{
    "disease_id": "DOID:0110544",
    "recommended_name": {
        "id": "DOID:0110544",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110544",
        "name": "autosomal dominant nonsyndromic deafness 12",
        "description": "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23."
    },
    "synonyms": [
        {
            "id": "DOID:0110544",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110544",
            "name": "DFNA12",
            "description": ""
        },
        {
            "id": "DOID:0110544",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110544",
            "name": "DFNA8",
            "description": ""
        },
        {
            "id": "DOID:0110544",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110544",
            "name": "autosomal dominant deafness 12",
            "description": ""
        },
        {
            "id": "DOID:0110544",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110544",
            "name": "autosomal dominant deafness 8",
            "description": ""
        },
        {
            "id": "MONDO:0011102",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
            "name": "autosomal dominant nonsyndromic hearing loss 12",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene."
        },
        {
            "id": "MONDO:0011102",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
            "name": "autosomal dominant nonsyndromic hearing loss 12",
            "description": ""
        },
        {
            "id": "MONDO:0011102",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
            "name": "DFNA12",
            "description": ""
        },
        {
            "id": "MONDO:0011102",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
            "name": "DFNA8",
            "description": ""
        },
        {
            "id": "MONDO:0011102",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
            "name": "TECTA autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0011102",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
            "name": "autosomal dominant deafness 12",
            "description": ""
        },
        {
            "id": "MONDO:0011102",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
            "name": "autosomal dominant deafness 8",
            "description": ""
        },
        {
            "id": "MONDO:0011102",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
            "name": "autosomal dominant nonsyndromic deafness 12",
            "description": ""
        },
        {
            "id": "MONDO:0011102",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in TECTA",
            "description": ""
        },
        {
            "id": "MONDO:0011102",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
            "name": "autosomal dominant nonsyndromic deafness type 12",
            "description": ""
        },
        {
            "id": "MONDO:0011102",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
            "name": "deafness, autosomal dominant 12",
            "description": ""
        },
        {
            "id": "MONDO:0011102",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
            "name": "deafness, autosomal dominant 8",
            "description": ""
        },
        {
            "id": "MONDO:0011102",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
            "name": "deafness, autosomal dominant 8/12",
            "description": ""
        },
        {
            "id": "MONDO:0011102",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
            "name": "deafness, autosomal dominant type 12",
            "description": ""
        },
        {
            "id": "MIM:601543",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601543",
            "name": "Deafness, autosomal dominant, 12",
            "description": "Deafness, autosomal dominant, 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110544"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110544",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110544",
            "categories": []
        },
        {
            "id": "MONDO:0011102",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011102",
            "categories": []
        },
        {
            "id": "MIM:601543",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601543",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3ASW3-1",
            "uniprot_ac": "A0A8M3ASW3",
            "uniprot_id": "A0A8M3ASW3_DANRE",
            "refseq_ac": "XP_009300199",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-tectorin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tectorin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tecta",
                    "type": "recommended"
                },
                {
                    "name": "tecta",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3ASW3-1",
            "evidence": [
                {
                    "id": "0110544",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110544"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08523-1",
            "uniprot_ac": "O08523",
            "uniprot_id": "TECTA_MOUSE",
            "refseq_ac": "NP_001311477",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-tectorin",
                    "type": "recommended"
                },
                {
                    "name": "[a]-tectorin",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tectorin isoform 2 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tectorin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tecta",
                    "type": "recommended"
                },
                {
                    "name": "Tctna",
                    "type": "synonym"
                },
                {
                    "name": "Tecta",
                    "type": "synonym"
                }
            ],
            "record_id": "O08523-1",
            "evidence": [
                {
                    "id": "0110544",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110544"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75443-1",
            "uniprot_ac": "O75443",
            "uniprot_id": "TECTA_HUMAN",
            "refseq_ac": "NP_005413",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-tectorin",
                    "type": "recommended"
                },
                {
                    "name": "alpha-tectorin precursor",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tectorin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TECTA",
                    "type": "recommended"
                },
                {
                    "name": "DFNA12",
                    "type": "synonym"
                },
                {
                    "name": "DFNA8",
                    "type": "synonym"
                },
                {
                    "name": "DFNB21",
                    "type": "synonym"
                },
                {
                    "name": "TECTA",
                    "type": "synonym"
                }
            ],
            "record_id": "O75443-1",
            "evidence": [
                {
                    "id": "601543",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601543"
                },
                {
                    "id": "0110544",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110544"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A7Z6-1",
            "uniprot_ac": "D4A7Z6",
            "uniprot_id": "D4A7Z6_RAT",
            "refseq_ac": "NP_001100284",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Alpha-tectorin",
                    "type": "recommended"
                },
                {
                    "name": "alpha-tectorin isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "alpha-tectorin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tecta",
                    "type": "recommended"
                },
                {
                    "name": "Tecta",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A7Z6-1",
            "evidence": [
                {
                    "id": "0110544",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110544"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110544"
}