{
    "disease_id": "DOID:0110527",
    "recommended_name": {
        "id": "DOID:0110527",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110527",
        "name": "autosomal recessive nonsyndromic deafness 8",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22."
    },
    "synonyms": [
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110527",
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            "description": ""
        },
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            "url": "https://disease-ontology.org/term/DOID:0110527",
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            "url": "https://disease-ontology.org/term/DOID:0110527",
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            "url": "https://disease-ontology.org/term/DOID:0110527",
            "name": "neurosensory nonsyndromic recessive deafness 8",
            "description": ""
        },
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            "url": "https://disease-ontology.org/term/DOID:0110527",
            "name": "childhood-onset neurosensory autosomal recessive deafness 8",
            "description": ""
        },
        {
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            "name": "autosomal recessive nonsyndromic hearing loss 8",
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        },
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        },
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        },
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            "name": "DFNB8",
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        },
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        },
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            "description": ""
        },
        {
            "id": "MONDO:0010987",
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            "description": ""
        },
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            "description": ""
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            "description": ""
        },
        {
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            "description": ""
        },
        {
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            "resource": "MIM",
            "url": "https://www.omim.org/entry/601072",
            "name": "Deafness, autosomal recessive, 8",
            "description": "Deafness, autosomal recessive, 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110527"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110527",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110527",
            "categories": []
        },
        {
            "id": "MONDO:0010987",
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            "url": "https://monarchinitiative.org/disease/MONDO:0010987",
            "categories": []
        },
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            "id": "MIM:601072",
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        }
    ],
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        {
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            "uniprot_ac": "A0A8M9QK25",
            "uniprot_id": "A0A8M9QK25_DANRE",
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                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "Transmembrane protease serine 3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protease serine 3",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protease, serine 3a",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "tmprss3a",
                    "type": "recommended"
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                {
                    "name": "si:ch211-140m22.3",
                    "type": "synonym"
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                {
                    "name": "si:dkey-281i8.4",
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                {
                    "name": "tmprss3a",
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                }
            ],
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                {
                    "id": "0110527",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8K1T0-1",
            "uniprot_ac": "Q8K1T0",
            "uniprot_id": "TMPS3_MOUSE",
            "refseq_ac": "NP_542765",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protease serine 3",
                    "type": "recommended"
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                {
                    "name": "3.4.21.-",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protease serine 3 isoform 2",
                    "type": "synonym"
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                {
                    "name": "transmembrane proteinase serine 3",
                    "type": "synonym"
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                    "name": "Tmprss3",
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                {
                    "name": "Tmprss3",
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                    "id": "0110527",
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                }
            ]
        },
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            "uniprot_canonical_ac": "P57727-1",
            "uniprot_ac": "P57727",
            "uniprot_id": "TMPS3_HUMAN",
            "refseq_ac": "NP_001243246",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane protease serine 3",
                    "type": "recommended"
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                {
                    "name": "3.4.21.-",
                    "type": "synonym"
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                {
                    "name": "Serine protease TADG-12",
                    "type": "synonym"
                },
                {
                    "name": "Tumor-associated differentially-expressed gene 12 protein",
                    "type": "synonym"
                },
                {
                    "name": "serine protease TADG-12",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protease serine 3 isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane protease, serine 3",
                    "type": "synonym"
                },
                {
                    "name": "tumor-associated differentially-expressed gene 12 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMPRSS3",
                    "type": "recommended"
                },
                {
                    "name": "DFNB10",
                    "type": "synonym"
                },
                {
                    "name": "DFNB8",
                    "type": "synonym"
                },
                {
                    "name": "ECHOS1",
                    "type": "synonym"
                },
                {
                    "name": "PRO382",
                    "type": "synonym"
                },
                {
                    "name": "TADG12",
                    "type": "synonym"
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                {
                    "name": "TMPRSS3",
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            ],
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                    "url": "https://www.omim.org/entry/601072"
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                    "id": "0110527",
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        {
            "uniprot_canonical_ac": "D3ZY65-1",
            "uniprot_ac": "D3ZY65",
            "uniprot_id": "D3ZY65_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": "Transmembrane protease serine 3",
                    "type": "recommended"
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            ],
            "gene_names": [
                {
                    "name": "Tmprss3",
                    "type": "recommended"
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            ],
            "record_id": "D3ZY65-1",
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                    "id": "0110527",
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        {
            "uniprot_canonical_ac": "Q9VUF0-1",
            "uniprot_ac": "Q9VUF0",
            "uniprot_id": "Q9VUF0_DROME",
            "refseq_ac": "NP_001261841",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Peptidase S1 domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG4613-PC",
                    "type": "synonym"
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                {
                    "name": "uncharacterized protein, isoform C",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "SP40",
                    "type": "recommended"
                },
                {
                    "name": "CG4613",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4613",
                    "type": "synonym"
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                {
                    "name": "Dmel_CG4613",
                    "type": "synonym"
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                {
                    "name": "SP40",
                    "type": "synonym"
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            ],
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                    "id": "0110527",
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            "uniprot_canonical_ac": "Q9VR15-1",
            "uniprot_ac": "Q9VR15",
            "uniprot_id": "Q9VR15_DROME",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Peptidase S1 domain-containing protein",
                    "type": "recommended"
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                {
                    "name": "CG3355-PA",
                    "type": "synonym"
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                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
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                    "name": "Dmel\\CG3355",
                    "type": "recommended"
                },
                {
                    "name": "CG3355",
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                },
                {
                    "name": "Dmel\\CG3355",
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                {
                    "name": "Dmel_CG3355",
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                {
                    "name": "SP21",
                    "type": "synonym"
                }
            ],
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                    "id": "0110527",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110527"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110527"
}