
                    "type": "synonym"
                }
            ],
            "record_id": "P11275-1",
            "evidence": [
                {
                    "id": "0070485",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070485"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMQ6-1",
            "uniprot_ac": "Q9VMQ6",
            "uniprot_id": "Q9VMQ6_DROME",
            "refseq_ac": "NP_723086",
            "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 COX11, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG31648-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cox11-PA",
                    "type": "synonym"
                },
                {
                    "name": "complex IV assembly protein COX11",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly protein COX11",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase copper chaperone COX11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox11",
                    "type": "recommended"
                },
                {
                    "name": "CG31648",
                    "type": "synonym"
                },
                {
                    "name": "CG6922",
                    "type": "synonym"
                },
                {
                    "name": "COXZ",
                    "type": "synonym"
                },
                {
                    "name": "Cox11",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31648",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31648",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMQ6-1",
            "evidence": [
                {
                    "id": "0070485",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070485"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070485"
}