{
    "disease_id": "DOID:0112143",
    "recommended_name": {
        "id": "DOID:0112143",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112143",
        "name": "retinitis pigmentosa 86",
        "description": "A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in the KIAA1549 gene on chromosome 7q34."
    },
    "synonyms": [
        {
            "id": "DOID:0112143",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112143",
            "name": "RP86",
            "description": ""
        },
        {
            "id": "MONDO:0032834",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032834",
            "name": "retinitis pigmentosa 86",
            "description": ""
        },
        {
            "id": "MONDO:0032834",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032834",
            "name": "RP86",
            "description": ""
        },
        {
            "id": "MIM:618613",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618613",
            "name": "Retinitis pigmentosa 86",
            "description": "Retinitis pigmentosa 86"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112143"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112143",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112143",
            "categories": []
        },
        {
            "id": "MONDO:0032834",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032834",
            "categories": []
        },
        {
            "id": "MIM:618613",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618613",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6YX83-1",
            "uniprot_ac": "A0A8M6YX83",
            "uniprot_id": "A0A8M6YX83_DANRE",
            "refseq_ac": "XP_017210771",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "UPF0606 protein KIAA1549 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "si:dkeyp-27e10.3",
                    "type": "recommended"
                },
                {
                    "name": "si:dkeyp-27e10.3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6YX83-1",
            "evidence": [
                {
                    "id": "0112143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112143"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68FD9-1",
            "uniprot_ac": "Q68FD9",
            "uniprot_id": "K1549_MOUSE",
            "refseq_ac": "NP_918950",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "UPF0606 protein KIAA1549",
                    "type": "recommended"
                },
                {
                    "name": "UPF0606 protein KIAA1549 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "D630045J12Rik",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa1549",
                    "type": "recommended"
                },
                {
                    "name": "D630045J12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1549",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1549",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68FD9-1",
            "evidence": [
                {
                    "id": "0112143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112143"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HCM3-1",
            "uniprot_ac": "Q9HCM3",
            "uniprot_id": "K1549_HUMAN",
            "refseq_ac": "NP_001158137",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "UPF0606 protein KIAA1549",
                    "type": "recommended"
                },
                {
                    "name": "UPF0606 protein KIAA1549 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIAA1549",
                    "type": "recommended"
                },
                {
                    "name": "KIAA1549",
                    "type": "synonym"
                },
                {
                    "name": "RP86",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HCM3-1",
            "evidence": [
                {
                    "id": "618613",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618613"
                },
                {
                    "id": "0112143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112143"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z9D0-1",
            "uniprot_ac": "D3Z9D0",
            "uniprot_id": "D3Z9D0_RAT",
            "refseq_ac": "XP_231616",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "KIAA1549 homolog",
                    "type": "synonym"
                },
                {
                    "name": "UPF0606 protein KIAA1549 homolog isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kiaa1549",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa1549",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306271",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z9D0-1",
            "evidence": [
                {
                    "id": "0112143",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112143"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112143"
}