{
    "disease_id": "DOID:0110362",
    "recommended_name": {
        "id": "DOID:0110362",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110362",
        "name": "retinitis pigmentosa 58",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23."
    },
    "synonyms": [
        {
            "id": "DOID:0110362",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110362",
            "name": "RP58",
            "description": ""
        },
        {
            "id": "MONDO:0013328",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013328",
            "name": "retinitis pigmentosa 58",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene."
        },
        {
            "id": "MONDO:0013328",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013328",
            "name": "RP58",
            "description": ""
        },
        {
            "id": "MONDO:0013328",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013328",
            "name": "ZNF513 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0013328",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013328",
            "name": "retinitis pigmentosa 58",
            "description": ""
        },
        {
            "id": "MONDO:0013328",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013328",
            "name": "retinitis pigmentosa caused by mutation in ZNF513",
            "description": ""
        },
        {
            "id": "MONDO:0013328",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013328",
            "name": "retinitis pigmentosa type 58",
            "description": ""
        },
        {
            "id": "MIM:613617",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613617",
            "name": "Retinitis pigmentosa 58",
            "description": "Retinitis pigmentosa 58"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110362"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110362",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110362",
            "categories": []
        },
        {
            "id": "MONDO:0013328",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013328",
            "categories": []
        },
        {
            "id": "MIM:613617",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613617",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "R4GDS0-1",
            "uniprot_ac": "R4GDS0",
            "uniprot_id": "R4GDS0_DANRE",
            "refseq_ac": "NP_001296396",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 513",
                    "type": "recommended"
                },
                {
                    "name": "zinc finger protein 513a",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger protein 513",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "znf513a",
                    "type": "recommended"
                },
                {
                    "name": "cb557",
                    "type": "synonym"
                },
                {
                    "name": "fi87d06",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb557",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-101l18.1",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-278j3.2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi87d06",
                    "type": "synonym"
                },
                {
                    "name": "znf513a",
                    "type": "synonym"
                },
                {
                    "name": "znf513",
                    "type": "synonym"
                }
            ],
            "record_id": "R4GDS0-1",
            "evidence": [
                {
                    "id": "0110362",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110362"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PD29-1",
            "uniprot_ac": "Q6PD29",
            "uniprot_id": "ZN513_MOUSE",
            "refseq_ac": "NP_001171372",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 513",
                    "type": "recommended"
                },
                {
                    "name": "zinc finger protein 513 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zfp513",
                    "type": "recommended"
                },
                {
                    "name": "Znf513",
                    "type": "recommended"
                },
                {
                    "name": "D430028M17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Zfp513",
                    "type": "synonym"
                },
                {
                    "name": "Znf513",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PD29-1",
            "evidence": [
                {
                    "id": "0110362",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110362"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N8E2-1",
            "uniprot_ac": "Q8N8E2",
            "uniprot_id": "ZN513_HUMAN",
            "refseq_ac": "NP_001188388",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 513",
                    "type": "recommended"
                },
                {
                    "name": "zinc finger protein 513 isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ZNF513",
                    "type": "recommended"
                },
                {
                    "name": "HMFT0656",
                    "type": "synonym"
                },
                {
                    "name": "RP58",
                    "type": "synonym"
                },
                {
                    "name": "ZNF513",
                    "type": "synonym"
                },
                {
                    "name": "Zfp513",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N8E2-1",
            "evidence": [
                {
                    "id": "613617",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613617"
                },
                {
                    "id": "0110362",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110362"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5FWU5-1",
            "uniprot_ac": "Q5FWU5",
            "uniprot_id": "ZN513_RAT",
            "refseq_ac": "NP_001012110",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Zinc finger protein 513",
                    "type": "recommended"
                },
                {
                    "name": "zinc finger protein 513",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Znf513",
                    "type": "recommended"
                },
                {
                    "name": "Zfp513",
                    "type": "synonym"
                },
                {
                    "name": "Znf513",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5FWU5-1",
            "evidence": [
                {
                    "id": "0110362",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110362"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110362"
}