{
    "disease_id": "DOID:0112162",
    "recommended_name": {
        "id": "DOID:0112162",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112162",
        "name": "autosomal recessive nonsyndromic deafness 116",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112162",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112162",
            "name": "DFNB116",
            "description": ""
        },
        {
            "id": "MONDO:0033670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033670",
            "name": "hearing loss, autosomal recessive 116",
            "description": ""
        },
        {
            "id": "MONDO:0033670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033670",
            "name": "DFNB116",
            "description": ""
        },
        {
            "id": "MONDO:0033670",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033670",
            "name": "deafness, autosomal recessive 116",
            "description": ""
        },
        {
            "id": "MIM:619093",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619093",
            "name": "Deafness, autosomal recessive, 116",
            "description": "Deafness, autosomal recessive, 116"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112162"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112162",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112162",
            "categories": []
        },
        {
            "id": "MONDO:0033670",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033670",
            "categories": []
        },
        {
            "id": "MIM:619093",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619093",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z0S7-1",
            "uniprot_ac": "Q9Z0S7",
            "uniprot_id": "CLD9_MOUSE",
            "refseq_ac": "NP_064689",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Claudin-9",
                    "type": "recommended"
                },
                {
                    "name": "claudin-9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cldn9",
                    "type": "recommended"
                },
                {
                    "name": "Cldn9",
                    "type": "synonym"
                },
                {
                    "name": "nmf329",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0S7-1",
            "evidence": [
                {
                    "id": "0112162",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112162"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95484-1",
            "uniprot_ac": "O95484",
            "uniprot_id": "CLD9_HUMAN",
            "refseq_ac": "NP_066192",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Claudin-9",
                    "type": "recommended"
                },
                {
                    "name": "claudin-9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLDN9",
                    "type": "recommended"
                },
                {
                    "name": "CLDN9",
                    "type": "synonym"
                },
                {
                    "name": "DFNB116",
                    "type": "synonym"
                }
            ],
            "record_id": "O95484-1",
            "evidence": [
                {
                    "id": "619093",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619093"
                },
                {
                    "id": "0112162",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112162"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LUX3-1",
            "uniprot_ac": "A0ABK0LUX3",
            "uniprot_id": "A0ABK0LUX3_RAT",
            "refseq_ac": "NP_001011889",
            "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-9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cldn9",
                    "type": "recommended"
                },
                {
                    "name": "Cldn9",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LUX3-1",
            "evidence": [
                {
                    "id": "0112162",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112162"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28647-1",
            "uniprot_ac": "P28647",
            "uniprot_id": "AA3R_RAT",
            "refseq_ac": "NP_001289679",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Adenosine receptor A3",
                    "type": "recommended"
                },
                {
                    "name": "Adenosine receptor A3",
                    "type": "synonym"
                },
                {
                    "name": "TGPCR1",
                    "type": "synonym"
                },
                {
                    "name": "adenosine receptor A3 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "adenosine receptor A3-like",
                    "type": "synonym"
                },
                {
                    "name": "putative G-protein coupled receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adora3",
                    "type": "recommended"
                },
                {
                    "name": "A3",
                    "type": "synonym"
                },
                {
                    "name": "Adora3",
                    "type": "synonym"
                },
                {
                    "name": "TGPCR1",
                    "type": "synonym"
                }
            ],
            "record_id": "P28647-1",
            "evidence": [
                {
                    "id": "0112162",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112162"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112162"
}