{
    "disease_id": "DOID:0070429",
    "recommended_name": {
        "id": "DOID:0070429",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070429",
        "name": "combined oxidative phosphorylation deficiency 56",
        "description": "A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25."
    },
    "synonyms": [
        {
            "id": "DOID:0070429",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070429",
            "name": "COXPD56",
            "description": ""
        },
        {
            "id": "MONDO:0859323",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859323",
            "name": "combined oxidative phosphorylation deficiency 56",
            "description": ""
        },
        {
            "id": "MIM:620139",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620139",
            "name": "Combined oxidative phosphorylation deficiency 56",
            "description": "Combined oxidative phosphorylation deficiency 56"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070429"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070429",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070429",
            "categories": []
        },
        {
            "id": "MONDO:0859323",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859323",
            "categories": []
        },
        {
            "id": "MIM:620139",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620139",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q3B7H2-1",
            "uniprot_ac": "Q3B7H2",
            "uniprot_id": "TAM41_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": "Phosphatidate cytidylyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.41",
                    "type": "synonym"
                },
                {
                    "name": "CDP-DAG synthase",
                    "type": "synonym"
                },
                {
                    "name": "CDP-diacylglycerol synthase",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial translocator assembly and maintenance protein 41 homolog",
                    "type": "synonym"
                },
                {
                    "name": "TAM41",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tamm41",
                    "type": "recommended"
                },
                {
                    "name": "TAM41",
                    "type": "synonym"
                },
                {
                    "name": "zgc:123195",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3B7H2-1",
            "evidence": [
                {
                    "id": "0070429",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070429"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TUH1-1",
            "uniprot_ac": "Q3TUH1",
            "uniprot_id": "TAM41_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidate cytidylyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.41",
                    "type": "synonym"
                },
                {
                    "name": "CDP-DAG synthase",
                    "type": "synonym"
                },
                {
                    "name": "CDP-diacylglycerol synthase",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial translocator assembly and maintenance protein 41 homolog",
                    "type": "synonym"
                },
                {
                    "name": "TAM41",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tamm41",
                    "type": "recommended"
                },
                {
                    "name": "1500001M20Rik",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TUH1-1",
            "evidence": [
                {
                    "id": "0070429",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070429"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96BW9-1",
            "uniprot_ac": "Q96BW9",
            "uniprot_id": "TAM41_HUMAN",
            "refseq_ac": "NP_001271330",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidate cytidylyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.41",
                    "type": "synonym"
                },
                {
                    "name": "CDP-DAG synthase",
                    "type": "synonym"
                },
                {
                    "name": "CDP-diacylglycerol synthase",
                    "type": "synonym"
                },
                {
                    "name": "MMP37-like protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial translocator assembly and maintenance protein 41 homolog",
                    "type": "synonym"
                },
                {
                    "name": "TAM41, mitochondrial translocator assembly and maintenance protein, homolog",
                    "type": "synonym"
                },
                {
                    "name": "TAM41",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial translocator assembly and maintenance protein 41 homolog",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidate cytidylyltransferase, mitochondrial isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidate cytidylyltransferase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TAMM41",
                    "type": "recommended"
                },
                {
                    "name": "C3orf31",
                    "type": "synonym"
                },
                {
                    "name": "COXPD56",
                    "type": "synonym"
                },
                {
                    "name": "RAM41",
                    "type": "synonym"
                },
                {
                    "name": "TAM41",
                    "type": "synonym"
                },
                {
                    "name": "TAMM41",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96BW9-1",
            "evidence": [
                {
                    "id": "620139",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620139"
                },
                {
                    "id": "0070429",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070429"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53230-1",
            "uniprot_ac": "P53230",
            "uniprot_id": "TAM41_YEAST",
            "refseq_ac": "NP_011560",
            "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": "Phosphatidate cytidylyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.41",
                    "type": "synonym"
                },
                {
                    "name": "CDP-DAG synthase",
                    "type": "synonym"
                },
                {
                    "name": "CDP-diacylglycerol synthase",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial import protein MMP37",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial matrix protein of 37 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial translocator assembly and maintenance protein 41",
                    "type": "synonym"
                },
                {
                    "name": "putative phosphatidate cytidylyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TAM41",
                    "type": "recommended"
                },
                {
                    "name": "MMP37",
                    "type": "synonym"
                },
                {
                    "name": "TAM41",
                    "type": "synonym"
                }
            ],
            "record_id": "P53230-1",
            "evidence": [
                {
                    "id": "0070429",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070429"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZKT0-1",
            "uniprot_ac": "D3ZKT0",
            "uniprot_id": "TAM41_RAT",
            "refseq_ac": "NP_001102112",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidate cytidylyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.41",
                    "type": "synonym"
                },
                {
                    "name": "CDP-DAG synthase",
                    "type": "synonym"
                },
                {
                    "name": "CDP-diacylglycerol synthase",
                    "type": "synonym"
                },
                {
                    "name": "MMP37-like protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial translocator assembly and maintenance protein 41 homolog",
                    "type": "synonym"
                },
                {
                    "name": "TAM41, mitochondrial translocator assembly and maintenance protein, homolog",
                    "type": "synonym"
                },
                {
                    "name": "TAM41",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial translocator assembly and maintenance protein 41 homolog",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidate cytidylyltransferase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tamm41",
                    "type": "recommended"
                },
                {
                    "name": "TAM41",
                    "type": "synonym"
                },
                {
                    "name": "Tamm41",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZKT0-1",
            "evidence": [
                {
                    "id": "0070429",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070429"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8INF2-1",
            "uniprot_ac": "Q8INF2",
            "uniprot_id": "TAM41_DROME",
            "refseq_ac": "NP_996213",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidate cytidylyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.7.7.41",
                    "type": "synonym"
                },
                {
                    "name": "CDP-DAG synthase",
                    "type": "synonym"
                },
                {
                    "name": "CDP-diacylglycerol synthase",
                    "type": "synonym"
                },
                {
                    "name": "CG33331-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial translocator assembly and maintenance protein 41 homolog",
                    "type": "synonym"
                },
                {
                    "name": "TAM41",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BcDNA:SD17447",
                    "type": "synonym"
                },
                {
                    "name": "CG33331",
                    "type": "synonym"
                },
                {
                    "name": "CG3641",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33331",
                    "type": "synonym"
                },
                {
                    "name": "Tam41",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8INF2-1",
            "evidence": [
                {
                    "id": "0070429",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070429"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070429"
}