{
    "disease_id": "DOID:0070611",
    "recommended_name": {
        "id": "DOID:0070611",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070611",
        "name": "autosomal dominant nonsyndromic deafness 88",
        "description": "An autosomal dominant nonsyndromic deafness characterized by postlingual progressive severe sensorineural hearing loss with tinnitus that has_material_basis_in heterozygous mutation in the EPHA10 gene on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "DOID:0070611",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070611",
            "name": "DFNA88",
            "description": ""
        },
        {
            "id": "DOID:0070611",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070611",
            "name": "autosomal dominant deafness 88",
            "description": ""
        },
        {
            "id": "MONDO:0859527",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859527",
            "name": "hearing loss, autosomal dominant 88",
            "description": ""
        },
        {
            "id": "MIM:620283",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620283",
            "name": "Deafness, autosomal dominant, 88",
            "description": "Deafness, autosomal dominant, 88"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070611"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070611",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070611",
            "categories": []
        },
        {
            "id": "MONDO:0859527",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859527",
            "categories": []
        },
        {
            "id": "MIM:620283",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620283",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8BYG9-1",
            "uniprot_ac": "Q8BYG9",
            "uniprot_id": "EPHAA_MOUSE",
            "refseq_ac": "NP_808339",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ephrin type-A receptor 10",
                    "type": "recommended"
                },
                {
                    "name": "Inactive tyrosine-protein kinase EPHA10",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-A receptor 10 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-A receptor 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epha10",
                    "type": "recommended"
                },
                {
                    "name": "A330090H18",
                    "type": "synonym"
                },
                {
                    "name": "Epha10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BYG9-1",
            "evidence": [
                {
                    "id": "0070611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5JZY3-1",
            "uniprot_ac": "Q5JZY3",
            "uniprot_id": "EPHAA_HUMAN",
            "refseq_ac": "NP_001092909",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ephrin type-A receptor 10",
                    "type": "recommended"
                },
                {
                    "name": "EphA10s protein",
                    "type": "synonym"
                },
                {
                    "name": "Ephrin type-A receptor 10",
                    "type": "synonym"
                },
                {
                    "name": "Inactive tyrosine-protein kinase EPHA10",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-A receptor 10 isoform 3 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EPHA10",
                    "type": "recommended"
                },
                {
                    "name": "DFNA88",
                    "type": "synonym"
                },
                {
                    "name": "EPHA10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5JZY3-1",
            "evidence": [
                {
                    "id": "620283",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620283"
                },
                {
                    "id": "0070611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LX55-1",
            "uniprot_ac": "F1LX55",
            "uniprot_id": "F1LX55_RAT",
            "refseq_ac": "NP_001382024",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ephrin type-A receptor 10",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-A receptor 10 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ephrin type-A receptor 10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epha10",
                    "type": "recommended"
                },
                {
                    "name": "Epha10",
                    "type": "synonym"
                },
                {
                    "name": "RGD1562679",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LX55-1",
            "evidence": [
                {
                    "id": "0070611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070611"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V4E5-1",
            "uniprot_ac": "Q9V4E5",
            "uniprot_id": "Q9V4E5_DROME",
            "refseq_ac": "NP_524625",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "receptor protein-tyrosine kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "CG1511-PC",
                    "type": "synonym"
                },
                {
                    "name": "Eph kinase",
                    "type": "synonym"
                },
                {
                    "name": "Eph receptor tyrosine kinase, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Eph receptor",
                    "type": "synonym"
                },
                {
                    "name": "Eph-PC",
                    "type": "synonym"
                },
                {
                    "name": "Erythropoietin-producing human",
                    "type": "synonym"
                },
                {
                    "name": "drosophila eph",
                    "type": "synonym"
                },
                {
                    "name": "ephrin receptors",
                    "type": "synonym"
                },
                {
                    "name": "hepatocellular carcinoma cell line",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eph",
                    "type": "recommended"
                },
                {
                    "name": "CG1511",
                    "type": "synonym"
                },
                {
                    "name": "CT3831",
                    "type": "synonym"
                },
                {
                    "name": "DEK",
                    "type": "synonym"
                },
                {
                    "name": "Dek7",
                    "type": "synonym"
                },
                {
                    "name": "Dek",
                    "type": "synonym"
                },
                {
                    "name": "Deph",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1511",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1511",
                    "type": "synonym"
                },
                {
                    "name": "EPH",
                    "type": "synonym"
                },
                {
                    "name": "Ek7",
                    "type": "synonym"
                },
                {
                    "name": "Eph",
                    "type": "synonym"
                },
                {
                    "name": "RPTK Dek7",
                    "type": "synonym"
                },
                {
                    "name": "dek",
                    "type": "synonym"
                },
                {
                    "name": "eph",
                    "type": "synonym"
                },
                {
                    "name": "lincRNA.923",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V4E5-1",
            "evidence": [
                {
                    "id": "0070611",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070611"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070611"
}