{
    "disease_id": "DOID:0110475",
    "recommended_name": {
        "id": "DOID:0110475",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110475",
        "name": "autosomal recessive nonsyndromic deafness 1A",
        "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110475",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110475",
            "name": "DFNB1A",
            "description": ""
        },
        {
            "id": "DOID:0110475",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110475",
            "name": "autosomal recessive deafness 1A",
            "description": ""
        },
        {
            "id": "DOID:0110475",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110475",
            "name": "digenic deafness GJB2/GJB3",
            "description": ""
        },
        {
            "id": "DOID:0110475",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110475",
            "name": "digenic deafness GJB2/GJB6",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "autosomal recessive nonsyndromic hearing loss 1A",
            "description": "An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction."
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "autosomal recessive nonsyndromic hearing loss 1A",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "deafness, digenic GJB2/GJB6, Autosomal recessive, Digenic dominant",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "deafness, digenic, GJB2/GJB3, Autosomal recessive, Digenic dominant",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "DFNB1",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "DFNB1A",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "GJB2-related deafness",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "autosomal recessive deafness 1A",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "autosomal recessive nonsyndromic deafness 1A",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "autosomal recessive nonsyndromic deafness type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "connexin 26 deafness",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "deafness nonsyndromic, connexin 26 linked",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "deafness, autosomal recessive 1A",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "deafness, autosomal recessive 1a, autosomal recessive, digenic dominant",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "deafness, autosomal recessive type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "deafness, digenic, GJB2/GJB3",
            "description": ""
        },
        {
            "id": "MONDO:0009076",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "name": "deafness, digenic, GJB2/GJB6",
            "description": ""
        },
        {
            "id": "MIM:220290",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/220290",
            "name": "Deafness, autosomal recessive, 1A",
            "description": "Deafness, autosomal recessive, 1A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110475"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110475",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110475",
            "categories": []
        },
        {
            "id": "MONDO:0009076",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009076",
            "categories": []
        },
        {
            "id": "MIM:220290",
            "database": "MIM",
            "url": "https://www.omim.org/entry/220290",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "Q00977-1",
            "uniprot_ac": "Q00977",
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            "refseq_ac": "NP_032151",
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                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Gap junction beta-2 protein",
                    "type": "recommended"
                },
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                    "name": "Connexin-26",
                    "type": "synonym"
                },
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                    "name": "Cx26",
                    "type": "synonym"
                },
                {
                    "name": "connexin e",
                    "type": "synonym"
                },
                {
                    "name": "connexin-26",
                    "type": "synonym"
                },
                {
                    "name": "gap junction beta-2 protein",
                    "type": "synonym"
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                {
                    "name": "gap junction membrane channel protein beta 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Gjb2",
                    "type": "recommended"
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                {
                    "name": "Cnx26",
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                },
                {
                    "name": "Cx26",
                    "type": "synonym"
                },
                {
                    "name": "Cxn-26",
                    "type": "synonym"
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                {
                    "name": "Cxne",
                    "type": "synonym"
                },
                {
                    "name": "Gjb-2",
                    "type": "synonym"
                },
                {
                    "name": "Gjb2",
                    "type": "synonym"
                }
            ],
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                    "id": "0110475",
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            ]
        },
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                    "common_name": "Mouse",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Gap junction beta-6 protein",
                    "type": "recommended"
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                    "name": "Connexin-30",
                    "type": "synonym"
                },
                {
                    "name": "Cx30",
                    "type": "synonym"
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                    "name": "connexin f",
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                    "name": "gap junction membrane channel protein beta 6",
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                    "name": "Gjb6",
                    "type": "recommended"
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                    "name": "Cx30",
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                },
                {
                    "name": "Cxn-30",
                    "type": "synonym"
                },
                {
                    "name": "Cxnf",
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                {
                    "name": "D14Bwg0506e",
                    "type": "synonym"
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                    "id": "0110475",
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        },
        {
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                    "name": "Mus musculus",
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                }
            ],
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                    "name": "Gap junction beta-3 protein",
                    "type": "recommended"
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                    "name": "Connexin-31",
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                {
                    "name": "Cx31",
                    "type": "synonym"
                },
                {
                    "name": "connexin c",
                    "type": "synonym"
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                {
                    "name": "connexin-31",
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                {
                    "name": "gap junction beta-3 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction membrane channel protein beta 3",
                    "type": "synonym"
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            ],
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                    "name": "Gjb3",
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                {
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                },
                {
                    "name": "Cx31",
                    "type": "synonym"
                },
                {
                    "name": "Cxn-31",
                    "type": "synonym"
                },
                {
                    "name": "Cxnc",
                    "type": "synonym"
                },
                {
                    "name": "D4Wsu144e",
                    "type": "synonym"
                },
                {
                    "name": "Gjb-3",
                    "type": "synonym"
                },
                {
                    "name": "Gjb3",
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                }
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        {
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                {
                    "name": "Homo sapiens",
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Gap junction beta-2 protein",
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                    "type": "synonym"
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                    "type": "synonym"
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                    "name": "gap junction beta 2 proteinc",
                    "type": "synonym"
                },
                {
                    "name": "gap junction beta-2 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction protein, beta 2, 26kDa",
                    "type": "synonym"
                },
                {
                    "name": "mutant gap junction beta 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "mutant gap junction protein beta 2",
                    "type": "synonym"
                }
            ],
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                    "type": "recommended"
                },
                {
                    "name": "BAPS",
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                {
                    "name": "CX26",
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                },
                {
                    "name": "DFNA3A",
                    "type": "synonym"
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                {
                    "name": "DFNA3",
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                {
                    "name": "DFNB1A",
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                {
                    "name": "DFNB1",
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                    "name": "GJB2",
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                {
                    "name": "HID",
