{
    "disease_id": "DOID:0070609",
    "recommended_name": {
        "id": "DOID:0070609",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070609",
        "name": "autosomal dominant nonsyndromic deafness 83",
        "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070609",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070609",
            "name": "DFNA83",
            "description": ""
        },
        {
            "id": "DOID:0070609",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070609",
            "name": "autosomal dominant deafness 83",
            "description": ""
        },
        {
            "id": "MONDO:0030723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030723",
            "name": "hearing loss, autosomal dominant 83",
            "description": ""
        },
        {
            "id": "MONDO:0030723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030723",
            "name": "DFNA83",
            "description": ""
        },
        {
            "id": "MONDO:0030723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030723",
            "name": "deafness, autosomal dominant 83",
            "description": ""
        },
        {
            "id": "MIM:619808",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619808",
            "name": "Deafness, autosomal dominant, 83",
            "description": "Deafness, autosomal dominant, 83"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070609"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070609",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070609",
            "categories": []
        },
        {
            "id": "MONDO:0030723",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030723",
            "categories": []
        },
        {
            "id": "MIM:619808",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619808",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P14873-1",
            "uniprot_ac": "P14873",
            "uniprot_id": "MAP1B_MOUSE",
            "refseq_ac": "NP_032660",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microtubule-associated protein 1B",
                    "type": "recommended"
                },
                {
                    "name": "MAP-1B",
                    "type": "synonym"
                },
                {
                    "name": "MAP1(X)",
                    "type": "synonym"
                },
                {
                    "name": "MAP1.2",
                    "type": "synonym"
                },
                {
                    "name": "Microtubule-associated protein 1B (MAP 1B) (MAP1.2) (MAP1(X))",
                    "type": "synonym"
                },
                {
                    "name": "microtubule-associated protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "microtubule-associated protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Map1b",
                    "type": "recommended"
                },
                {
                    "name": "A230055D22",
                    "type": "synonym"
                },
                {
                    "name": "LC1",
                    "type": "synonym"
                },
                {
                    "name": "MAP5",
                    "type": "synonym"
                },
                {
                    "name": "Map1b",
                    "type": "synonym"
                },
                {
                    "name": "Mtap-5",
                    "type": "synonym"
                },
                {
                    "name": "Mtap1b",
                    "type": "synonym"
                },
                {
                    "name": "Mtap5",
                    "type": "synonym"
                }
            ],
            "record_id": "P14873-1",
            "evidence": [
                {
                    "id": "0070609",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070609"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46821-1",
            "uniprot_ac": "P46821",
            "uniprot_id": "MAP1B_HUMAN",
            "refseq_ac": "NP_005900",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microtubule-associated protein 1B",
                    "type": "recommended"
                },
                {
                    "name": "MAP-1B",
                    "type": "synonym"
                },
                {
                    "name": "microtubule-associated protein 1B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase 1, regulatory subunit 102",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAP1B",
                    "type": "recommended"
                },
                {
                    "name": "DFNA83",
                    "type": "synonym"
                },
                {
                    "name": "FUTSCH",
                    "type": "synonym"
                },
                {
                    "name": "MAP1B",
                    "type": "synonym"
                },
                {
                    "name": "MAP5",
                    "type": "synonym"
                },
                {
                    "name": "PPP1R102",
                    "type": "synonym"
                },
                {
                    "name": "PVNH9",
                    "type": "synonym"
                }
            ],
            "record_id": "P46821-1",
            "evidence": [
                {
                    "id": "619808",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619808"
                },
                {
                    "id": "0070609",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070609"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P45446-2",
            "uniprot_ac": "P45446",
            "uniprot_id": "RORB_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": "Nuclear receptor ROR-beta",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear receptor RZR-beta",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group F member 2",
                    "type": "synonym"
                },
                {
                    "name": "Retinoid-related orphan receptor-beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rorb",
                    "type": "recommended"
                },
                {
                    "name": "Nr1f2",
                    "type": "synonym"
                },
                {
                    "name": "Rzrb",
                    "type": "synonym"
                }
            ],
            "record_id": "P45446-2",
            "evidence": [
                {
                    "id": "0070609",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070609"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15205-1",
            "uniprot_ac": "P15205",
            "uniprot_id": "MAP1B_RAT",
            "refseq_ac": "NP_062090",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microtubule-associated protein 1B",
                    "type": "recommended"
                },
                {
                    "name": "MAP-1B",
                    "type": "synonym"
                },
                {
                    "name": "Neuraxin",
                    "type": "synonym"
                },
                {
                    "name": "microtubule-associated protein 1B",
                    "type": "synonym"
                },
                {
                    "name": "neuraxin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Map1b",
                    "type": "recommended"
                },
                {
                    "name": "Map1b",
                    "type": "synonym"
                },
                {
                    "name": "Mtap1b",
                    "type": "synonym"
                }
            ],
            "record_id": "P15205-1",
            "evidence": [
