{
    "disease_id": "DOID:0111436",
    "recommended_name": {
        "id": "DOID:0111436",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111436",
        "name": "optic atrophy 11",
        "description": "An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111436",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111436",
            "name": "OPA11",
            "description": ""
        },
        {
            "id": "MONDO:0015011",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015011",
            "name": "optic atrophy 11",
            "description": "Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene."
        },
        {
            "id": "MONDO:0015011",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015011",
            "name": "OPA11",
            "description": ""
        },
        {
            "id": "MONDO:0015011",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015011",
            "name": "YME1L1 autosomal recessive isolated optic atrophy",
            "description": ""
        },
        {
            "id": "MONDO:0015011",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015011",
            "name": "autosomal recessive isolated optic atrophy caused by mutation in YME1L1",
            "description": ""
        },
        {
            "id": "MONDO:0015011",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015011",
            "name": "optic atrophy 11",
            "description": ""
        },
        {
            "id": "MONDO:0015011",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015011",
            "name": "optic atrophy type 11",
            "description": ""
        },
        {
            "id": "MIM:617302",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617302",
            "name": "Optic atrophy 11",
            "description": "Optic atrophy 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111436"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111436",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111436",
            "categories": []
        },
        {
            "id": "MONDO:0015011",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015011",
            "categories": []
        },
        {
            "id": "MIM:617302",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617302",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B5E4-1",
            "uniprot_ac": "A0ACD6B5E4",
            "uniprot_id": "A0ACD6B5E4_DANRE",
            "refseq_ac": "XP_005162918",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent zinc metalloprotease YME1L1",
                    "type": "recommended"
                },
                {
                    "name": "ATP-dependent metalloprotease FtsH1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent zinc metalloprotease YME1L1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "YME1-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "yme1l1a",
                    "type": "recommended"
                },
                {
                    "name": "yme1l1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B5E4-1",
            "evidence": [
                {
                    "id": "0111436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111436"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4IJC7-1",
            "uniprot_ac": "A0A0R4IJC7",
            "uniprot_id": "A0A0R4IJC7_DANRE",
            "refseq_ac": "NP_001317997",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent zinc metalloprotease YME1L1",
                    "type": "recommended"
                },
                {
                    "name": "ATP-dependent metalloprotease FtsH1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent zinc metalloprotease YME1L1b",
                    "type": "synonym"
                },
                {
                    "name": "YME1-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "yme1l1b",
                    "type": "recommended"
                },
                {
                    "name": "ftsh1",
                    "type": "synonym"
                },
                {
                    "name": "yme1l1b",
                    "type": "synonym"
                },
                {
                    "name": "yme1l1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:162158",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IJC7-1",
            "evidence": [
                {
                    "id": "0111436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111436"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88967-1",
            "uniprot_ac": "O88967",
            "uniprot_id": "YMEL1_MOUSE",
            "refseq_ac": "NP_038799",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent zinc metalloprotease YME1L1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "3.6.-.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent metalloprotease FtsH1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent zinc metalloprotease YME1L1",
                    "type": "synonym"
                },
                {
                    "name": "YME1-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Yme1l1",
                    "type": "recommended"
                },
                {
                    "name": "FtsH1",
                    "type": "synonym"
                },
                {
                    "name": "Ftsh",
                    "type": "synonym"
                },
                {
                    "name": "Yme1l1",
                    "type": "synonym"
                }
            ],
            "record_id": "O88967-1",
            "evidence": [
                {
                    "id": "0111436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111436"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96TA2-1",
            "uniprot_ac": "Q96TA2",
            "uniprot_id": "YMEL1_HUMAN",
            "refseq_ac": "NP_001240795",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent zinc metalloprotease YME1L1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "3.6.-.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent metalloprotease FtsH1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent metalloprotease FtsH1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent zinc metalloprotease YME1L1 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent zinc metalloprotease YME1L1",
                    "type": "synonym"
