{
    "disease_id": "DOID:0110465",
    "recommended_name": {
        "id": "DOID:0110465",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110465",
        "name": "autosomal recessive nonsyndromic deafness 104",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22."
    },
    "synonyms": [
        {
            "id": "DOID:0110465",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110465",
            "name": "DFNB104",
            "description": ""
        },
        {
            "id": "DOID:0110465",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110465",
            "name": "autosomal recessive deafness 104",
            "description": ""
        },
        {
            "id": "MONDO:0014675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014675",
            "name": "autosomal recessive nonsyndromic hearing loss 104",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene."
        },
        {
            "id": "MONDO:0014675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014675",
            "name": "DFNB104",
            "description": ""
        },
        {
            "id": "MONDO:0014675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014675",
            "name": "RIPOR2 autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0014675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014675",
            "name": "autosomal recessive deafness 104",
            "description": ""
        },
        {
            "id": "MONDO:0014675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014675",
            "name": "autosomal recessive nonsyndromic deafness 104",
            "description": ""
        },
        {
            "id": "MONDO:0014675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014675",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in RIPOR2",
            "description": ""
        },
        {
            "id": "MONDO:0014675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014675",
            "name": "autosomal recessive nonsyndromic deafness type 104",
            "description": ""
        },
        {
            "id": "MONDO:0014675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014675",
            "name": "deafness, autosomal recessive 104",
            "description": ""
        },
        {
            "id": "MONDO:0014675",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014675",
            "name": "deafness, autosomal recessive type 104",
            "description": ""
        },
        {
            "id": "MIM:616515",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616515",
            "name": "Deafness, autosomal recessive, 104",
            "description": "Deafness, autosomal recessive, 104"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110465"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110465",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110465",
            "categories": []
        },
        {
            "id": "MONDO:0014675",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014675",
            "categories": []
        },
        {
            "id": "MIM:616515",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616515",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1LU99-1",
            "uniprot_ac": "Q1LU99",
            "uniprot_id": "RIPR2_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": "Rho family-interacting cell polarization regulator 2",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "ripor2",
                    "type": "recommended"
                },
                {
                    "name": "fam65b",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-81e5.1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-218n20.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1LU99-1",
            "evidence": [
                {
                    "id": "0110465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80U16-1",
            "uniprot_ac": "Q80U16",
            "uniprot_id": "RIPR2_MOUSE",
            "refseq_ac": "NP_001073850",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho family-interacting cell polarization regulator 2",
                    "type": "recommended"
                },
                {
                    "name": "family with sequence similarity 65, member B",
                    "type": "synonym"
                },
                {
                    "name": "protein FAM65B",
                    "type": "synonym"
                },
                {
                    "name": "rho family-interacting cell polarization regulator 2 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ripor2",
                    "type": "recommended"
                },
                {
                    "name": "Fam65b",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0386",
                    "type": "synonym"
                },
                {
                    "name": "Ripor2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80U16-1",
            "evidence": [
                {
                    "id": "0110465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y4F9-1",
            "uniprot_ac": "Q9Y4F9",
            "uniprot_id": "RIPR2_HUMAN",
            "refseq_ac": "NP_001273375",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho family-interacting cell polarization regulator 2",
                    "type": "recommended"
                },
                {
                    "name": "family with sequence similarity 65 member B",
                    "type": "synonym"
                },
                {
                    "name": "myogenesis-related and NCAM-associated protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein FAM65B",
                    "type": "synonym"
                },
                {
                    "name": "rho family-interacting cell polarization regulator 2 isoform 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RIPOR2",
                    "type": "recommended"
                },
                {
                    "name": "C6orf32",
                    "type": "synonym"
                },
                {
                    "name": "DFNA21",
                    "type": "synonym"
                },
                {
                    "name": "DFNB104",
                    "type": "synonym"
                },
                {
                    "name": "DIFF40",
                    "type": "synonym"
                },
                {
                    "name": "DIFF48",
                    "type": "synonym"
                },
                {
                    "name": "FAM65B",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0386",
                    "type": "synonym"
                },
                {
                    "name": "MYONAP",
                    "type": "synonym"
                },
                {
                    "name": "PL48",
                    "type": "synonym"
                },
                {
                    "name": "RIPOR2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y4F9-1",
            "evidence": [
                {
                    "id": "616515",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616515"
                },
                {
                    "id": "0110465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TP54-1",
            "uniprot_ac": "Q7TP54",
            "uniprot_id": "RIPR2_RAT",
            "refseq_ac": "NP_001014031",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho family-interacting cell polarization regulator 2",
                    "type": "recommended"
                },
                {
                    "name": "family with sequence similarity 65, member B",
                    "type": "synonym"
                },
                {
                    "name": "protein FAM65B",
                    "type": "synonym"
                },
                {
                    "name": "rho family-interacting cell polarization regulator 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ripor2",
                    "type": "recommended"
                },
                {
                    "name": "Ab2-162",
                    "type": "synonym"
                },
                {
                    "name": "Fam65b",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306939",
                    "type": "synonym"
                },
                {
                    "name": "Ripor2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TP54-1",
            "evidence": [
                {
                    "id": "0110465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110465"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110465"
}