{
    "disease_id": "DOID:0111434",
    "recommended_name": {
        "id": "DOID:0111434",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111434",
        "name": "optic atrophy 10",
        "description": "An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21."
    },
    "synonyms": [
        {
            "id": "DOID:0111434",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111434",
            "name": "optic atrophy 10 with or without ataxia, mental retardation, and seizures",
            "description": ""
        },
        {
            "id": "DOID:0111434",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111434",
            "name": "OPA10",
            "description": ""
        },
        {
            "id": "MONDO:0020737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020737",
            "name": "optic atrophy 10 with or without ataxia, intellectual disability, and seizures",
            "description": "An optic atrophy caused by a variation in the RTN4IP1; the optic atrophy can be associated with neurological involvement, including intellectual disability, ataxia, seizures."
        },
        {
            "id": "MONDO:0020737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020737",
            "name": "OPA10",
            "description": ""
        },
        {
            "id": "MONDO:0020737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020737",
            "name": "RTN4IP1-optic atrophy 10 with or without ataxia, impaired intellectual development and seizures",
            "description": ""
        },
        {
            "id": "MONDO:0020737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020737",
            "name": "RTN4IP1-related optic atrophy with or without neurological features",
            "description": ""
        },
        {
            "id": "MONDO:0020737",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020737",
            "name": "optic atrophy 10 with or without ataxia, mental retardation, and seizures",
            "description": ""
        },
        {
            "id": "MIM:616732",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616732",
            "name": "Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures",
            "description": "Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111434"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111434",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111434",
            "categories": []
        },
        {
            "id": "MONDO:0020737",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020737",
            "categories": []
        },
        {
            "id": "MIM:616732",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616732",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7T3C7-1",
            "uniprot_ac": "Q7T3C7",
            "uniprot_id": "RT4I1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "NAD(P)H oxidoreductase RTN4IP1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Reticulon-4-interacting protein 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rtn4ip1",
                    "type": "recommended"
                }
            ],
            "record_id": "Q7T3C7-1",
            "evidence": [
                {
                    "id": "0111434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q924D0-1",
            "uniprot_ac": "Q924D0",
            "uniprot_id": "RT4I1_MOUSE",
            "refseq_ac": "NP_570962",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "NAD(P)H oxidoreductase RTN4IP1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "NAD(P)H oxidoreductase RTN4IP1, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "NAD(P)H oxidoreductase RTN4IP1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NOGO-interacting mitochondrial protein",
                    "type": "synonym"
                },
                {
                    "name": "Reticulon-4-interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "reticulon-4-interacting protein 1, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rtn4ip1",
                    "type": "recommended"
                },
                {
                    "name": "D10Ertd690e",
                    "type": "synonym"
                },
                {
                    "name": "NIMP",
                    "type": "synonym"
                },
                {
                    "name": "Nimp",
                    "type": "synonym"
                },
                {
                    "name": "Rtn4ip1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q924D0-1",
            "evidence": [
                {
                    "id": "0111434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WWV3-1",
            "uniprot_ac": "Q8WWV3",
            "uniprot_id": "RT4I1_HUMAN",
            "refseq_ac": "NP_001305675",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NAD(P)H oxidoreductase RTN4IP1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "NAD(P)H oxidoreductase RTN4IP1, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "NAD(P)H oxidoreductase RTN4IP1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "NOGO-interacting mitochondrial protein",
                    "type": "synonym"
                },
                {
                    "name": "Reticulon-4-interacting protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RTN4IP1",
                    "type": "recommended"
                },
                {
                    "name": "NIMP",
                    "type": "synonym"
                },
                {
                    "name": "OPA10",
                    "type": "synonym"
                },
                {
                    "name": "RTN4IP1",
                    "type": "synonym"
                },
                {
                    "name": "Yim1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WWV3-1",
            "evidence": [
                {
                    "id": "616732",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616732"
                },
                {
                    "id": "0111434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28625-1",
            "uniprot_ac": "P28625",
            "uniprot_id": "YIM1_YEAST",
            "refseq_ac": "NP_013872",
            "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 YIM1",
                    "type": "recommended"
                },
                {
                    "name": "Yim1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YIM1",
                    "type": "recommended"
                },
                {
                    "name": "YIM1",
                    "type": "synonym"
                },
                {
                    "name": "YM8520.01",
                    "type": "synonym"
                },
                {
                    "name": "YM9375.22",
                    "type": "synonym"
                }
            ],
            "record_id": "P28625-1",
            "evidence": [
                {
                    "id": "0111434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LH61-1",
            "uniprot_ac": "A0ABK0LH61",
            "uniprot_id": "A0ABK0LH61_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NAD(P)H oxidoreductase RTN4IP1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "NOGO-interacting mitochondrial protein",
                    "type": "synonym"
                },
                {
                    "name": "Reticulon-4-interacting protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rtn4ip1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LH61-1",
            "evidence": [
                {
                    "id": "0111434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IPZ3-1",
            "uniprot_ac": "Q8IPZ3",
            "uniprot_id": "RT4I1_DROME",
            "refseq_ac": "NP_722873",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "NAD(P)H oxidoreductase RTN4IP1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "CG17221-PB",
                    "type": "synonym"
                },
                {
                    "name": "Reticulon-4-interacting protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "dRtn4ip1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rtn4ip1",
                    "type": "recommended"
                },
                {
                    "name": "CG17221",
                    "type": "synonym"
                },
                {
                    "name": "DM_7295851",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17221",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IPZ3-1",
            "evidence": [
                {
                    "id": "0111434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111434"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111434"
}