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                {
                    "name": "KID",
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                    "name": "NSRD1",
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                {
                    "id": "0110475",
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                }
            ]
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        {
            "uniprot_canonical_ac": "P21994-1",
            "uniprot_ac": "P21994",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Gap junction beta-2 protein",
                    "type": "recommended"
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                    "name": "Connexin-26",
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                },
                {
                    "name": "Cx26",
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                    "name": "connexin e",
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                    "name": "gap junction beta-2 protein",
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                {
                    "name": "gap junction membrane channel protein beta 2",
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                }
            ],
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                {
                    "name": "Gjb2",
                    "type": "recommended"
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                    "name": "CXN-26",
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                },
                {
                    "name": "Cx26",
                    "type": "synonym"
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                {
                    "name": "Cxn-26",
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                {
                    "name": "Cxne",
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                    "name": "Gjb2",
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            ],
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                    "id": "0110475",
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            "uniprot_canonical_ac": "Q6AZ42-1",
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                    "name": "Rattus norvegicus",
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                }
            ],
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                    "type": "recommended"
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                    "name": "connexin f",
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                    "name": "gap junction beta-6 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction membrane channel protein beta 6",
                    "type": "synonym"
                },
                {
                    "name": "gap junction protein, beta 6 (connexin 30)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gjb6",
                    "type": "recommended"
                },
                {
                    "name": "Cx30",
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                },
                {
                    "name": "Cxnf",
                    "type": "synonym"
                },
                {
                    "name": "Gjb6",
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            ],
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                {
                    "id": "0110475",
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                }
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        {
            "uniprot_canonical_ac": "P25305-1",
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                    "name": "Gap junction beta-3 protein",
                    "type": "recommended"
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                    "name": "Connexin-31",
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                },
                {
                    "name": "Cx31",
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                },
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                    "name": "connexin c",
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                },
                {
                    "name": "connexin-31",
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                {
                    "name": "cx31",
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                },
                {
                    "name": "gap junction beta-3 protein",
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                },
                {
                    "name": "gap junction membrane channel protein beta 3",
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                }
            ],
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                {
                    "name": "Gjb3",
                    "type": "recommended"
                },
                {
                    "name": "Cxn-31",
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                },
                {
                    "name": "Cxnc",
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                    "name": "Gjb3",
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                }
            ],
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                    "id": "0110475",
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                }
            ],
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                {
                    "name": "Drebrin",
                    "type": "recommended"
                },
                {
                    "name": "Developmentally-regulated brain protein",
                    "type": "synonym"
                },
                {
                    "name": "developmentally-regulated brain protein",
                    "type": "synonym"
                },
                {
                    "name": "drebrin A",
                    "type": "synonym"
                },
                {
                    "name": "drebrin E2",
                    "type": "synonym"
                },
                {
                    "name": "drebrin isoform c",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "DBN1",
                    "type": "recommended"
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                {
                    "name": "D0S117E",
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                {
                    "name": "DBN1",
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            ],
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                    "id": "0110475",
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            ]
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            "uniprot_canonical_ac": "O95452-1",
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                    "name": "Homo sapiens",
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                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Gap junction beta-6 protein",
                    "type": "recommended"
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                    "name": "Connexin-30",
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                },
                {
                    "name": "Cx30",
                    "type": "synonym"
                },
                {
                    "name": "connexin 30",
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                },
                {
                    "name": "ectodermal dysplasia 2, hidrotic (Clouston syndrome)",
                    "type": "synonym"
                },
                {
                    "name": "gap junction beta-6 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction protein, beta 6, 30kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GJB6",
                    "type": "recommended"
                },
                {
                    "name": "CX30",
                    "type": "synonym"
                },
                {
                    "name": "DFNA3B",
                    "type": "synonym"
                },
                {
                    "name": "DFNA3",
                    "type": "synonym"
                },
                {
                    "name": "DFNB1B",
                    "type": "synonym"
                },
                {
                    "name": "ECTD2",
                    "type": "synonym"
                },
                {
                    "name": "ED2",
                    "type": "synonym"
                },
                {
                    "name": "EDH",
                    "type": "synonym"
                },
                {
                    "name": "GJB6",
                    "type": "synonym"
                },
                {
                    "name": "HED2",
                    "type": "synonym"
                },
                {
                    "name": "HED",
                    "type": "synonym"
                }
            ],
            "record_id": "O95452-1",
            "evidence": [
                {
                    "id": "0110475",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110475"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75712-1",
            "uniprot_ac": "O75712",
            "uniprot_id": "CXB3_HUMAN",
            "refseq_ac": "NP_001005752",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction beta-3 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-31",
                    "type": "synonym"
                },
                {
                    "name": "Cx31",
                    "type": "synonym"
                },
                {
                    "name": "connexin 31",
                    "type": "synonym"
                },
                {
                    "name": "gap junction beta-3 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction protein, beta 3, 31kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GJB3",
                    "type": "recommended"
                },
                {
                    "name": "CX31",
                    "type": "synonym"
                },
                {
                    "name": "DFNA2B",
                    "type": "synonym"
                },
                {
                    "name": "DFNA2",
                    "type": "synonym"
                },
                {
                    "name": "EKVP1",
                    "type": "synonym"
                },
                {
                    "name": "EKV",
                    "type": "synonym"
                },
                {
                    "name": "GJB3",
                    "type": "synonym"
                }
            ],
            "record_id": "O75712-1",
            "evidence": [
                {
                    "id": "0110475",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110475"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110475"
}