{
    "disease_id": "DOID:0111481",
    "recommended_name": {
        "id": "DOID:0111481",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111481",
        "name": "combined oxidative phosphorylation deficiency 11",
        "description": "A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111481",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111481",
            "name": "infantile encephaloneuromyopathy due to mitochondrial translation defect",
            "description": ""
        },
        {
            "id": "DOID:0111481",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111481",
            "name": "COXPD11",
            "description": ""
        },
        {
            "id": "MONDO:0013969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013969",
            "name": "combined oxidative phosphorylation defect type 11",
            "description": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the RMND1 gene."
        },
        {
            "id": "MONDO:0013969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013969",
            "name": "COXPD11",
            "description": ""
        },
        {
            "id": "MONDO:0013969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013969",
            "name": "RMND1 combined oxidative phosphorylation deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013969",
            "name": "combined oxidative phosphorylation defect type 11",
            "description": ""
        },
        {
            "id": "MONDO:0013969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013969",
            "name": "combined oxidative phosphorylation deficiency caused by mutation in RMND1",
            "description": ""
        },
        {
            "id": "MONDO:0013969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013969",
            "name": "combined oxidative phosphorylation deficiency type 11",
            "description": ""
        },
        {
            "id": "MONDO:0013969",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013969",
            "name": "combined oxidative phosphorylation deficiency 11",
            "description": ""
        },
        {
            "id": "MIM:614922",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614922",
            "name": "Combined oxidative phosphorylation deficiency 11",
            "description": "Combined oxidative phosphorylation deficiency 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111481"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111481",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111481",
            "categories": []
        },
        {
            "id": "MONDO:0013969",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013969",
            "categories": []
        },
        {
            "id": "MIM:614922",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614922",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9P054-1",
            "uniprot_ac": "A0A8M9P054",
            "uniprot_id": "A0A8M9P054_DANRE",
            "refseq_ac": "XP_021322842",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Required for meiotic nuclear division protein 1 homolog isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "required for meiotic nuclear division protein 1 homolog isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rmnd1",
                    "type": "recommended"
                },
                {
                    "name": "rmnd1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113022",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P054-1",
            "evidence": [
                {
                    "id": "0111481",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111481"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CI78-1",
            "uniprot_ac": "Q8CI78",
            "uniprot_id": "RMND1_MOUSE",
            "refseq_ac": "NP_079619",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Required for meiotic nuclear division protein 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "required for meiotic nuclear division protein 1 homolog isoform a",
                    "type": "synonym"
                },
                {
                    "name": "required for meiotic nuclear division protein 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rmnd1",
                    "type": "recommended"
                },
                {
                    "name": "0610042C05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Rmnd1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CI78-1",
            "evidence": [
                {
                    "id": "0111481",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111481"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NWS8-1",
            "uniprot_ac": "Q9NWS8",
            "uniprot_id": "RMND1_HUMAN",
            "refseq_ac": "NP_060379",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Required for meiotic nuclear division protein 1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "required for meiotic nuclear division protein 1 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "required for meiotic nuclear division protein 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RMND1",
                    "type": "recommended"
                },
                {
                    "name": "C6orf96",
                    "type": "synonym"
                },
                {
                    "name": "COXPD11",
                    "type": "synonym"
                },
                {
                    "name": "RMD1",
                    "type": "synonym"
                },
                {
                    "name": "RMND1",
                    "type": "synonym"
                },
                {
                    "name": "bA351K16.3",
                    "type": "synonym"
                },
                {
                    "name": "bA351K16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NWS8-1",
            "evidence": [
                {
                    "id": "614922",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614922"
                },
                {
                    "id": "0111481",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111481"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05648-1",
            "uniprot_ac": "Q05648",
            "uniprot_id": "MRX10_YEAST",
            "refseq_ac": "NP_010568",
            "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": "MIOREX complex component 10",
                    "type": "recommended"
                },
                {
                    "name": "Mitochondrial organization of gene expression protein 10",
                    "type": "synonym"
                },
                {
                    "name": "Mrx10p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MRX10",
                    "type": "recommended"
                },
                {
                    "name": "MRX10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05648-1",
            "evidence": [
                {
                    "id": "0111481",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111481"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E9PU34-1",
            "uniprot_ac": "E9PU34",
            "uniprot_id": "E9PU34_RAT",
            "refseq_ac": "NP_001035217",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Required for meiotic nuclear division 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "implantation-associated gene-1",
                    "type": "synonym"
                },
                {
                    "name": "required for meiotic nuclear division protein 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rmnd1",
                    "type": "recommended"
                },
                {
                    "name": "Iag-1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309546",
                    "type": "synonym"
                },
                {
                    "name": "Rmnd1",
                    "type": "synonym"
                }
            ],
            "record_id": "E9PU34-1",
            "evidence": [
                {
                    "id": "0111481",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111481"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VXQ8-1",
            "uniprot_ac": "Q9VXQ8",
            "uniprot_id": "Q9VXQ8_DROME",
            "refseq_ac": "NP_573063",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DUF155 domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG11679-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG11679",
                    "type": "recommended"
                },
                {
                    "name": "CG11679",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11679",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11679",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VXQ8-1",
            "evidence": [
                {
                    "id": "0111481",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111481"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111481"
}