                },
                {
                    "name": "Meg-4",
                    "type": "synonym"
                },
                {
                    "name": "PAMP",
                    "type": "synonym"
                },
                {
                    "name": "Presenilin-associated metalloprotease",
                    "type": "synonym"
                },
                {
                    "name": "YME1-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "meg-4",
                    "type": "synonym"
                },
                {
                    "name": "presenilin-associated metalloprotease",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YME1L1",
                    "type": "recommended"
                },
                {
                    "name": "FTSH1",
                    "type": "synonym"
                },
                {
                    "name": "FTSH",
                    "type": "synonym"
                },
                {
                    "name": "MEG4",
                    "type": "synonym"
                },
                {
                    "name": "OPA11",
                    "type": "synonym"
                },
                {
                    "name": "PAMP",
                    "type": "synonym"
                },
                {
                    "name": "PRO4304",
                    "type": "synonym"
                },
                {
                    "name": "YME1L1",
                    "type": "synonym"
                },
                {
                    "name": "YME1L",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96TA2-1",
            "evidence": [
                {
                    "id": "617302",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617302"
                },
                {
                    "id": "0111436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111436"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32795-1",
            "uniprot_ac": "P32795",
            "uniprot_id": "YME1_YEAST",
            "refseq_ac": "NP_015349",
            "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 inner membrane i-AAA protease supercomplex subunit YME1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "Protein OSD1",
                    "type": "synonym"
                },
                {
                    "name": "Tat-binding homolog 11",
                    "type": "synonym"
                },
                {
                    "name": "Yeast mitochondrial escape protein 1",
                    "type": "synonym"
                },
                {
                    "name": "i-AAA protease YME1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YME1",
                    "type": "recommended"
                },
                {
                    "name": "OSD1",
                    "type": "synonym"
                },
                {
                    "name": "YME1",
                    "type": "synonym"
                },
                {
                    "name": "YP9367.04",
                    "type": "synonym"
                },
                {
                    "name": "YTA11",
                    "type": "synonym"
                }
            ],
            "record_id": "P32795-1",
            "evidence": [
                {
                    "id": "0111436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111436"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q925S8-1",
            "uniprot_ac": "Q925S8",
            "uniprot_id": "YMEL1_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent zinc metalloprotease YME1L1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "3.6.-.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-dependent metalloprotease FtsH1",
                    "type": "synonym"
                },
                {
                    "name": "Meg-4",
                    "type": "synonym"
                },
                {
                    "name": "YME1-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Potec",
                    "type": "recommended"
                },
                {
                    "name": "Yme1l1",
                    "type": "recommended"
                },
                {
                    "name": "Potec",
                    "type": "synonym"
                },
                {
                    "name": "RGD1308454",
                    "type": "synonym"
                },
                {
                    "name": "Yme1l1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q925S8-1",
            "evidence": [
                {
                    "id": "0111436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111436"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F3YDF1-1",
            "uniprot_ac": "F3YDF1",
            "uniprot_id": "YMEL1_DROME",
            "refseq_ac": "NP_001246473",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-dependent zinc metalloprotease YME1L",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "CG3499-PC",
                    "type": "synonym"
                },
                {
                    "name": "YME1 like ATPase, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "YME1-like ATPase",
                    "type": "synonym"
                },
                {
                    "name": "YME1L-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YME1L",
                    "type": "recommended"
                },
                {
                    "name": "CG3499",
                    "type": "synonym"
                },
                {
                    "name": "DmCG3499",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3499",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3499",
                    "type": "synonym"
                },
                {
                    "name": "YME1L",
                    "type": "synonym"
                },
                {
                    "name": "dYME1L1",
                    "type": "synonym"
                },
                {
                    "name": "dYME1L",
                    "type": "synonym"
                }
            ],
            "record_id": "F3YDF1-1",
            "evidence": [
                {
                    "id": "0111436",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111436"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111436"
}