{
    "disease_id": "DOID:0070498",
    "recommended_name": {
        "id": "DOID:0070498",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070498",
        "name": "mitochondrial complex IV deficiency nuclear type 12",
        "description": "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070498",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070498",
            "name": "MC4DN12",
            "description": ""
        },
        {
            "id": "MONDO:0033646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033646",
            "name": "mitochondrial complex IV deficiency, nuclear type 12",
            "description": "Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the PET100 gene."
        },
        {
            "id": "MONDO:0033646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033646",
            "name": "MC4DN12",
            "description": ""
        },
        {
            "id": "MONDO:0033646",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033646",
            "name": "mitochondrial complex IV deficiency, nuclear type 12",
            "description": ""
        },
        {
            "id": "MIM:619055",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619055",
            "name": "Mitochondrial complex IV deficiency, nuclear type 12",
            "description": "Mitochondrial complex IV deficiency, nuclear type 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070498"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070498",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070498",
            "categories": []
        },
        {
            "id": "MONDO:0033646",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033646",
            "categories": []
        },
        {
            "id": "MIM:619055",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619055",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "X1WHJ8-1",
            "uniprot_ac": "X1WHJ8",
            "uniprot_id": "X1WHJ8_DANRE",
            "refseq_ac": "NP_001289986",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "PET100 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Protein PET100 homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "protein PET100 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pet100",
                    "type": "recommended"
                },
                {
                    "name": "pet100",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-280h11.2",
                    "type": "synonym"
                }
            ],
            "record_id": "X1WHJ8-1",
            "evidence": [
                {
                    "id": "0070498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070498"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0DJE0-1",
            "uniprot_ac": "P0DJE0",
            "uniprot_id": "PT100_MOUSE",
            "refseq_ac": "NP_001182173",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein PET100 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "protein PET100 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pet100",
                    "type": "recommended"
                },
                {
                    "name": "2900053A13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pet100",
                    "type": "synonym"
                }
            ],
            "record_id": "P0DJE0-1",
            "evidence": [
                {
                    "id": "0070498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070498"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P0DJ07-1",
            "uniprot_ac": "P0DJ07",
            "uniprot_id": "PT100_HUMAN",
            "refseq_ac": "NP_001164626",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein PET100 homolog, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "PET100 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein PET100 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PET100",
                    "type": "recommended"
                },
                {
                    "name": "C19orf79",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN12",
                    "type": "synonym"
                },
                {
                    "name": "PET100",
                    "type": "synonym"
                }
            ],
            "record_id": "P0DJ07-1",
            "evidence": [
                {
                    "id": "619055",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619055"
                },
                {
                    "id": "0070498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070498"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZHD3-1",
            "uniprot_ac": "D3ZHD3",
            "uniprot_id": "D3ZHD3_RAT",
            "refseq_ac": "NP_001182174",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "PET100 cytochrome c oxidase chaperone",
                    "type": "synonym"
                },
                {
                    "name": "PET100 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein PET100 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pet100",
                    "type": "recommended"
                },
                {
                    "name": "Pet100",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZHD3-1",
            "evidence": [
                {
                    "id": "0070498",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070498"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070498"
}