{
    "disease_id": "DOID:0110511",
    "recommended_name": {
        "id": "DOID:0110511",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110511",
        "name": "autosomal recessive nonsyndromic deafness 59",
        "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 DFNB59 gene on chromosome 2q31."
    },
    "synonyms": [
        {
            "id": "DOID:0110511",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110511",
            "name": "DFNB59",
            "description": ""
        },
        {
            "id": "DOID:0110511",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110511",
            "name": "autosomal recessive deafness 59",
            "description": ""
        },
        {
            "id": "MONDO:0012445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012445",
            "name": "autosomal recessive nonsyndromic hearing loss 59",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene."
        },
        {
            "id": "MONDO:0012445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012445",
            "name": "autosomal recessive nonsyndromic hearing loss 59",
            "description": ""
        },
        {
            "id": "MONDO:0012445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012445",
            "name": "DFNB59",
            "description": ""
        },
        {
            "id": "MONDO:0012445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012445",
            "name": "PJVK autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0012445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012445",
            "name": "autosomal recessive deafness 59",
            "description": ""
        },
        {
            "id": "MONDO:0012445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012445",
            "name": "autosomal recessive nonsyndromic deafness 59",
            "description": ""
        },
        {
            "id": "MONDO:0012445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012445",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in PJVK",
            "description": ""
        },
        {
            "id": "MONDO:0012445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012445",
            "name": "autosomal recessive nonsyndromic deafness type 59",
            "description": ""
        },
        {
            "id": "MONDO:0012445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012445",
            "name": "deafness, autosomal recessive 59",
            "description": ""
        },
        {
            "id": "MONDO:0012445",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012445",
            "name": "deafness, autosomal recessive type 59",
            "description": ""
        },
        {
            "id": "MIM:610220",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610220",
            "name": "Deafness, autosomal recessive, 59",
            "description": "Deafness, autosomal recessive, 59"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110511"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110511",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110511",
            "categories": []
        },
        {
            "id": "MONDO:0012445",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012445",
            "categories": []
        },
        {
            "id": "MIM:610220",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610220",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QAQ7-1",
            "uniprot_ac": "A0A8M9QAQ7",
            "uniprot_id": "A0A8M9QAQ7_DANRE",
            "refseq_ac": "XP_021332701",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pejvakin",
                    "type": "synonym"
                },
                {
                    "name": "pejvakin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pjvk",
                    "type": "recommended"
                },
                {
                    "name": "pjvk",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QAQ7-1",
            "evidence": [
                {
                    "id": "0110511",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110511"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0ZLH2-1",
            "uniprot_ac": "Q0ZLH2",
            "uniprot_id": "PJVK_MOUSE",
            "refseq_ac": "NP_001074180",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pejvakin",
                    "type": "recommended"
                },
                {
                    "name": "Protein sirtaki",
                    "type": "synonym"
                },
                {
                    "name": "autosomal recessive deafness type 59 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "deafness, autosomal recessive 59",
                    "type": "synonym"
                },
                {
                    "name": "pejvakin",
                    "type": "synonym"
                },
                {
                    "name": "protein sirtaki",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pjvk",
                    "type": "recommended"
                },
                {
                    "name": "Dfnb59",
                    "type": "synonym"
                },
                {
                    "name": "Gm1001",
                    "type": "synonym"
                },
                {
                    "name": "Pjvk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0ZLH2-1",
            "evidence": [
                {
                    "id": "0110511",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110511"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0ZLH3-1",
            "uniprot_ac": "Q0ZLH3",
            "uniprot_id": "PJVK_HUMAN",
            "refseq_ac": "NP_001036167",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pejvakin",
                    "type": "recommended"
                },
                {
                    "name": "Autosomal recessive deafness type 59 protein",
                    "type": "synonym"
                },
                {
                    "name": "autosomal recessive deafness type 59 protein",
                    "type": "synonym"
                },
                {
                    "name": "pejvakin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PJVK",
                    "type": "recommended"
                },
                {
                    "name": "DFNB59",
                    "type": "synonym"
                },
                {
                    "name": "PJVK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0ZLH3-1",
            "evidence": [
                {
                    "id": "610220",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610220"
                },
                {
                    "id": "0110511",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110511"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZSE6-1",
            "uniprot_ac": "D3ZSE6",
            "uniprot_id": "D3ZSE6_RAT",
            "refseq_ac": "XP_038962363",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pejvakin",
                    "type": "synonym"
                },
                {
                    "name": "pejvakin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pjvk",
                    "type": "recommended"
                },
                {
                    "name": "Pjvk",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZSE6-1",
            "evidence": [
                {
                    "id": "0110511",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110511"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110511"
}