{
    "disease_id": "DOID:0110463",
    "recommended_name": {
        "id": "DOID:0110463",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110463",
        "name": "autosomal recessive nonsyndromic deafness 102",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12."
    },
    "synonyms": [
        {
            "id": "DOID:0110463",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110463",
            "name": "DFNB102",
            "description": ""
        },
        {
            "id": "DOID:0110463",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110463",
            "name": "autosomal recessive deafness 102",
            "description": ""
        },
        {
            "id": "MONDO:0014428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014428",
            "name": "autosomal recessive nonsyndromic hearing loss 102",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene."
        },
        {
            "id": "MONDO:0014428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014428",
            "name": "autosomal recessive nonsyndromic hearing loss 102",
            "description": ""
        },
        {
            "id": "MONDO:0014428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014428",
            "name": "DFNB102",
            "description": ""
        },
        {
            "id": "MONDO:0014428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014428",
            "name": "EPS8 autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0014428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014428",
            "name": "autosomal recessive deafness 102",
            "description": ""
        },
        {
            "id": "MONDO:0014428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014428",
            "name": "autosomal recessive nonsyndromic deafness 102",
            "description": ""
        },
        {
            "id": "MONDO:0014428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014428",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in EPS8",
            "description": ""
        },
        {
            "id": "MONDO:0014428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014428",
            "name": "autosomal recessive nonsyndromic deafness type 102",
            "description": ""
        },
        {
            "id": "MONDO:0014428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014428",
            "name": "deafness, autosomal recessive 102",
            "description": ""
        },
        {
            "id": "MONDO:0014428",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014428",
            "name": "deafness, autosomal recessive type 102",
            "description": ""
        },
        {
            "id": "MIM:615974",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615974",
            "name": "Deafness, autosomal recessive, 102",
            "description": "Deafness, autosomal recessive, 102"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110463"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110463",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110463",
            "categories": []
        },
        {
            "id": "MONDO:0014428",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014428",
            "categories": []
        },
        {
            "id": "MIM:615974",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615974",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58J5T6-1",
            "uniprot_ac": "A0AC58J5T6",
            "uniprot_id": "A0AC58J5T6_DANRE",
            "refseq_ac": "XP_073801843",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epidermal growth factor receptor kinase substrate 8-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Epidermal growth factor receptor pathway substrate 8-related protein 1",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor kinase substrate 8a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eps8a",
                    "type": "recommended"
                },
                {
                    "name": "eps8a",
                    "type": "synonym"
                },
                {
                    "name": "eps8",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56041",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58J5T6-1",
            "evidence": [
                {
                    "id": "0110463",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110463"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08509-1",
            "uniprot_ac": "Q08509",
            "uniprot_id": "EPS8_MOUSE",
            "refseq_ac": "NP_001258516",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epidermal growth factor receptor kinase substrate 8",
                    "type": "recommended"
                },
                {
                    "name": "epidermal growth factor receptor kinase substrate 8 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor kinase substrate 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eps8",
                    "type": "recommended"
                },
                {
                    "name": "Eps8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08509-1",
            "evidence": [
                {
                    "id": "0110463",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110463"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12929-1",
            "uniprot_ac": "Q12929",
            "uniprot_id": "EPS8_HUMAN",
            "refseq_ac": "NP_004438",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epidermal growth factor receptor kinase substrate 8",
                    "type": "recommended"
                },
                {
                    "name": "epidermal growth factor receptor kinase substrate 8 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor kinase substrate 8",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor pathway substrate 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EPS8",
                    "type": "recommended"
                },
                {
                    "name": "DFNB102",
                    "type": "synonym"
                },
                {
                    "name": "EPS8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12929-1",
            "evidence": [
                {
                    "id": "615974",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615974"
                },
                {
                    "id": "0110463",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110463"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M3L7-1",
            "uniprot_ac": "F1M3L7",
            "uniprot_id": "EPS8_RAT",
            "refseq_ac": "NP_001363864",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epidermal growth factor receptor kinase substrate 8",
                    "type": "recommended"
                },
                {
                    "name": "epidermal growth factor receptor kinase substrate 8",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor pathway substrate 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eps8",
                    "type": "recommended"
                },
                {
                    "name": "Eps8",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M3L7-1",
            "evidence": [
                {
                    "id": "0110463",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110463"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IPW1-1",
            "uniprot_ac": "Q8IPW1",
            "uniprot_id": "Q8IPW1_DROME",
            "refseq_ac": "NP_722663",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Arouser, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "CG4276-PA",
                    "type": "synonym"
                },
                {
                    "name": "EPS8L3",
                    "type": "synonym"
                },
                {
                    "name": "arouser, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "aru-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "aru",
                    "type": "recommended"
                },
                {
                    "name": "CG4276",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4276",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4276",
                    "type": "synonym"
                },
                {
                    "name": "EPS8L3",
                    "type": "synonym"
                },
                {
                    "name": "aru",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IPW1-1",
            "evidence": [
                {
                    "id": "0110463",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110463"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110463"
}