{
    "disease_id": "DOID:0110542",
    "recommended_name": {
        "id": "DOID:0110542",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110542",
        "name": "autosomal dominant nonsyndromic deafness 10",
        "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23."
    },
    "synonyms": [
        {
            "id": "DOID:0110542",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110542",
            "name": "DFNA10",
            "description": ""
        },
        {
            "id": "DOID:0110542",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110542",
            "name": "autosomal dominant deafness 10",
            "description": ""
        },
        {
            "id": "MONDO:0011031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011031",
            "name": "autosomal dominant nonsyndromic hearing loss 10",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene."
        },
        {
            "id": "MONDO:0011031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011031",
            "name": "autosomal dominant nonsyndromic hearing loss 10",
            "description": ""
        },
        {
            "id": "MONDO:0011031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011031",
            "name": "DFNA10",
            "description": ""
        },
        {
            "id": "MONDO:0011031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011031",
            "name": "EYA4 autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0011031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011031",
            "name": "autosomal dominant deafness 10",
            "description": ""
        },
        {
            "id": "MONDO:0011031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011031",
            "name": "autosomal dominant nonsyndromic deafness 10",
            "description": ""
        },
        {
            "id": "MONDO:0011031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011031",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in EYA4",
            "description": ""
        },
        {
            "id": "MONDO:0011031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011031",
            "name": "autosomal dominant nonsyndromic deafness type 10",
            "description": ""
        },
        {
            "id": "MONDO:0011031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011031",
            "name": "deafness, autosomal dominant 10",
            "description": ""
        },
        {
            "id": "MONDO:0011031",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011031",
            "name": "deafness, autosomal dominant type 10",
            "description": ""
        },
        {
            "id": "MIM:601316",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601316",
            "name": "Deafness, autosomal dominant, 10",
            "description": "Deafness, autosomal dominant, 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110542"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110542",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110542",
            "categories": []
        },
        {
            "id": "MONDO:0011031",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011031",
            "categories": []
        },
        {
            "id": "MIM:601316",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601316",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58IJR1-1",
            "uniprot_ac": "A0AC58IJR1",
            "uniprot_id": "A0AC58IJR1_DANRE",
            "refseq_ac": "XP_073794468",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eyes absent homolog",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase EYA4 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eya4",
                    "type": "recommended"
                },
                {
                    "name": "eya4",
                    "type": "synonym"
                },
                {
                    "name": "im:7221408",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113079",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58IJR1-1",
            "evidence": [
                {
                    "id": "0110542",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110542"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z191-1",
            "uniprot_ac": "Q9Z191",
            "uniprot_id": "EYA4_MOUSE",
            "refseq_ac": "NP_001334301",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein phosphatase EYA4",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "Eyes absent homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "eyes absent 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "eyes absent homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase EYA4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase EYA4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eya4",
                    "type": "recommended"
                },
                {
                    "name": "B130023L16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Eya4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z191-1",
            "evidence": [
                {
                    "id": "0110542",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110542"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95677-1",
            "uniprot_ac": "O95677",
            "uniprot_id": "EYA4_HUMAN",
            "refseq_ac": "NP_001287941",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein phosphatase EYA4",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "Eyes absent homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "dJ78N10.1 (eyes absent)",
                    "type": "synonym"
                },
                {
                    "name": "eyes absent homolog 4",
                    "type": "synonym"
                },
                {
                    "name": "eyes absent-like protein 4",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase EYA4 isoform e",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase EYA4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EYA4",
                    "type": "recommended"
                },
                {
                    "name": "CMD1J",
                    "type": "synonym"
                },
                {
                    "name": "DFNA10",
                    "type": "synonym"
                },
                {
                    "name": "EYA4",
                    "type": "synonym"
                }
            ],
            "record_id": "O95677-1",
            "evidence": [
                {
                    "id": "601316",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601316"
                },
                {
                    "id": "0110542",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110542"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AS60-1",
            "uniprot_ac": "A0A8I6AS60",
            "uniprot_id": "A0A8I6AS60_RAT",
            "refseq_ac": "XP_038959236",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eyes absent homolog",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "eyes absent homolog 4 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eya4",
                    "type": "recommended"
                },
                {
                    "name": "Eya4",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AS60-1",
            "evidence": [
                {
                    "id": "0110542",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110542"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05201-1",
            "uniprot_ac": "Q05201",
            "uniprot_id": "EYA_DROME",
            "refseq_ac": "NP_523492",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein phosphatase eya",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "CG9554-PB",
                    "type": "synonym"
                },
                {
                    "name": "Developmental protein eyes absent",
                    "type": "synonym"
                },
                {
                    "name": "Eye absent",
                    "type": "synonym"
                },
                {
                    "name": "Eyes-absent",
                    "type": "synonym"
                },
                {
                    "name": "Protein Clift",
                    "type": "synonym"
                },
                {
                    "name": "clift",
                    "type": "synonym"
                },
                {
                    "name": "delayed gonad formation 1",
                    "type": "synonym"
                },
                {
                    "name": "eya-PB",
                    "type": "synonym"
                },
                {
                    "name": "eyeless 2",
                    "type": "synonym"
                },
                {
                    "name": "eyes absent, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "eyes absent",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eya",
                    "type": "recommended"
                },
                {
                    "name": "24582246",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:LD16029",
                    "type": "synonym"
                },
                {
                    "name": "CG9554",
                    "type": "synonym"
                },
                {
                    "name": "CLIFT",
                    "type": "synonym"
                },
                {
                    "name": "CLI",
                    "type": "synonym"
                },
                {
                    "name": "Clift",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9554",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9554",
                    "type": "synonym"
                },
                {
                    "name": "EY2-1",
                    "type": "synonym"
                },
                {
                    "name": "EYA",
                    "type": "synonym"
                },
                {
                    "name": "Eya",
                    "type": "synonym"
                },
                {
                    "name": "Eyes absent",
                    "type": "synonym"
                },
                {
                    "name": "cli/eya",
                    "type": "synonym"
                },
                {
                    "name": "cli[eya]",
                    "type": "synonym"
                },
                {
                    "name": "cli",
                    "type": "synonym"
                },
                {
                    "name": "dEYA",
                    "type": "synonym"
                },
                {
                    "name": "del1",
                    "type": "synonym"
                },
                {
                    "name": "eay",
                    "type": "synonym"
                },
                {
                    "name": "ey-2",
                    "type": "synonym"
                },
                {
                    "name": "eya",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05201-1",
            "evidence": [
                {
                    "id": "0110542",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110542"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110542"
}