{
    "disease_id": "DOID:0110541",
    "recommended_name": {
        "id": "DOID:0110541",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110541",
        "name": "autosomal dominant nonsyndromic deafness 1",
        "description": "An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31."
    },
    "synonyms": [
        {
            "id": "DOID:0110541",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110541",
            "name": "DFNA1",
            "description": ""
        },
        {
            "id": "DOID:0110541",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110541",
            "name": "Konigsmark syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110541",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110541",
            "name": "LFHL1",
            "description": ""
        },
        {
            "id": "DOID:0110541",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110541",
            "name": "autosomal dominant deafness 1",
            "description": ""
        },
        {
            "id": "DOID:0110541",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110541",
            "name": "hereditary low frequency hearing loss 1",
            "description": ""
        },
        {
            "id": "DOID:0110541",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110541",
            "name": "autosomal dominant deafness 1, with or without thrombocytopenia",
            "description": ""
        },
        {
            "id": "MONDO:0007424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007424",
            "name": "autosomal dominant nonsyndromic hearing loss 1",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene."
        },
        {
            "id": "MONDO:0007424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007424",
            "name": "Konigsmark syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007424",
            "name": "DFNA1",
            "description": ""
        },
        {
            "id": "MONDO:0007424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007424",
            "name": "DIAPH1 autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0007424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007424",
            "name": "autosomal dominant deafness 1",
            "description": ""
        },
        {
            "id": "MONDO:0007424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007424",
            "name": "autosomal dominant nonsyndromic deafness 1",
            "description": ""
        },
        {
            "id": "MONDO:0007424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007424",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1",
            "description": ""
        },
        {
            "id": "MONDO:0007424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007424",
            "name": "autosomal dominant nonsyndromic deafness type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007424",
            "name": "deafness, autosomal dominant 1",
            "description": ""
        },
        {
            "id": "MONDO:0007424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007424",
            "name": "deafness, autosomal dominant 1, with or without thrombocytopenia",
            "description": ""
        },
        {
            "id": "MONDO:0007424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007424",
            "name": "deafness, autosomal dominant type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007424",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007424",
            "name": "deafness, progressive Low tone",
            "description": ""
        },
        {
            "id": "MIM:124900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/124900",
            "name": "Deafness, autosomal dominant 1, with or without thrombocytopenia",
            "description": "Deafness, autosomal dominant 1, with or without thrombocytopenia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110541"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110541",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110541",
            "categories": []
        },
        {
            "id": "MONDO:0007424",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007424",
            "categories": []
        },
        {
            "id": "MIM:124900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/124900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O08808-1",
            "uniprot_ac": "O08808",
            "uniprot_id": "DIAP1_MOUSE",
            "refseq_ac": "NP_031884",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein diaphanous homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "DRF1",
                    "type": "synonym"
                },
                {
                    "name": "Diaphanous-related formin-1",
                    "type": "synonym"
                },
                {
                    "name": "mDIA1",
                    "type": "synonym"
                },
                {
                    "name": "p140mDIA",
                    "type": "synonym"
                },
                {
                    "name": "protein diaphanous homolog 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein diaphanous homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Diaph1",
                    "type": "recommended"
                },
                {
                    "name": "D18Wsu154e",
                    "type": "synonym"
                },
                {
                    "name": "Dia1",
                    "type": "synonym"
                },
                {
                    "name": "Diap1",
                    "type": "synonym"
                },
                {
                    "name": "Diaph1",
                    "type": "synonym"
                },
                {
                    "name": "Drf1",
                    "type": "synonym"
                },
                {
                    "name": "p140mDia",
                    "type": "synonym"
                }
            ],
            "record_id": "O08808-1",
            "evidence": [
                {
                    "id": "0110541",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110541"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60610-1",
            "uniprot_ac": "O60610",
            "uniprot_id": "DIAP1_HUMAN",
            "refseq_ac": "NP_001073280",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein diaphanous homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "DRF1",
                    "type": "synonym"
                },
                {
                    "name": "Diaphanous-related formin-1",
                    "type": "synonym"
                },
                {
                    "name": "mammalian diaphanous related formin 1",
                    "type": "synonym"
                },
                {
                    "name": "protein diaphanous homolog 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein diaphanous homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DIAPH1",
                    "type": "recommended"
                },
                {
                    "name": "DFNA1",
                    "type": "synonym"
                },
                {
                    "name": "DIA1",
                    "type": "synonym"
                },
                {
                    "name": "DIAP1",
                    "type": "synonym"
                },
                {
                    "name": "DIAPH1",
                    "type": "synonym"
                },
