{
    "disease_id": "DOID:0112137",
    "recommended_name": {
        "id": "DOID:0112137",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112137",
        "name": "combined oxidative phosphorylation deficiency 51",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112137",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112137",
            "name": "COXPD51",
            "description": ""
        },
        {
            "id": "MONDO:0033631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033631",
            "name": "combined oxidative phosphorylation deficiency 51",
            "description": ""
        },
        {
            "id": "MONDO:0033631",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033631",
            "name": "COXPD51",
            "description": ""
        },
        {
            "id": "MIM:619057",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619057",
            "name": "Combined oxidative phosphorylation deficiency 51",
            "description": "Combined oxidative phosphorylation deficiency 51"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112137"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112137",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112137",
            "categories": []
        },
        {
            "id": "MONDO:0033631",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033631",
            "categories": []
        },
        {
            "id": "MIM:619057",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619057",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q32LU7-1",
            "uniprot_ac": "Q32LU7",
            "uniprot_id": "PTCD3_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": "Small ribosomal subunit protein mS39",
                    "type": "recommended"
                },
                {
                    "name": "Pentatricopeptide repeat domain-containing protein 3, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ptcd3",
                    "type": "recommended"
                },
                {
                    "name": "zgc:123014",
                    "type": "synonym"
                }
            ],
            "record_id": "Q32LU7-1",
            "evidence": [
                {
                    "id": "0112137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14C51-1",
            "uniprot_ac": "Q14C51",
            "uniprot_id": "PTCD3_MOUSE",
            "refseq_ac": "NP_081551",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein mS39",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S39, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S39",
                    "type": "synonym"
                },
                {
                    "name": "Pentatricopeptide repeat domain-containing protein 3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "pentatricopeptide repeat domain-containing protein 3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "pentatricopeptide repeat-containing protein 3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein mS39 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein mS39",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptcd3",
                    "type": "recommended"
                },
                {
                    "name": "2610034F17Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810422B04Rik",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S39",
                    "type": "synonym"
                },
                {
                    "name": "Mrps39",
                    "type": "synonym"
                },
                {
                    "name": "Ptcd3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14C51-1",
            "evidence": [
                {
                    "id": "0112137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96EY7-1",
            "uniprot_ac": "Q96EY7",
            "uniprot_id": "PTCD3_HUMAN",
            "refseq_ac": "NP_060422",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein mS39",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S39, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S39",
                    "type": "synonym"
                },
                {
                    "name": "Pentatricopeptide repeat domain-containing protein 3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "TRG-15",
                    "type": "synonym"
                },
                {
                    "name": "Transformation-related gene 15 protein",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial small ribosomal subunit protein mS39",
                    "type": "synonym"
                },
                {
                    "name": "pentatricopeptide repeat domain-containing protein 3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "pentatricopeptide repeat-containing protein 3, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein mS39 precursor",
                    "type": "synonym"
                },
                {
                    "name": "transformation-related gene 15 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PTCD3",
                    "type": "recommended"
                },
                {
                    "name": "COXPD51",
                    "type": "synonym"
                },
                {
                    "name": "MRP-S39",
                    "type": "synonym"
                },
                {
                    "name": "MRPS39",
                    "type": "synonym"
                },
                {
                    "name": "PTCD3",
                    "type": "synonym"
                },
                {
                    "name": "TRG15",
                    "type": "synonym"
                },
                {
                    "name": "mS39",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96EY7-1",
            "evidence": [
                {
                    "id": "619057",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619057"
                },
                {
                    "id": "0112137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JU15-1",
            "uniprot_ac": "A0A0G2JU15",
            "uniprot_id": "A0A0G2JU15_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": "Small ribosomal subunit protein mS39",
                    "type": "recommended"
                },
                {
                    "name": "28S ribosomal protein S39, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Pentatricopeptide repeat domain-containing protein 3, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptcd3",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2JU15-1",
            "evidence": [
                {
                    "id": "0112137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112137"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z9A8-1",
            "uniprot_ac": "A1Z9A8",
            "uniprot_id": "PTCD3_DROME",
            "refseq_ac": "NP_610854",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein mS39",
                    "type": "recommended"
                },
                {
                    "name": "CG4679-PA",
                    "type": "synonym"
                },
                {
                    "name": "Pentatricopeptide repeat domain-containing protein 3 homolog, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptcd3",
                    "type": "recommended"
                },
                {
                    "name": "CG4679",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4679",
                    "type": "synonym"
                },
                {
                    "name": "RE17985p",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z9A8-1",
            "evidence": [
                {
                    "id": "0112137",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112137"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112137"
}