{
    "disease_id": "DOID:0110831",
    "recommended_name": {
        "id": "DOID:0110831",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110831",
        "name": "Usher syndrome type 1D",
        "description": "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110831",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110831",
            "name": "USH1D",
            "description": ""
        },
        {
            "id": "DOID:0110831",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110831",
            "name": "Usher syndrome type ID",
            "description": ""
        },
        {
            "id": "MONDO:0010984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010984",
            "name": "Usher syndrome type 1D",
            "description": "A form of Usher syndrome type I that is caused by homozygous or compound heterozygous mutation in the gene encoding cadherin-23 (CDH23) on chromosome 10q22. It is inherited in an autosomal recessive manner."
        },
        {
            "id": "MONDO:0010984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010984",
            "name": "USH1D",
            "description": ""
        },
        {
            "id": "MONDO:0010984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010984",
            "name": "Usher syndrome, type 1D/F digenic",
            "description": ""
        },
        {
            "id": "MONDO:0010984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010984",
            "name": "USHER syndrome, type ID",
            "description": ""
        },
        {
            "id": "MONDO:0010984",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010984",
            "name": "Usher syndrome, type 1D",
            "description": ""
        },
        {
            "id": "MIM:601067",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601067",
            "name": "Usher syndrome 1D",
            "description": "Usher syndrome 1D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110831"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110831",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110831",
            "categories": []
        },
        {
            "id": "MONDO:0010984",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010984",
            "categories": []
        },
        {
            "id": "MIM:601067",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601067",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99PF4-1",
            "uniprot_ac": "Q99PF4",
            "uniprot_id": "CAD23_MOUSE",
            "refseq_ac": "NP_075859",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-23",
                    "type": "recommended"
                },
                {
                    "name": "Otocadherin",
                    "type": "synonym"
                },
                {
                    "name": "age related hearing loss 1",
                    "type": "synonym"
                },
                {
                    "name": "bobby",
                    "type": "synonym"
                },
                {
                    "name": "bustling",
                    "type": "synonym"
                },
                {
                    "name": "cadherin 23 (otocadherin)",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-23 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-23",
                    "type": "synonym"
                },
                {
                    "name": "modifier of deaf waddler",
                    "type": "synonym"
                },
                {
                    "name": "otocadherin",
                    "type": "synonym"
                },
                {
                    "name": "waltzer",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdh23",
                    "type": "recommended"
                },
                {
                    "name": "4930542A03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cdh23",
                    "type": "synonym"
                },
                {
                    "name": "USH1D",
                    "type": "synonym"
                },
                {
                    "name": "ahl1",
                    "type": "synonym"
                },
                {
                    "name": "ahl",
                    "type": "synonym"
                },
                {
                    "name": "bob",
                    "type": "synonym"
                },
                {
                    "name": "bus",
                    "type": "synonym"
                },
                {
                    "name": "mdfw",
                    "type": "synonym"
                },
                {
                    "name": "nmf112",
                    "type": "synonym"
                },
                {
                    "name": "nmf181",
                    "type": "synonym"
                },
                {
                    "name": "nmf252",
                    "type": "synonym"
                },
                {
                    "name": "sals",
                    "type": "synonym"
                },
                {
                    "name": "v",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99PF4-1",
            "evidence": [
                {
                    "id": "0110831",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110831"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99PJ1-1",
            "uniprot_ac": "Q99PJ1",
            "uniprot_id": "PCD15_MOUSE",
            "refseq_ac": "NP_001136207",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin-15",
                    "type": "recommended"
                },
                {
                    "name": "Ames waltzer",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin 15 CD2",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin-15 isoform CD1-2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pcdh15",
                    "type": "recommended"
                },
                {
                    "name": "Gm9815",
                    "type": "synonym"
                },
                {
                    "name": "Pcdh15",
                    "type": "synonym"
                },
                {
                    "name": "Ush1f",
                    "type": "synonym"
                },
                {
                    "name": "av",
                    "type": "synonym"
                },
                {
                    "name": "nmf19",
                    "type": "synonym"
                },
                {
                    "name": "roda",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99PJ1-1",
            "evidence": [
                {
                    "id": "0110831",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110831"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96QU1-1",
            "uniprot_ac": "Q96QU1",
            "uniprot_id": "PCD15_HUMAN",
            "refseq_ac": "NP_149045",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin-15",
                    "type": "recommended"
                },
                {
                    "name": "cadherin-related family member 15",
                    "type": "synonym"
                },
                {
                    "name": "protocadherin-15 isoform CD1-4 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PCDH15",
                    "type": "recommended"
                },
                {
                    "name": "CDHR15",
                    "type": "synonym"
                },
                {
                    "name": "DFNB23",
                    "type": "synonym"
                },
                {
                    "name": "PCDH15",
                    "type": "synonym"
                },
                {
                    "name": "USH1F",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96QU1-1",
            "evidence": [
                {
                    "id": "601067",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601067"
                },
                {
                    "id": "0110831",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110831"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H251-1",
            "uniprot_ac": "Q9H251",
            "uniprot_id": "CAD23_HUMAN",
            "refseq_ac": "NP_001165401",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-23",
                    "type": "recommended"
                },
