{
    "disease_id": "DOID:0110540",
    "recommended_name": {
        "id": "DOID:0110540",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110540",
        "name": "autosomal recessive nonsyndromic deafness 98",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TSPEAR gene on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "DOID:0110540",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110540",
            "name": "DFNB98",
            "description": ""
        },
        {
            "id": "DOID:0110540",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110540",
            "name": "autosomal recessive deafness 98",
            "description": ""
        },
        {
            "id": "MONDO:0013929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013929",
            "name": "autosomal recessive nonsyndromic hearing loss 98",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene."
        },
        {
            "id": "MONDO:0013929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013929",
            "name": "autosomal recessive nonsyndromic hearing loss 98",
            "description": ""
        },
        {
            "id": "MONDO:0013929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013929",
            "name": "DFNB98",
            "description": ""
        },
        {
            "id": "MONDO:0013929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013929",
            "name": "TSPEAR autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0013929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013929",
            "name": "autosomal recessive deafness 98",
            "description": ""
        },
        {
            "id": "MONDO:0013929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013929",
            "name": "autosomal recessive nonsyndromic deafness 98",
            "description": ""
        },
        {
            "id": "MONDO:0013929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013929",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in TSPEAR",
            "description": ""
        },
        {
            "id": "MONDO:0013929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013929",
            "name": "autosomal recessive nonsyndromic deafness type 98",
            "description": ""
        },
        {
            "id": "MONDO:0013929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013929",
            "name": "deafness, autosomal recessive 98",
            "description": ""
        },
        {
            "id": "MONDO:0013929",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013929",
            "name": "deafness, autosomal recessive type 98",
            "description": ""
        },
        {
            "id": "MIM:614861",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614861",
            "name": "Deafness, autosomal recessive, 98",
            "description": "Deafness, autosomal recessive, 98"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110540"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110540",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110540",
            "categories": []
        },
        {
            "id": "MONDO:0013929",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013929",
            "categories": []
        },
        {
            "id": "MIM:614861",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614861",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F9F5-1",
            "uniprot_ac": "E7F9F5",
            "uniprot_id": "E7F9F5_DANRE",
            "refseq_ac": "XP_682770",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thrombospondin-type laminin G domain and EAR repeat-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin-type laminin G domain and EAR repeat-containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tspearb",
                    "type": "recommended"
                },
                {
                    "name": "tspearb",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F9F5-1",
            "evidence": [
                {
                    "id": "0110540",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110540"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7EY40-1",
            "uniprot_ac": "E7EY40",
            "uniprot_id": "E7EY40_DANRE",
            "refseq_ac": "XP_698991",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thrombospondin-type laminin G domain and EAR repeat-containing protein isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin-type laminin G domain and EAR repeat-containing protein isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tspeara",
                    "type": "recommended"
                },
                {
                    "name": "tspeara",
                    "type": "synonym"
                }
            ],
            "record_id": "E7EY40-1",
            "evidence": [
                {
                    "id": "0110540",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110540"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "J3S6Y1-1",
            "uniprot_ac": "J3S6Y1",
            "uniprot_id": "TSEAR_MOUSE",
            "refseq_ac": "NP_001274003",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thrombospondin-type laminin G domain and EAR repeat-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "TSP-EAR",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin N-terminal domain/EPTP protein 1",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin-type laminin G domain and EAR repeat-containing protein precursor",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin-type laminin G domain and EAR repeat-containing protein",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin-type laminin G domain and EAR repeats protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tspear",
                    "type": "recommended"
                },
                {
                    "name": "C330046G03Rik",
                    "type": "synonym"
                },
                {
                    "name": "ORF65",
                    "type": "synonym"
                },
                {
                    "name": "TSP-EAR",
                    "type": "synonym"
                },
                {
                    "name": "Tnep1",
                    "type": "synonym"
                },
                {
                    "name": "Tspear",
                    "type": "synonym"
                }
            ],
            "record_id": "J3S6Y1-1",
            "evidence": [
                {
                    "id": "0110540",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110540"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WU66-1",
            "uniprot_ac": "Q8WU66",
            "uniprot_id": "TSEAR_HUMAN",
            "refseq_ac": "NP_001258966",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thrombospondin-type laminin G domain and EAR repeat-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "TSP-EAR",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin-type laminin G domain and EAR repeat-containing protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "thrombospondin-type laminin G domain and EAR repeats-containing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TSPEAR",
                    "type": "recommended"
                },
                {
                    "name": "C21orf29",
                    "type": "synonym"
                },
                {
                    "name": "DFNB98",
                    "type": "synonym"
                },
                {
                    "name": "ECTD14",
                    "type": "synonym"
                },
                {
                    "name": "STHAG10",
                    "type": "synonym"
                },
                {
                    "name": "TSP-EAR",
                    "type": "synonym"
                },
                {
                    "name": "TSPEAR",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WU66-1",
            "evidence": [
                {
                    "id": "614861",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614861"
                },
                {
                    "id": "0110540",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110540"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LTU1-1",
            "uniprot_ac": "F1LTU1",
            "uniprot_id": "F1LTU1_RAT",
            "refseq_ac": "NP_001418967",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Thrombospondin-type laminin G domain and EAR repeats",
                    "type": "synonym"
                },
                {
                    "name": "protein TSPEAR isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein TSPEAR",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tspear",
                    "type": "recommended"
                },
                {
                    "name": "RGD1563108",
                    "type": "synonym"
                },
                {
                    "name": "Tspear",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LTU1-1",
            "evidence": [
                {
                    "id": "0110540",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110540"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8DQW8-1",
            "uniprot_ac": "A8DQW8",
            "uniprot_id": "A8DQW8_DROME",
            "refseq_ac": "NP_001097246",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42600-PD",
                    "type": "synonym"
                },
                {
                    "name": "Closca",
                    "type": "synonym"
                },
                {
                    "name": "clos-PD",
                    "type": "synonym"
                },
                {
                    "name": "closca",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "clos",
                    "type": "recommended"
                },
                {
                    "name": "CG12927",
                    "type": "synonym"
                },
                {
                    "name": "CG12928",
                    "type": "synonym"
                },
                {
                    "name": "CG1863",
                    "type": "synonym"
                },
                {
                    "name": "CG33479",
                    "type": "synonym"
                },
                {
                    "name": "CG34364",
                    "type": "synonym"
                },
                {
                    "name": "CG42600",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42600",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42600",
                    "type": "synonym"
                },
                {
                    "name": "clos",
                    "type": "synonym"
                }
            ],
            "record_id": "A8DQW8-1",
            "evidence": [
                {
                    "id": "0110540",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110540"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110540"
}