{
    "disease_id": "DOID:0060203",
    "recommended_name": {
        "id": "DOID:0060203",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060203",
        "name": "amyotrophic lateral sclerosis type 12",
        "description": "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10."
    },
    "synonyms": [
        {
            "id": "DOID:0060203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060203",
            "name": "ALS12",
            "description": ""
        },
        {
            "id": "DOID:0060203",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060203",
            "name": "amyotrophic lateral sclerosis 12",
            "description": ""
        },
        {
            "id": "MONDO:0013264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013264",
            "name": "amyotrophic lateral sclerosis type 12",
            "description": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene."
        },
        {
            "id": "MONDO:0013264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013264",
            "name": "ALS12",
            "description": ""
        },
        {
            "id": "MONDO:0013264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013264",
            "name": "OPTN amyotrophic lateral sclerosis",
            "description": ""
        },
        {
            "id": "MONDO:0013264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013264",
            "name": "amyotrophic lateral sclerosis 12",
            "description": ""
        },
        {
            "id": "MONDO:0013264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013264",
            "name": "amyotrophic lateral sclerosis 12 with or without frontotemporal dementia",
            "description": ""
        },
        {
            "id": "MONDO:0013264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013264",
            "name": "amyotrophic lateral sclerosis caused by mutation in OPTN",
            "description": ""
        },
        {
            "id": "MONDO:0013264",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013264",
            "name": "amyotrophic lateral sclerosis type 12",
            "description": ""
        },
        {
            "id": "MIM:613435",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613435",
            "name": "Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia",
            "description": "Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060203"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060203",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060203",
            "categories": []
        },
        {
            "id": "MONDO:0013264",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013264",
            "categories": []
        },
        {
            "id": "MIM:613435",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613435",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5RI56-1",
            "uniprot_ac": "Q5RI56",
            "uniprot_id": "OPTN_DANRE",
            "refseq_ac": "NP_001093536",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Optineurin",
                    "type": "recommended"
                },
                {
                    "name": "optineurin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "optn",
                    "type": "recommended"
                },
                {
                    "name": "optn",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-240l19.3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj52f04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66386",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77868",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RI56-1",
            "evidence": [
                {
                    "id": "0060203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K3K8-1",
            "uniprot_ac": "Q8K3K8",
            "uniprot_id": "OPTN_MOUSE",
            "refseq_ac": "NP_862896",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Optineurin",
                    "type": "recommended"
                },
                {
                    "name": "TFIIIA-INTP",
                    "type": "synonym"
                },
                {
                    "name": "optineurin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Optn",
                    "type": "recommended"
                },
                {
                    "name": "4930441O07Rik",
                    "type": "synonym"
                },
                {
                    "name": "FIP2",
                    "type": "synonym"
                },
                {
                    "name": "HYPL",
                    "type": "synonym"
                },
                {
                    "name": "NRP",
                    "type": "synonym"
                },
                {
                    "name": "Optn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K3K8-1",
            "evidence": [
                {
                    "id": "0060203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96CV9-1",
            "uniprot_ac": "Q96CV9",
            "uniprot_id": "OPTN_HUMAN",
            "refseq_ac": "NP_001008212",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Optineurin",
                    "type": "recommended"
                },
                {
                    "name": "E3-14.7K-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "FIP-2",
                    "type": "synonym"
                },
                {
                    "name": "HIP-7",
                    "type": "synonym"
                },
                {
                    "name": "Huntingtin interacting protein L",
                    "type": "synonym"
                },
                {
                    "name": "Huntingtin yeast partner L",
                    "type": "synonym"
                },
                {
                    "name": "Huntingtin-interacting protein 7",
                    "type": "synonym"
                },
                {
                    "name": "Huntingtin-interacting protein L",
                    "type": "synonym"
                },
                {
                    "name": "NEMO-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Optic neuropathy-inducing protein",
                    "type": "synonym"
                },
                {
                    "name": "TFIIIA-IntP",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor IIIA-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "huntingtin yeast partner L",
                    "type": "synonym"
                },