                {
                    "name": "Otocadherin",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-23 isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-like 23",
                    "type": "synonym"
                },
                {
                    "name": "cadherin-related family member 23",
                    "type": "synonym"
                },
                {
                    "name": "otocadherin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CDH23",
                    "type": "recommended"
                },
                {
                    "name": "CDH23",
                    "type": "synonym"
                },
                {
                    "name": "CDHR23",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1774",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1812",
                    "type": "synonym"
                },
                {
                    "name": "PITA5",
                    "type": "synonym"
                },
                {
                    "name": "PRO4340",
                    "type": "synonym"
                },
                {
                    "name": "USH1D",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H251-1",
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                {
                    "id": "601067",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601067"
                },
                {
                    "id": "0110831",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110831"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58365-1",
            "uniprot_ac": "P58365",
            "uniprot_id": "CAD23_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-23",
                    "type": "recommended"
                },
                {
                    "name": "Otocadherin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cdh23",
                    "type": "recommended"
                }
            ],
            "record_id": "P58365-1",
            "evidence": [
                {
                    "id": "0110831",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110831"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6B3E0-1",
            "uniprot_ac": "A0A8I6B3E0",
            "uniprot_id": "A0A8I6B3E0_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protocadherin-15",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Pcdh15",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6B3E0-1",
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                {
                    "id": "0110831",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110831"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGG5-1",
            "uniprot_ac": "Q9VGG5",
            "uniprot_id": "CAD87_DROME",
            "refseq_ac": "NP_731649",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cadherin-87A",
                    "type": "recommended"
                },
                {
                    "name": "CG6977-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cad87A-PA",
                    "type": "synonym"
                },
                {
                    "name": "cadherin 87A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cad87A",
                    "type": "recommended"
                },
                {
                    "name": "CG6977",
                    "type": "synonym"
                },
                {
                    "name": "CT21611",
                    "type": "synonym"
                },
                {
                    "name": "Cad87A",
                    "type": "synonym"
                },
                {
                    "name": "Cad87",
                    "type": "synonym"
                },
                {
                    "name": "DCad87A",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6977",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGG5-1",
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                {
                    "id": "0110831",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110831"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAF5-1",
            "uniprot_ac": "Q9VAF5",
            "uniprot_id": "CAD99_DROME",
            "refseq_ac": "NP_001189311",
            "glycoprotein": "yes",
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                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
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                    "name": "Cadherin-99C",
                    "type": "recommended"
                },
                {
                    "name": "CG31009-PB",
                    "type": "synonym"
                },
                {
                    "name": "Cad99C-PB",
                    "type": "synonym"
                },
                {
                    "name": "Cadherin99C",
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                },
                {
                    "name": "cadherin 99C, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cad99C",
                    "type": "recommended"
                },
                {
                    "name": "CA-10",
                    "type": "synonym"
                },
                {
                    "name": "CG15511",
                    "type": "synonym"
                },
                {
                    "name": "CG310034",
                    "type": "synonym"
                },
                {
                    "name": "CG31009",
                    "type": "synonym"
                },
                {
                    "name": "CG7805",
                    "type": "synonym"
                },
                {
                    "name": "CT35624",
                    "type": "synonym"
                },
                {
                    "name": "CT4930",
                    "type": "synonym"
                },
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                    "name": "Cad99C",
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                },
                {
                    "name": "Cad99c",
                    "type": "synonym"
                },
                {
                    "name": "DCad99C",
                    "type": "synonym"
                },
                {
                    "name": "Dm Cad99C",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31009",
                    "type": "synonym"
                },
                {
                    "name": "cad99C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAF5-1",
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                {
                    "id": "0110831",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110831"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VFH5-1",
            "uniprot_ac": "Q9VFH5",
            "uniprot_id": "Q9VFH5_DROME",
            "refseq_ac": "NP_731930",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG3389-PB",
                    "type": "synonym"
                },
                {
                    "name": "Cad88C-PB",
                    "type": "synonym"
                },
                {
                    "name": "Cadherin 88C",
                    "type": "synonym"
                },
                {
                    "name": "cadherin 88C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cad88C",
                    "type": "recommended"
                },
                {
                    "name": "CG3389",
                    "type": "synonym"
                },
                {
                    "name": "CT11389",
                    "type": "synonym"
                },
                {
                    "name": "Cad88C",
                    "type": "synonym"
                },
                {
                    "name": "DCad88C",
                    "type": "synonym"
                },
                {
                    "name": "Dm Cad88C",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3389",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3389",
                    "type": "synonym"
                },
                {
                    "name": "cad88C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VFH5-1",
            "evidence": [
                {
                    "id": "0110831",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110831"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110831"
}