{
    "disease_id": "DOID:0110406",
    "recommended_name": {
        "id": "DOID:0110406",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110406",
        "name": "retinitis pigmentosa 30",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25."
    },
    "synonyms": [
        {
            "id": "DOID:0110406",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110406",
            "name": "RP30",
            "description": ""
        },
        {
            "id": "MONDO:0011935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011935",
            "name": "retinitis pigmentosa 30",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene."
        },
        {
            "id": "MONDO:0011935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011935",
            "name": "FSCN2 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0011935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011935",
            "name": "RP30",
            "description": ""
        },
        {
            "id": "MONDO:0011935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011935",
            "name": "retinitis pigmentosa 30",
            "description": ""
        },
        {
            "id": "MONDO:0011935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011935",
            "name": "retinitis pigmentosa caused by mutation in FSCN2",
            "description": ""
        },
        {
            "id": "MONDO:0011935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011935",
            "name": "retinitis pigmentosa type 30",
            "description": ""
        },
        {
            "id": "MONDO:0011935",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011935",
            "name": "RP 30",
            "description": ""
        },
        {
            "id": "MIM:607921",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607921",
            "name": "Retinitis pigmentosa 30",
            "description": "Retinitis pigmentosa 30"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110406"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110406",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110406",
            "categories": []
        },
        {
            "id": "MONDO:0011935",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011935",
            "categories": []
        },
        {
            "id": "MIM:607921",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607921",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6YWM1-1",
            "uniprot_ac": "A0A8M6YWM1",
            "uniprot_id": "A0A8M6YWM1_DANRE",
            "refseq_ac": "XP_017210087",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fascin",
                    "type": "recommended"
                },
                {
                    "name": "fascin-2a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fscn2a",
                    "type": "recommended"
                },
                {
                    "name": "fscn2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6YWM1-1",
            "evidence": [
                {
                    "id": "0110406",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110406"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q32M02-1",
            "uniprot_ac": "Q32M02",
            "uniprot_id": "FSCN2_MOUSE",
            "refseq_ac": "NP_766390",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fascin-2",
                    "type": "recommended"
                },
                {
                    "name": "Retinal fascin",
                    "type": "synonym"
                },
                {
                    "name": "fascin homolog 2, actin-bundling protein, retinal",
                    "type": "synonym"
                },
                {
                    "name": "fascin-2",
                    "type": "synonym"
                },
                {
                    "name": "retinal fascin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fscn2",
                    "type": "recommended"
                },
                {
                    "name": "A930022G03",
                    "type": "synonym"
                },
                {
                    "name": "Ahl8",
                    "type": "synonym"
                },
                {
                    "name": "C630046B20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fscn2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q32M02-1",
            "evidence": [
                {
                    "id": "0110406",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110406"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O14926-1",
            "uniprot_ac": "O14926",
            "uniprot_id": "FSCN2_HUMAN",
            "refseq_ac": "NP_001070650",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fascin-2",
                    "type": "recommended"
                },
                {
                    "name": "Retinal fascin",
                    "type": "synonym"
                },
                {
                    "name": "fascin homolog 2, actin-bundling protein, retinal",
                    "type": "synonym"
                },
                {
                    "name": "fascin-2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "fascin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FSCN2",
                    "type": "recommended"
                },
                {
                    "name": "FSCN2",
                    "type": "synonym"
                },
                {
                    "name": "RFSN",
                    "type": "synonym"
                },
                {
                    "name": "RP30",
                    "type": "synonym"
                }
            ],
            "record_id": "O14926-1",
            "evidence": [
                {
                    "id": "607921",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607921"
                },
                {
                    "id": "0110406",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110406"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZX02-1",
            "uniprot_ac": "D3ZX02",
            "uniprot_id": "D3ZX02_RAT",
            "refseq_ac": "NP_001100542",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fascin",
                    "type": "recommended"
                },
                {
                    "name": "fascin homolog 2, actin-bundling protein, retinal",
                    "type": "synonym"
                },
                {
                    "name": "fascin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fscn2",
                    "type": "recommended"
                },
                {
                    "name": "Fscn2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZX02-1",
            "evidence": [
                {
                    "id": "0110406",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110406"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64259-1",
            "uniprot_ac": "Q64259",
            "uniprot_id": "VHL_RAT",
            "refseq_ac": "NP_434688",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "von Hippel-Lindau disease tumor suppressor",
                    "type": "recommended"
                },
                {
                    "name": "pVHL",
                    "type": "synonym"
                },
                {
                    "name": "von Hippel-Lindau disease tumor suppressor",
                    "type": "synonym"
                },
                {
                    "name": "von Hippel-Lindau protein",
                    "type": "synonym"
                },
                {
                    "name": "von Hippel-Lindau syndrome homolog",
                    "type": "synonym"
                },
                {
                    "name": "von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vhl",
                    "type": "recommended"
                },
                {
                    "name": "Vhlh",
                    "type": "synonym"
                },
                {
                    "name": "Vhl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64259-1",
            "evidence": [
                {
                    "id": "0110406",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110406"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24524-1",
            "uniprot_ac": "Q24524",
            "uniprot_id": "SING_DROME",
            "refseq_ac": "NP_001162697",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein singed",
                    "type": "recommended"
                },
                {
                    "name": "CG32858-PE",
                    "type": "synonym"
                },
                {
                    "name": "fascin",
                    "type": "synonym"
                },
                {
                    "name": "singed, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "singed",
                    "type": "synonym"
                },
                {
                    "name": "sn-PE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sn",
                    "type": "recommended"
                },
                {
                    "name": "CG15331",
                    "type": "synonym"
                },
                {
                    "name": "CG1536",
                    "type": "synonym"
                },
                {
                    "name": "CG32858",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32858",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32858",
                    "type": "synonym"
                },
                {
                    "name": "Fascin",
                    "type": "synonym"
                },
                {
                    "name": "Fscn",
                    "type": "synonym"
                },
                {
                    "name": "SN",
                    "type": "synonym"
                },
                {
                    "name": "Singed",
                    "type": "synonym"
                },
                {
                    "name": "Sn",
                    "type": "synonym"
                },
                {
                    "name": "fascin",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)A1057",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)K1421",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)K418",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)K473",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)K743",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)M45",
                    "type": "synonym"
                },
                {
                    "name": "fscn",
                    "type": "synonym"
                },
                {
                    "name": "sn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24524-1",
            "evidence": [
                {
                    "id": "0110406",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110406"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110406"
}