{
    "disease_id": "DOID:0070672",
    "recommended_name": {
        "id": "DOID:0070672",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070672",
        "name": "autosomal recessive nonsyndromic deafness 118",
        "description": "An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss and cochlear aplasia that has_material_basis_in homozygous 200-kb deletion of a region downstream of the GDF6 gene on chromosome 8q22 resulting in its misexpression."
    },
    "synonyms": [
        {
            "id": "DOID:0070672",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070672",
            "name": "DFNB118",
            "description": ""
        },
        {
            "id": "MONDO:0030449",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030449",
            "name": "hearing loss, autosomal recessive 118, with cochlear aplasia",
            "description": ""
        },
        {
            "id": "MONDO:0030449",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030449",
            "name": "DFNB118",
            "description": ""
        },
        {
            "id": "MONDO:0030449",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030449",
            "name": "deafness, autosomal recessive 118, with cochlear aplasia",
            "description": ""
        },
        {
            "id": "MIM:619553",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619553",
            "name": "Deafness, autosomal recessive, 118, with cochlear aplasia",
            "description": "Deafness, autosomal recessive, 118, with cochlear aplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070672"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070672",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070672",
            "categories": []
        },
        {
            "id": "MONDO:0030449",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030449",
            "categories": []
        },
        {
            "id": "MIM:619553",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619553",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6KF10-1",
            "uniprot_ac": "Q6KF10",
            "uniprot_id": "GDF6_HUMAN",
            "refseq_ac": "NP_001001557",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Growth/differentiation factor 6",
                    "type": "recommended"
                },
                {
                    "name": "BMP-13",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 13",
                    "type": "synonym"
                },
                {
                    "name": "GDF-6",
                    "type": "synonym"
                },
                {
                    "name": "Growth/differentiation factor 16",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 13",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 16",
                    "type": "synonym"
                },
                {
                    "name": "growth/differentiation factor 6 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GDF6",
                    "type": "recommended"
                },
                {
                    "name": "BMP-13",
                    "type": "synonym"
                },
                {
                    "name": "BMP13",
                    "type": "synonym"
                },
                {
                    "name": "CDMP2",
                    "type": "synonym"
                },
                {
                    "name": "GDF16",
                    "type": "synonym"
                },
                {
                    "name": "GDF6",
                    "type": "synonym"
                },
                {
                    "name": "KFM",
                    "type": "synonym"
                },
                {
                    "name": "KFS1",
                    "type": "synonym"
                },
                {
                    "name": "KFSL",
                    "type": "synonym"
                },
                {
                    "name": "KFS",
                    "type": "synonym"
                },
                {
                    "name": "SGM1",
                    "type": "synonym"
                },
                {
                    "name": "SYNS4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6KF10-1",
            "evidence": [
                {
                    "id": "619553",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619553"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070672"
}