{
    "disease_id": "DOID:0110519",
    "recommended_name": {
        "id": "DOID:0110519",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110519",
        "name": "autosomal recessive nonsyndromic deafness 68",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110519",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110519",
            "name": "DFNB68",
            "description": ""
        },
        {
            "id": "DOID:0110519",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110519",
            "name": "autosomal recessive deafness 68",
            "description": ""
        },
        {
            "id": "MONDO:0012485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012485",
            "name": "autosomal recessive nonsyndromic hearing loss 68",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene."
        },
        {
            "id": "MONDO:0012485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012485",
            "name": "autosomal recessive nonsyndromic hearing loss 68",
            "description": ""
        },
        {
            "id": "MONDO:0012485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012485",
            "name": "DFNB68",
            "description": ""
        },
        {
            "id": "MONDO:0012485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012485",
            "name": "S1PR2 autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0012485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012485",
            "name": "autosomal recessive deafness 68",
            "description": ""
        },
        {
            "id": "MONDO:0012485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012485",
            "name": "autosomal recessive nonsyndromic deafness 68",
            "description": ""
        },
        {
            "id": "MONDO:0012485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012485",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in S1PR2",
            "description": ""
        },
        {
            "id": "MONDO:0012485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012485",
            "name": "autosomal recessive nonsyndromic deafness type 68",
            "description": ""
        },
        {
            "id": "MONDO:0012485",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012485",
            "name": "deafness, autosomal recessive 68",
            "description": ""
        },
        {
            "id": "MIM:610419",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610419",
            "name": "Deafness, autosomal recessive, 68",
            "description": "Deafness, autosomal recessive, 68"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110519"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110519",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110519",
            "categories": []
        },
        {
            "id": "MONDO:0012485",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012485",
            "categories": []
        },
        {
            "id": "MIM:610419",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610419",
            "categories": []
        }
    ],
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        {
            "uniprot_canonical_ac": "Q9I8K8-1",
            "uniprot_ac": "Q9I8K8",
            "uniprot_id": "S1PR2_DANRE",
            "refseq_ac": "NP_001153442",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sphingosine 1-phosphate receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "S1P receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "S1P receptor Edg-5",
                    "type": "synonym"
                },
                {
                    "name": "S1P2",
                    "type": "synonym"
                },
                {
                    "name": "Sphingosine 1-phosphate receptor Edg-5",
                    "type": "synonym"
                },
                {
                    "name": "endothelial differentiation, sphingolipid G-protein-coupled receptor, 5",
                    "type": "synonym"
                },
                {
                    "name": "miles apart",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine 1-phosphate receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine 1-phosphate receptor Edg-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "s1pr2",
                    "type": "recommended"
                },
                {
                    "name": "edg5",
                    "type": "synonym"
                },
                {
                    "name": "mil",
                    "type": "synonym"
                },
                {
                    "name": "s1p2",
                    "type": "synonym"
                },
                {
                    "name": "s1pr2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9I8K8-1",
            "evidence": [
                {
                    "id": "0110519",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110519"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52592-1",
            "uniprot_ac": "P52592",
            "uniprot_id": "S1PR2_MOUSE",
            "refseq_ac": "NP_034463",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sphingosine 1-phosphate receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "Endothelial differentiation G protein-coupled receptor 5",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor 13",
                    "type": "synonym"
                },
                {
                    "name": "Lysophospholipid receptor B2",
                    "type": "synonym"
                },
                {
                    "name": "S1P receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "S1P receptor Edg-5",
                    "type": "synonym"
                },
                {
                    "name": "S1P2",
                    "type": "synonym"
                },
                {
                    "name": "Sphingosine 1-phosphate receptor Edg-5",
                    "type": "synonym"
                },
                {
                    "name": "endothelial differentiation G-protein coupled receptor 5",
                    "type": "synonym"
                },
                {
                    "name": "endothelial differentiation, sphingolipid G-protein-coupled receptor, 5",
                    "type": "synonym"
                },
                {
                    "name": "lysophospholipid receptor B2",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine 1-phosphate receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine 1-phosphate receptor Edg-5",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine-1-phosphate receptor S1P(2)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "S1pr2",
                    "type": "recommended"
                },
                {
                    "name": "1100001A16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Edg5",
                    "type": "synonym"
                },
                {
                    "name": "Gpcr13",
                    "type": "synonym"
                },
                {
                    "name": "H218",
                    "type": "synonym"
                },
                {
                    "name": "LPb2",
                    "type": "synonym"
                },
                {
                    "name": "Lpb2",
                    "type": "synonym"
                },
                {
                    "name": "S1P2",
                    "type": "synonym"
                },
                {
                    "name": "S1pr2",
                    "type": "synonym"
                }
            ],
            "record_id": "P52592-1",
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                {
                    "id": "0110519",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110519"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95136-1",
