{
    "disease_id": "DOID:0110593",
    "recommended_name": {
        "id": "DOID:0110593",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110593",
        "name": "autosomal dominant nonsyndromic deafness 9",
        "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110593",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110593",
            "name": "DFNA9",
            "description": ""
        },
        {
            "id": "DOID:0110593",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110593",
            "name": "autosomal dominant deafness 9",
            "description": ""
        },
        {
            "id": "MONDO:0011058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011058",
            "name": "autosomal dominant nonsyndromic hearing loss 9",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene."
        },
        {
            "id": "MONDO:0011058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011058",
            "name": "COCH autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0011058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011058",
            "name": "DFNA9",
            "description": ""
        },
        {
            "id": "MONDO:0011058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011058",
            "name": "autosomal dominant deafness 9",
            "description": ""
        },
        {
            "id": "MONDO:0011058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011058",
            "name": "autosomal dominant nonsyndromic deafness 9",
            "description": ""
        },
        {
            "id": "MONDO:0011058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011058",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in COCH",
            "description": ""
        },
        {
            "id": "MONDO:0011058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011058",
            "name": "autosomal dominant nonsyndromic deafness type 9",
            "description": ""
        },
        {
            "id": "MONDO:0011058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011058",
            "name": "deafness, autosomal dominant 9",
            "description": ""
        },
        {
            "id": "MONDO:0011058",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011058",
            "name": "deafness, autosomal dominant type 9",
            "description": ""
        },
        {
            "id": "MIM:601369",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601369",
            "name": "Deafness, autosomal dominant, 9",
            "description": "Deafness, autosomal dominant, 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110593"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110593",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110593",
            "categories": []
        },
        {
            "id": "MONDO:0011058",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011058",
            "categories": []
        },
        {
            "id": "MIM:601369",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601369",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8AW56-1",
            "uniprot_ac": "Q8AW56",
            "uniprot_id": "Q8AW56_DANRE",
            "refseq_ac": "NP_001003823",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cochlin",
                    "type": "recommended"
                },
                {
                    "name": "cochlin precursor",
                    "type": "synonym"
                },
                {
                    "name": "cochlin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "coch",
                    "type": "recommended"
                },
                {
                    "name": "coch",
                    "type": "synonym"
                },
                {
                    "name": "si:dz234g15.4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8AW56-1",
            "evidence": [
                {
                    "id": "0110593",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110593"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62507-1",
            "uniprot_ac": "Q62507",
            "uniprot_id": "COCH_MOUSE",
            "refseq_ac": "NP_001185764",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cochlin",
                    "type": "recommended"
                },
                {
                    "name": "COCH-5B2",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor C homolog (Limulus polyphemus)",
                    "type": "synonym"
                },
                {
                    "name": "cochlin isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coch",
                    "type": "recommended"
                },
                {
                    "name": "Coch-5B2",
                    "type": "synonym"
                },
                {
                    "name": "Coch",
                    "type": "synonym"
                },
                {
                    "name": "D12H14S564E",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62507-1",
            "evidence": [
                {
                    "id": "0110593",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110593"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43405-1",
            "uniprot_ac": "O43405",
            "uniprot_id": "COCH_HUMAN",
            "refseq_ac": "NP_001128530",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cochlin",
                    "type": "recommended"
                },
                {
                    "name": "COCH-5B2",
                    "type": "synonym"
                },
                {
                    "name": "coagulation factor C homolog, cochlin (Limulus polyphemus)",
                    "type": "synonym"
                },
                {
                    "name": "cochlin isoform b precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COCH",
                    "type": "recommended"
                },
                {
                    "name": "COCH-5B2",
                    "type": "synonym"
                },
                {
                    "name": "COCH5B2",
                    "type": "synonym"
                },
                {
                    "name": "COCH",
                    "type": "synonym"
                },
                {
                    "name": "DFNA9",
                    "type": "synonym"
                },
                {
                    "name": "DFNB110",
                    "type": "synonym"
                },
                {
                    "name": "PRO294",
                    "type": "synonym"
                }
            ],
            "record_id": "O43405-1",
            "evidence": [
                {
                    "id": "601369",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601369"
                },
                {
                    "id": "0110593",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110593"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M8U6-1",
            "uniprot_ac": "A0ABK0M8U6",
            "uniprot_id": "A0ABK0M8U6_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": "Cochlin",
                    "type": "recommended"
                },
                {
                    "name": "COCH-5B2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Coch",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0M8U6-1",
            "evidence": [
                {
                    "id": "0110593",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110593"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64535-1",
            "uniprot_ac": "Q64535",
            "uniprot_id": "ATP7B_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": "Copper-transporting ATPase 2",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.8",
                    "type": "synonym"
                },
                {
                    "name": "Copper pump 2",
                    "type": "synonym"
                },
                {
                    "name": "Pineal night-specific ATPase",
                    "type": "synonym"
                },
                {
                    "name": "Wilson disease-associated protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp7b",
                    "type": "recommended"
                },
                {
                    "name": "Pina",
                    "type": "synonym"
                },
                {
                    "name": "Wnd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64535-1",
            "evidence": [
                {
                    "id": "0110593",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110593"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110593"
}