{
    "disease_id": "DOID:0070497",
    "recommended_name": {
        "id": "DOID:0070497",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070497",
        "name": "mitochondrial complex IV deficiency nuclear type 11",
        "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44."
    },
    "synonyms": [
        {
            "id": "DOID:0070497",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070497",
            "name": "MC4DN11",
            "description": ""
        },
        {
            "id": "MONDO:0033645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033645",
            "name": "mitochondrial complex IV deficiency, nuclear type 11",
            "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the COX20 gene."
        },
        {
            "id": "MONDO:0033645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033645",
            "name": "MC4DN11",
            "description": ""
        },
        {
            "id": "MONDO:0033645",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033645",
            "name": "mitochondrial complex IV deficiency, nuclear type 11",
            "description": ""
        },
        {
            "id": "MIM:619054",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619054",
            "name": "Mitochondrial complex IV deficiency, nuclear type 11",
            "description": "Mitochondrial complex IV deficiency, nuclear type 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070497"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070497",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070497",
            "categories": []
        },
        {
            "id": "MONDO:0033645",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033645",
            "categories": []
        },
        {
            "id": "MIM:619054",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619054",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DH88-1",
            "uniprot_ac": "Q6DH88",
            "uniprot_id": "COX20_DANRE",
            "refseq_ac": "NP_001002712",
            "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 assembly protein COX20, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "COX20 cytochrome c oxidase assembly factor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly protein COX20, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase protein 20 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein FAM36A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cox20",
                    "type": "recommended"
                },
                {
                    "name": "cox20",
                    "type": "synonym"
                },
                {
                    "name": "fam36a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92598",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DH88-1",
            "evidence": [
                {
                    "id": "0070497",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070497"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D7J4-1",
            "uniprot_ac": "Q9D7J4",
            "uniprot_id": "COX20_MOUSE",
            "refseq_ac": "NP_079787",
            "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 COX20, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "COX20 Cox2 chaperone",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly protein COX20, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase protein 20 homolog",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 36, member A",
                    "type": "synonym"
                },
                {
                    "name": "protein FAM36A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox20",
                    "type": "recommended"
                },
                {
                    "name": "2310005N03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cox20",
                    "type": "synonym"
                },
                {
                    "name": "Fam36a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D7J4-1",
            "evidence": [
                {
                    "id": "0070497",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070497"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5RI15-1",
            "uniprot_ac": "Q5RI15",
            "uniprot_id": "COX20_HUMAN",
            "refseq_ac": "NP_001299800",
            "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 COX20, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "COX20 Cox2 chaperone homolog",
                    "type": "synonym"
                },
                {
                    "name": "COX20, cytochrome c oxidase assembly factor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly protein COX20, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly protein COX20, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase protein 20 homolog",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 36, member A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX20",
                    "type": "recommended"
                },
                {
                    "name": "COX20",
                    "type": "synonym"
                },
                {
                    "name": "FAM36A",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RI15-1",
            "evidence": [
                {
                    "id": "619054",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619054"
                },
                {
                    "id": "0070497",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070497"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04935-1",
            "uniprot_ac": "Q04935",
            "uniprot_id": "COX20_YEAST",
            "refseq_ac": "NP_010517",
            "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 COX20, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Cox20p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COX20",
                    "type": "recommended"
                },
                {
                    "name": "COX20",
                    "type": "synonym"
                },
                {
                    "name": "YD9934.15c",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04935-1",
            "evidence": [
                {
                    "id": "0070497",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070497"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0KZQ7-1",
            "uniprot_ac": "A0ABK0KZQ7",
            "uniprot_id": "A0ABK0KZQ7_RAT",
            "refseq_ac": "NP_001099446",
            "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 COX20, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "COX20 Cox2 chaperone homolog",
                    "type": "synonym"
                },
                {
                    "name": "COX20 cytochrome C oxidase assembly factor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase assembly factor COX20",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 36, member A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox20",
                    "type": "recommended"
                },
                {
                    "name": "Cox20",
                    "type": "synonym"
                },
                {
                    "name": "Fam36a",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309105",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0KZQ7-1",
            "evidence": [
                {
                    "id": "0070497",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070497"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZSY5-1",
            "uniprot_ac": "A0A8I5ZSY5",
            "uniprot_id": "A0A8I5ZSY5_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 COX20, mitochondrial",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Cox20",
                    "type": "recommended"
                },
                {
                    "name": "LOC120096563",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZSY5-1",
            "evidence": [
                {
                    "id": "0070497",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070497"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VG00-1",
            "uniprot_ac": "Q9VG00",
            "uniprot_id": "Q9VG00_DROME",
            "refseq_ac": "NP_524942",
            "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 COX20, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG7620-PA",
                    "type": "synonym"
                },
                {
                    "name": "l(3)87Df-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 87Df",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "l(3)87Df",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:SD27354",
                    "type": "synonym"
                },
                {
                    "name": "CG7620",
                    "type": "synonym"
                },
                {
                    "name": "COX20",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7620",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7620",
                    "type": "synonym"
                },
                {
                    "name": "S12",
                    "type": "synonym"
                },
                {
                    "name": "l(3)87Df",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S12",
                    "type": "synonym"
                },
                {
                    "name": "l(3)s12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VG00-1",
            "evidence": [
                {
                    "id": "0070497",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070497"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070497"
}