{
    "disease_id": "DOID:0070605",
    "recommended_name": {
        "id": "DOID:0070605",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070605",
        "name": "autosomal dominant nonsyndromic deafness 85",
        "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the USP48 gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0070605",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070605",
            "name": "DFNA85",
            "description": ""
        },
        {
            "id": "DOID:0070605",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070605",
            "name": "autosomal dominant deafness 85",
            "description": ""
        },
        {
            "id": "MONDO:0859366",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859366",
            "name": "hearing loss, autosomal dominant 85",
            "description": ""
        },
        {
            "id": "MONDO:0859366",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859366",
            "name": "deafness, autosomal dominant 85",
            "description": ""
        },
        {
            "id": "MIM:620227",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620227",
            "name": "Deafness, autosomal dominant, 85",
            "description": "Deafness, autosomal dominant, 85"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070605"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070605",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070605",
            "categories": []
        },
        {
            "id": "MONDO:0859366",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859366",
            "categories": []
        },
        {
            "id": "MIM:620227",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620227",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IB93-1",
            "uniprot_ac": "A0A0R4IB93",
            "uniprot_id": "UBP48_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase 48",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin specific peptidase 48",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "usp48",
                    "type": "recommended"
                },
                {
                    "name": "im:7139343",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112364",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IB93-1",
            "evidence": [
                {
                    "id": "0070605",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070605"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3V0C5-1",
            "uniprot_ac": "Q3V0C5",
            "uniprot_id": "UBP48_MOUSE",
            "refseq_ac": "NP_570949",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase 48",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme 48",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase 48",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific-processing protease 48",
                    "type": "synonym"
                },
                {
                    "name": "deubiquitinating enzyme 48",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 48 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 48",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin specific protease 31",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin specific protease 48",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thioesterase 48",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thiolesterase 48",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-specific-processing protease 48",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Usp48",
                    "type": "recommended"
                },
                {
                    "name": "2810449C13Rik",
                    "type": "synonym"
                },
                {
                    "name": "D330022K21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa4202",
                    "type": "synonym"
                },
                {
                    "name": "Usp31",
                    "type": "synonym"
                },
                {
                    "name": "Usp48",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3V0C5-1",
            "evidence": [
                {
                    "id": "0070605",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070605"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86UV5-1",
            "uniprot_ac": "Q86UV5",
            "uniprot_id": "UBP48_HUMAN",
            "refseq_ac": "NP_001027902",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase 48",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme 48",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase 48",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific peptidase 48",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific protease 48",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific-processing protease 48",
                    "type": "synonym"
                },
                {
                    "name": "deubiquitinating enzyme 48",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 48 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 48",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin specific protease 31",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thioesterase 48",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thiolesterase 48",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-specific-processing protease 48",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "USP48",
                    "type": "recommended"
                },
                {
                    "name": "DFNA85",
                    "type": "synonym"
                },
                {
                    "name": "RAP1GA1",
                    "type": "synonym"
                },
                {
                    "name": "USP31",
                    "type": "synonym"
                },
                {
                    "name": "USP48",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86UV5-1",
            "evidence": [
                {
                    "id": "620227",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620227"
                },
                {
                    "id": "0070605",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070605"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53874-1",
            "uniprot_ac": "P53874",
            "uniprot_id": "UBP10_YEAST",
            "refseq_ac": "NP_014213",
            "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": "Ubiquitin carboxyl-terminal hydrolase 10",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme 10",
                    "type": "synonym"
                },
                {
                    "name": "Disrupter of telomere silencing protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase 10",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific-processing protease 10",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin-specific protease UBP10",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UBP10",
                    "type": "recommended"
                },
                {
                    "name": "DOT4",
                    "type": "synonym"
                },
                {
                    "name": "N1619",
                    "type": "synonym"
                },
                {
                    "name": "UBP10",
                    "type": "synonym"
                }
            ],
            "record_id": "P53874-1",
            "evidence": [
                {
                    "id": "0070605",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070605"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q76LT8-1",
            "uniprot_ac": "Q76LT8",
            "uniprot_id": "UBP48_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": "Ubiquitin carboxyl-terminal hydrolase 48",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme 48",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic ubiquitin-specific protease",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase 48",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific-processing protease 48",
                    "type": "synonym"
                },
                {
                    "name": "synUSP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Usp48",
                    "type": "recommended"
                }
            ],
            "record_id": "Q76LT8-1",
            "evidence": [
                {
                    "id": "0070605",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070605"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070605"
}