{
    "disease_id": "DOID:0110363",
    "recommended_name": {
        "id": "DOID:0110363",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110363",
        "name": "retinitis pigmentosa 71",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23."
    },
    "synonyms": [
        {
            "id": "DOID:0110363",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110363",
            "name": "RP71",
            "description": ""
        },
        {
            "id": "MONDO:0014618",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014618",
            "name": "retinitis pigmentosa 71",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene."
        },
        {
            "id": "MONDO:0014618",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014618",
            "name": "IFT172 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0014618",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014618",
            "name": "RP71",
            "description": ""
        },
        {
            "id": "MONDO:0014618",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014618",
            "name": "retinitis pigmentosa 71",
            "description": ""
        },
        {
            "id": "MONDO:0014618",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014618",
            "name": "retinitis pigmentosa caused by mutation in IFT172",
            "description": ""
        },
        {
            "id": "MONDO:0014618",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014618",
            "name": "retinitis pigmentosa type 71",
            "description": ""
        },
        {
            "id": "MIM:616394",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616394",
            "name": "Retinitis pigmentosa 71",
            "description": "Retinitis pigmentosa 71"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110363"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110363",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110363",
            "categories": []
        },
        {
            "id": "MONDO:0014618",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014618",
            "categories": []
        },
        {
            "id": "MIM:616394",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616394",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5RHH4-1",
            "uniprot_ac": "Q5RHH4",
            "uniprot_id": "IF172_DANRE",
            "refseq_ac": "NP_001002312",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intraflagellar transport protein 172 homolog",
                    "type": "recommended"
                },
                {
                    "name": "LIM-interacting protein",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 172 homolog",
                    "type": "synonym"
                },
                {
                    "name": "moe",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ift172",
                    "type": "recommended"
                },
                {
                    "name": "ift172",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-221h15.5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RHH4-1",
            "evidence": [
                {
                    "id": "0110363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6VH22-1",
            "uniprot_ac": "Q6VH22",
            "uniprot_id": "IF172_MOUSE",
            "refseq_ac": "NP_080574",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intraflagellar transport protein 172 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Protein wimple",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport 172 homolog",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport 172 protein",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 172 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein wimple",
                    "type": "synonym"
                },
                {
                    "name": "selective LIM-binding factor Wimple",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ift172",
                    "type": "recommended"
                },
                {
                    "name": "4930553F24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ift172",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1179",
                    "type": "synonym"
                },
                {
                    "name": "Slb",
                    "type": "synonym"
                },
                {
                    "name": "Wim",
                    "type": "synonym"
                },
                {
                    "name": "avc1",
                    "type": "synonym"
                },
                {
                    "name": "wim",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6VH22-1",
            "evidence": [
                {
                    "id": "0110363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UG01-1",
            "uniprot_ac": "Q9UG01",
            "uniprot_id": "IF172_HUMAN",
            "refseq_ac": "NP_056477",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intraflagellar transport protein 172 homolog",
                    "type": "recommended"
                },
                {
                    "name": "intraflagellar transport 172 homolog",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 172 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "intraflagellar transport protein 172 homolog",
                    "type": "synonym"
                },
                {
                    "name": "selective LIM binding factor homolog",
                    "type": "synonym"
                },
                {
                    "name": "wimple homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IFT172",
                    "type": "recommended"
                },
                {
                    "name": "BBS20",
                    "type": "synonym"
                },
                {
                    "name": "IFT172",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1179",
                    "type": "synonym"
                },
                {
                    "name": "NPHP17",
                    "type": "synonym"
                },
                {
                    "name": "RP71",
                    "type": "synonym"
                },
                {
                    "name": "SLB",
                    "type": "synonym"
                },
                {
                    "name": "SRTD10",
                    "type": "synonym"
                },
                {
                    "name": "osm-1",
                    "type": "synonym"
                },
                {
                    "name": "wim",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UG01-1",
            "evidence": [
                {
                    "id": "616394",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616394"
                },
                {
                    "id": "0110363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JKU3-1",
            "uniprot_ac": "Q9JKU3",
            "uniprot_id": "IF172_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intraflagellar transport protein 172 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Selective LIM-binding factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ift172",
                    "type": "recommended"
                },
                {
                    "name": "AABR07063281.1",
                    "type": "synonym"
                },
                {
                    "name": "Slb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JKU3-1",
            "evidence": [
                {
                    "id": "0110363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W040-1",
            "uniprot_ac": "Q9W040",
            "uniprot_id": "OSM1_DROME",
            "refseq_ac": "NP_647700",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Intraflagellar transport protein 172 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG13809-PB",
                    "type": "synonym"
                },
                {
                    "name": "Oseg2-PB",
                    "type": "synonym"
                },
                {
                    "name": "Osmotic avoidance abnormal protein 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Outer segment 2",
                    "type": "synonym"
                },
                {
                    "name": "osm-1",
                    "type": "synonym"
                },
                {
                    "name": "outer segment 2",
                    "type": "synonym"
                },
                {
                    "name": "selective LIM binding factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Oseg2",
                    "type": "recommended"
                },
                {
                    "name": "CG13809",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13809",
                    "type": "synonym"
                },
                {
                    "name": "IFT172",
                    "type": "synonym"
                },
                {
                    "name": "OSEG2",
                    "type": "synonym"
                },
                {
                    "name": "OSEG",
                    "type": "synonym"
                },
                {
                    "name": "OSM-1",
                    "type": "synonym"
                },
                {
                    "name": "Oseg2",
                    "type": "synonym"
                },
                {
                    "name": "oseg2",
                    "type": "synonym"
                },
                {
                    "name": "osm-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W040-1",
            "evidence": [
                {
                    "id": "0110363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110363"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110363"
}