{
    "disease_id": "DOID:0110476",
    "recommended_name": {
        "id": "DOID:0110476",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110476",
        "name": "autosomal recessive nonsyndromic deafness 1B",
        "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 GJB6 gene on chromosome 13q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110476",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110476",
            "name": "DFNB1B",
            "description": ""
        },
        {
            "id": "DOID:0110476",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110476",
            "name": "autosomal recessive deafness 1B",
            "description": ""
        },
        {
            "id": "MONDO:0012977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012977",
            "name": "autosomal recessive nonsyndromic hearing loss 1B",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene."
        },
        {
            "id": "MONDO:0012977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012977",
            "name": "Autosomal recessive deafness type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0012977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012977",
            "name": "DFNB1B",
            "description": ""
        },
        {
            "id": "MONDO:0012977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012977",
            "name": "GJB6 autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0012977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012977",
            "name": "autosomal recessive deafness 1B",
            "description": ""
        },
        {
            "id": "MONDO:0012977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012977",
            "name": "autosomal recessive nonsyndromic deafness 1B",
            "description": ""
        },
        {
            "id": "MONDO:0012977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012977",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in GJB6",
            "description": ""
        },
        {
            "id": "MONDO:0012977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012977",
            "name": "autosomal recessive nonsyndromic deafness type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0012977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012977",
            "name": "deafness, autosomal recessive 1B",
            "description": ""
        },
        {
            "id": "MONDO:0012977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012977",
            "name": "deafness, autosomal recessive 1b",
            "description": ""
        },
        {
            "id": "MONDO:0012977",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012977",
            "name": "deafness, autosomal recessive type 1B",
            "description": ""
        },
        {
            "id": "MIM:612645",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612645",
            "name": "Deafness, autosomal recessive, 1B",
            "description": "Deafness, autosomal recessive, 1B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110476"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110476",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110476",
            "categories": []
        },
        {
            "id": "MONDO:0012977",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012977",
            "categories": []
        },
        {
            "id": "MIM:612645",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612645",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P70689-1",
            "uniprot_ac": "P70689",
            "uniprot_id": "CXB6_MOUSE",
            "refseq_ac": "NP_001010937",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction beta-6 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-30",
                    "type": "synonym"
                },
                {
                    "name": "Cx30",
                    "type": "synonym"
                },
                {
                    "name": "connexin f",
                    "type": "synonym"
                },
                {
                    "name": "connexin-30",
                    "type": "synonym"
                },
                {
                    "name": "gap junction beta-6 protein",
                    "type": "synonym"
                },
                {
                    "name": "gap junction membrane channel protein beta 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gjb6",
                    "type": "recommended"
                },
                {
                    "name": "Cx30",
                    "type": "synonym"
                },
                {
                    "name": "Cxn-30",
                    "type": "synonym"
                },
                {
                    "name": "Cxnf",
                    "type": "synonym"
                },
                {
                    "name": "D14Bwg0506e",
                    "type": "synonym"
                },
                {
                    "name": "Gjb6",
                    "type": "synonym"
                }
            ],
            "record_id": "P70689-1",
            "evidence": [
                {
                    "id": "0110476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95452-1",
            "uniprot_ac": "O95452",
            "uniprot_id": "CXB6_HUMAN",
            "refseq_ac": "NP_001103689",
            "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-6 protein",
                    "type": "recommended"
                },
                {
                    "name": "Connexin-30",
                    "type": "synonym"
                },
                {
                    "name": "Cx30",
                    "type": "synonym"
                },
                {
                    "name": "connexin 30",
                    "type": "synonym"
                },
                {
                    "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": "612645",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612645"
                },
                {
                    "id": "0110476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110476"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AZ42-1",
            "uniprot_ac": "Q6AZ42",
            "uniprot_id": "Q6AZ42_RAT",
            "refseq_ac": "NP_001380735",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gap junction protein",
                    "type": "recommended"
                },
                {
                    "name": "connexin f",
                    "type": "synonym"
                },
                {
                    "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",
                    "type": "synonym"
                },
                {
                    "name": "Cxnf",
                    "type": "synonym"
                },
                {
                    "name": "Gjb6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6AZ42-1",
            "evidence": [
                {
                    "id": "0110476",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110476"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110476"
}