{
    "disease_id": "DOID:0110545",
    "recommended_name": {
        "id": "DOID:0110545",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110545",
        "name": "autosomal dominant nonsyndromic deafness 13",
        "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110545",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110545",
            "name": "DFNA13",
            "description": ""
        },
        {
            "id": "DOID:0110545",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110545",
            "name": "autosomal dominant deafness 13",
            "description": ""
        },
        {
            "id": "MONDO:0011159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011159",
            "name": "autosomal dominant nonsyndromic hearing loss 13",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene."
        },
        {
            "id": "MONDO:0011159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011159",
            "name": "COL11A2 autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0011159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011159",
            "name": "DFNA13",
            "description": ""
        },
        {
            "id": "MONDO:0011159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011159",
            "name": "autosomal dominant deafness 13",
            "description": ""
        },
        {
            "id": "MONDO:0011159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011159",
            "name": "autosomal dominant nonsyndromic deafness 13",
            "description": ""
        },
        {
            "id": "MONDO:0011159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011159",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in COL11A2",
            "description": ""
        },
        {
            "id": "MONDO:0011159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011159",
            "name": "autosomal dominant nonsyndromic deafness type 13",
            "description": ""
        },
        {
            "id": "MONDO:0011159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011159",
            "name": "deafness, autosomal dominant 13",
            "description": ""
        },
        {
            "id": "MONDO:0011159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011159",
            "name": "deafness, autosomal dominant type 13",
            "description": ""
        },
        {
            "id": "MIM:601868",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601868",
            "name": "Deafness, autosomal dominant, 13",
            "description": "Deafness, autosomal dominant, 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110545"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110545",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110545",
            "categories": []
        },
        {
            "id": "MONDO:0011159",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011159",
            "categories": []
        },
        {
            "id": "MIM:601868",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601868",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32T5W0-1",
            "uniprot_ac": "A0AB32T5W0",
            "uniprot_id": "A0AB32T5W0_DANRE",
            "refseq_ac": "XP_068071259",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(XI) chain isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(XI) chain isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "col11a2",
                    "type": "recommended"
                },
                {
                    "name": "col11a1",
                    "type": "synonym"
                },
                {
                    "name": "col11a2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T5W0-1",
            "evidence": [
                {
                    "id": "0110545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110545"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64739-2",
            "uniprot_ac": "Q64739",
            "uniprot_id": "COBA2_MOUSE",
            "refseq_ac": "NP_001304651",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(XI) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen alpha-2(XI) chain isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(XI) chain",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type XI, alpha 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col11a2",
                    "type": "recommended"
                },
                {
                    "name": "Col11a2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64739-2",
            "evidence": [
                {
                    "id": "0110545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110545"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13942-1",
            "uniprot_ac": "P13942",
            "uniprot_id": "COBA2_HUMAN",
            "refseq_ac": "NP_001157243",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(XI) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen alpha-2(XI) chain isoform 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(XI) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type XI, alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "pro-a2 chain of collagen type XI",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL11A2",
                    "type": "recommended"
                },
                {
                    "name": "COL11A2",
                    "type": "synonym"
                },
                {
                    "name": "DFNA13",
                    "type": "synonym"
                },
                {
                    "name": "DFNB53",
                    "type": "synonym"
                },
                {
                    "name": "FBCG2",
                    "type": "synonym"
                },
                {
                    "name": "HKE5",
                    "type": "synonym"
                },
                {
                    "name": "OSMEDA",
                    "type": "synonym"
                },
                {
                    "name": "OSMEDB",
                    "type": "synonym"
                },
                {
                    "name": "PARP",
                    "type": "synonym"
                },
                {
                    "name": "STL3",
                    "type": "synonym"
                }
            ],
            "record_id": "P13942-1",
            "evidence": [
                {
                    "id": "601868",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601868"
                },
                {
                    "id": "0110545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110545"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K069-1",
            "uniprot_ac": "A0A0G2K069",
            "uniprot_id": "A0A0G2K069_RAT",
            "refseq_ac": "NP_001388231",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(XI) chain",
                    "type": "recommended"
                },
                {
                    "name": "collagen alpha-2(XI) chain isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(XI) chain-like",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type XI, alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "procollagen, type XI, alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "type XI collagen alpha2 chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Col11a2",
                    "type": "recommended"
                },
                {
                    "name": "Col11a2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K069-1",
            "evidence": [
                {
                    "id": "0110545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110545"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63678-1",
            "uniprot_ac": "Q63678",
            "uniprot_id": "ZA2G_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc-alpha-2-glycoprotein",
                    "type": "recommended"
                },
                {
                    "name": "Zn-alpha-2-GP",
                    "type": "synonym"
                },
                {
                    "name": "Zn-alpha-2-glycoprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Azgp1",
                    "type": "recommended"
                }
            ],
            "record_id": "Q63678-1",
            "evidence": [
                {
                    "id": "0110545",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110545"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110545"
}