{
    "disease_id": "DOID:0070673",
    "recommended_name": {
        "id": "DOID:0070673",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070673",
        "name": "autosomal recessive nonsyndromic deafness 119",
        "description": "An autosomal recessive nonsyndromic deafness characterized by mild to profound sensorineural hearing loss that has_material_basis_in compound heterozygous mutation in the AFG2B gene on chromosome 15q21."
    },
    "synonyms": [
        {
            "id": "DOID:0070673",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070673",
            "name": "DFNB119",
            "description": ""
        },
        {
            "id": "MONDO:0030480",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030480",
            "name": "hearing loss, autosomal recessive 119",
            "description": ""
        },
        {
            "id": "MONDO:0030480",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030480",
            "name": "DFNB119",
            "description": ""
        },
        {
            "id": "MONDO:0030480",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030480",
            "name": "deafness, autosomal recessive 119",
            "description": ""
        },
        {
            "id": "MIM:619615",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619615",
            "name": "Deafness, autosomal recessive, 119",
            "description": "Deafness, autosomal recessive, 119"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070673"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070673",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070673",
            "categories": []
        },
        {
            "id": "MONDO:0030480",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030480",
            "categories": []
        },
        {
            "id": "MIM:619615",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619615",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9BVQ7-1",
            "uniprot_ac": "Q9BVQ7",
            "uniprot_id": "AFG2B_HUMAN",
            "refseq_ac": "NP_001310569",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATPase family gene 2 protein homolog B",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.10",
                    "type": "synonym"
                },
                {
                    "name": "AFG2 AAA ATPase homolog B",
                    "type": "synonym"
                },
                {
                    "name": "ATPase family gene 2 protein homolog B isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ATPase family gene 2 protein homolog B",
                    "type": "synonym"
                },
                {
                    "name": "Ribosome biogenesis protein SPATA5L1",
                    "type": "synonym"
                },
                {
                    "name": "Spermatogenesis-associated protein 5-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ribosome biogenesis protein SPATA5L1",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis associated 5 like 1",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis-associated protein 5-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AFG2B",
                    "type": "recommended"
                },
                {
                    "name": "AFG2B",
                    "type": "synonym"
                },
                {
                    "name": "DFNB119",
                    "type": "synonym"
                },
                {
                    "name": "NEDHLS",
                    "type": "synonym"
                },
                {
                    "name": "SPATA5L1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BVQ7-1",
            "evidence": [
                {
                    "id": "619615",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619615"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070673"
}