{
    "disease_id": "DOID:0070427",
    "recommended_name": {
        "id": "DOID:0070427",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070427",
        "name": "combined oxidative phosphorylation deficiency 54",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070427",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070427",
            "name": "COXPD54",
            "description": ""
        },
        {
            "id": "MONDO:0030543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030543",
            "name": "combined oxidative phosphorylation deficiency 54",
            "description": ""
        },
        {
            "id": "MONDO:0030543",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030543",
            "name": "COXPD54",
            "description": ""
        },
        {
            "id": "MIM:619737",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619737",
            "name": "Combined oxidative phosphorylation deficiency 54",
            "description": "Combined oxidative phosphorylation deficiency 54"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070427"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070427",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070427",
            "categories": []
        },
        {
            "id": "MONDO:0030543",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030543",
            "categories": []
        },
        {
            "id": "MIM:619737",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619737",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "X1WBZ5-1",
            "uniprot_ac": "X1WBZ5",
            "uniprot_id": "X1WBZ5_DANRE",
            "refseq_ac": "XP_683289",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial ribonuclease P catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "3.1.26.5",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial ribonuclease P protein 3",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribonuclease P catalytic subunit isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prorp",
                    "type": "recommended"
                },
                {
                    "name": "prorp",
                    "type": "synonym"
                }
            ],
            "record_id": "X1WBZ5-1",
            "evidence": [
                {
                    "id": "0070427",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070427"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8JZY4-1",
            "uniprot_ac": "Q8JZY4",
            "uniprot_id": "MRPP3_MOUSE",
            "refseq_ac": "NP_079649",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial ribonuclease P catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "3.1.26.5",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial RNase P protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial ribonuclease P protein 3",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial RNase P protein 3",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribonuclease P catalytic subunit precursor",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribonuclease P catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribonuclease P protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prorp",
                    "type": "recommended"
                },
                {
                    "name": "1110008L16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0391",
                    "type": "synonym"
                },
                {
                    "name": "Mrpp3",
                    "type": "synonym"
                },
                {
                    "name": "Prorp",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0391",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8JZY4-1",
            "evidence": [
                {
                    "id": "0070427",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070427"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15091-1",
            "uniprot_ac": "O15091",
            "uniprot_id": "MRPP3_HUMAN",
            "refseq_ac": "NP_001243607",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial ribonuclease P catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "3.1.26.5",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial RNase P protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial ribonuclease P protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Protein only RNase P catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial RNase P protein 3",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial RNase P subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribonuclease P catalytic subunit isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribonuclease P catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribonuclease P protein 3",
                    "type": "synonym"
                },
                {
                    "name": "proteinaceous RNase P",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRORP",
                    "type": "recommended"
                },
                {
                    "name": "COXPD54",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0391",
                    "type": "synonym"
                },
                {
                    "name": "MRPP3",
                    "type": "synonym"
                },
                {
                    "name": "PRORP",
                    "type": "synonym"
                }
            ],
            "record_id": "O15091-1",
            "evidence": [
                {
                    "id": "619737",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619737"
                },
                {
                    "id": "0070427",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070427"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B5DF07-1",
            "uniprot_ac": "B5DF07",
            "uniprot_id": "MRPP3_RAT",
            "refseq_ac": "NP_001100200",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial ribonuclease P catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "3.1.26.5",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial RNase P protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial ribonuclease P protein 3",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial RNase P protein 3",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribonuclease P catalytic subunit precursor",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribonuclease P catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ribonuclease P protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prorp",
                    "type": "recommended"
                },
                {
                    "name": "Mrpp3",
                    "type": "synonym"
                },
                {
                    "name": "Prorp",
                    "type": "synonym"
                },
                {
                    "name": "RGD1305089",
                    "type": "synonym"
                }
            ],
            "record_id": "B5DF07-1",
            "evidence": [
                {
                    "id": "0070427",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070427"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W413-1",
            "uniprot_ac": "Q9W413",
            "uniprot_id": "MRPP3_DROME",
            "refseq_ac": "NP_001245549",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial ribonuclease P catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "3.1.26.5",
                    "type": "synonym"
                },
                {
                    "name": "CG15896-PB",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial RNase P protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Mitochondrial ribonuclease P protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Protein mulder",
                    "type": "synonym"
                },
                {
                    "name": "Protein only RNase P catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "mldr-PB",
                    "type": "synonym"
                },
                {
                    "name": "mulder, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "mulder",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mldr",
                    "type": "recommended"
                },
                {
                    "name": "CG15896",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15896",
                    "type": "synonym"
                },
                {
                    "name": "MRPP3",
                    "type": "synonym"
                },
                {
                    "name": "PRORP",
                    "type": "synonym"
                },
                {
                    "name": "mldr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W413-1",
            "evidence": [
                {
                    "id": "0070427",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070427"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070427"
}