                {
                    "id": "0070609",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070609"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W596-1",
            "uniprot_ac": "Q9W596",
            "uniprot_id": "FUTSC_DROME",
            "refseq_ac": "NP_001096864",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microtubule-associated protein futsch",
                    "type": "recommended"
                },
                {
                    "name": "CG34387-PC",
                    "type": "synonym"
                },
                {
                    "name": "MAP1B homolog",
                    "type": "synonym"
                },
                {
                    "name": "MAP1B-like",
                    "type": "synonym"
                },
                {
                    "name": "MAP1B",
                    "type": "synonym"
                },
                {
                    "name": "futch",
                    "type": "synonym"
                },
                {
                    "name": "futsch, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "futsch-PC",
                    "type": "synonym"
                },
                {
                    "name": "omb-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "futsch",
                    "type": "recommended"
                },
                {
                    "name": "22C10/FUTSCH",
                    "type": "synonym"
                },
                {
                    "name": "22C10",
                    "type": "synonym"
                },
                {
                    "name": "22C20",
                    "type": "synonym"
                },
                {
                    "name": "22c10",
                    "type": "synonym"
                },
                {
                    "name": "CG14772",
                    "type": "synonym"
                },
                {
                    "name": "CG3064",
                    "type": "synonym"
                },
                {
                    "name": "CG34387",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34387",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG34387",
                    "type": "synonym"
                },
                {
                    "name": "EG:49E4.1",
                    "type": "synonym"
                },
                {
                    "name": "FUTSCH",
                    "type": "synonym"
                },
                {
                    "name": "Futch",
                    "type": "synonym"
                },
                {
                    "name": "Futsch",
                    "type": "synonym"
                },
                {
                    "name": "MAP-1b",
                    "type": "synonym"
                },
                {
                    "name": "MAP-IB",
                    "type": "synonym"
                },
                {
                    "name": "MAP1B",
                    "type": "synonym"
                },
                {
                    "name": "MAb22C10",
                    "type": "synonym"
                },
                {
                    "name": "Mab 22C10",
                    "type": "synonym"
                },
                {
                    "name": "Mab22C10",
                    "type": "synonym"
                },
                {
                    "name": "Mab22c10",
                    "type": "synonym"
                },
                {
                    "name": "Map-1B",
                    "type": "synonym"
                },
                {
                    "name": "Map1B",
                    "type": "synonym"
                },
                {
                    "name": "Olk",
                    "type": "synonym"
                },
                {
                    "name": "futsch",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.936",
                    "type": "synonym"
                },
                {
                    "name": "mAb 22C10",
                    "type": "synonym"
                },
                {
                    "name": "mAb-22C10",
                    "type": "synonym"
                },
                {
                    "name": "mAb22C10",
                    "type": "synonym"
                },
                {
                    "name": "mAb22c10",
                    "type": "synonym"
                },
                {
                    "name": "map1b",
                    "type": "synonym"
                },
                {
                    "name": "olk",
                    "type": "synonym"
                },
                {
                    "name": "ssC10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W596-1",
            "evidence": [
                {
                    "id": "0070609",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070609"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95456-1",
            "uniprot_ac": "O95456",
            "uniprot_id": "PSMG1_HUMAN",
            "refseq_ac": "NP_003711",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteasome assembly chaperone 1",
                    "type": "recommended"
                },
                {
                    "name": "C21-LRP",
                    "type": "synonym"
                },
                {
                    "name": "Chromosome 21 leucine-rich protein",
                    "type": "synonym"
                },
                {
                    "name": "Down syndrome critical region gene 2",
                    "type": "synonym"
                },
                {
                    "name": "Down syndrome critical region protein 2",
                    "type": "synonym"
                },
                {
                    "name": "PAC-1",
                    "type": "synonym"
                },
                {
                    "name": "Pba1",
                    "type": "synonym"
                },
                {
                    "name": "Proteasome chaperone homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "chromosome 21 leucine-rich protein",
                    "type": "synonym"
                },
                {
                    "name": "leucine rich protein C21-LRP",
                    "type": "synonym"
                },
                {
                    "name": "proteasome (prosome, macropain) assembly chaperone 1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome assembling chaperone 1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome assembly chaperone 1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "proteasome chaperone homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PSMG1",
                    "type": "recommended"
                },
                {
                    "name": "C21LRP",
                    "type": "synonym"
                },
                {
                    "name": "DSCR2",
                    "type": "synonym"
                },
                {
                    "name": "LRPC21",
                    "type": "synonym"
                },
                {
                    "name": "PAC-1",
                    "type": "synonym"
                },
                {
                    "name": "PAC1",
                    "type": "synonym"
                },
                {
                    "name": "PSMG1",
                    "type": "synonym"
                },
                {
                    "name": "Pba1",
                    "type": "synonym"
                }
            ],
            "record_id": "O95456-1",
            "evidence": [
                {
                    "id": "0070609",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070609"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070609"
}