{
    "disease_id": "DOID:0111496",
    "recommended_name": {
        "id": "DOID:0111496",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111496",
        "name": "combined oxidative phosphorylation deficiency 17",
        "description": "A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12."
    },
    "synonyms": [
        {
            "id": "DOID:0111496",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111496",
            "name": "COXPD17",
            "description": ""
        },
        {
            "id": "MONDO:0014190",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014190",
            "name": "combined oxidative phosphorylation defect type 17",
            "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the ELAC2 gene."
        },
        {
            "id": "MONDO:0014190",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014190",
            "name": "COXPD17",
            "description": ""
        },
        {
            "id": "MONDO:0014190",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014190",
            "name": "ELAC2 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014190",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014190",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in ELAC2",
            "description": ""
        },
        {
            "id": "MONDO:0014190",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014190",
            "name": "combined oxidative phosphorylation deficiency type 17",
            "description": ""
        },
        {
            "id": "MONDO:0014190",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014190",
            "name": "combined oxidative phosphorylation deficiency 17",
            "description": ""
        },
        {
            "id": "MIM:615440",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615440",
            "name": "Combined oxidative phosphorylation deficiency 17",
            "description": "Combined oxidative phosphorylation deficiency 17"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111496"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111496",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111496",
            "categories": []
        },
        {
            "id": "MONDO:0014190",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014190",
            "categories": []
        },
        {
            "id": "MIM:615440",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615440",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QHE2-1",
            "uniprot_ac": "F1QHE2",
            "uniprot_id": "F1QHE2_DANRE",
            "refseq_ac": "NP_001243133",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc phosphodiesterase ELAC protein 2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.26.11",
                    "type": "synonym"
                },
                {
                    "name": "ElaC homolog protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Ribonuclease Z 2",
                    "type": "synonym"
                },
                {
                    "name": "elaC homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA 3 endonuclease 2",
                    "type": "synonym"
                },
                {
                    "name": "tRNase Z 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc phosphodiesterase ELAC protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "elac2",
                    "type": "recommended"
                },
                {
                    "name": "elac2",
                    "type": "synonym"
                },
                {
                    "name": "im:7145112",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QHE2-1",
            "evidence": [
                {
                    "id": "0111496",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111496"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80Y81-1",
            "uniprot_ac": "Q80Y81",
            "uniprot_id": "RNZ2_MOUSE",
            "refseq_ac": "NP_075968",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc phosphodiesterase ELAC protein 2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.26.11",
                    "type": "synonym"
                },
                {
                    "name": "ElaC homolog protein 2",
                    "type": "synonym"
                },
                {
                    "name": "RNase Z 2",
                    "type": "synonym"
                },
                {
                    "name": "Ribonuclease Z 2",
                    "type": "synonym"
                },
                {
                    "name": "elaC homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "elaC homolog protein 2",
                    "type": "synonym"
                },
                {
                    "name": "putative prostate cancer susceptibility protein",
                    "type": "synonym"
                },
                {
                    "name": "ribonuclease Z 2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA 3 endonuclease 2",
                    "type": "synonym"
                },
                {
                    "name": "tRNase Z 2",
                    "type": "synonym"
                },
                {
                    "name": "tRNase Z(L)",
                    "type": "synonym"
                },
                {
                    "name": "zinc phosphodiesterase ELAC protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "zinc phosphodiesterase ELAC protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Elac2",
                    "type": "recommended"
                },
                {
                    "name": "1110017O07Rik",
                    "type": "synonym"
                },
                {
                    "name": "D11Wsu80e",
                    "type": "synonym"
                },
                {
                    "name": "Elac2",
                    "type": "synonym"
                },
                {
                    "name": "Hpc2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80Y81-1",
            "evidence": [
                {
                    "id": "0111496",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111496"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BQ52-1",
            "uniprot_ac": "Q9BQ52",
            "uniprot_id": "RNZ2_HUMAN",
            "refseq_ac": "NP_001159434",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc phosphodiesterase ELAC protein 2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.26.11",
                    "type": "synonym"
                },
                {
                    "name": "ElaC homolog protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Heredity prostate cancer protein 2",
                    "type": "synonym"
                },
                {
                    "name": "RNase Z 2",
                    "type": "synonym"
                },
                {
                    "name": "Ribonuclease Z 2",
                    "type": "synonym"
                },
                {
                    "name": "elaC homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "elaC homolog protein 2",
                    "type": "synonym"
                },
                {
                    "name": "elaC-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "heredity prostate cancer protein 2",
                    "type": "synonym"
                },
                {
                    "name": "putative prostate cancer susceptibility protein HPC2/ELAC2",
                    "type": "synonym"
                },
                {
                    "name": "ribonuclease Z 2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA 3 endonuclease 2",
                    "type": "synonym"
                },
