{
    "disease_id": "DOID:0110581",
    "recommended_name": {
        "id": "DOID:0110581",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110581",
        "name": "autosomal dominant nonsyndromic deafness 56",
        "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TNC gene on chromosome 9q33."
    },
    "synonyms": [
        {
            "id": "DOID:0110581",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110581",
            "name": "DFNA56",
            "description": ""
        },
        {
            "id": "DOID:0110581",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110581",
            "name": "autosomal dominant deafness 56",
            "description": ""
        },
        {
            "id": "MONDO:0014283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014283",
            "name": "autosomal dominant nonsyndromic hearing loss 56",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene."
        },
        {
            "id": "MONDO:0014283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014283",
            "name": "DFNA56",
            "description": ""
        },
        {
            "id": "MONDO:0014283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014283",
            "name": "TNC autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0014283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014283",
            "name": "autosomal dominant deafness 56",
            "description": ""
        },
        {
            "id": "MONDO:0014283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014283",
            "name": "autosomal dominant nonsyndromic deafness 56",
            "description": ""
        },
        {
            "id": "MONDO:0014283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014283",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in TNC",
            "description": ""
        },
        {
            "id": "MONDO:0014283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014283",
            "name": "autosomal dominant nonsyndromic deafness type 56",
            "description": ""
        },
        {
            "id": "MONDO:0014283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014283",
            "name": "deafness, autosomal dominant 56",
            "description": ""
        },
        {
            "id": "MONDO:0014283",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014283",
            "name": "deafness, autosomal dominant type 56",
            "description": ""
        },
        {
            "id": "MIM:615629",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615629",
            "name": "Deafness, autosomal dominant, 56",
            "description": "Deafness, autosomal dominant, 56"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110581"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110581",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110581",
            "categories": []
        },
        {
            "id": "MONDO:0014283",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014283",
            "categories": []
        },
        {
            "id": "MIM:615629",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615629",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TRK9-1",
            "uniprot_ac": "A0AB32TRK9",
            "uniprot_id": "A0AB32TRK9_DANRE",
            "refseq_ac": "XP_068077498",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tenascin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "tenascin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tnca",
                    "type": "recommended"
                },
                {
                    "name": "tnca",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TRK9-1",
            "evidence": [
                {
                    "id": "0110581",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110581"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QYE2-1",
            "uniprot_ac": "F1QYE2",
            "uniprot_id": "F1QYE2_DANRE",
            "refseq_ac": "NP_001299845",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tenascin isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "Tenascin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "etID309720.5",
                    "type": "synonym"
                },
                {
                    "name": "tenascin C",
                    "type": "synonym"
                },
                {
                    "name": "tenascin isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tncb",
                    "type": "recommended"
                },
                {
                    "name": "tenc",
                    "type": "synonym"
                },
                {
                    "name": "tncb",
                    "type": "synonym"
                },
                {
                    "name": "tnc",
                    "type": "synonym"
                },
                {
                    "name": "wu:fk04d02",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QYE2-1",
            "evidence": [
                {
                    "id": "0110581",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110581"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80YX1-1",
            "uniprot_ac": "Q80YX1",
            "uniprot_id": "TENA_MOUSE",
            "refseq_ac": "NP_035737",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tenascin",
                    "type": "recommended"
                },
                {
                    "name": "Hexabrachion",
                    "type": "synonym"
                },
                {
                    "name": "TN-C",
                    "type": "synonym"
                },
                {
                    "name": "TN",
                    "type": "synonym"
                },
                {
                    "name": "Tenascin-C",
                    "type": "synonym"
                },
                {
                    "name": "hexabrachion",
                    "type": "synonym"
                },
                {
                    "name": "tenascin isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnc",
                    "type": "recommended"
                },
                {
                    "name": "C130033P17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Hxb",
                    "type": "synonym"
                },
                {
                    "name": "TN-C",
                    "type": "synonym"
                },
                {
                    "name": "TN",
                    "type": "synonym"
                },
                {
                    "name": "Ten",
                    "type": "synonym"
                },
                {
                    "name": "Tnc",
                    "type": "synonym"
                },
                {
                    "name": "cytotactin",
                    "type": "synonym"
                },
                {
                    "name": "tenascin-C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80YX1-1",
            "evidence": [
                {
                    "id": "0110581",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110581"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24821-1",
            "uniprot_ac": "P24821",
            "uniprot_id": "TENA_HUMAN",
            "refseq_ac": "NP_002151",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tenascin",
                    "type": "recommended"
                },
                {
                    "name": "Cytotactin",
                    "type": "synonym"
                },
                {
                    "name": "GMEM",
                    "type": "synonym"
                },
                {
                    "name": "GP 150-225",
                    "type": "synonym"
                },
                {
                    "name": "Glioma-associated-extracellular matrix antigen",
                    "type": "synonym"
                },
                {
                    "name": "Hexabrachion",
                    "type": "synonym"
                },
                {
                    "name": "JI",
                    "type": "synonym"
                },
                {
                    "name": "Myotendinous antigen",
                    "type": "synonym"
                },
                {
                    "name": "Neuronectin",
                    "type": "synonym"
                },
                {
                    "name": "TN-C",
                    "type": "synonym"
                },
                {
                    "name": "TN",
                    "type": "synonym"
                },
                {
                    "name": "Tenascin-C",
                    "type": "synonym"
                },
                {
                    "name": "cytotactin",
                    "type": "synonym"
                },
                {
                    "name": "deafness, autosomal dominant 56",
                    "type": "synonym"
                },
                {
                    "name": "glioma-associated-extracellular matrix antigen",
                    "type": "synonym"
                },
                {
                    "name": "hexabrachion (tenascin)",
                    "type": "synonym"
                },
                {
                    "name": "myotendinous antigen",
                    "type": "synonym"
                },
                {
                    "name": "neuronectin",
                    "type": "synonym"
                },
                {
                    "name": "tenascin isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "tenascin-C additional domain 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNC",
                    "type": "recommended"
                },
                {
                    "name": "150-225",
                    "type": "synonym"
                },
                {
                    "name": "DFNA56",
                    "type": "synonym"
                },
                {
                    "name": "GMEM",
                    "type": "synonym"
                },
                {
                    "name": "GP",
                    "type": "synonym"
                },
                {
                    "name": "HXB",
                    "type": "synonym"
                },
                {
                    "name": "JI",
                    "type": "synonym"
                },
                {
                    "name": "TN-C",
                    "type": "synonym"
                },
                {
                    "name": "TNC",
                    "type": "synonym"
                },
                {
                    "name": "TN",
                    "type": "synonym"
                }
            ],
            "record_id": "P24821-1",
            "evidence": [
                {
                    "id": "615629",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615629"
                },
                {
                    "id": "0110581",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110581"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K1L0-1",
            "uniprot_ac": "A0A0G2K1L0",
            "uniprot_id": "A0A0G2K1L0_RAT",
            "refseq_ac": "XP_008761978",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tenascin",
                    "type": "recommended"
                },
                {
                    "name": "Hexabrachion",
                    "type": "synonym"
                },
                {
                    "name": "Tenascin-C",
                    "type": "synonym"
                },
                {
                    "name": "tenascin isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnc",
                    "type": "recommended"
                },
                {
                    "name": "Tnc",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K1L0-1",
            "evidence": [
                {
                    "id": "0110581",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110581"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110581"
}
