{
    "disease_id": "DOID:0080117",
    "recommended_name": {
        "id": "DOID:0080117",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080117",
        "name": "mitochondrial complex III deficiency nuclear type 8",
        "description": "A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0014364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014364",
            "name": "mitochondrial complex III deficiency nuclear type 8",
            "description": "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene."
        },
        {
            "id": "MONDO:0014364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014364",
            "name": "LYRM7 mitochondrial complex III deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014364",
            "name": "mitochondrial complex III deficiency caused by mutation in LYRM7",
            "description": ""
        },
        {
            "id": "MONDO:0014364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014364",
            "name": "mitochondrial complex III deficiency nuclear type 8",
            "description": ""
        },
        {
            "id": "MONDO:0014364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014364",
            "name": "MC3DN8",
            "description": ""
        },
        {
            "id": "MONDO:0014364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014364",
            "name": "mitochondrial complex III deficiency, nuclear type 8",
            "description": ""
        },
        {
            "id": "MIM:615838",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615838",
            "name": "Mitochondrial complex III deficiency, nuclear type 8",
            "description": "Mitochondrial complex III deficiency, nuclear type 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080117"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080117",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080117",
            "categories": []
        },
        {
            "id": "MONDO:0014364",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014364",
            "categories": []
        },
        {
            "id": "MIM:615838",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615838",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A5PLG0-1",
            "uniprot_ac": "A5PLG0",
            "uniprot_id": "LYRM7_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": "Complex III assembly factor LYRM7",
                    "type": "recommended"
                },
                {
                    "name": "LYR motif-containing protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LYRM7",
                    "type": "recommended"
                },
                {
                    "name": "MZM1L",
                    "type": "synonym"
                },
                {
                    "name": "zgc:165597",
                    "type": "synonym"
                }
            ],
            "record_id": "A5PLG0-1",
            "evidence": [
                {
                    "id": "0080117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DA03-1",
            "uniprot_ac": "Q9DA03",
            "uniprot_id": "LYRM7_MOUSE",
            "refseq_ac": "NP_083603",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complex III assembly factor LYRM7",
                    "type": "recommended"
                },
                {
                    "name": "LYR motif-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "complex III assembly factor LYRM7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "complex III assembly factor LYRM7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lyrm7",
                    "type": "recommended"
                },
                {
                    "name": "1700024C24Rik",
                    "type": "synonym"
                },
                {
                    "name": "9330147L21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lyrm7",
                    "type": "synonym"
                },
                {
                    "name": "MZM1L",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DA03-1",
            "evidence": [
                {
                    "id": "0080117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U5X0-1",
            "uniprot_ac": "Q5U5X0",
            "uniprot_id": "LYRM7_HUMAN",
            "refseq_ac": "NP_859056",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complex III assembly factor LYRM7",
                    "type": "recommended"
                },
                {
                    "name": "LYR motif-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "Lyrm7 homolog",
                    "type": "synonym"
                },
                {
                    "name": "complex III assembly factor LYRM7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "complex III assembly factor LYRM7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LYRM7",
                    "type": "recommended"
                },
                {
                    "name": "C5orf31",
                    "type": "synonym"
                },
                {
                    "name": "LYRM7",
                    "type": "synonym"
                },
                {
                    "name": "MC3DN8",
                    "type": "synonym"
                },
                {
                    "name": "MZM1L",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U5X0-1",
            "evidence": [
                {
                    "id": "615838",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615838"
                },
                {
                    "id": "0080117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03429-1",
            "uniprot_ac": "Q03429",
            "uniprot_id": "MZM1_YEAST",
            "refseq_ac": "NP_010781",
            "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": "Mitochondrial zinc maintenance protein 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Altered inheritance of mitochondria protein 8",
                    "type": "synonym"
                },
                {
                    "name": "Found in mitochondrial proteome protein 36",
                    "type": "synonym"
                },
                {
                    "name": "Mzm1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MZM1",
                    "type": "recommended"
                },
                {
                    "name": "AIM8",
                    "type": "synonym"
                },
                {
                    "name": "FMP36",
                    "type": "synonym"
                },
                {
                    "name": "MZM1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03429-1",
            "evidence": [
                {
                    "id": "0080117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B4F7A1-1",
            "uniprot_ac": "B4F7A1",
            "uniprot_id": "LYRM7_RAT",
            "refseq_ac": "NP_001128201",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complex III assembly factor LYRM7",
                    "type": "recommended"
                },
                {
                    "name": "LYR motif-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "complex III assembly factor LYRM7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lyrm7",
                    "type": "recommended"
                },
                {
                    "name": "Lyrm7",
                    "type": "synonym"
                },
                {
                    "name": "MZM1L",
                    "type": "synonym"
                }
            ],
            "record_id": "B4F7A1-1",
            "evidence": [
                {
                    "id": "0080117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080117"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0KI15-1",
            "uniprot_ac": "Q0KI15",
            "uniprot_id": "Q0KI15_DROME",
            "refseq_ac": "NP_001036756",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Complex III assembly factor LYRM7",
                    "type": "recommended"
                },
                {
                    "name": "CG34150-PB",
                    "type": "synonym"
                },
                {
                    "name": "LYR motif-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG34150",
                    "type": "recommended"
                },
                {
                    "name": "CG34150",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34150",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34150",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0KI15-1",
            "evidence": [
                {
                    "id": "0080117",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080117"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080117"
}