{
    "disease_id": "DOID:0111442",
    "recommended_name": {
        "id": "DOID:0111442",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111442",
        "name": "optic atrophy 9",
        "description": "An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111442",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111442",
            "name": "OPA9",
            "description": ""
        },
        {
            "id": "MONDO:0014571",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014571",
            "name": "optic atrophy 9",
            "description": ""
        },
        {
            "id": "MONDO:0014571",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014571",
            "name": "ACO2 autosomal recessive isolated optic atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0014571",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014571",
            "name": "autosomal recessive isolated optic atrophy caused by mutation in ACO2",
            "description": ""
        },
        {
            "id": "MONDO:0014571",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014571",
            "name": "optic atrophy 9",
            "description": ""
        },
        {
            "id": "MONDO:0014571",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014571",
            "name": "OPA9",
            "description": ""
        },
        {
            "id": "MIM:616289",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616289",
            "name": "Optic atrophy 9",
            "description": "Optic atrophy 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111442"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111442",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111442",
            "categories": []
        },
        {
            "id": "MONDO:0014571",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014571",
            "categories": []
        },
        {
            "id": "MIM:616289",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616289",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99KI0-1",
            "uniprot_ac": "Q99KI0",
            "uniprot_id": "ACON_MOUSE",
            "refseq_ac": "NP_542364",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aconitate hydratase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Aconitase",
                    "type": "synonym"
                },
                {
                    "name": "Citrate hydro-lyase",
                    "type": "synonym"
                },
                {
                    "name": "aconitate hydratase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "aconitate hydratase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "citrate hydro-lyase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aco2",
                    "type": "recommended"
                },
                {
                    "name": "Aco-2",
                    "type": "synonym"
                },
                {
                    "name": "Aco2",
                    "type": "synonym"
                },
                {
                    "name": "Aco3",
                    "type": "synonym"
                },
                {
                    "name": "D10Wsu183e",
                    "type": "synonym"
                },
                {
                    "name": "Irp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99KI0-1",
            "evidence": [
                {
                    "id": "0111442",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111442"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99798-1",
            "uniprot_ac": "Q99798",
            "uniprot_id": "ACON_HUMAN",
            "refseq_ac": "NP_001089",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aconitate hydratase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Aconitase",
                    "type": "synonym"
                },
                {
                    "name": "Citrate hydro-lyase",
                    "type": "synonym"
                },
                {
                    "name": "aconitase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "aconitate hydratase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "aconitate hydratase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "citrate hydro-lyase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein Li 284",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial aconitase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACO2",
                    "type": "recommended"
                },
                {
                    "name": "ACO2",
                    "type": "synonym"
                },
                {
                    "name": "ACONM",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-284",
                    "type": "synonym"
                },
                {
                    "name": "ICRD",
                    "type": "synonym"
                },
                {
                    "name": "OCA8",
                    "type": "synonym"
                },
                {
                    "name": "OPA9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99798-1",
            "evidence": [
                {
                    "id": "616289",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616289"
                },
                {
                    "id": "0111442",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111442"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19414-1",
            "uniprot_ac": "P19414",
            "uniprot_id": "ACON_YEAST",
            "refseq_ac": "NP_013407",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aconitate hydratase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Aconitase",
                    "type": "synonym"
                },
                {
                    "name": "Citrate hydro-lyase",
                    "type": "synonym"
                },
                {
                    "name": "aconitate hydratase ACO1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACO1",
                    "type": "recommended"
                },
                {
                    "name": "ACO1",
                    "type": "synonym"
                },
                {
                    "name": "GLU1",
                    "type": "synonym"
                },
                {
                    "name": "L8003.22",
                    "type": "synonym"
                }
            ],
            "record_id": "P19414-1",
            "evidence": [
                {
                    "id": "0111442",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111442"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ER34-1",
            "uniprot_ac": "Q9ER34",
            "uniprot_id": "ACON_RAT",
            "refseq_ac": "NP_077374",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aconitate hydratase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Aconitase",
                    "type": "synonym"
                },
                {
                    "name": "Citrate hydro-lyase",
                    "type": "synonym"
                },
                {
                    "name": "aconitase 2, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "aconitate hydratase, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "aconitate hydratase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "citrate hydro-lyase",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial aconitase (nuclear aco2 gene)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aco2",
                    "type": "recommended"
                },
                {
                    "name": "Aco2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ER34-1",
            "evidence": [
                {
                    "id": "0111442",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111442"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VIE8-1",
            "uniprot_ac": "Q9VIE8",
            "uniprot_id": "Q9VIE8_DROME",
            "refseq_ac": "NP_001097186",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aconitate hydratase, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "4.2.1.3",
                    "type": "synonym"
                },
                {
                    "name": "ACONITASE",
                    "type": "synonym"
                },
                {
                    "name": "Aconitase",
                    "type": "synonym"
                },
                {
                    "name": "CG9244-PE",
                    "type": "synonym"
                },
                {
                    "name": "m-aconitase",
                    "type": "synonym"
                },
                {
                    "name": "mAcon1-PE",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial aconitase 1, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial aconitase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mAcon1",
                    "type": "recommended"
                },
                {
                    "name": "ACON-1",
                    "type": "synonym"
                },
                {
                    "name": "AconM",
                    "type": "synonym"
                },
                {
                    "name": "Acon",
                    "type": "synonym"
                },
                {
                    "name": "BEST:GH10550",
                    "type": "synonym"
                },
                {
                    "name": "CG9244",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9244",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9244",
                    "type": "synonym"
                },
                {
                    "name": "M-Acon",
                    "type": "synonym"
                },
                {
                    "name": "aconitase",
                    "type": "synonym"
                },
                {
                    "name": "acon",
                    "type": "synonym"
                },
                {
                    "name": "hsp60",
                    "type": "synonym"
                },
                {
                    "name": "i204",
                    "type": "synonym"
                },
                {
                    "name": "i59",
                    "type": "synonym"
                },
                {
                    "name": "l(2)07054",
                    "type": "synonym"
                },
                {
                    "name": "m-Acon",
                    "type": "synonym"
                },
                {
                    "name": "m-acon",
                    "type": "synonym"
                },
                {
                    "name": "mACON",
                    "type": "synonym"
                },
                {
                    "name": "mAcon1",
                    "type": "synonym"
                },
                {
                    "name": "mAcon",
                    "type": "synonym"
                },
                {
                    "name": "mAc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VIE8-1",
            "evidence": [
                {
                    "id": "0111442",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111442"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111442"
}