{
    "disease_id": "DOID:0110486",
    "recommended_name": {
        "id": "DOID:0110486",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110486",
        "name": "autosomal recessive nonsyndromic deafness 28",
        "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 TRIOBP gene on chromosome 22q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110486",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110486",
            "name": "DFNB28",
            "description": ""
        },
        {
            "id": "DOID:0110486",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110486",
            "name": "autosomal recessive deafness 28",
            "description": ""
        },
        {
            "id": "MONDO:0012355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012355",
            "name": "autosomal recessive nonsyndromic hearing loss 28",
            "description": "An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss."
        },
        {
            "id": "MONDO:0012355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012355",
            "name": "autosomal recessive nonsyndromic hearing loss 28",
            "description": ""
        },
        {
            "id": "MONDO:0012355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012355",
            "name": "DFNB28",
            "description": ""
        },
        {
            "id": "MONDO:0012355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012355",
            "name": "TRIOBP autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0012355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012355",
            "name": "autosomal recessive deafness 28",
            "description": ""
        },
        {
            "id": "MONDO:0012355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012355",
            "name": "autosomal recessive nonsyndromic deafness 28",
            "description": ""
        },
        {
            "id": "MONDO:0012355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012355",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in TRIOBP",
            "description": ""
        },
        {
            "id": "MONDO:0012355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012355",
            "name": "autosomal recessive nonsyndromic deafness type 28",
            "description": ""
        },
        {
            "id": "MONDO:0012355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012355",
            "name": "deafness, autosomal recessive 28",
            "description": ""
        },
        {
            "id": "MONDO:0012355",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012355",
            "name": "deafness, autosomal recessive type 28",
            "description": ""
        },
        {
            "id": "MIM:609823",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609823",
            "name": "Deafness, autosomal recessive, 28",
            "description": "Deafness, autosomal recessive, 28"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110486"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110486",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110486",
            "categories": []
        },
        {
            "id": "MONDO:0012355",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012355",
            "categories": []
        },
        {
            "id": "MIM:609823",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609823",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58IZQ0-1",
            "uniprot_ac": "A0AC58IZQ0",
            "uniprot_id": "A0AC58IZQ0_DANRE",
            "refseq_ac": "XP_073799704",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "TRIO and F-actin binding protein b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "triobpb",
                    "type": "recommended"
                },
                {
                    "name": "fi20a11",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-211l13.4",
                    "type": "synonym"
                },
                {
                    "name": "triobpb",
                    "type": "synonym"
                },
                {
                    "name": "triobp",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi20a11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:158267",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58IZQ0-1",
            "evidence": [
                {
                    "id": "0110486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110486"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3B0C4-1",
            "uniprot_ac": "A0A8M3B0C4",
            "uniprot_id": "A0A8M3B0C4_DANRE",
            "refseq_ac": "XP_009296900",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein triobpa isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein triobpa isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "triobpa",
                    "type": "recommended"
                },
                {
                    "name": "triobpa",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3B0C4-1",
            "evidence": [
                {
                    "id": "0110486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110486"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99KW3-3",
            "uniprot_ac": "Q99KW3",
            "uniprot_id": "TARA_MOUSE",
            "refseq_ac": "NP_001034244",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "TRIO and F-actin-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "Protein Tara",
                    "type": "synonym"
                },
                {
                    "name": "TRIO and F-actin-binding protein isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "Trio-associated repeat on actin",
                    "type": "synonym"
                },
                {
                    "name": "protein Tara",
                    "type": "synonym"
                },
                {
                    "name": "trio-associated repeat on actin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Triobp",
                    "type": "recommended"
                },
                {
                    "name": "EST478828",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1662",
                    "type": "synonym"
                },
                {
                    "name": "Tara",
                    "type": "synonym"
                },
                {
                    "name": "Triobp",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1662",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99KW3-3",
            "evidence": [
                {
                    "id": "0110486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110486"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H2D6-1",
            "uniprot_ac": "Q9H2D6",
            "uniprot_id": "TARA_HUMAN",
            "refseq_ac": "NP_001034230",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "TRIO and F-actin-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "Protein Tara",
                    "type": "synonym"
                },
                {
                    "name": "TRF1-associated protein of 68 kDa",
                    "type": "synonym"
                },
                {
                    "name": "TRIO and F-actin-binding protein isoform 6",
                    "type": "synonym"
                },
                {
                    "name": "Trio-associated repeat on actin",
                    "type": "synonym"
                },
                {
                    "name": "protein Tara",
                    "type": "synonym"
                },
                {
                    "name": "tara-like protein",
                    "type": "synonym"
                },
                {
                    "name": "trio-associated repeat on actin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRIOBP",
                    "type": "recommended"
                },
                {
                    "name": "DFNB28",
                    "type": "synonym"
                },
                {
                    "name": "HRIHFB2122",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1662",
                    "type": "synonym"
                },
                {
                    "name": "TAP68",
                    "type": "synonym"
                },
                {
                    "name": "TARA",
                    "type": "synonym"
                },
                {
                    "name": "TRIOBP",
                    "type": "synonym"
                },
                {
                    "name": "dJ37E16.4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H2D6-1",
            "evidence": [
                {
                    "id": "609823",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609823"
                },
                {
                    "id": "0110486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110486"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LC42-1",
            "uniprot_ac": "A0ABK0LC42",
            "uniprot_id": "A0ABK0LC42_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": "TRIO and F-actin binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Triobp",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LC42-1",
            "evidence": [
                {
                    "id": "0110486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110486"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q27421-4",
            "uniprot_ac": "Q27421",
            "uniprot_id": "OSP_DROME",
            "refseq_ac": "NP_001137826",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein outspread",
                    "type": "recommended"
                },
                {
                    "name": "CG3479-PC",
                    "type": "synonym"
                },
                {
                    "name": "arc-like wing",
                    "type": "synonym"
                },
                {
                    "name": "arclike wing",
                    "type": "synonym"
                },
                {
                    "name": "osp-PC",
                    "type": "synonym"
                },
                {
                    "name": "outspread, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "osp",
                    "type": "recommended"
                },
                {
                    "name": "BG:DS01486.5",
                    "type": "synonym"
                },
                {
                    "name": "BG:DS01486.7",
                    "type": "synonym"
                },
                {
                    "name": "BG:DS07721.2",
                    "type": "synonym"
                },
                {
                    "name": "CG3479",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3479",
                    "type": "synonym"
                },
                {
                    "name": "alw",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO02059370.75",
                    "type": "synonym"
                },
                {
                    "name": "l(2)rJ571",
                    "type": "synonym"
                },
                {
                    "name": "osp",
                    "type": "synonym"
                },
                {
                    "name": "v(2)rJ571",
                    "type": "synonym"
                }
            ],
            "record_id": "Q27421-4",
            "evidence": [
                {
                    "id": "0110486",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110486"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110486"
}