            "uniprot_ac": "O95136",
            "uniprot_id": "S1PR2_HUMAN",
            "refseq_ac": "NP_004221",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sphingosine 1-phosphate receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "CTD-2369P2.2",
                    "type": "synonym"
                },
                {
                    "name": "Endothelial differentiation G protein-coupled receptor 5",
                    "type": "synonym"
                },
                {
                    "name": "S1P receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "S1P receptor EDG5",
                    "type": "synonym"
                },
                {
                    "name": "S1P receptor Edg-5",
                    "type": "synonym"
                },
                {
                    "name": "S1P2",
                    "type": "synonym"
                },
                {
                    "name": "Sphingosine 1-phosphate receptor Edg-5",
                    "type": "synonym"
                },
                {
                    "name": "deafness, autosomal recessive 68",
                    "type": "synonym"
                },
                {
                    "name": "endothelial differentiation G-protein coupled receptor 5",
                    "type": "synonym"
                },
                {
                    "name": "endothelial differentiation, sphingolipid G-protein-coupled receptor, 5",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine 1-phosphate receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine 1-phosphate receptor Edg-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "S1PR2",
                    "type": "recommended"
                },
                {
                    "name": "AGR16",
                    "type": "synonym"
                },
                {
                    "name": "DFNB68",
                    "type": "synonym"
                },
                {
                    "name": "EDG-5",
                    "type": "synonym"
                },
                {
                    "name": "EDG5",
                    "type": "synonym"
                },
                {
                    "name": "Gpcr13",
                    "type": "synonym"
                },
                {
                    "name": "H218",
                    "type": "synonym"
                },
                {
                    "name": "LPB2",
                    "type": "synonym"
                },
                {
                    "name": "S1P2",
                    "type": "synonym"
                },
                {
                    "name": "S1PR2",
                    "type": "synonym"
                }
            ],
            "record_id": "O95136-1",
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                {
                    "id": "610419",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610419"
                },
                {
                    "id": "0110519",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110519"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47752-1",
            "uniprot_ac": "P47752",
            "uniprot_id": "S1PR2_RAT",
            "refseq_ac": "NP_058888",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Sphingosine 1-phosphate receptor 2",
                    "type": "recommended"
                },
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                    "name": "AGR16",
                    "type": "synonym"
                },
                {
                    "name": "Endothelial differentiation G protein-coupled receptor 5",
                    "type": "synonym"
                },
                {
                    "name": "G protein-coupled receptor H218",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor 13",
                    "type": "synonym"
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                {
                    "name": "G-protein coupled receptor H218",
                    "type": "synonym"
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                {
                    "name": "S1P receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "S1P receptor Edg-5",
                    "type": "synonym"
                },
                {
                    "name": "S1P2",
                    "type": "synonym"
                },
                {
                    "name": "Sphingosine 1-phosphate receptor Edg-5",
                    "type": "synonym"
                },
                {
                    "name": "endothelial differentiation G-protein coupled receptor 5",
                    "type": "synonym"
                },
                {
                    "name": "endothelial differentiation, sphingolipid G-protein-coupled receptor, 5",
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                },
                {
                    "name": "sphingosine 1-phosphate receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine 1-phosphate receptor Edg-5",
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            ],
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                    "name": "S1pr2",
                    "type": "recommended"
                },
                {
                    "name": "Edg5",
                    "type": "synonym"
                },
                {
                    "name": "GPCR18",
                    "type": "synonym"
                },
                {
                    "name": "Gpcr13",
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                {
                    "name": "H218",
                    "type": "synonym"
                },
                {
                    "name": "S1pr2",
                    "type": "synonym"
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                    "name": "snGPCR18",
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                    "id": "0110519",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110519"
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            ]
        },
        {
            "uniprot_canonical_ac": "Q63648-1",
            "uniprot_ac": "Q63648",
            "uniprot_id": "MERL_RAT",
            "refseq_ac": "NP_037325",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Merlin",
                    "type": "recommended"
                },
                {
                    "name": "Moesin-ezrin-radixin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Neurofibromin-2",
                    "type": "synonym"
                },
                {
                    "name": "Schwannomin",
                    "type": "synonym"
                },
                {
                    "name": "merlin",
                    "type": "synonym"
                },
                {
                    "name": "moesin-ezrin-radixin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "neurofibromatosis 2",
                    "type": "synonym"
                },
                {
                    "name": "neurofibromin-2",
                    "type": "synonym"
                },
                {
                    "name": "schwannomin",
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                }
            ],
            "gene_names": [
                {
                    "name": "Nf2",
                    "type": "recommended"
                },
                {
                    "name": "Nf2",
                    "type": "synonym"
                },
                {
                    "name": "merlin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63648-1",
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                {
                    "id": "0110519",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110519"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110519"
}