{
    "disease_id": "DOID:0111252",
    "recommended_name": {
        "id": "DOID:0111252",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111252",
        "name": "vestibular schwannomatosis",
        "description": "A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2."
    },
    "synonyms": [
        {
            "id": "DOID:0111252",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111252",
            "name": "ACN",
            "description": ""
        },
        {
            "id": "DOID:0111252",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111252",
            "name": "BANF",
            "description": ""
        },
        {
            "id": "DOID:0111252",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111252",
            "name": "NF2",
            "description": ""
        },
        {
            "id": "DOID:0111252",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111252",
            "name": "bilateral acoustic neurinoma",
            "description": ""
        },
        {
            "id": "DOID:0111252",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111252",
            "name": "bilateral acoustic neurofibromatosis",
            "description": ""
        },
        {
            "id": "DOID:0111252",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111252",
            "name": "bilateral acoustic schwannomas",
            "description": ""
        },
        {
            "id": "DOID:0111252",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111252",
            "name": "central neurofibromatosis",
            "description": ""
        },
        {
            "id": "DOID:0111252",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111252",
            "name": "familial acoustic neuromas",
            "description": ""
        },
        {
            "id": "DOID:0111252",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111252",
            "name": "neurofibromatosis type II",
            "description": ""
        },
        {
            "id": "DOID:0111252",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111252",
            "name": "NF2-related schwannomatosis",
            "description": ""
        },
        {
            "id": "DOID:0111252",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111252",
            "name": "SWN3",
            "description": ""
        },
        {
            "id": "DOID:0111252",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111252",
            "name": "SWNV",
            "description": ""
        },
        {
            "id": "DOID:0111252",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111252",
            "name": "acoustic neurofibromatosis",
            "description": ""
        },
        {
            "id": "DOID:0111252",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111252",
            "name": "neurofibromatosis 2",
            "description": ""
        },
        {
            "id": "DOID:0111252",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111252",
            "name": "schwannomatosis 3",
            "description": ""
        },
        {
            "id": "MONDO:0007039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "name": "NF2-related schwannomatosis",
            "description": "A tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas."
        },
        {
            "id": "MONDO:0007039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "name": "acoustic neurofibromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0007039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "name": "NF2",
            "description": ""
        },
        {
            "id": "MONDO:0007039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "name": "NF2-related schwannomatosis",
            "description": ""
        },
        {
            "id": "MONDO:0007039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "name": "SWNV",
            "description": ""
        },
        {
            "id": "MONDO:0007039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "name": "bilateral acoustic neurofibromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0007039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "name": "central neurofibromatosis",
            "description": ""
        },
        {
            "id": "MONDO:0007039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "name": "full NF2",
            "description": ""
        },
        {
            "id": "MONDO:0007039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "name": "full neurofibromatosis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "name": "neurofibromatosis 2",
            "description": ""
        },
        {
            "id": "MONDO:0007039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "name": "neurofibromatosis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "name": "nonmosaic NF2-related schwannomatosis",
            "description": ""
        },
        {
            "id": "MONDO:0007039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "name": "nonmosaic neurofibromatosis type 2",
            "description": ""
        },
        {
            "id": "MONDO:0007039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "name": "acoustic Schwannomas, bilateral",
            "description": ""
        },
        {
            "id": "MONDO:0007039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "name": "acoustic neurinoma bilateral",
            "description": ""
        },
        {
            "id": "MONDO:0007039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "name": "acoustic neurinoma, bilateral",
            "description": ""
        },
        {
            "id": "MONDO:0007039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "name": "acoustic schwannomas bilateral",
            "description": ""
        },
        {
            "id": "MONDO:0007039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "name": "neurofibromatosis central type",
            "description": ""
        },
        {
            "id": "MONDO:0007039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "name": "neurofibromatosis type II",
            "description": ""
        },
        {
            "id": "MONDO:0007039",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "name": "neurofibromatosis, type II",
            "description": ""
        },
        {
            "id": "MIM:101000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/101000",
            "name": "Schwannomatosis, vestibular",
            "description": "Schwannomatosis, vestibular"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111252"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111252",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111252",
            "categories": []
        },
        {
            "id": "MONDO:0007039",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007039",
            "categories": []
        },
        {
            "id": "MIM:101000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/101000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5U379-1",
            "uniprot_ac": "Q5U379",
            "uniprot_id": "SNF5_DANRE",
            "refseq_ac": "NP_001007297",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1-A",
                    "type": "recommended"
                },
                {
                    "name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1a",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1-A",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "smarcb1a",
                    "type": "recommended"
                },
                {
                    "name": "smarcb1a",
                    "type": "synonym"
                },
                {
                    "name": "smarcb1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92517",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U379-1",
            "evidence": [
                {
                    "id": "0111252",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111252"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BCB8-1",
            "uniprot_ac": "A0A8M2BCB8",
            "uniprot_id": "A0A8M2BCB8_DANRE",
            "refseq_ac": "XP_073806645",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Merlin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "merlin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "nf2a",
                    "type": "recommended"
                },
                {
                    "name": "nf2a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:194620",
                    "type": "synonym"
                },
                {
                    "name": "zgc:194631",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BCB8-1",
            "evidence": [
                {
                    "id": "0111252",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111252"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32TK78-1",
            "uniprot_ac": "A0AB32TK78",
            "uniprot_id": "A0AB32TK78_DANRE",
            "refseq_ac": "XP_068075754",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vascular endothelial growth factor Ab isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "vascular endothelial growth factor Ab isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vegfab",
                    "type": "recommended"
                },
                {
