{
    "disease_id": "DOID:0110567",
    "recommended_name": {
        "id": "DOID:0110567",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110567",
        "name": "autosomal dominant nonsyndromic deafness 41",
        "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110567",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110567",
            "name": "DFNA41",
            "description": ""
        },
        {
            "id": "DOID:0110567",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110567",
            "name": "autosomal dominant deafness 41",
            "description": ""
        },
        {
            "id": "MONDO:0011994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011994",
            "name": "autosomal dominant nonsyndromic hearing loss 41",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene."
        },
        {
            "id": "MONDO:0011994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011994",
            "name": "DFNA41",
            "description": ""
        },
        {
            "id": "MONDO:0011994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011994",
            "name": "P2RX2 autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0011994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011994",
            "name": "autosomal dominant deafness 41",
            "description": ""
        },
        {
            "id": "MONDO:0011994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011994",
            "name": "autosomal dominant nonsyndromic deafness 41",
            "description": ""
        },
        {
            "id": "MONDO:0011994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011994",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in P2RX2",
            "description": ""
        },
        {
            "id": "MONDO:0011994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011994",
            "name": "autosomal dominant nonsyndromic deafness type 41",
            "description": ""
        },
        {
            "id": "MONDO:0011994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011994",
            "name": "deafness, autosomal dominant 41",
            "description": ""
        },
        {
            "id": "MONDO:0011994",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011994",
            "name": "deafness, autosomal dominant type 41",
            "description": ""
        },
        {
            "id": "MIM:608224",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608224",
            "name": "Deafness, autosomal dominant, 41",
            "description": "Deafness, autosomal dominant, 41"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110567"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110567",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110567",
            "categories": []
        },
        {
            "id": "MONDO:0011994",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011994",
            "categories": []
        },
        {
            "id": "MIM:608224",
            "database": "MIM",
            "url": "https://www.omim.org/entry/608224",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K3P1-1",
            "uniprot_ac": "Q8K3P1",
            "uniprot_id": "P2RX2_MOUSE",
            "refseq_ac": "NP_001158305",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "P2X purinoceptor 2",
                    "type": "recommended"
                },
                {
                    "name": "ATP receptor",
                    "type": "synonym"
                },
                {
                    "name": "P2X purinoceptor 2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "P2X purinoceptor 2",
                    "type": "synonym"
                },
                {
                    "name": "P2X2",
                    "type": "synonym"
                },
                {
                    "name": "Purinergic receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "P2rx2",
                    "type": "recommended"
                },
                {
                    "name": "P2X2a",
                    "type": "synonym"
                },
                {
                    "name": "P2rx2",
                    "type": "synonym"
                },
                {
                    "name": "P2x2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K3P1-1",
            "evidence": [
                {
                    "id": "0110567",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110567"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UBL9-1",
            "uniprot_ac": "Q9UBL9",
            "uniprot_id": "P2RX2_HUMAN",
            "refseq_ac": "NP_001269093",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "P2X purinoceptor 2",
                    "type": "recommended"
                },
                {
                    "name": "ATP receptor",
                    "type": "synonym"
                },
                {
                    "name": "P2X Receptor, subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "P2X purinoceptor 2 isoform J",
                    "type": "synonym"
                },
                {
                    "name": "P2X purinoceptor 2",
                    "type": "synonym"
                },
                {
                    "name": "P2X2",
                    "type": "synonym"
                },
                {
                    "name": "Purinergic receptor",
                    "type": "synonym"
                },
                {
                    "name": "purinergic receptor P2X, ligand gated ion channel, 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "P2RX2",
                    "type": "recommended"
                },
                {
                    "name": "DFNA41",
                    "type": "synonym"
                },
                {
                    "name": "P2RX2",
                    "type": "synonym"
                },
                {
                    "name": "P2X2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UBL9-1",
            "evidence": [
                {
                    "id": "608224",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/608224"
                },
                {
                    "id": "0110567",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110567"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49653-1",
            "uniprot_ac": "P49653",
            "uniprot_id": "P2RX2_RAT",
            "refseq_ac": "NP_446108",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "P2X purinoceptor 2",
                    "type": "recommended"
                },
                {
                    "name": "ATP receptor",
                    "type": "synonym"
                },
                {
                    "name": "P2X purinoceptor 2",
                    "type": "synonym"
                },
                {
                    "name": "P2X2",
                    "type": "synonym"
                },
                {
                    "name": "Purinergic receptor",
                    "type": "synonym"
                },
                {
                    "name": "purinergic receptor P2X, ligand-gated ion channel, 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "P2rx2",
                    "type": "recommended"
                },
                {
                    "name": "P2X2",
                    "type": "synonym"
                },
                {
                    "name": "P2rx2",
                    "type": "synonym"
                }
            ],
            "record_id": "P49653-1",
            "evidence": [
                {
                    "id": "0110567",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110567"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110567"
}