{
    "disease_id": "DOID:0110524",
    "recommended_name": {
        "id": "DOID:0110524",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110524",
        "name": "autosomal recessive nonsyndromic deafness 76",
        "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110524",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110524",
            "name": "DFNB76",
            "description": ""
        },
        {
            "id": "DOID:0110524",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110524",
            "name": "autosomal recessive deafness 76",
            "description": ""
        },
        {
            "id": "MONDO:0014237",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014237",
            "name": "autosomal recessive nonsyndromic hearing loss 76",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene."
        },
        {
            "id": "MONDO:0014237",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014237",
            "name": "autosomal recessive nonsyndromic hearing loss 76",
            "description": ""
        },
        {
            "id": "MONDO:0014237",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014237",
            "name": "DFNB76",
            "description": ""
        },
        {
            "id": "MONDO:0014237",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014237",
            "name": "SYNE4 autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0014237",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014237",
            "name": "autosomal recessive deafness 76",
            "description": ""
        },
        {
            "id": "MONDO:0014237",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014237",
            "name": "autosomal recessive nonsyndromic deafness 76",
            "description": ""
        },
        {
            "id": "MONDO:0014237",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014237",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in SYNE4",
            "description": ""
        },
        {
            "id": "MONDO:0014237",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014237",
            "name": "autosomal recessive nonsyndromic deafness type 76",
            "description": ""
        },
        {
            "id": "MONDO:0014237",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014237",
            "name": "deafness, autosomal recessive 76",
            "description": ""
        },
        {
            "id": "MONDO:0014237",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014237",
            "name": "deafness, autosomal recessive type 76",
            "description": ""
        },
        {
            "id": "MIM:615540",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615540",
            "name": "Deafness, autosomal recessive, 76",
            "description": "Deafness, autosomal recessive, 76"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110524"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110524",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110524",
            "categories": []
        },
        {
            "id": "MONDO:0014237",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014237",
            "categories": []
        },
        {
            "id": "MIM:615540",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615540",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CII8-1",
            "uniprot_ac": "Q8CII8",
            "uniprot_id": "SYNE4_MOUSE",
            "refseq_ac": "NP_705805",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nesprin-4",
                    "type": "recommended"
                },
                {
                    "name": "KASH domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "KASH4",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear envelope spectrin repeat protein 4",
                    "type": "synonym"
                },
                {
                    "name": "nesprin-4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nesprin-4",
                    "type": "synonym"
                },
                {
                    "name": "nuclear envelope spectrin repeat protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syne4",
                    "type": "recommended"
                },
                {
                    "name": "0610012K07Rik",
                    "type": "synonym"
                },
                {
                    "name": "AI428936",
                    "type": "synonym"
                },
                {
                    "name": "KASH4",
                    "type": "synonym"
                },
                {
                    "name": "Nesp4",
                    "type": "synonym"
                },
                {
                    "name": "Syne4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CII8-1",
            "evidence": [
                {
                    "id": "0110524",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110524"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N205-1",
            "uniprot_ac": "Q8N205",
            "uniprot_id": "SYNE4_HUMAN",
            "refseq_ac": "NP_001034965",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nesprin-4",
                    "type": "recommended"
                },
                {
                    "name": "KASH domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "KASH4",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear envelope spectrin repeat protein 4",
                    "type": "synonym"
                },
                {
                    "name": "deafness, autosomal recessive 76",
                    "type": "synonym"
                },
                {
                    "name": "nesprin-4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "nesprin-4",
                    "type": "synonym"
                },
                {
                    "name": "nuclear envelope spectrin repeat protein 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SYNE4",
                    "type": "recommended"
                },
                {
                    "name": "C19orf46",
                    "type": "synonym"
                },
                {
                    "name": "DFNB76",
                    "type": "synonym"
                },
                {
                    "name": "KASH4",
                    "type": "synonym"
                },
                {
                    "name": "Nesp4",
                    "type": "synonym"
                },
                {
                    "name": "SYNE4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N205-1",
            "evidence": [
                {
                    "id": "615540",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615540"
                },
                {
                    "id": "0110524",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110524"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5M844-1",
            "uniprot_ac": "Q5M844",
            "uniprot_id": "SYNE4_RAT",
            "refseq_ac": "NP_001009283",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nesprin-4",
                    "type": "recommended"
                },
                {
                    "name": "KASH domain-containing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "KASH domain-containing protein C19orf46 homolog",
                    "type": "synonym"
                },
                {
                    "name": "KASH4",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear envelope spectrin repeat protein 4",
                    "type": "synonym"
                },
                {
                    "name": "nesprin-4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "nesprin-4",
                    "type": "synonym"
                },
                {
                    "name": "nuclear envelope spectrin repeat protein 4",
                    "type": "synonym"
                },
                {
                    "name": "spectrin repeat containing, nuclear envelope family member 4-like 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syne4",
                    "type": "recommended"
                },
                {
                    "name": "KASH4",
                    "type": "synonym"
                },
                {
                    "name": "RGD1304580",
                    "type": "synonym"
                },
                {
                    "name": "Syne4l1",
                    "type": "synonym"
                },
                {
                    "name": "Syne4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5M844-1",
            "evidence": [
                {
                    "id": "0110524",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110524"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110524"
}