{
    "disease_id": "DOID:0112167",
    "recommended_name": {
        "id": "DOID:0112167",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112167",
        "name": "autosomal dominant nonsyndromic deafness 76",
        "description": "An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23."
    },
    "synonyms": [
        {
            "id": "DOID:0112167",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112167",
            "name": "DFNA76",
            "description": ""
        },
        {
            "id": "MONDO:0032917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032917",
            "name": "hearing loss, autosomal dominant 76",
            "description": ""
        },
        {
            "id": "MONDO:0032917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032917",
            "name": "DEAFNESS, AUTOSOMAL DOMINANT 76",
            "description": ""
        },
        {
            "id": "MONDO:0032917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032917",
            "name": "DFNA76",
            "description": ""
        },
        {
            "id": "MONDO:0032917",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032917",
            "name": "deafness, autosomal dominant 76",
            "description": ""
        },
        {
            "id": "MIM:618787",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618787",
            "name": "Deafness, autosomal dominant, 76",
            "description": "Deafness, autosomal dominant, 76"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112167"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112167",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112167",
            "categories": []
        },
        {
            "id": "MONDO:0032917",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032917",
            "categories": []
        },
        {
            "id": "MIM:618787",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618787",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QBL9-1",
            "uniprot_ac": "A0A8M9QBL9",
            "uniprot_id": "A0A8M9QBL9_DANRE",
            "refseq_ac": "XP_021334714",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plastin-1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "plastin-1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pls1",
                    "type": "recommended"
                },
                {
                    "name": "pls1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi38g03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63494",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QBL9-1",
            "evidence": [
                {
                    "id": "0112167",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112167"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3V0K9-1",
            "uniprot_ac": "Q3V0K9",
            "uniprot_id": "PLSI_MOUSE",
            "refseq_ac": "NP_001028382",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plastin-1",
                    "type": "recommended"
                },
                {
                    "name": "I-fimbrin",
                    "type": "synonym"
                },
                {
                    "name": "plastin 1, I",
                    "type": "synonym"
                },
                {
                    "name": "plastin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pls1",
                    "type": "recommended"
                },
                {
                    "name": "Pls1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3V0K9-1",
            "evidence": [
                {
                    "id": "0112167",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112167"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14651-1",
            "uniprot_ac": "Q14651",
            "uniprot_id": "PLSI_HUMAN",
            "refseq_ac": "NP_001138791",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plastin-1",
                    "type": "recommended"
                },
                {
                    "name": "I plastin",
                    "type": "synonym"
                },
                {
                    "name": "I-plastin",
                    "type": "synonym"
                },
                {
                    "name": "Intestine-specific plastin",
                    "type": "synonym"
                },
                {
                    "name": "fimbrin",
                    "type": "synonym"
                },
                {
                    "name": "intestine specific plastin",
                    "type": "synonym"
                },
                {
                    "name": "plastin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLS1",
                    "type": "recommended"
                },
                {
                    "name": "DFNA76",
                    "type": "synonym"
                },
                {
                    "name": "PLS1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14651-1",
            "evidence": [
                {
                    "id": "618787",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618787"
                },
                {
                    "id": "0112167",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112167"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32599-1",
            "uniprot_ac": "P32599",
            "uniprot_id": "FIMB_YEAST",
            "refseq_ac": "NP_010414",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fimbrin",
                    "type": "recommended"
                },
                {
                    "name": "ABP67",
                    "type": "synonym"
                },
                {
                    "name": "fimbrin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SAC6",
                    "type": "recommended"
                },
                {
                    "name": "ABP67",
                    "type": "synonym"
                },
                {
                    "name": "SAC6",
                    "type": "synonym"
                },
                {
                    "name": "YD9302.04C",
                    "type": "synonym"
                }
            ],
            "record_id": "P32599-1",
            "evidence": [
                {
                    "id": "0112167",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112167"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LXW3-1",
            "uniprot_ac": "A0ABK0LXW3",
            "uniprot_id": "A0ABK0LXW3_RAT",
            "refseq_ac": "NP_001101648",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Plastin 1",
                    "type": "synonym"
                },
                {
                    "name": "plastin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pls1",
                    "type": "recommended"
                },
                {
                    "name": "Pls1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LXW3-1",
            "evidence": [
                {
                    "id": "0112167",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112167"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IQZ7-1",
            "uniprot_ac": "Q8IQZ7",
            "uniprot_id": "Q8IQZ7_DROME",
            "refseq_ac": "NP_728074",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG8649-PD",
                    "type": "synonym"
                },
                {
                    "name": "Fim-PD",
                    "type": "synonym"
                },
                {
                    "name": "Fimbrin, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "fimbrin, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "fimbrin",
                    "type": "synonym"
                },
                {
                    "name": "plastin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fim",
                    "type": "recommended"
                },
                {
                    "name": "CG8649",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8649",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8649",
                    "type": "synonym"
                },
                {
                    "name": "FIM",
                    "type": "synonym"
                },
                {
                    "name": "Fim",
                    "type": "synonym"
                },
                {
                    "name": "fim",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IQZ7-1",
            "evidence": [
                {
                    "id": "0112167",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112167"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112167"
}