{
    "disease_id": "DOID:0080261",
    "recommended_name": {
        "id": "DOID:0080261",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080261",
        "name": "autosomal recessive nonsyndromic deafness 106",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "MONDO:0033198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033198",
            "name": "hearing loss, autosomal recessive 106",
            "description": ""
        },
        {
            "id": "MONDO:0033198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033198",
            "name": "DFNB106",
            "description": ""
        },
        {
            "id": "MONDO:0033198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033198",
            "name": "autosomal recessive nonsyndromic deafness 106",
            "description": ""
        },
        {
            "id": "MONDO:0033198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033198",
            "name": "deafness autosomal recessive 106",
            "description": ""
        },
        {
            "id": "MONDO:0033198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033198",
            "name": "deafness, autosomal recessive 106",
            "description": ""
        },
        {
            "id": "MIM:617637",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617637",
            "name": "Deafness, autosomal recessive, 106",
            "description": "Deafness, autosomal recessive, 106"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080261"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080261",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080261",
            "categories": []
        },
        {
            "id": "MONDO:0033198",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033198",
            "categories": []
        },
        {
            "id": "MIM:617637",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617637",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TNY4-1",
            "uniprot_ac": "A0AB32TNY4",
            "uniprot_id": "A0AB32TNY4_DANRE",
            "refseq_ac": "XP_068075006",
            "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 2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor kinase substrate 8-like protein 2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eps8b",
                    "type": "recommended"
                },
                {
                    "name": "eps8b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TNY4-1",
            "evidence": [
                {
                    "id": "0080261",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080261"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99K30-1",
            "uniprot_ac": "Q99K30",
            "uniprot_id": "ES8L2_MOUSE",
            "refseq_ac": "NP_573454",
            "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-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "EPS8 related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "EPS8-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "EPS8-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal growth factor receptor pathway substrate 8-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor kinase substrate 8-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor pathway substrate 8-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor pathway substrate 8-related protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eps8l2",
                    "type": "recommended"
                },
                {
                    "name": "Eps8l2",
                    "type": "synonym"
                },
                {
                    "name": "Eps8r2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99K30-1",
            "evidence": [
                {
                    "id": "0080261",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080261"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H6S3-1",
            "uniprot_ac": "Q9H6S3",
            "uniprot_id": "ES8L2_HUMAN",
            "refseq_ac": "NP_073609",
            "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-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "EPS8 like 2",
                    "type": "synonym"
                },
                {
                    "name": "EPS8-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "EPS8-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal growth factor receptor pathway substrate 8-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor kinase substrate 8-like protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor kinase substrate 8-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor pathway substrate 8-related protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EPS8L2",
                    "type": "recommended"
                },
                {
                    "name": "DFNB106",
                    "type": "synonym"
                },
                {
                    "name": "EPS8L2",
                    "type": "synonym"
                },
                {
                    "name": "EPS8R2",
                    "type": "synonym"
                },
                {
                    "name": "PP13181",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H6S3-1",
            "evidence": [
                {
                    "id": "617637",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617637"
                },
                {
                    "id": "0080261",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080261"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7DLY1-1",
            "uniprot_ac": "F7DLY1",
            "uniprot_id": "F7DLY1_RAT",
            "refseq_ac": "NP_001386596",
            "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-like protein 2",
                    "type": "recommended"
                },
                {
                    "name": "EPS8-like 2",
                    "type": "synonym"
                },
                {
                    "name": "Epidermal growth factor receptor pathway substrate 8-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "epidermal growth factor receptor kinase substrate 8-like protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eps8l2",
                    "type": "recommended"
                },
                {
                    "name": "Eps8l2",
                    "type": "synonym"
                }
            ],
            "record_id": "F7DLY1-1",
            "evidence": [
                {
                    "id": "0080261",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080261"
                }
            ]
        },
        {
            "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": "0080261",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080261"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080261"
}