{
    "disease_id": "DOID:0070430",
    "recommended_name": {
        "id": "DOID:0070430",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070430",
        "name": "combined oxidative phosphorylation deficiency 57",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12."
    },
    "synonyms": [
        {
            "id": "DOID:0070430",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070430",
            "name": "COXPD57",
            "description": ""
        },
        {
            "id": "MONDO:0859337",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859337",
            "name": "combined oxidative phosphorylation deficiency 57",
            "description": ""
        },
        {
            "id": "MIM:620167",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620167",
            "name": "Combined oxidative phosphorylation deficiency 57",
            "description": "Combined oxidative phosphorylation deficiency 57"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070430"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070430",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070430",
            "categories": []
        },
        {
            "id": "MONDO:0859337",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859337",
            "categories": []
        },
        {
            "id": "MIM:620167",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620167",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q80ZM8-1",
            "uniprot_ac": "Q80ZM8",
            "uniprot_id": "CRLS1_MOUSE",
            "refseq_ac": "NP_001019556",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cardiolipin synthase (CMP-forming)",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.41",
                    "type": "synonym"
                },
                {
                    "name": "CLS",
                    "type": "synonym"
                },
                {
                    "name": "cardiolipin synthase (CMP-forming) isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cardiolipin synthase (CMP-forming)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crls1",
                    "type": "recommended"
                },
                {
                    "name": "0610009I22Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930557M15Rik",
                    "type": "synonym"
                },
                {
                    "name": "5730490M08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Crls1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80ZM8-1",
            "evidence": [
                {
                    "id": "0070430",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070430"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UJA2-1",
            "uniprot_ac": "Q9UJA2",
            "uniprot_id": "CRLS1_HUMAN",
            "refseq_ac": "NP_001120930",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cardiolipin synthase (CMP-forming)",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.41",
                    "type": "synonym"
                },
                {
                    "name": "CLS",
                    "type": "synonym"
                },
                {
                    "name": "Protein GCD10 homolog",
                    "type": "synonym"
                },
                {
                    "name": "cardiolipin synthase (CMP-forming) isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "cardiolipin synthase (CMP-forming)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRLS1",
                    "type": "recommended"
                },
                {
                    "name": "C20orf155",
                    "type": "synonym"
                },
                {
                    "name": "CLS1",
                    "type": "synonym"
                },
                {
                    "name": "CLS",
                    "type": "synonym"
                },
                {
                    "name": "COSPD57",
                    "type": "synonym"
                },
                {
                    "name": "CRLS1",
                    "type": "synonym"
                },
                {
                    "name": "GCD10",
                    "type": "synonym"
                },
                {
                    "name": "dJ967N21.6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UJA2-1",
            "evidence": [
                {
                    "id": "620167",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620167"
                },
                {
                    "id": "0070430",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070430"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07560-1",
            "uniprot_ac": "Q07560",
            "uniprot_id": "CRLS1_YEAST",
            "refseq_ac": "NP_010139",
            "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": "Cardiolipin synthase (CMP-forming)",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.41",
                    "type": "synonym"
                },
                {
                    "name": "CLS",
                    "type": "synonym"
                },
                {
                    "name": "cardiolipin synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CRD1",
                    "type": "recommended"
                },
                {
                    "name": "CLS1",
                    "type": "synonym"
                },
                {
                    "name": "CRD1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07560-1",
            "evidence": [
                {
                    "id": "0070430",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070430"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U2V5-1",
            "uniprot_ac": "Q5U2V5",
            "uniprot_id": "CRLS1_RAT",
            "refseq_ac": "NP_001014280",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cardiolipin synthase (CMP-forming)",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.41",
                    "type": "synonym"
                },
                {
                    "name": "CLS",
                    "type": "synonym"
                },
                {
                    "name": "cardiolipin synthase (CMP-forming)",
                    "type": "synonym"
                },
                {
                    "name": "cardiolipin synthetase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Crls1",
                    "type": "recommended"
                },
                {
                    "name": "Crls1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1311037",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U2V5-1",
            "evidence": [
                {
                    "id": "0070430",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070430"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8MZC4-1",
            "uniprot_ac": "Q8MZC4",
            "uniprot_id": "CRLS1_DROME",
            "refseq_ac": "NP_001262969",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable cardiolipin synthase (CMP-forming)",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.41",
                    "type": "synonym"
                },
                {
                    "name": "CG4774-PD",
                    "type": "synonym"
                },
                {
                    "name": "CLS-PD",
                    "type": "synonym"
                },
                {
                    "name": "CLS",
                    "type": "synonym"
                },
                {
                    "name": "cardiolipin synthase, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "cardiolipin synthase",
                    "type": "synonym"
                },
                {
                    "name": "cardiolipin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLS",
                    "type": "recommended"
                },
                {
                    "name": "CG4774",
                    "type": "synonym"
                },
                {
                    "name": "CLS",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4774",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4774",
                    "type": "synonym"
                },
                {
                    "name": "dCLS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8MZC4-1",
            "evidence": [
                {
                    "id": "0070430",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070430"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070430"
}