{
    "disease_id": "DOID:0110558",
    "recommended_name": {
        "id": "DOID:0110558",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110558",
        "name": "autosomal dominant nonsyndromic deafness 2A",
        "description": "An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110558",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110558",
            "name": "DFNA2A",
            "description": ""
        },
        {
            "id": "DOID:0110558",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110558",
            "name": "autosomal dominant deafness 2A",
            "description": ""
        },
        {
            "id": "MONDO:0010817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010817",
            "name": "autosomal dominant nonsyndromic hearing loss 2A",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene."
        },
        {
            "id": "MONDO:0010817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010817",
            "name": "DFNA2A",
            "description": ""
        },
        {
            "id": "MONDO:0010817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010817",
            "name": "KCNQ4 autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010817",
            "name": "autosomal dominant deafness 2A",
            "description": ""
        },
        {
            "id": "MONDO:0010817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010817",
            "name": "autosomal dominant nonsyndromic deafness 2A",
            "description": ""
        },
        {
            "id": "MONDO:0010817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010817",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in KCNQ4",
            "description": ""
        },
        {
            "id": "MONDO:0010817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010817",
            "name": "autosomal dominant nonsyndromic deafness type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0010817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010817",
            "name": "deafness, autosomal dominant 2A",
            "description": ""
        },
        {
            "id": "MONDO:0010817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010817",
            "name": "deafness, autosomal dominant 2a",
            "description": ""
        },
        {
            "id": "MONDO:0010817",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010817",
            "name": "deafness, autosomal dominant type 2A",
            "description": ""
        },
        {
            "id": "MIM:600101",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600101",
            "name": "Deafness, autosomal dominant, 2A",
            "description": "Deafness, autosomal dominant, 2A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110558"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110558",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110558",
            "categories": []
        },
        {
            "id": "MONDO:0010817",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010817",
            "categories": []
        },
        {
            "id": "MIM:600101",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600101",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P28231-1",
            "uniprot_ac": "P28231",
            "uniprot_id": "CXB3_MOUSE",
            "refseq_ac": "NP_001153484",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction beta-3 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-31",
                    "type": "synonym"
                },
                {
                    "name": "Cx31",
                    "type": "synonym"
                },
                {
                    "name": "connexin c",
                    "type": "synonym"
                },
                {
                    "name": "connexin-31",
                    "type": "synonym"
                },
                {
                    "name": "gap junction beta-3 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction membrane channel protein beta 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gjb3",
                    "type": "recommended"
                },
                {
                    "name": "Cnx31",
                    "type": "synonym"
                },
                {
                    "name": "Cx31",
                    "type": "synonym"
                },
                {
                    "name": "Cxn-31",
                    "type": "synonym"
                },
                {
                    "name": "Cxnc",
                    "type": "synonym"
                },
                {
                    "name": "D4Wsu144e",
                    "type": "synonym"
                },
                {
                    "name": "Gjb-3",
                    "type": "synonym"
                },
                {
                    "name": "Gjb3",
                    "type": "synonym"
                }
            ],
            "record_id": "P28231-1",
            "evidence": [
                {
                    "id": "0110558",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110558"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JK97-1",
            "uniprot_ac": "Q9JK97",
            "uniprot_id": "KCNQ4_MOUSE",
            "refseq_ac": "NP_001074611",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily KQT member 4",
                    "type": "recommended"
                },
                {
                    "name": "KQT-like 4",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel subunit alpha KvLQT4",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv7.4",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subunit alpha KvLQT4",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 4",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv7.4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnq4",
                    "type": "recommended"
                },
                {
                    "name": "Kcnq4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JK97-1",
            "evidence": [
                {
                    "id": "0110558",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110558"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56696-1",
            "uniprot_ac": "P56696",
            "uniprot_id": "KCNQ4_HUMAN",
            "refseq_ac": "NP_004691",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily KQT member 4",
                    "type": "recommended"
                },
                {
                    "name": "KQT-like 4",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel subunit alpha KvLQT4",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv7.4",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel KQT-like 4",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subunit alpha KvLQT4",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated KQT-like subfamily Q, member 4",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 4 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 4",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, KQT-like subfamily, member 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNQ4",
                    "type": "recommended"
                },
                {
                    "name": "DFNA2A",
                    "type": "synonym"
                },
                {
                    "name": "DFNA2",
                    "type": "synonym"
                },
                {
                    "name": "KCNQ4",
                    "type": "synonym"
                },
                {
                    "name": "KV7.4",
                    "type": "synonym"
                }
            ],
            "record_id": "P56696-1",
            "evidence": [
                {
                    "id": "600101",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600101"
                },
                {
                    "id": "0110558",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110558"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JK96-1",
            "uniprot_ac": "Q9JK96",
            "uniprot_id": "KCNQ4_RAT",
            "refseq_ac": "NP_001406504",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily KQT member 4",
                    "type": "recommended"
                },
                {
                    "name": "KQT-like 4",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel subunit alpha KvLQT4",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv7.4",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel subunit alpha KvLQT4",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage-gated KQT-like subfamily Q, member 4",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily KQT member 4",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, KQT-like subfamily, member 4",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv7.4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnq4",
                    "type": "recommended"
                },
                {
                    "name": "Kcnq4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JK96-1",
            "evidence": [
                {
                    "id": "0110558",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110558"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z856-1",
            "uniprot_ac": "A1Z856",
            "uniprot_id": "A1Z856_DROME",
            "refseq_ac": "NP_788300",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG33135-PF",
                    "type": "synonym"
                },
                {
                    "name": "KCNQ potassium channel, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "KCNQ-PF",
                    "type": "synonym"
                },
                {
                    "name": "KCNQ-type K[+] channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNQ",
                    "type": "recommended"
                },
                {
                    "name": "CG12215",
                    "type": "synonym"
                },
                {
                    "name": "CG12915",
                    "type": "synonym"
                },
                {
                    "name": "CG33135",
                    "type": "synonym"
                },
                {
                    "name": "DKCNQ",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33135",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33135",
                    "type": "synonym"
                },
                {
                    "name": "KCNQ1",
                    "type": "synonym"
                },
                {
                    "name": "KCNQ",
                    "type": "synonym"
                },
                {
                    "name": "KQT 1",
                    "type": "synonym"
                },
                {
                    "name": "KQT",
                    "type": "synonym"
                },
                {
                    "name": "dKCNQ",
                    "type": "synonym"
                },
                {
                    "name": "kcnq1",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z856-1",
            "evidence": [
                {
                    "id": "0110558",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110558"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110558"
}