{
    "disease_id": "DOID:0112112",
    "recommended_name": {
        "id": "DOID:0112112",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112112",
        "name": "combined oxidative phosphorylation deficiency 48",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112112",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112112",
            "name": "COXPD48",
            "description": ""
        },
        {
            "id": "MONDO:0033566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033566",
            "name": "combined oxidative phosphorylation deficiency 48",
            "description": ""
        },
        {
            "id": "MONDO:0033566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033566",
            "name": "COXPD48",
            "description": ""
        },
        {
            "id": "MIM:619012",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619012",
            "name": "Combined oxidative phosphorylation deficiency 48",
            "description": "Combined oxidative phosphorylation deficiency 48"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112112"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112112",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112112",
            "categories": []
        },
        {
            "id": "MONDO:0033566",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033566",
            "categories": []
        },
        {
            "id": "MIM:619012",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619012",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q4KMK0-1",
            "uniprot_ac": "Q4KMK0",
            "uniprot_id": "NSUN3_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": "tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "NOL1/NOP2/Sun domain family member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nsun3",
                    "type": "recommended"
                },
                {
                    "name": "im:7142194",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109983",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4KMK0-1",
            "evidence": [
                {
                    "id": "0112112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CCT7-1",
            "uniprot_ac": "Q8CCT7",
            "uniprot_id": "NSUN3_MOUSE",
            "refseq_ac": "NP_849256",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "NOL1/NOP2/Sun domain family 3",
                    "type": "synonym"
                },
                {
                    "name": "NOL1/NOP2/Sun domain family member 3",
                    "type": "synonym"
                },
                {
                    "name": "putative methyltransferase NSUN3",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nsun3",
                    "type": "recommended"
                },
                {
                    "name": "6720484A09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Nsun3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CCT7-1",
            "evidence": [
                {
                    "id": "0112112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H649-1",
            "uniprot_ac": "Q9H649",
            "uniprot_id": "NSUN3_HUMAN",
            "refseq_ac": "NP_071355",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "2.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "NOL1/NOP2/Sun domain family member 3",
                    "type": "synonym"
                },
                {
                    "name": "NOP2/Sun RNA methyltransferase family member 3",
                    "type": "synonym"
                },
                {
                    "name": "putative methyltransferase NSUN3",
                    "type": "synonym"
                },
                {
                    "name": "tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NSUN3",
                    "type": "recommended"
                },
                {
                    "name": "COXPD48",
                    "type": "synonym"
                },
                {
                    "name": "MST077",
                    "type": "synonym"
                },
                {
                    "name": "MSTP077",
                    "type": "synonym"
                },
                {
                    "name": "NSUN3",
                    "type": "synonym"
                },
                {
                    "name": "UG0651E06",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H649-1",
            "evidence": [
                {
                    "id": "619012",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619012"
                },
                {
                    "id": "0112112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L7V7-1",
            "uniprot_ac": "A0ABK0L7V7",
            "uniprot_id": "A0ABK0L7V7_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NOP2/Sun RNA methyltransferase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nsun3",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0L7V7-1",
            "evidence": [
                {
                    "id": "0112112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112112"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112112"
}