                {
                    "name": "huntingtin-interacting protein 7",
                    "type": "synonym"
                },
                {
                    "name": "huntingtin-interacting protein L",
                    "type": "synonym"
                },
                {
                    "name": "nemo-related protein",
                    "type": "synonym"
                },
                {
                    "name": "optic neuropathy-inducing protein",
                    "type": "synonym"
                },
                {
                    "name": "optineurin",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor IIIA-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "transcrption factor IIIA-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "tumor necrosis factor alpha-inducible cellular protein containing leucine zipper domains",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OPTN",
                    "type": "recommended"
                },
                {
                    "name": "ALS12",
                    "type": "synonym"
                },
                {
                    "name": "FIP2",
                    "type": "synonym"
                },
                {
                    "name": "GLC1E",
                    "type": "synonym"
                },
                {
                    "name": "HIP7",
                    "type": "synonym"
                },
                {
                    "name": "HYPL",
                    "type": "synonym"
                },
                {
                    "name": "NRP",
                    "type": "synonym"
                },
                {
                    "name": "OPTN",
                    "type": "synonym"
                },
                {
                    "name": "TFIIIA-INTP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96CV9-1",
            "evidence": [
                {
                    "id": "613435",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613435"
                },
                {
                    "id": "0060203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R5M4-1",
            "uniprot_ac": "Q8R5M4",
            "uniprot_id": "OPTN_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": "Optineurin",
                    "type": "recommended"
                },
                {
                    "name": "FIP-2-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Optn",
                    "type": "recommended"
                }
            ],
            "record_id": "Q8R5M4-1",
            "evidence": [
                {
                    "id": "0060203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060203"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9GYV5-1",
            "uniprot_ac": "Q9GYV5",
            "uniprot_id": "NEMO_DROME",
            "refseq_ac": "NP_523856",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "NF-kappa-B essential modulator",
                    "type": "recommended"
                },
                {
                    "name": "CG16910-PA",
                    "type": "synonym"
                },
                {
                    "name": "DmIKKgamma",
                    "type": "synonym"
                },
                {
                    "name": "Inhibitor of nuclear factor kappa B kinase subunit gamma",
                    "type": "synonym"
                },
                {
                    "name": "NEMO homolog",
                    "type": "synonym"
                },
                {
                    "name": "kenney",
                    "type": "synonym"
                },
                {
                    "name": "kenny, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "kenny",
                    "type": "synonym"
                },
                {
                    "name": "key-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "key",
                    "type": "recommended"
                },
                {
                    "name": "CG16910",
                    "type": "synonym"
                },
                {
                    "name": "DmIKK-gamma",
                    "type": "synonym"
                },
                {
                    "name": "DmIKKgamma",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG16910",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG16910",
                    "type": "synonym"
                },
                {
                    "name": "Dmikkgamma",
                    "type": "synonym"
                },
                {
                    "name": "IKK-gamma",
                    "type": "synonym"
                },
                {
                    "name": "IKKGAMMA",
                    "type": "synonym"
                },
                {
                    "name": "IKKG",
                    "type": "synonym"
                },
                {
                    "name": "IKK[[gamma]]",
                    "type": "synonym"
                },
                {
                    "name": "IKKgamma",
                    "type": "synonym"
                },
                {
                    "name": "IKKg",
                    "type": "synonym"
                },
                {
                    "name": "IKK",
                    "type": "synonym"
                },
                {
                    "name": "Ikkgammabeta",
                    "type": "synonym"
                },
                {
                    "name": "KEY",
                    "type": "synonym"
                },
                {
                    "name": "Kenny",
                    "type": "synonym"
                },
                {
                    "name": "Key",
                    "type": "synonym"
                },
                {
                    "name": "dIKK-gamma",
                    "type": "synonym"
                },
                {
                    "name": "dIKKgamma",
                    "type": "synonym"
                },
                {
                    "name": "dIKK",
                    "type": "synonym"
                },
                {
                    "name": "dmIKKgamma",
                    "type": "synonym"
                },
                {
                    "name": "key",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9GYV5-1",
            "evidence": [
                {
                    "id": "0060203",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060203"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060203"
}