{
    "disease_id": "DOID:0110487",
    "recommended_name": {
        "id": "DOID:0110487",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110487",
        "name": "autosomal recessive nonsyndromic deafness 29",
        "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110487",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110487",
            "name": "DFNB29",
            "description": ""
        },
        {
            "id": "DOID:0110487",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110487",
            "name": "autosomal recessive deafness 29",
            "description": ""
        },
        {
            "id": "MONDO:0013537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013537",
            "name": "autosomal recessive nonsyndromic hearing loss 29",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene."
        },
        {
            "id": "MONDO:0013537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013537",
            "name": "autosomal recessive nonsyndromic hearing loss 29",
            "description": ""
        },
        {
            "id": "MONDO:0013537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013537",
            "name": "CLDN14 autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0013537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013537",
            "name": "DFNB29",
            "description": ""
        },
        {
            "id": "MONDO:0013537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013537",
            "name": "autosomal recessive deafness 29",
            "description": ""
        },
        {
            "id": "MONDO:0013537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013537",
            "name": "autosomal recessive nonsyndromic deafness 29",
            "description": ""
        },
        {
            "id": "MONDO:0013537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013537",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in CLDN14",
            "description": ""
        },
        {
            "id": "MONDO:0013537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013537",
            "name": "autosomal recessive nonsyndromic deafness type 29",
            "description": ""
        },
        {
            "id": "MONDO:0013537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013537",
            "name": "deafness, autosomal recessive 29",
            "description": ""
        },
        {
            "id": "MONDO:0013537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013537",
            "name": "deafness, autosomal recessive type 29",
            "description": ""
        },
        {
            "id": "MIM:614035",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614035",
            "name": "Deafness, autosomal recessive, 29",
            "description": "Deafness, autosomal recessive, 29"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110487"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110487",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110487",
            "categories": []
        },
        {
            "id": "MONDO:0013537",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013537",
            "categories": []
        },
        {
            "id": "MIM:614035",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614035",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BHN3-1",
            "uniprot_ac": "A0A8M2BHN3",
            "uniprot_id": "A0A8M2BHN3_DANRE",
            "refseq_ac": "NP_001004559",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Claudin-2",
                    "type": "synonym"
                },
                {
                    "name": "claudin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cldn2",
                    "type": "recommended"
                },
                {
                    "name": "cldn2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92260",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BHN3-1",
            "evidence": [
                {
                    "id": "0110487",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110487"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z0S3-1",
            "uniprot_ac": "Q9Z0S3",
            "uniprot_id": "CLD14_MOUSE",
            "refseq_ac": "NP_001159397",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Claudin-14",
                    "type": "recommended"
                },
                {
                    "name": "claudin-14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cldn14",
                    "type": "recommended"
                },
                {
                    "name": "Cldn14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0S3-1",
            "evidence": [
                {
                    "id": "0110487",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110487"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95500-1",
            "uniprot_ac": "O95500",
            "uniprot_id": "CLD14_HUMAN",
            "refseq_ac": "NP_001139549",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Claudin-14",
                    "type": "recommended"
                },
                {
                    "name": "claudin-14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLDN14",
                    "type": "recommended"
                },
                {
                    "name": "CLDN14",
                    "type": "synonym"
                },
                {
                    "name": "DFNB29",
                    "type": "synonym"
                },
                {
                    "name": "PRO1571",
                    "type": "synonym"
                }
            ],
            "record_id": "O95500-1",
            "evidence": [
                {
                    "id": "614035",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614035"
                },
                {
                    "id": "0110487",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110487"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5BJQ1-1",
            "uniprot_ac": "Q5BJQ1",
            "uniprot_id": "Q5BJQ1_RAT",
            "refseq_ac": "NP_001013447",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Claudin",
                    "type": "recommended"
                },
                {
                    "name": "claudin-14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cldn14",
                    "type": "recommended"
                },
                {
                    "name": "Cldn14",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5BJQ1-1",
            "evidence": [
                {
                    "id": "0110487",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110487"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03343-1",
            "uniprot_ac": "Q03343",
            "uniprot_id": "ADCY6_RAT",
            "refseq_ac": "NP_036953",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenylate cyclase type 6",
                    "type": "recommended"
                },
                {
                    "name": "4.6.1.1",
                    "type": "synonym"
                },
                {
                    "name": "AC6",
                    "type": "synonym"
                },
                {
                    "name": "ACVI",
                    "type": "synonym"
                },
                {
                    "name": "ATP pyrophosphate-lyase 6",
                    "type": "synonym"
                },
                {
                    "name": "Adenylate cyclase type VI",
                    "type": "synonym"
                },
                {
                    "name": "Adenylyl cyclase 6",
                    "type": "synonym"
                },
                {
                    "name": "Ca(2+)-inhibitable adenylyl cyclase",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase type 6 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase type 6",
                    "type": "synonym"
                },
                {
                    "name": "adenylate cyclase type VI",
                    "type": "synonym"
                },
                {
                    "name": "adenylyl cyclase 6",
                    "type": "synonym"
                },
                {
                    "name": "ca(2+)-inhibitable adenylyl cyclase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adcy6",
                    "type": "recommended"
                },
                {
                    "name": "AC6",
                    "type": "synonym"
                },
                {
                    "name": "ACVI",
                    "type": "synonym"
                },
                {
                    "name": "ADCYB",
                    "type": "synonym"
                },
                {
                    "name": "Adcy6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03343-1",
            "evidence": [
                {
                    "id": "0110487",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110487"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110487"
}