{
    "disease_id": "DOID:0110473",
    "recommended_name": {
        "id": "DOID:0110473",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110473",
        "name": "autosomal recessive nonsyndromic deafness 18A",
        "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the USH1C gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "DOID:0110473",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110473",
            "name": "DFNB18A",
            "description": ""
        },
        {
            "id": "DOID:0110473",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110473",
            "name": "autosomal recessive deafness 18A",
            "description": ""
        },
        {
            "id": "MONDO:0011192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011192",
            "name": "autosomal recessive nonsyndromic hearing loss 18A",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene."
        },
        {
            "id": "MONDO:0011192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011192",
            "name": "DFNB18A",
            "description": ""
        },
        {
            "id": "MONDO:0011192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011192",
            "name": "USH1C autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0011192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011192",
            "name": "autosomal recessive deafness 18A",
            "description": ""
        },
        {
            "id": "MONDO:0011192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011192",
            "name": "autosomal recessive nonsyndromic deafness 18A",
            "description": ""
        },
        {
            "id": "MONDO:0011192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011192",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in USH1C",
            "description": ""
        },
        {
            "id": "MONDO:0011192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011192",
            "name": "autosomal recessive nonsyndromic deafness type 18A",
            "description": ""
        },
        {
            "id": "MONDO:0011192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011192",
            "name": "deafness, autosomal recessive 18",
            "description": ""
        },
        {
            "id": "MONDO:0011192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011192",
            "name": "deafness, autosomal recessive 18A",
            "description": ""
        },
        {
            "id": "MONDO:0011192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011192",
            "name": "deafness, autosomal recessive 18a",
            "description": ""
        },
        {
            "id": "MONDO:0011192",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011192",
            "name": "deafness, autosomal recessive type 18A",
            "description": ""
        },
        {
            "id": "MIM:602092",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602092",
            "name": "Deafness, autosomal recessive, 18A",
            "description": "Deafness, autosomal recessive, 18A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110473"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110473",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110473",
            "categories": []
        },
        {
            "id": "MONDO:0011192",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011192",
            "categories": []
        },
        {
            "id": "MIM:602092",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602092",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9ES64-1",
            "uniprot_ac": "Q9ES64",
            "uniprot_id": "USH1C_MOUSE",
            "refseq_ac": "NP_001157205",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Harmonin",
                    "type": "recommended"
                },
                {
                    "name": "PDZ domain-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome 1C homolog",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome type-1C protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "harmonin isoform b4",
                    "type": "synonym"
                },
                {
                    "name": "usher syndrome type-1C protein homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ush1c",
                    "type": "recommended"
                },
                {
                    "name": "2010016F01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ush1c",
                    "type": "synonym"
                },
                {
                    "name": "harmonin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ES64-1",
            "evidence": [
                {
                    "id": "0110473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110473"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6N9-1",
            "uniprot_ac": "Q9Y6N9",
            "uniprot_id": "USH1C_HUMAN",
            "refseq_ac": "NP_001284693",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Harmonin",
                    "type": "recommended"
                },
                {
                    "name": "Antigen NY-CO-38/NY-CO-37",
                    "type": "synonym"
                },
                {
                    "name": "Autoimmune enteropathy-related antigen AIE-75",
                    "type": "synonym"
                },
                {
                    "name": "Protein PDZ-73",
                    "type": "synonym"
                },
                {
                    "name": "Renal carcinoma antigen NY-REN-3",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome 1C (autosomal recessive, severe)",
                    "type": "synonym"
                },
                {
                    "name": "Usher syndrome type-1C protein",
                    "type": "synonym"
                },
                {
                    "name": "antigen NY-CO-38/NY-CO-37",
                    "type": "synonym"
                },
                {
                    "name": "autoimmune enteropathy-related antigen AIE-75",
                    "type": "synonym"
                },
                {
                    "name": "harmonin isoform c",
                    "type": "synonym"
                },
                {
                    "name": "harmonin",
                    "type": "synonym"
                },
                {
                    "name": "renal carcinoma antigen NY-REN-3",
                    "type": "synonym"
                },
                {
                    "name": "usher syndrome type-1C protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "USH1C",
                    "type": "recommended"
                },
                {
                    "name": "AIE-75",
                    "type": "synonym"
                },
                {
                    "name": "AIE75",
                    "type": "synonym"
                },
                {
                    "name": "DFNB18A",
                    "type": "synonym"
                },
                {
                    "name": "DFNB18",
                    "type": "synonym"
                },
                {
                    "name": "NY-CO-37",
                    "type": "synonym"
                },
                {
                    "name": "NY-CO-38",
                    "type": "synonym"
                },
                {
                    "name": "PDZ-45",
                    "type": "synonym"
                },
                {
                    "name": "PDZ-73/NY-CO-38",
                    "type": "synonym"
                },
                {
                    "name": "PDZ-73",
                    "type": "synonym"
                },
                {
                    "name": "PDZ73",
                    "type": "synonym"
                },
                {
                    "name": "PDZD7C",
                    "type": "synonym"
                },
                {
                    "name": "USH1C",
                    "type": "synonym"
                },
                {
                    "name": "ush1cpst",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6N9-1",
            "evidence": [
                {
                    "id": "602092",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602092"
                },
                {
                    "id": "0110473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110473"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W443-1",
            "uniprot_ac": "Q9W443",
            "uniprot_id": "Q9W443_DROME",
            "refseq_ac": "NP_727061",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "PDZ domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG5921-PD",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG5921",
                    "type": "recommended"
                },
                {
                    "name": "CG5921",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5921",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5921",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W443-1",
            "evidence": [
                {
                    "id": "0110473",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110473"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110473"
}