{
    "disease_id": "DOID:0080262",
    "recommended_name": {
        "id": "DOID:0080262",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080262",
        "name": "autosomal recessive nonsyndromic deafness 107",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in compound heterozygous mutation in the WBP2 gene on chromosome 17q25."
    },
    "synonyms": [
        {
            "id": "MONDO:0033199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033199",
            "name": "hearing loss, autosomal recessive 107",
            "description": ""
        },
        {
            "id": "MONDO:0033199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033199",
            "name": "DFNB107",
            "description": ""
        },
        {
            "id": "MONDO:0033199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033199",
            "name": "autosomal recessive nonsyndromic deafness 107",
            "description": ""
        },
        {
            "id": "MONDO:0033199",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033199",
            "name": "deafness, autosomal recessive 107",
            "description": ""
        },
        {
            "id": "MIM:617639",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617639",
            "name": "Deafness, autosomal recessive, 107",
            "description": "Deafness, autosomal recessive, 107"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080262"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080262",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080262",
            "categories": []
        },
        {
            "id": "MONDO:0033199",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033199",
            "categories": []
        },
        {
            "id": "MIM:617639",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617639",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QJX3-1",
            "uniprot_ac": "F1QJX3",
            "uniprot_id": "F1QJX3_DANRE",
            "refseq_ac": "NP_001018380",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "WW domain-binding protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wbp2",
                    "type": "recommended"
                },
                {
                    "name": "wbp2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109985",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QJX3-1",
            "evidence": [
                {
                    "id": "0080262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97765-1",
            "uniprot_ac": "P97765",
            "uniprot_id": "WBP2_MOUSE",
            "refseq_ac": "NP_058548",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "WW domain-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "WBP-2",
                    "type": "synonym"
                },
                {
                    "name": "WW domain-binding protein 2 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wbp2",
                    "type": "recommended"
                },
                {
                    "name": "Wbp2",
                    "type": "synonym"
                }
            ],
            "record_id": "P97765-1",
            "evidence": [
                {
                    "id": "0080262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q969T9-1",
            "uniprot_ac": "Q969T9",
            "uniprot_id": "WBP2_HUMAN",
            "refseq_ac": "NP_001317428",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "WW domain-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "WBP-2",
                    "type": "synonym"
                },
                {
                    "name": "WW domain-binding protein 2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "WBP2",
                    "type": "recommended"
                },
                {
                    "name": "DFNB107",
                    "type": "synonym"
                },
                {
                    "name": "GRAMD6",
                    "type": "synonym"
                },
                {
                    "name": "WBP-2",
                    "type": "synonym"
                },
                {
                    "name": "WBP2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q969T9-1",
            "evidence": [
                {
                    "id": "617639",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617639"
                },
                {
                    "id": "0080262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R478-1",
            "uniprot_ac": "Q8R478",
            "uniprot_id": "WBP2_RAT",
            "refseq_ac": "NP_620431",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "WW domain-binding protein 2",
                    "type": "recommended"
                },
                {
                    "name": "WBP-2",
                    "type": "synonym"
                },
                {
                    "name": "WW domain-binding protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wbp2",
                    "type": "recommended"
                },
                {
                    "name": "Wbp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R478-1",
            "evidence": [
                {
                    "id": "0080262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VU19-1",
            "uniprot_ac": "Q9VU19",
            "uniprot_id": "Q9VU19_DROME",
            "refseq_ac": "NP_648607",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11009-PE",
                    "type": "synonym"
                },
                {
                    "name": "WW domain binding protein 2, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "Wbp2 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Wbp2-PE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Wbp2",
                    "type": "recommended"
                },
                {
                    "name": "CG11009",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11009",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11009",
                    "type": "synonym"
                },
                {
                    "name": "WWBP",
                    "type": "synonym"
                },
                {
                    "name": "Wbp2",
                    "type": "synonym"
                },
                {
                    "name": "wbp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VU19-1",
            "evidence": [
                {
                    "id": "0080262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080262"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080262"
}