{
    "disease_id": "DOID:0112146",
    "recommended_name": {
        "id": "DOID:0112146",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112146",
        "name": "retinitis pigmentosa 89",
        "description": "A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in the KIF3B gene on chromosome 20q11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0112146",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112146",
            "name": "RP89",
            "description": ""
        },
        {
            "id": "MONDO:0030071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030071",
            "name": "retinitis pigmentosa 89",
            "description": ""
        },
        {
            "id": "MONDO:0030071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030071",
            "name": "RETINITIS PIGMENTOSA 89",
            "description": ""
        },
        {
            "id": "MONDO:0030071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030071",
            "name": "RP89",
            "description": ""
        },
        {
            "id": "MONDO:0030071",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030071",
            "name": "retinitis pigmentosa 89",
            "description": ""
        },
        {
            "id": "MIM:618955",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618955",
            "name": "Retinitis pigmentosa 89",
            "description": "Retinitis pigmentosa 89"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112146"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112146",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112146",
            "categories": []
        },
        {
            "id": "MONDO:0030071",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030071",
            "categories": []
        },
        {
            "id": "MIM:618955",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618955",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QN54-1",
            "uniprot_ac": "F1QN54",
            "uniprot_id": "KIF3B_DANRE",
            "refseq_ac": "NP_001093615",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF3B",
                    "type": "recommended"
                },
                {
                    "name": "kinesin-like protein KIF3B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kif3b",
                    "type": "recommended"
                },
                {
                    "name": "kif3b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:165446",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QN54-1",
            "evidence": [
                {
                    "id": "0112146",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112146"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61771-1",
            "uniprot_ac": "Q61771",
            "uniprot_id": "KIF3B_MOUSE",
            "refseq_ac": "NP_032470",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF3B",
                    "type": "recommended"
                },
                {
                    "name": "Microtubule plus end-directed kinesin motor 3B",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF3B",
                    "type": "synonym"
                },
                {
                    "name": "microtubule plus end-directed kinesin motor 3B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif3b",
                    "type": "recommended"
                },
                {
                    "name": "Kif3b",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0359",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61771-1",
            "evidence": [
                {
                    "id": "0112146",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112146"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P56657-1",
            "uniprot_ac": "P56657",
            "uniprot_id": "CP240_MOUSE",
            "refseq_ac": "NP_034134",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 2C40",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.-",
                    "type": "synonym"
                },
                {
                    "name": "CYPIIC40",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 2C40 precursor",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 2C40",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, 2c40",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cyp2c40",
                    "type": "recommended"
                },
                {
                    "name": "Cyp2c40",
                    "type": "synonym"
                }
            ],
            "record_id": "P56657-1",
            "evidence": [
                {
                    "id": "0112146",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112146"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15066-1",
            "uniprot_ac": "O15066",
            "uniprot_id": "KIF3B_HUMAN",
            "refseq_ac": "NP_004789",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF3B",
                    "type": "recommended"
                },
                {
                    "name": "HH0048",
                    "type": "synonym"
                },
                {
                    "name": "Microtubule plus end-directed kinesin motor 3B",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF3B",
                    "type": "synonym"
                },
                {
                    "name": "microtubule plus end-directed kinesin motor 3B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIF3B",
                    "type": "recommended"
                },
                {
                    "name": "FLA8",
                    "type": "synonym"
                },
                {
                    "name": "HH0048",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0359",
                    "type": "synonym"
                },
                {
                    "name": "KIF3B",
                    "type": "synonym"
                },
                {
                    "name": "KLP-11",
                    "type": "synonym"
                },
                {
                    "name": "OTSC12",
                    "type": "synonym"
                },
                {
                    "name": "RP89",
                    "type": "synonym"
                }
            ],
            "record_id": "O15066-1",
            "evidence": [
                {
                    "id": "618955",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618955"
                },
                {
                    "id": "0112146",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112146"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LAF7-1",
            "uniprot_ac": "A0ABK0LAF7",
            "uniprot_id": "A0ABK0LAF7_RAT",
            "refseq_ac": "NP_001099999",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein",
                    "type": "recommended"
                },
                {
                    "name": "kinesin-like protein KIF3B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif3b",
                    "type": "recommended"
                },
                {
                    "name": "Kif3b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LAF7-1",
            "evidence": [
                {
                    "id": "0112146",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112146"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46867-1",
            "uniprot_ac": "P46867",
            "uniprot_id": "KLP68_DROME",
            "refseq_ac": "NP_001261726",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein Klp68D",
                    "type": "recommended"
                },
                {
                    "name": "CG7293-PB",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-2",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin-like protein at 68D, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin1",
                    "type": "synonym"
                },
                {
                    "name": "Klp68D-PB",
                    "type": "synonym"
                },
                {
                    "name": "kinesin II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Klp68D",
                    "type": "recommended"
                },
                {
                    "name": "68D]]",
                    "type": "synonym"
                },
                {
                    "name": "CG7293",
                    "type": "synonym"
                },
                {
                    "name": "DmKlp68D",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7293",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7293",
                    "type": "synonym"
                },
                {
                    "name": "KIF 3B",
                    "type": "synonym"
                },
                {
                    "name": "KIF3B",
                    "type": "synonym"
                },
                {
                    "name": "KLP-5",
                    "type": "synonym"
                },
                {
                    "name": "KLP5",
                    "type": "synonym"
                },
                {
                    "name": "KLP68Ddm",
                    "type": "synonym"
                },
                {
                    "name": "KLP68D",
                    "type": "synonym"
                },
                {
                    "name": "KLP[[64D/68D]]",
                    "type": "synonym"
                },
                {
                    "name": "Klp5",
                    "type": "synonym"
                },
                {
                    "name": "Klp68D",
                    "type": "synonym"
                },
                {
                    "name": "klp68d",
                    "type": "synonym"
                }
            ],
            "record_id": "P46867-1",
            "evidence": [
                {
                    "id": "0112146",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112146"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112146"
}