{
    "disease_id": "DOID:0080269",
    "recommended_name": {
        "id": "DOID:0080269",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080269",
        "name": "autosomal dominant nonsyndromic deafness 73",
        "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0033260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033260",
            "name": "hearing loss, autosomal dominant 73",
            "description": ""
        },
        {
            "id": "MONDO:0033260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033260",
            "name": "DFNA73",
            "description": ""
        },
        {
            "id": "MONDO:0033260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033260",
            "name": "autosomal dominant nonsyndromic deafness 73",
            "description": ""
        },
        {
            "id": "MONDO:0033260",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033260",
            "name": "deafness, autosomal dominant 73",
            "description": ""
        },
        {
            "id": "MIM:617663",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617663",
            "name": "Deafness, autosomal dominant, 73",
            "description": "Deafness, autosomal dominant, 73"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080269"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080269",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080269",
            "categories": []
        },
        {
            "id": "MONDO:0033260",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033260",
            "categories": []
        },
        {
            "id": "MIM:617663",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617663",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P0C5E4-1",
            "uniprot_ac": "P0C5E4",
            "uniprot_id": "PTPRQ_MOUSE",
            "refseq_ac": "NP_001074901",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol phosphatase PTPRQ",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.67",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.86",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.95",
                    "type": "synonym"
                },
                {
                    "name": "PTP-RQ",
                    "type": "synonym"
                },
                {
                    "name": "R-PTP-Q",
                    "type": "synonym"
                },
                {
                    "name": "Receptor-type tyrosine-protein phosphatase Q",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol phosphatase PTPRQ isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol phosphatase PTPRQ",
                    "type": "synonym"
                },
                {
                    "name": "phosphotidylinositol phosphatase PTPRQ",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptprq",
                    "type": "recommended"
                },
                {
                    "name": "Ptprq",
                    "type": "synonym"
                },
                {
                    "name": "R-PTP-Q",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C5E4-1",
            "evidence": [
                {
                    "id": "0080269",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080269"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UMZ3-1",
            "uniprot_ac": "Q9UMZ3",
            "uniprot_id": "PTPRQ_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol phosphatase PTPRQ",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.67",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.86",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.95",
                    "type": "synonym"
                },
                {
                    "name": "PTP-RQ",
                    "type": "synonym"
                },
                {
                    "name": "R-PTP-Q",
                    "type": "synonym"
                },
                {
                    "name": "Receptor-type tyrosine-protein phosphatase Q",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PTPRQ",
                    "type": "recommended"
                }
            ],
            "record_id": "Q9UMZ3-1",
            "evidence": [
                {
                    "id": "617663",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617663"
                },
                {
                    "id": "0080269",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080269"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O88488-1",
            "uniprot_ac": "O88488",
            "uniprot_id": "PTPRQ_RAT",
            "refseq_ac": "NP_075214",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol phosphatase PTPRQ",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.36",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.67",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.86",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.95",
                    "type": "synonym"
                },
                {
                    "name": "PTP-RQ",
                    "type": "synonym"
                },
                {
                    "name": "Protein-tyrosine phosphatase receptor-type expressed by glomerular mesangial cells protein 1",
                    "type": "synonym"
                },
                {
                    "name": "R-PTP-Q",
                    "type": "synonym"
                },
                {
                    "name": "Receptor-type tyrosine-protein phosphatase Q",
                    "type": "synonym"
                },
                {
                    "name": "glomerular mesangial cell receptor protein-tyrosine phosphatase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol phosphatase PTPRQ precursor",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol phosphatase PTPRQ",
                    "type": "synonym"
                },
                {
                    "name": "phosphotidylinositol phosphatase PTPRQ",
                    "type": "synonym"
                },
                {
                    "name": "protein-tyrosine phosphatase receptor-type expressed by glomerular mesangial cells protein 1",
                    "type": "synonym"
                },
                {
                    "name": "rPTP-GMC1",
                    "type": "synonym"
                },
                {
                    "name": "receptor-type tyrosine-protein phosphatase Q",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ptprq",
                    "type": "recommended"
                },
                {
                    "name": "Ptpgmc1",
                    "type": "synonym"
                },
                {
                    "name": "Ptprq",
                    "type": "synonym"
                },
                {
                    "name": "rPTP-GMC1",
                    "type": "synonym"
                }
            ],
            "record_id": "O88488-1",
            "evidence": [
                {
                    "id": "0080269",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080269"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080269"
}