{
    "disease_id": "DOID:0111495",
    "recommended_name": {
        "id": "DOID:0111495",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111495",
        "name": "combined oxidative phosphorylation deficiency 33",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111495",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111495",
            "name": "COXPD33",
            "description": ""
        },
        {
            "id": "MONDO:0054677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054677",
            "name": "combined oxidative phosphorylation deficiency 33",
            "description": ""
        },
        {
            "id": "MONDO:0054677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054677",
            "name": "combined oxidative phosphorylation deficiency 33",
            "description": ""
        },
        {
            "id": "MONDO:0054677",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054677",
            "name": "COXPD33",
            "description": ""
        },
        {
            "id": "MIM:617713",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617713",
            "name": "Combined oxidative phosphorylation deficiency 33",
            "description": "Combined oxidative phosphorylation deficiency 33"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111495"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111495",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111495",
            "categories": []
        },
        {
            "id": "MONDO:0054677",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054677",
            "categories": []
        },
        {
            "id": "MIM:617713",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617713",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R3F7-1",
            "uniprot_ac": "F1R3F7",
            "uniprot_id": "F1R3F7_DANRE",
            "refseq_ac": "NP_001017858",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement component 1 Q subcomponent-binding protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "complement component 1 Q subcomponent-binding protein, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "c1qbp",
                    "type": "recommended"
                },
                {
                    "name": "c1qbp",
                    "type": "synonym"
                },
                {
                    "name": "fa14h03",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb785",
                    "type": "synonym"
                },
                {
                    "name": "si:ch1073-329n19.2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa14h03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110137",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R3F7-1",
            "evidence": [
                {
                    "id": "0111495",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111495"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35658-1",
            "uniprot_ac": "O35658",
            "uniprot_id": "C1QBP_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement component 1 Q subcomponent-binding protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "C1qBP",
                    "type": "synonym"
                },
                {
                    "name": "GC1q-R protein",
                    "type": "synonym"
                },
                {
                    "name": "Glycoprotein gC1qBP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C1qbp",
                    "type": "recommended"
                },
                {
                    "name": "Gc1qbp",
                    "type": "synonym"
                }
            ],
            "record_id": "O35658-1",
            "evidence": [
                {
                    "id": "0111495",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111495"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07021-1",
            "uniprot_ac": "Q07021",
            "uniprot_id": "C1QBP_HUMAN",
            "refseq_ac": "NP_001203",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement component 1 Q subcomponent-binding protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ASF/SF2-associated protein p32",
                    "type": "synonym"
                },
                {
                    "name": "C1q globular domain-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "C1qBP",
                    "type": "synonym"
                },
                {
                    "name": "Glycoprotein gC1qBP",
                    "type": "synonym"
                },
                {
                    "name": "Hyaluronan-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial matrix protein p32",
                    "type": "synonym"
                },
                {
                    "name": "SF2AP32",
                    "type": "synonym"
                },
                {
                    "name": "complement component 1 Q subcomponent-binding protein, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement component 1 Q subcomponent-binding protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "complement component 1, q subcomponent binding protein",
                    "type": "synonym"
                },
                {
                    "name": "gC1q-R protein",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein gC1qBP",
                    "type": "synonym"
                },
                {
                    "name": "hyaluronan-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial matrix protein p32",
                    "type": "synonym"
                },
                {
                    "name": "p33",
                    "type": "synonym"
                },
                {
                    "name": "splicing factor SF2-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C1QBP",
                    "type": "recommended"
                },
                {
                    "name": "C1QBP",
                    "type": "synonym"
                },
                {
                    "name": "COXPD33",
                    "type": "synonym"
                },
                {
                    "name": "GC1QBP",
                    "type": "synonym"
                },
                {
                    "name": "HABP1",
                    "type": "synonym"
                },
                {
                    "name": "SF2AP32",
                    "type": "synonym"
                },
                {
                    "name": "SF2P32",
                    "type": "synonym"
                },
                {
                    "name": "SF2p32",
                    "type": "synonym"
                },
                {
                    "name": "gC1Q-R",
                    "type": "synonym"
                },
                {
                    "name": "gC1qR",
                    "type": "synonym"
                },
                {
                    "name": "p32",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07021-1",
            "evidence": [
                {
                    "id": "617713",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617713"
                },
                {
                    "id": "0111495",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111495"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40513-1",
            "uniprot_ac": "P40513",
            "uniprot_id": "MAM33_YEAST",
            "refseq_ac": "NP_012194",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial acidic protein MAM33",
                    "type": "recommended"
                },
                {
                    "name": "Mam33p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAM33",
                    "type": "recommended"
                },
                {
                    "name": "MAM33",
                    "type": "synonym"
                }
            ],
            "record_id": "P40513-1",
            "evidence": [
                {
                    "id": "0111495",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111495"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35796-1",
            "uniprot_ac": "O35796",
            "uniprot_id": "C1QBP_RAT",
            "refseq_ac": "NP_062132",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complement component 1 Q subcomponent-binding protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "C1qBP",
                    "type": "synonym"
                },
                {
                    "name": "GC1q-R protein",
                    "type": "synonym"
                },
                {
                    "name": "Glycoprotein gC1qBP",
                    "type": "synonym"
                },
                {
                    "name": "complement component 1 Q subcomponent-binding protein, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "complement component 1 Q subcomponent-binding protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "complement component 1, q subcomponent binding protein",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein gC1qBP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C1qbp",
                    "type": "recommended"
                },
                {
                    "name": "C1qbp",
                    "type": "synonym"
                },
                {
                    "name": "Gc1qbp",
                    "type": "synonym"
                },
                {
                    "name": "Habp1",
                    "type": "synonym"
                },
                {
                    "name": "gC1qR",
                    "type": "synonym"
                }
            ],
            "record_id": "O35796-1",
            "evidence": [
                {
                    "id": "0111495",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111495"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53621-1",
            "uniprot_ac": "P53621",
            "uniprot_id": "COPA_HUMAN",
            "refseq_ac": "NP_001091868",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coatomer subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-COP",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-coat protein",
                    "type": "synonym"
                },
                {
                    "name": "COPI coat complex subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "HEP-COP",
                    "type": "synonym"
                },
                {
                    "name": "HEPCOP",
                    "type": "synonym"
                },
                {
                    "name": "Xenopsin-related peptide",
                    "type": "synonym"
                },
                {
                    "name": "alpha coat protein",
                    "type": "synonym"
                },
                {
                    "name": "coatomer protein complex subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "coatomer subunit alpha isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "proxenin",
                    "type": "synonym"
                },
                {
                    "name": "xenin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COPA",
                    "type": "recommended"
                },
                {
                    "name": "AIAISD1",
                    "type": "synonym"
                },
                {
                    "name": "AIAISD",
                    "type": "synonym"
                },
                {
                    "name": "AILJK",
                    "type": "synonym"
                },
                {
                    "name": "COPA",
                    "type": "synonym"
                },
                {
                    "name": "HEP-COP",
                    "type": "synonym"
                },
                {
                    "name": "alpha-COP",
                    "type": "synonym"
                }
            ],
            "record_id": "P53621-1",
            "evidence": [
                {
                    "id": "0111495",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111495"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111495"
}