{
    "disease_id": "DOID:0111476",
    "recommended_name": {
        "id": "DOID:0111476",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111476",
        "name": "combined oxidative phosphorylation deficiency 19",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111476",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111476",
            "name": "COXPD19",
            "description": ""
        },
        {
            "id": "DOID:0111476",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111476",
            "name": "severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014269",
            "name": "combined oxidative phosphorylation deficiency 19",
            "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene."
        },
        {
            "id": "MONDO:0014269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014269",
            "name": "LYRM4 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014269",
            "name": "combined oxidative phosphorylation deficiency 19",
            "description": ""
        },
        {
            "id": "MONDO:0014269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014269",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in LYRM4",
            "description": ""
        },
        {
            "id": "MONDO:0014269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014269",
            "name": "combined oxidative phosphorylation deficiency type 19",
            "description": ""
        },
        {
            "id": "MONDO:0014269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014269",
            "name": "COXPD19",
            "description": ""
        },
        {
            "id": "MIM:615595",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615595",
            "name": "Combined oxidative phosphorylation deficiency 19",
            "description": "Combined oxidative phosphorylation deficiency 19"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111476"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111476",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111476",
            "categories": []
        },
        {
            "id": "MONDO:0014269",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014269",
            "categories": []
        },
        {
            "id": "MIM:615595",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615595",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8JLQ0-1",
            "uniprot_ac": "B8JLQ0",
            "uniprot_id": "LYRM4_DANRE",
            "refseq_ac": "NP_001157713",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "LYR motif-containing protein 4",
                    "type": "recommended"
                },
                {
                    "name": "LYR motif-containing protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lyrm4",
                    "type": "recommended"
                },
                {
                    "name": "isd11",
                    "type": "synonym"
                },
                {
                    "name": "lyrm4a",
                    "type": "synonym"
                },
                {
                    "name": "lyrm4",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-86n6.2",
                    "type": "synonym"
                }
            ],
            "record_id": "B8JLQ0-1",
            "evidence": [
                {
                    "id": "0111476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K215-1",
            "uniprot_ac": "Q8K215",
            "uniprot_id": "LYRM4_MOUSE",
            "refseq_ac": "NP_958746",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "LYR motif-containing protein 4",
                    "type": "recommended"
                },
                {
                    "name": "LYR motif-containing protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lyrm4",
                    "type": "recommended"
                },
                {
                    "name": "Gm903",
                    "type": "synonym"
                },
                {
                    "name": "Isd11",
                    "type": "synonym"
                },
                {
                    "name": "Lyrm4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K215-1",
            "evidence": [
                {
                    "id": "0111476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HD34-1",
            "uniprot_ac": "Q9HD34",
            "uniprot_id": "LYRM4_HUMAN",
            "refseq_ac": "NP_065141",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "LYR motif-containing protein 4",
                    "type": "recommended"
                },
                {
                    "name": "LYR motif-containing protein 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "homolog of yeast Isd11",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial matrix Nfs1 interacting protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LYRM4",
                    "type": "recommended"
                },
                {
                    "name": "C6orf149",
                    "type": "synonym"
                },
                {
                    "name": "CGI-203",
                    "type": "synonym"
                },
                {
                    "name": "COXPD19",
                    "type": "synonym"
                },
                {
                    "name": "ISD11",
                    "type": "synonym"
                },
                {
                    "name": "LYRM4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HD34-1",
            "evidence": [
                {
                    "id": "615595",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615595"
                },
                {
                    "id": "0111476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6Q560-1",
            "uniprot_ac": "Q6Q560",
            "uniprot_id": "ISD11_YEAST",
            "refseq_ac": "NP_010968",
            "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": "Protein ISD11",
                    "type": "recommended"
                },
                {
                    "name": "Iron-sulfur protein biogenesis, desulfurase-interacting protein 11",
                    "type": "synonym"
                },
                {
                    "name": "Isd11p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ISD11",
                    "type": "recommended"
                },
                {
                    "name": "ISD11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6Q560-1",
            "evidence": [
                {
                    "id": "0111476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZYM7-1",
            "uniprot_ac": "D3ZYM7",
            "uniprot_id": "D3ZYM7_RAT",
            "refseq_ac": "NP_001387837",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "LYR motif containing 4",
                    "type": "synonym"
                },
                {
                    "name": "LYR motif-containing protein 4-like",
                    "type": "synonym"
                },
                {
                    "name": "LYR motif-containing protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lyrm4",
                    "type": "recommended"
                },
                {
                    "name": "LOC102550385",
                    "type": "synonym"
                },
                {
                    "name": "Lyrm4",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZYM7-1",
            "evidence": [
                {
                    "id": "0111476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O46098-1",
            "uniprot_ac": "O46098",
            "uniprot_id": "LYRM4_DROME",
            "refseq_ac": "NP_477059",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "LYR motif-containing protein 4 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG3717-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein bcn92",
                    "type": "synonym"
                },
                {
                    "name": "bcn92-PA",
                    "type": "synonym"
                },
                {
                    "name": "bcn92",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bcn92",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RE57896",
                    "type": "synonym"
                },
                {
                    "name": "Bcn92",
                    "type": "synonym"
                },
                {
                    "name": "CG3717",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3717",
                    "type": "synonym"
                },
                {
                    "name": "EG:87B1.6",
                    "type": "synonym"
                },
                {
                    "name": "Isd11",
                    "type": "synonym"
                },
                {
                    "name": "NEST:bs15a04",
                    "type": "synonym"
                },
                {
                    "name": "bcn92",
                    "type": "synonym"
                }
            ],
            "record_id": "O46098-1",
            "evidence": [
                {
                    "id": "0111476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111476"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111476"
}