{
    "disease_id": "DOID:0111180",
    "recommended_name": {
        "id": "DOID:0111180",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111180",
        "name": "French Canadian Leigh disease",
        "description": "A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21."
    },
    "synonyms": [
        {
            "id": "DOID:0111180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111180",
            "name": "French Canadian type COX deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111180",
            "name": "French Canadian type Leigh syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111180",
            "name": "Saguenay Lac saint Jean type COX deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111180",
            "name": "Saguenay Lac saint Jean type Leigh syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111180",
            "name": "French Canadian type cytochrome c oxidase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111180",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111180",
            "name": "mitochondrial complex IV deficiency nuclear type 5",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type",
            "description": "Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome, is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development."
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "COX deficiency, French-Canadian type",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "Leigh syndrome, French-Canadian type",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "Leigh syndrome, Saguenay-Lac-Saint-Jean type",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "SLSJ-COX deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "congenital lactic acidosis, Saguenay-Lac-Saint-Jean type",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "cytochrome C oxidase deficiency, French-Canadian type",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian)",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "Cox deficiency, Saguenay Lac saint Jean type",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "LSFC",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "Leigh syndrome, French Canadian type",
            "description": ""
        },
        {
            "id": "MONDO:0009069",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "name": "Leigh syndrome, Saguenay Lac saint Jean type",
            "description": ""
        },
        {
            "id": "MIM:220111",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/220111",
            "name": "Mitochondrial complex IV deficiency, nuclear type 5",
            "description": "Mitochondrial complex IV deficiency, nuclear type 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111180"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111180",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111180",
            "categories": []
        },
        {
            "id": "MONDO:0009069",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009069",
            "categories": []
        },
        {
            "id": "MIM:220111",
            "database": "MIM",
            "url": "https://www.omim.org/entry/220111",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N1TT16-1",
            "uniprot_ac": "A0A8N1TT16",
            "uniprot_id": "A0A8N1TT16_DANRE",
            "refseq_ac": "NP_001136064",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich PPR motif-containing protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich PPR motif-containing protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich PPR-motif containing",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lrpprc",
                    "type": "recommended"
                },
                {
                    "name": "fc13c04",
                    "type": "synonym"
                },
                {
                    "name": "im:7150924",
                    "type": "synonym"
                },
                {
                    "name": "im:7151572",
                    "type": "synonym"
                },
                {
                    "name": "lrpprc",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc13c04",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj38h02",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N1TT16-1",
            "evidence": [
                {
                    "id": "0111180",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111180"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PB66-1",
            "uniprot_ac": "Q6PB66",
            "uniprot_id": "LPPRC_MOUSE",
            "refseq_ac": "NP_082509",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich PPR motif-containing protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "130 kDa leucine-rich protein",
                    "type": "synonym"
                },
                {
                    "name": "LRP 130",
                    "type": "synonym"
                },
                {
                    "name": "leucine rich protein LRP130",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich PPR motif-containing protein, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich PPR motif-containing protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "mLRP130",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrpprc",
                    "type": "recommended"
                },
                {
                    "name": "3110001K13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gp130",
                    "type": "synonym"
                },
                {
                    "name": "Lrp130",
                    "type": "synonym"
                },
                {
                    "name": "Lrpprc",
                    "type": "synonym"
                },
                {
                    "name": "Lsfc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PB66-1",
            "evidence": [
                {
                    "id": "0111180",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111180"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P42704-1",
            "uniprot_ac": "P42704",
            "uniprot_id": "LPPRC_HUMAN",
            "refseq_ac": "NP_573566",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich PPR motif-containing protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "130 kDa leucine-rich protein",
                    "type": "synonym"
                },
                {
                    "name": "GP130",
                    "type": "synonym"
                },
                {
                    "name": "LRP 130",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich PPR motif-containing protein, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich PPR motif-containing protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich PPR-motif containing",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial leucine-rich PPR motif-containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LRPPRC",
                    "type": "recommended"
                },
                {
                    "name": "CLONE-23970",
                    "type": "synonym"
                },
                {
                    "name": "GP130",
                    "type": "synonym"
                },
                {
                    "name": "LRP130",
                    "type": "synonym"
                },
                {
                    "name": "LRPPRC",
                    "type": "synonym"
                },
                {
                    "name": "LSFC",
                    "type": "synonym"
                },
                {
                    "name": "MC4DN5",
                    "type": "synonym"
                }
            ],
            "record_id": "P42704-1",
            "evidence": [
                {
                    "id": "220111",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/220111"
                },
                {
                    "id": "0111180",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111180"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5SGE0-1",
            "uniprot_ac": "Q5SGE0",
            "uniprot_id": "LPPRC_RAT",
            "refseq_ac": "NP_001008519",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich PPR motif-containing protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "130 kDa leucine-rich protein",
                    "type": "synonym"
                },
                {
                    "name": "LRP 130",
                    "type": "synonym"
                },
                {
                    "name": "Leucine rich protein 157",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich PPR motif-containing protein, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich PPR motif-containing protein, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich PPR-motif containing",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich protein 157",
                    "type": "synonym"
                },
                {
                    "name": "rLRP157",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrpprc",
                    "type": "recommended"
                },
                {
                    "name": "Lrp157",
                    "type": "synonym"
                },
                {
                    "name": "Lrpprc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SGE0-1",
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                {
                    "id": "0111180",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111180"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W592-1",
            "uniprot_ac": "Q9W592",
            "uniprot_id": "Q9W592_DROME",
            "refseq_ac": "NP_569913",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG14786-PA",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich pentatricopeptide repeat containing 2",
                    "type": "synonym"
                },
                {
                    "name": "Lrpprc2-PA",
                    "type": "synonym"
                },
                {
                    "name": "pentatricopeptide repeat containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lrpprc2",
                    "type": "recommended"
                },
                {
                    "name": "CG14786",
                    "type": "synonym"
                },
                {
                    "name": "DmLrpprc2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14786",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14786",
                    "type": "synonym"
                },
                {
                    "name": "EG:BACN32G11.3",
                    "type": "synonym"
                },
                {
                    "name": "Lrpprc2",
                    "type": "synonym"
                },
                {
                    "name": "lrpprc2",
                    "type": "synonym"
                },
                {
                    "name": "ppr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W592-1",
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                {
                    "id": "0111180",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111180"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJ86-1",
            "uniprot_ac": "Q9VJ86",
            "uniprot_id": "Q9VJ86_DROME",
            "refseq_ac": "NP_523596",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich PPR motif-containing protein, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "CG10302-PA",
                    "type": "synonym"
                },
                {
                    "name": "bicoid stability factor",
                    "type": "synonym"
                },
                {
                    "name": "bicoid stabilization factor",
                    "type": "synonym"
                },
                {
                    "name": "bsf-PA",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) SH1181",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bsf",
                    "type": "recommended"
                },
                {
                    "name": "BSF",
                    "type": "synonym"
                },
                {
                    "name": "Bsf",
                    "type": "synonym"
                },
                {
                    "name": "CG10302",
                    "type": "synonym"
                },
                {
                    "name": "DmLRPPRC1",
                    "type": "synonym"
                },
                {
                    "name": "DmLrpprc1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10302",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10302",
                    "type": "synonym"
                },
                {
                    "name": "bsf",
                    "type": "synonym"
                },
                {
                    "name": "dmlrpprc1",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH1181",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH2 1181",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VJ86-1",
            "evidence": [
                {
                    "id": "0111180",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111180"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111180"
}