{
    "disease_id": "DOID:0070670",
    "recommended_name": {
        "id": "DOID:0070670",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070670",
        "name": "autosomal recessive nonsyndromic deafness 123",
        "description": "An autosomal recessive nonsyndromic deafness characterized by bilateral severe to profound hearing impairment with onset as early as the first decade of life that has_material_basis_in homozygous mutation in the STX4 gene on chromosome 16p11."
    },
    "synonyms": [
        {
            "id": "DOID:0070670",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070670",
            "name": "DFNB123",
            "description": ""
        },
        {
            "id": "MONDO:0958277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958277",
            "name": "hearing loss, autosomal recessive 123",
            "description": ""
        },
        {
            "id": "MONDO:0958277",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958277",
            "name": "deafness, autosomal recessive 123",
            "description": ""
        },
        {
            "id": "MIM:620745",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620745",
            "name": "Deafness, autosomal recessive, 123",
            "description": "Deafness, autosomal recessive, 123"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070670"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070670",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070670",
            "categories": []
        },
        {
            "id": "MONDO:0958277",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0958277",
            "categories": []
        },
        {
            "id": "MIM:620745",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620745",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q12846-1",
            "uniprot_ac": "Q12846",
            "uniprot_id": "STX4_HUMAN",
            "refseq_ac": "NP_001259025",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Syntaxin-4",
                    "type": "recommended"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-31",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-31",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin 4A (placental)",
                    "type": "synonym"
                },
                {
                    "name": "syntaxin-4 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STX4",
                    "type": "recommended"
                },
                {
                    "name": "DFNB123",
                    "type": "synonym"
                },
                {
                    "name": "STX4A",
                    "type": "synonym"
                },
                {
                    "name": "STX4",
                    "type": "synonym"
                },
                {
                    "name": "p35-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12846-1",
            "evidence": [
                {
                    "id": "620745",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620745"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070670"
}