{
    "disease_id": "DOID:0070606",
    "recommended_name": {
        "id": "DOID:0070606",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070606",
        "name": "autosomal dominant nonsyndromic deafness 87",
        "description": "An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070606",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070606",
            "name": "DFNA87",
            "description": ""
        },
        {
            "id": "DOID:0070606",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070606",
            "name": "autosomal dominant deafness 87",
            "description": ""
        },
        {
            "id": "MONDO:0859525",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859525",
            "name": "hearing loss, autosomal dominant 87",
            "description": ""
        },
        {
            "id": "MIM:620281",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620281",
            "name": "Deafness, autosomal dominant, 87",
            "description": "Deafness, autosomal dominant, 87"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070606"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070606",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070606",
            "categories": []
        },
        {
            "id": "MONDO:0859525",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859525",
            "categories": []
        },
        {
            "id": "MIM:620281",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620281",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q49GP3-1",
            "uniprot_ac": "Q49GP3",
            "uniprot_id": "PI4KB_DANRE",
            "refseq_ac": "NP_001030149",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 4-kinase beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.67",
                    "type": "synonym"
                },
                {
                    "name": "PI4K-beta",
                    "type": "synonym"
                },
                {
                    "name": "PI4KIII-beta",
                    "type": "synonym"
                },
                {
                    "name": "PI4Kbeta",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns 4-kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "catalytic phosphatidylinositol 4-kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-kinase III beta",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-kinase, catalytic, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns 4-kinase beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pi4kb",
                    "type": "recommended"
                },
                {
                    "name": "pi4kb",
                    "type": "synonym"
                },
                {
                    "name": "pik4cb",
                    "type": "synonym"
                },
                {
                    "name": "zgc:152715",
                    "type": "synonym"
                }
            ],
            "record_id": "Q49GP3-1",
            "evidence": [
                {
                    "id": "0070606",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070606"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BKC8-1",
            "uniprot_ac": "Q8BKC8",
            "uniprot_id": "PI4KB_MOUSE",
            "refseq_ac": "NP_001280644",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 4-kinase beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.67",
                    "type": "synonym"
                },
                {
                    "name": "PI4K-beta",
                    "type": "synonym"
                },
                {
                    "name": "PI4Kbeta",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns 4-kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-kinase beta isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-kinase, catalytic, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns 4-kinase beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pi4kb",
                    "type": "recommended"
                },
                {
                    "name": "ESTM41",
                    "type": "synonym"
                },
                {
                    "name": "PI4K-beta",
                    "type": "synonym"
                },
                {
                    "name": "PI4Kbeta",
                    "type": "synonym"
                },
                {
                    "name": "Pi4kb",
                    "type": "synonym"
                },
                {
                    "name": "Pik4cb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BKC8-1",
            "evidence": [
                {
                    "id": "0070606",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070606"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UBF8-1",
            "uniprot_ac": "Q9UBF8",
            "uniprot_id": "PI4KB_HUMAN",
            "refseq_ac": "NP_001185702",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 4-kinase beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.67",
                    "type": "synonym"
                },
                {
                    "name": "NPIK",
                    "type": "synonym"
                },
                {
                    "name": "PI4K-beta",
                    "type": "synonym"
                },
                {
                    "name": "PI4K92",
                    "type": "synonym"
                },
                {
                    "name": "PI4KIII",
                    "type": "synonym"
                },
                {
                    "name": "PI4Kbeta",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns 4-kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-kinase beta isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-kinase, catalytic, beta",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-kinase, wortmannin-sensitive",
                    "type": "synonym"
                },
                {
                    "name": "type III phosphatidylinositol 4-kinase beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PI4KB",
                    "type": "recommended"
                },
                {
                    "name": "DFNA87",
                    "type": "synonym"
                },
                {
                    "name": "NPIK",
                    "type": "synonym"
                },
                {
                    "name": "PI4K-BETA",
                    "type": "synonym"
                },
                {
                    "name": "PI4K92",
