{
    "disease_id": "DOID:0070602",
    "recommended_name": {
        "id": "DOID:0070602",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070602",
        "name": "autosomal dominant nonsyndromic deafness 80",
        "description": "An autosomal dominant nonsyndromic deafness characterized by congenital deafness associated with absent or malformed cochleae and eighth cranial nerves that has_material_basis_in heterozygous mutation in the GREB1L gene on chromosome 18q11."
    },
    "synonyms": [
        {
            "id": "DOID:0070602",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070602",
            "name": "DFNA80",
            "description": ""
        },
        {
            "id": "DOID:0070602",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070602",
            "name": "autosomal dominant deafness 80",
            "description": ""
        },
        {
            "id": "MONDO:0030998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030998",
            "name": "hearing loss, autosomal dominant 80",
            "description": ""
        },
        {
            "id": "MONDO:0030998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030998",
            "name": "DFNA80",
            "description": ""
        },
        {
            "id": "MONDO:0030998",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030998",
            "name": "deafness, autosomal dominant 80",
            "description": ""
        },
        {
            "id": "MIM:619274",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619274",
            "name": "Deafness, autosomal dominant, 80",
            "description": "Deafness, autosomal dominant, 80"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070602"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070602",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070602",
            "categories": []
        },
        {
            "id": "MONDO:0030998",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030998",
            "categories": []
        },
        {
            "id": "MIM:619274",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619274",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8JKP6-1",
            "uniprot_ac": "B8JKP6",
            "uniprot_id": "GRB1L_DANRE",
            "refseq_ac": "NP_001349236",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GREB1-like protein",
                    "type": "recommended"
                },
                {
                    "name": "GREB1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "growth regulation by estrogen in breast cancer-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "greb1l",
                    "type": "recommended"
                },
                {
                    "name": "fc65f09",
                    "type": "synonym"
                },
                {
                    "name": "greb1l",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-203o21.1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-264l15.1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc55e03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc65f09",
                    "type": "synonym"
                }
            ],
            "record_id": "B8JKP6-1",
            "evidence": [
                {
                    "id": "0070602",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070602"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B9EJV3-1",
            "uniprot_ac": "B9EJV3",
            "uniprot_id": "GRB1L_MOUSE",
            "refseq_ac": "NP_001077097",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GREB1-like protein",
                    "type": "recommended"
                },
                {
                    "name": "GREB1-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Greb1l",
                    "type": "recommended"
                },
                {
                    "name": "Greb1l",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa4095",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA4095",
                    "type": "synonym"
                }
            ],
            "record_id": "B9EJV3-1",
            "evidence": [
                {
                    "id": "0070602",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070602"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9C091-1",
            "uniprot_ac": "Q9C091",
            "uniprot_id": "GRB1L_HUMAN",
            "refseq_ac": "NP_001136438",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GREB1-like protein",
                    "type": "recommended"
                },
                {
                    "name": "GREB1-like protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "GREB1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Growth regulation by estrogen in breast cancer 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "growth regulation by estrogen in breast cancer 1 like",
                    "type": "synonym"
                },
                {
                    "name": "growth regulation by estrogen in breast cancer 1-like protein",
                    "type": "synonym"
                },
                {
                    "name": "growth regulation by estrogen in breast cancer-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GREB1L",
                    "type": "recommended"
                },
                {
                    "name": "C18orf6",
                    "type": "synonym"
                },
                {
                    "name": "DFNA80",
                    "type": "synonym"
                },
                {
                    "name": "GREB1L",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1772",
                    "type": "synonym"
                },
                {
                    "name": "RHDA3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9C091-1",
            "evidence": [
                {
                    "id": "619274",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619274"
                },
                {
                    "id": "0070602",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070602"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M5N2-1",
            "uniprot_ac": "A0ABK0M5N2",
            "uniprot_id": "A0ABK0M5N2_RAT",
            "refseq_ac": "NP_001419399",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GREB1 like retinoic acid receptor coactivator",
                    "type": "synonym"
                },
                {
                    "name": "growth regulation by estrogen in breast cancer 1 like",
                    "type": "synonym"
                },
                {
                    "name": "growth regulation by estrogen in breast cancer-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Greb1l",
                    "type": "recommended"
                },
                {
                    "name": "Greb1l",
                    "type": "synonym"
                },
                {
                    "name": "RGD1562371",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0M5N2-1",
            "evidence": [
                {
                    "id": "0070602",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070602"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070602"
}