                    "name": "fd42e02",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-14d8.3",
                    "type": "synonym"
                },
                {
                    "name": "vegfab",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd42e02",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TK78-1",
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                {
                    "id": "0111252",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111252"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O73682-1",
            "uniprot_ac": "O73682",
            "uniprot_id": "VGFAA_DANRE",
            "refseq_ac": "NP_001103819",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vascular endothelial growth factor A-A",
                    "type": "recommended"
                },
                {
                    "name": "VEGF-A-A",
                    "type": "synonym"
                },
                {
                    "name": "etID309976.16",
                    "type": "synonym"
                },
                {
                    "name": "vascular endothelial growth factor A-A isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "vascular endothelial growth factor A-A",
                    "type": "synonym"
                },
                {
                    "name": "vegf-a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vegfaa",
                    "type": "recommended"
                },
                {
                    "name": "vegfaa",
                    "type": "synonym"
                },
                {
                    "name": "vegfa",
                    "type": "synonym"
                },
                {
                    "name": "vegf",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj82c06",
                    "type": "synonym"
                }
            ],
            "record_id": "O73682-1",
            "evidence": [
                {
                    "id": "0111252",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111252"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46662-1",
            "uniprot_ac": "P46662",
            "uniprot_id": "MERL_MOUSE",
            "refseq_ac": "NP_001239179",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Merlin",
                    "type": "recommended"
                },
                {
                    "name": "Moesin-ezrin-radixin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Neurofibromin-2",
                    "type": "synonym"
                },
                {
                    "name": "Schwannomin",
                    "type": "synonym"
                },
                {
                    "name": "merlin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "moesin-ezrin-radixin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "neurofibromatosis 2",
                    "type": "synonym"
                },
                {
                    "name": "schwannomin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nf2",
                    "type": "recommended"
                },
                {
                    "name": "Nf-2",
                    "type": "synonym"
                },
                {
                    "name": "Nf2",
                    "type": "synonym"
                },
                {
                    "name": "merlin",
                    "type": "synonym"
                }
            ],
            "record_id": "P46662-1",
            "evidence": [
                {
                    "id": "0111252",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111252"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z0H3-1",
            "uniprot_ac": "Q9Z0H3",
            "uniprot_id": "SNF5_MOUSE",
            "refseq_ac": "NP_035548",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1",
                    "type": "recommended"
                },
                {
                    "name": "BAF47",
                    "type": "synonym"
                },
                {
                    "name": "BRG1-associated factor 47",
                    "type": "synonym"
                },
                {
                    "name": "Integrase interactor 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "SNF5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1",
                    "type": "synonym"
                },
                {
                    "name": "integrase interactor 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "mSNF5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Smarcb1",
                    "type": "recommended"
                },
                {
                    "name": "Baf47",
                    "type": "synonym"
                },
                {
                    "name": "Ini1",
                    "type": "synonym"
                },
                {
                    "name": "SNF5/INI1",
                    "type": "synonym"
                },
                {
                    "name": "Smarcb1",
                    "type": "synonym"
                },
                {
                    "name": "Snf5l1",
                    "type": "synonym"
                },
                {
                    "name": "Snf5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0H3-1",
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                {
                    "id": "0111252",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111252"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00731-7",
            "uniprot_ac": "Q00731",
            "uniprot_id": "VEGFA_MOUSE",
            "refseq_ac": "NP_001020421",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vascular endothelial growth factor A, long form",
                    "type": "recommended"
                },
                {
                    "name": "L-VEGF",
                    "type": "synonym"
                },
                {
                    "name": "VPF",
                    "type": "synonym"
                },
                {
                    "name": "Vascular permeability factor",
                    "type": "synonym"
                },
                {
                    "name": "vascular endothelial growth factor A, long form isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "vascular endothelial growth factor A, long form",
                    "type": "synonym"
                },
                {
                    "name": "vascular permeability factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vegfa",
                    "type": "recommended"
                },
                {
                    "name": "L-VEGF",
                    "type": "synonym"
                },
                {
                    "name": "Vegfa",
                    "type": "synonym"
                },
                {
                    "name": "Vegf",
                    "type": "synonym"
                },
                {
                    "name": "Vpf",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00731-7",
            "evidence": [
                {
                    "id": "0111252",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111252"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35240-1",
            "uniprot_ac": "P35240",
            "uniprot_id": "MERL_HUMAN",
            "refseq_ac": "NP_000259",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Merlin",
                    "type": "recommended"
                },
                {
                    "name": "Moesin-ezrin-radixin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Neurofibromin-2",
                    "type": "synonym"
                },
                {
                    "name": "Schwannomerlin",
                    "type": "synonym"
                },
                {
                    "name": "Schwannomin",
                    "type": "synonym"
                },
                {
                    "name": "bilateral acoustic neurofibromatosis",
                    "type": "synonym"
                },
                {
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                },
                {
                    "name": "PPP1R144",
                    "type": "synonym"
                },
                {
                    "name": "RDT",
                    "type": "synonym"
                },
                {
                    "name": "RTPS1",
                    "type": "synonym"
                },
                {
                    "name": "SMARCB1",
                    "type": "synonym"
                },
                {
                    "name": "SNF5L1",
                    "type": "synonym"
                },
                {
                    "name": "SNF5",
                    "type": "synonym"
                },
                {
                    "name": "SWNTS1",
                    "type": "synonym"
                },
                {
                    "name": "Sfh1p",
                    "type": "synonym"
                },
                {
                    "name": "Snr1",
                    "type": "synonym"
                },
                {
                    "name": "hSNFS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12824-1",
            "evidence": [
                {
                    "id": "0111252",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111252"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111252"
}