                    "type": "synonym"
                },
                {
                    "name": "PI4KBETA",
                    "type": "synonym"
                },
                {
                    "name": "PI4KB",
                    "type": "synonym"
                },
                {
                    "name": "PI4KIIIBETA",
                    "type": "synonym"
                },
                {
                    "name": "PI4KIII",
                    "type": "synonym"
                },
                {
                    "name": "PIK4CB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UBF8-1",
            "evidence": [
                {
                    "id": "620281",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620281"
                },
                {
                    "id": "0070606",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070606"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39104-1",
            "uniprot_ac": "P39104",
            "uniprot_id": "PIK1_YEAST",
            "refseq_ac": "NP_014132",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 4-kinase PIK1",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 4-kinase",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.67",
                    "type": "synonym"
                },
                {
                    "name": "PI4-kinase",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns-4-kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIK1",
                    "type": "recommended"
                },
                {
                    "name": "N0795",
                    "type": "synonym"
                },
                {
                    "name": "PIK120",
                    "type": "synonym"
                },
                {
                    "name": "PIK1",
                    "type": "synonym"
                },
                {
                    "name": "PIK41",
                    "type": "synonym"
                }
            ],
            "record_id": "P39104-1",
            "evidence": [
                {
                    "id": "0070606",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070606"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZHW4-1",
            "uniprot_ac": "D3ZHW4",
            "uniprot_id": "D3ZHW4_RAT",
            "refseq_ac": "NP_001000061",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Olfactory receptor",
                    "type": "recommended"
                },
                {
                    "name": "olfactory receptor 889",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor Olr889",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor gene Olr889",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Or6c88",
                    "type": "recommended"
                },
                {
                    "name": "Olr889",
                    "type": "synonym"
                },
                {
                    "name": "Or6c88",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZHW4-1",
            "evidence": [
                {
                    "id": "0070606",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070606"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O08561-1",
            "uniprot_ac": "O08561",
            "uniprot_id": "PI4KB_RAT",
            "refseq_ac": "NP_112345",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 4-kinase beta",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.67",
                    "type": "synonym"
                },
                {
                    "name": "PI4K-beta",
                    "type": "synonym"
                },
                {
                    "name": "PI4Kbeta",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns 4-kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "catalytic phosphatidylinositol 4-kinase beta",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-kinase beta isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 4-kinase, catalytic, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns 4-kinase beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pi4kb",
                    "type": "recommended"
                },
                {
                    "name": "Pi4kb",
                    "type": "synonym"
                },
                {
                    "name": "Pik4cb",
                    "type": "synonym"
                }
            ],
            "record_id": "O08561-1",
            "evidence": [
                {
                    "id": "0070606",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070606"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A4D6K881-1",
            "uniprot_ac": "A0A4D6K881",
            "uniprot_id": "A0A4D6K881_DROME",
            "refseq_ac": "NP_001356971",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 4-kinase beta",
                    "type": "recommended"
                },
                {
                    "name": "CG7004-PE",
                    "type": "synonym"
                },
                {
                    "name": "Four-wheel drive",
                    "type": "synonym"
                },
                {
                    "name": "four wheel drive, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "four wheel drive",
                    "type": "synonym"
                },
                {
                    "name": "fwd-PE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fwd",
                    "type": "recommended"
                },
                {
                    "name": "CG7004",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7004",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7004",
                    "type": "synonym"
                },
                {
                    "name": "Fwd",
                    "type": "synonym"
                },
                {
                    "name": "PI4K3B",
                    "type": "synonym"
                },
                {
                    "name": "PI4KIIIbeta",
                    "type": "synonym"
                },
                {
                    "name": "PI4K",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.259",
                    "type": "synonym"
                },
                {
                    "name": "fwd",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A4D6K881-1",
            "evidence": [
                {
                    "id": "0070606",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070606"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070606"
}