                {
                    "name": "DRF1",
                    "type": "synonym"
                },
                {
                    "name": "LFHL1",
                    "type": "synonym"
                },
                {
                    "name": "SCBMS",
                    "type": "synonym"
                },
                {
                    "name": "hDIA1",
                    "type": "synonym"
                },
                {
                    "name": "mDia1",
                    "type": "synonym"
                }
            ],
            "record_id": "O60610-1",
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                    "url": "https://www.omim.org/entry/124900"
                },
                {
                    "id": "0110541",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110541"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41832-1",
            "uniprot_ac": "P41832",
            "uniprot_id": "BNI1_YEAST",
            "refseq_ac": "NP_014128",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein BNI1",
                    "type": "recommended"
                },
                {
                    "name": "Pointed projection formation protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Sensitive to high expression protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Synthetic lethal 39",
                    "type": "synonym"
                },
                {
                    "name": "formin BNI1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BNI1",
                    "type": "recommended"
                },
                {
                    "name": "BNI1",
                    "type": "synonym"
                },
                {
                    "name": "N0646",
                    "type": "synonym"
                },
                {
                    "name": "PPF3",
                    "type": "synonym"
                },
                {
                    "name": "SHE5",
                    "type": "synonym"
                }
            ],
            "record_id": "P41832-1",
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                {
                    "id": "0110541",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110541"
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            ]
        },
        {
            "uniprot_canonical_ac": "P40450-1",
            "uniprot_ac": "P40450",
            "uniprot_id": "BNR1_YEAST",
            "refseq_ac": "NP_012107",
            "glycoprotein": "no",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "BNI1-related protein 1",
                    "type": "recommended"
                },
                {
                    "name": "formin BNR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BNR1",
                    "type": "recommended"
                },
                {
                    "name": "BNR1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40450-1",
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                {
                    "id": "0110541",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110541"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M775-1",
            "uniprot_ac": "F1M775",
            "uniprot_id": "DIAP1_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein diaphanous homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "DRF1",
                    "type": "synonym"
                },
                {
                    "name": "Diaphanous-related formin-1",
                    "type": "synonym"
                },
                {
                    "name": "mDIA1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Diaph1",
                    "type": "recommended"
                },
                {
                    "name": "Diap1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M775-1",
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                {
                    "id": "0110541",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110541"
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            ]
        },
        {
            "uniprot_canonical_ac": "P24594-1",
            "uniprot_ac": "P24594",
            "uniprot_id": "IBP5_RAT",
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            "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": "Insulin-like growth factor-binding protein 5",
                    "type": "recommended"
                },
                {
                    "name": "IBP-5",
                    "type": "synonym"
                },
                {
                    "name": "IGF-binding protein 5",
                    "type": "synonym"
                },
                {
                    "name": "IGFBP-5",
                    "type": "synonym"
                },
                {
                    "name": "insulin-like growth factor-binding protein 5 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Igfbp5",
                    "type": "recommended"
                },
                {
                    "name": "IGF-BP5",
                    "type": "synonym"
                },
                {
                    "name": "Igfbp-5",
                    "type": "synonym"
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                {
                    "name": "Igfbp5",
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                    "id": "0110541",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110541"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48608-1",
            "uniprot_ac": "P48608",
            "uniprot_id": "DIA_DROME",
            "refseq_ac": "NP_001260640",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein diaphanous",
                    "type": "recommended"
                },
                {
                    "name": "CG1768-PE",
                    "type": "synonym"
                },
                {
                    "name": "dia-PE",
                    "type": "synonym"
                },
                {
                    "name": "diaphanous, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "diaphanous",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dia",
                    "type": "recommended"
                },
                {
                    "name": "38E.16",
                    "type": "synonym"
                },
                {
                    "name": "CG1768",
                    "type": "synonym"
                },
                {
                    "name": "DIA",
                    "type": "synonym"
                },
                {
                    "name": "Diaphanous",
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                },
                {
                    "name": "Dias",
                    "type": "synonym"
                },
                {
                    "name": "Dia",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1768",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1768",
                    "type": "synonym"
                },
                {
                    "name": "dia",
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                },
                {
                    "name": "l(2)k07135",
                    "type": "synonym"
                },
                {
                    "name": "ms(2)04138",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0110541",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110541"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110541"
}