                {
                    "name": "tRNase Z (long form)",
                    "type": "synonym"
                },
                {
                    "name": "tRNase Z 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc phosphodiesterase ELAC protein 2 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "zinc phosphodiesterase ELAC protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ELAC2",
                    "type": "recommended"
                },
                {
                    "name": "COXPD17",
                    "type": "synonym"
                },
                {
                    "name": "ELAC2",
                    "type": "synonym"
                },
                {
                    "name": "ELC2",
                    "type": "synonym"
                },
                {
                    "name": "HPC2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BQ52-1",
            "evidence": [
                {
                    "id": "615440",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615440"
                },
                {
                    "id": "0111496",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111496"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36159-1",
            "uniprot_ac": "P36159",
            "uniprot_id": "RNZ_YEAST",
            "refseq_ac": "NP_013005",
            "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": "Ribonuclease Z",
                    "type": "recommended"
                },
                {
                    "name": "3.1.26.11",
                    "type": "synonym"
                },
                {
                    "name": "RNase Z",
                    "type": "synonym"
                },
                {
                    "name": "tRNA 3 endonuclease",
                    "type": "synonym"
                },
                {
                    "name": "tRNase Z",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRZ1",
                    "type": "recommended"
                },
                {
                    "name": "TRZ1",
                    "type": "synonym"
                }
            ],
            "record_id": "P36159-1",
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                {
                    "id": "0111496",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111496"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CGS5-1",
            "uniprot_ac": "Q8CGS5",
            "uniprot_id": "RNZ2_RAT",
            "refseq_ac": "NP_758829",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc phosphodiesterase ELAC protein 2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.26.11",
                    "type": "synonym"
                },
                {
                    "name": "ElaC homolog protein 2",
                    "type": "synonym"
                },
                {
                    "name": "RNase Z 2",
                    "type": "synonym"
                },
                {
                    "name": "Ribonuclease Z 2",
                    "type": "synonym"
                },
                {
                    "name": "elaC homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "elaC homolog protein 2",
                    "type": "synonym"
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                {
                    "name": "ribonuclease Z 2",
                    "type": "synonym"
                },
                {
                    "name": "tRNA 3 endonuclease 2",
                    "type": "synonym"
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                {
                    "name": "tRNase Z 2",
                    "type": "synonym"
                },
                {
                    "name": "zinc phosphodiesterase ELAC protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Elac2",
                    "type": "recommended"
                },
                {
                    "name": "Elac2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CGS5-1",
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                {
                    "id": "0111496",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111496"
                }
            ]
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            "uniprot_canonical_ac": "Q8MKW7-1",
            "uniprot_ac": "Q8MKW7",
            "uniprot_id": "RNZ_DROME",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribonuclease Z, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "3.1.26.11",
                    "type": "synonym"
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                {
                    "name": "CG3298-PB",
                    "type": "synonym"
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                {
                    "name": "DmeZ",
                    "type": "synonym"
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                {
                    "name": "Juvenile hormone-inducible protein 1",
                    "type": "synonym"
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                {
                    "name": "RNase Z",
                    "type": "synonym"
                },
                {
                    "name": "RNaseZ-PB",
                    "type": "synonym"
                },
                {
                    "name": "dRNAse Z",
                    "type": "synonym"
                },
                {
                    "name": "juvenile hormone-inducible protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ribonuclease Z",
                    "type": "synonym"
                },
                {
                    "name": "tRNA 3 endonuclease",
                    "type": "synonym"
                },
                {
                    "name": "tRNA 3'-processing endonuclease",
                    "type": "synonym"
                },
                {
                    "name": "tRNase Z",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RNaseZ",
                    "type": "recommended"
                },
                {
                    "name": "CG3298",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3298",
                    "type": "synonym"
                },
                {
                    "name": "JHI-1",
                    "type": "synonym"
                },
                {
                    "name": "JhI-1",
                    "type": "synonym"
                },
                {
                    "name": "RNZ",
                    "type": "synonym"
                },
                {
                    "name": "RNaseZ",
                    "type": "synonym"
                },
                {
                    "name": "dRNase Z",
                    "type": "synonym"
                },
                {
                    "name": "dRNaseZ",
                    "type": "synonym"
                },
                {
                    "name": "dtRNaseZ",
                    "type": "synonym"
                },
                {
                    "name": "jhI-1",
                    "type": "synonym"
                },
                {
                    "name": "tRNAse Z",
                    "type": "synonym"
                },
                {
                    "name": "tRNAseZ",
                    "type": "synonym"
                },
                {
                    "name": "tRNase Z[L]",
                    "type": "synonym"
                },
                {
                    "name": "tRNase Z",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8MKW7-1",
            "evidence": [
                {
                    "id": "0111496",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111496"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111496"
}