{
    "disease_id": "DOID:0070426",
    "recommended_name": {
        "id": "DOID:0070426",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070426",
        "name": "combined oxidative phosphorylation deficiency 53",
        "description": "A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33."
    },
    "synonyms": [
        {
            "id": "DOID:0070426",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070426",
            "name": "COXPD53",
            "description": ""
        },
        {
            "id": "MONDO:0030378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030378",
            "name": "combined oxidative phosphorylation deficiency 53",
            "description": "An autosomal recessive disorder characterized by hypomyelination, microcephaly, liver dysfunction, and recurrent hypomyelination."
        },
        {
            "id": "MONDO:0030378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030378",
            "name": "COXPD53",
            "description": ""
        },
        {
            "id": "MONDO:0030378",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030378",
            "name": "combined oxidative phosphorylation deficiency due to C2orf69 deficiency",
            "description": ""
        },
        {
            "id": "MIM:619423",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619423",
            "name": "Combined oxidative phosphorylation deficiency 53",
            "description": "Combined oxidative phosphorylation deficiency 53"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070426"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070426",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070426",
            "categories": []
        },
        {
            "id": "MONDO:0030378",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030378",
            "categories": []
        },
        {
            "id": "MIM:619423",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619423",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0JMH2-1",
            "uniprot_ac": "A0JMH2",
            "uniprot_id": "CB069_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial protein C2orf69 homolog",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "zgc:153521",
                    "type": "synonym"
                }
            ],
            "record_id": "A0JMH2-1",
            "evidence": [
                {
                    "id": "0070426",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070426"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D9H8-1",
            "uniprot_ac": "Q9D9H8",
            "uniprot_id": "CB069_MOUSE",
            "refseq_ac": "NP_082822",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial protein C2orf69 homolog",
                    "type": "recommended"
                },
                {
                    "name": "UPF0565 protein C2orf69 homolog",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial protein C2orf69 homolog precursor",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial protein C2orf69 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "1700066M21Rik",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D9H8-1",
            "evidence": [
                {
                    "id": "0070426",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070426"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N8R5-1",
            "uniprot_ac": "Q8N8R5",
            "uniprot_id": "CB069_HUMAN",
            "refseq_ac": "NP_710156",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial protein C2orf69",
                    "type": "recommended"
                },
                {
                    "name": "UPF0565 protein C2orf69",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial protein C2orf69 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial protein C2orf69",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C2orf69",
                    "type": "recommended"
                },
                {
                    "name": "C2orf69",
                    "type": "synonym"
                },
                {
                    "name": "COXPD53",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N8R5-1",
            "evidence": [
                {
                    "id": "619423",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619423"
                },
                {
                    "id": "0070426",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070426"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V7A7-1",
            "uniprot_ac": "G3V7A7",
            "uniprot_id": "G3V7A7_RAT",
            "refseq_ac": "NP_001101689",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Similar to human chromosome 2 open reading frame 69",
                    "type": "synonym"
                },
                {
                    "name": "UPF0565 protein C2orf69 homolog",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial protein C2orf69 homolog precursor",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial protein C2orf69 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C9h2orf69",
                    "type": "recommended"
                },
                {
                    "name": "C9h2orf69",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306941",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V7A7-1",
            "evidence": [
                {
                    "id": "0070426",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070426"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VE69-1",
            "uniprot_ac": "Q9VE69",
            "uniprot_id": "Q9VE69_DROME",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Box A-binding factor",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "CG14308",
                    "type": "recommended"
                },
                {
                    "name": "CG31122",
                    "type": "synonym"
                },
                {
                    "name": "CG7687",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31122",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31122",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VE69-1",
            "evidence": [
                {
                    "id": "0070426",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070426"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070426"
}