{
    "disease_id": "DOID:0110481",
    "recommended_name": {
        "id": "DOID:0110481",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110481",
        "name": "autosomal recessive nonsyndromic deafness 23",
        "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 PCDH15 gene on chromosome 10q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110481",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110481",
            "name": "DFNB23",
            "description": ""
        },
        {
            "id": "DOID:0110481",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110481",
            "name": "autosomal recessive deafness 23",
            "description": ""
        },
        {
            "id": "MONDO:0012293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012293",
            "name": "autosomal recessive nonsyndromic hearing loss 23",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene."
        },
        {
            "id": "MONDO:0012293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012293",
            "name": "DFNB23",
            "description": ""
        },
        {
            "id": "MONDO:0012293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012293",
            "name": "PCDH15 autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0012293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012293",
            "name": "autosomal recessive deafness 23",
            "description": ""
        },
        {
            "id": "MONDO:0012293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012293",
            "name": "autosomal recessive nonsyndromic deafness 23",
            "description": ""
        },
        {
            "id": "MONDO:0012293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012293",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in PCDH15",
            "description": ""
        },
        {
            "id": "MONDO:0012293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012293",
            "name": "autosomal recessive nonsyndromic deafness type 23",
            "description": ""
        },
        {
            "id": "MONDO:0012293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012293",
            "name": "deafness, autosomal recessive 23",
            "description": ""
        },
        {
            "id": "MONDO:0012293",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012293",
            "name": "deafness, autosomal recessive type 23",
            "description": ""
        },
        {
            "id": "MIM:609533",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609533",
            "name": "Deafness, autosomal recessive, 23",
            "description": "Deafness, autosomal recessive, 23"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110481"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110481",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110481",
            "categories": []
        },
        {
            "id": "MONDO:0012293",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012293",
            "categories": []
        },
        {
            "id": "MIM:609533",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609533",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99PJ1-1",
            "uniprot_ac": "Q99PJ1",
            "uniprot_id": "PCD15_MOUSE",
            "refseq_ac": "NP_001136207",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin-15",
                    "type": "recommended"
                },
                {
                    "name": "Ames waltzer",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin 15 CD2",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin-15 isoform CD1-2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pcdh15",
                    "type": "recommended"
                },
                {
                    "name": "Gm9815",
                    "type": "synonym"
                },
                {
                    "name": "Pcdh15",
                    "type": "synonym"
                },
                {
                    "name": "Ush1f",
                    "type": "synonym"
                },
                {
                    "name": "av",
                    "type": "synonym"
                },
                {
                    "name": "nmf19",
                    "type": "synonym"
                },
                {
                    "name": "roda",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99PJ1-1",
            "evidence": [
                {
                    "id": "0110481",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110481"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96QU1-1",
            "uniprot_ac": "Q96QU1",
            "uniprot_id": "PCD15_HUMAN",
            "refseq_ac": "NP_149045",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin-15",
                    "type": "recommended"
                },
                {
                    "name": "cadherin-related family member 15",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin-15 isoform CD1-4 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PCDH15",
                    "type": "recommended"
                },
                {
                    "name": "CDHR15",
                    "type": "synonym"
                },
                {
                    "name": "DFNB23",
                    "type": "synonym"
                },
                {
                    "name": "PCDH15",
                    "type": "synonym"
                },
                {
                    "name": "USH1F",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96QU1-1",
            "evidence": [
                {
                    "id": "609533",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609533"
                },
                {
                    "id": "0110481",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110481"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6B3E0-1",
            "uniprot_ac": "A0A8I6B3E0",
            "uniprot_id": "A0A8I6B3E0_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin-15",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Pcdh15",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6B3E0-1",
            "evidence": [
                {
                    "id": "0110481",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110481"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAF5-1",
            "uniprot_ac": "Q9VAF5",
            "uniprot_id": "CAD99_DROME",
            "refseq_ac": "NP_001189311",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-99C",
                    "type": "recommended"
                },
                {
                    "name": "CG31009-PB",
                    "type": "synonym"
                },
                {
                    "name": "Cad99C-PB",
                    "type": "synonym"
                },
                {
                    "name": "Cadherin99C",
                    "type": "synonym"
                },
                {
                    "name": "cadherin 99C, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cad99C",
                    "type": "recommended"
                },
                {
                    "name": "CA-10",
                    "type": "synonym"
                },
                {
                    "name": "CG15511",
                    "type": "synonym"
                },
                {
                    "name": "CG310034",
                    "type": "synonym"
                },
                {
                    "name": "CG31009",
                    "type": "synonym"
                },
                {
                    "name": "CG7805",
                    "type": "synonym"
                },
                {
                    "name": "CT35624",
                    "type": "synonym"
                },
                {
                    "name": "CT4930",
                    "type": "synonym"
                },
                {
                    "name": "Cad99C",
                    "type": "synonym"
                },
                {
                    "name": "Cad99c",
                    "type": "synonym"
                },
                {
                    "name": "DCad99C",
                    "type": "synonym"
                },
                {
                    "name": "Dm Cad99C",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31009",
                    "type": "synonym"
                },
                {
                    "name": "cad99C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAF5-1",
            "evidence": [
                {
                    "id": "0110481",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110481"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110481"
}