{
    "disease_id": "DOID:0111643",
    "recommended_name": {
        "id": "DOID:0111643",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111643",
        "name": "autosomal recessive nonsyndromic deafness 115",
        "description": "An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111643",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111643",
            "name": "DFNB115",
            "description": ""
        },
        {
            "id": "DOID:0111643",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111643",
            "name": "autosomal recessive deafness 115",
            "description": ""
        },
        {
            "id": "MONDO:0032762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032762",
            "name": "hearing loss, autosomal recessive 115",
            "description": ""
        },
        {
            "id": "MONDO:0032762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032762",
            "name": "DFNB115",
            "description": ""
        },
        {
            "id": "MONDO:0032762",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032762",
            "name": "deafness, autosomal recessive 115",
            "description": ""
        },
        {
            "id": "MIM:618457",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618457",
            "name": "Deafness, autosomal recessive, 115",
            "description": "Deafness, autosomal recessive, 115"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111643"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111643",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111643",
            "categories": []
        },
        {
            "id": "MONDO:0032762",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032762",
            "categories": []
        },
        {
            "id": "MIM:618457",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618457",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2SWM2-1",
            "uniprot_ac": "A2SWM2",
            "uniprot_id": "SPNS2_DANRE",
            "refseq_ac": "NP_001077316",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sphingosine-1-phosphate transporter SPNS2",
                    "type": "recommended"
                },
                {
                    "name": "Protein spinster homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein two of hearts",
                    "type": "synonym"
                },
                {
                    "name": "protein spinster homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "protein two of hearts",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine-1-phosphate transporter SPNS2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine-1-phosphate transporter SPNS2",
                    "type": "synonym"
                },
                {
                    "name": "two of hearts",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spns2",
                    "type": "recommended"
                },
                {
                    "name": "fi20h04",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-7b17.4",
                    "type": "synonym"
                },
                {
                    "name": "spns2",
                    "type": "synonym"
                },
                {
                    "name": "toh",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi20h04",
                    "type": "synonym"
                }
            ],
            "record_id": "A2SWM2-1",
            "evidence": [
                {
                    "id": "0111643",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111643"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91VM4-1",
            "uniprot_ac": "Q91VM4",
            "uniprot_id": "SPNS2_MOUSE",
            "refseq_ac": "NP_694700",
            "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 transporter SPNS2",
                    "type": "recommended"
                },
                {
                    "name": "Protein spinster homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Spinster homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Spns2",
                    "type": "synonym"
                },
                {
                    "name": "protein spinster homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine-1-phosphate transporter SPNS2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine-1-phosphate transporter SPNS2",
                    "type": "synonym"
                },
                {
                    "name": "spinster-like protein",
                    "type": "synonym"
                },
                {
                    "name": "spinster2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spns2",
                    "type": "recommended"
                },
                {
                    "name": "Spns2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q91VM4-1",
            "evidence": [
                {
                    "id": "0111643",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111643"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IVW8-1",
            "uniprot_ac": "Q8IVW8",
            "uniprot_id": "SPNS2_HUMAN",
            "refseq_ac": "NP_001118230",
            "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 transporter SPNS2",
                    "type": "recommended"
                },
                {
                    "name": "Protein spinster homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "SPNS sphingolipid transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "protein spinster homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 63 member 2",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine-1-phosphate transporter SPNS2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPNS2",
                    "type": "recommended"
                },
                {
                    "name": "DFNB115",
                    "type": "synonym"
                },
                {
                    "name": "SLC62A2",
                    "type": "synonym"
                },
                {
                    "name": "SLC63A2",
                    "type": "synonym"
                },
                {
                    "name": "SPNS2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IVW8-1",
            "evidence": [
                {
                    "id": "618457",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618457"
                },
                {
                    "id": "0111643",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111643"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZPS4-1",
            "uniprot_ac": "D3ZPS4",
            "uniprot_id": "D3ZPS4_RAT",
            "refseq_ac": "NP_001376184",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SPNS lysolipid transporter 2, sphingosine-1-phosphate",
                    "type": "synonym"
                },
                {
                    "name": "protein spinster homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "sphingolipid transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "sphingosine-1-phosphate transporter SPNS2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spns2",
                    "type": "recommended"
                },
                {
                    "name": "Spns2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZPS4-1",
            "evidence": [
                {
                    "id": "0111643",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111643"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9GQQ0-1",
            "uniprot_ac": "Q9GQQ0",
            "uniprot_id": "SPIN_DROME",
            "refseq_ac": "NP_524823",
            "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 spinster",
                    "type": "recommended"
                },
                {
                    "name": "CG8428-PD",
                    "type": "synonym"
                },
                {
                    "name": "Protein benchwarmer",
                    "type": "synonym"
                },
                {
                    "name": "Protein diphthong",
                    "type": "synonym"
                },
                {
                    "name": "Spinster/Benchwarmer",
                    "type": "synonym"
                },
                {
                    "name": "benchwarmer",
                    "type": "synonym"
                },
                {
                    "name": "diphthong",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) W5",
                    "type": "synonym"
                },
                {
                    "name": "spin-PD",
                    "type": "synonym"
                },
                {
                    "name": "spinster, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "spinster",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spin",
                    "type": "recommended"
                },
                {
                    "name": "25/11",
                    "type": "synonym"
                },
                {
                    "name": "CG8428",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8428",
                    "type": "synonym"
                },
                {
                    "name": "Spin",
                    "type": "synonym"
                },
                {
                    "name": "bnch",
                    "type": "synonym"
                },
                {
                    "name": "l(2)10403",
                    "type": "synonym"
                },
                {
                    "name": "l(2)W5",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k02511",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k09905",
                    "type": "synonym"
                },
                {
                    "name": "l(2R)W5",
                    "type": "synonym"
                },
                {
                    "name": "spin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9GQQ0-1",
            "evidence": [
                {
                    "id": "0111643",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111643"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111643"
}