{
    "disease_id": "DOID:0110415",
    "recommended_name": {
        "id": "DOID:0110415",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110415",
        "name": "retinitis pigmentosa 2",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110415",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110415",
            "name": "RP2",
            "description": ""
        },
        {
            "id": "MONDO:0010723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010723",
            "name": "retinitis pigmentosa 2",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene."
        },
        {
            "id": "MONDO:0010723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010723",
            "name": "RP2",
            "description": ""
        },
        {
            "id": "MONDO:0010723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010723",
            "name": "RP2 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0010723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010723",
            "name": "retinitis pigmentosa 2",
            "description": ""
        },
        {
            "id": "MONDO:0010723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010723",
            "name": "retinitis pigmentosa caused by mutation in RP2",
            "description": ""
        },
        {
            "id": "MONDO:0010723",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010723",
            "name": "retinitis pigmentosa type 2",
            "description": ""
        },
        {
            "id": "MIM:312600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/312600",
            "name": "Retinitis pigmentosa 2",
            "description": "Retinitis pigmentosa 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110415"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110415",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110415",
            "categories": []
        },
        {
            "id": "MONDO:0010723",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010723",
            "categories": []
        },
        {
            "id": "MIM:312600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/312600",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QC45-1",
            "uniprot_ac": "F1QC45",
            "uniprot_id": "XRP2_DANRE",
            "refseq_ac": "NP_998611",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein XRP2",
                    "type": "recommended"
                },
                {
                    "name": "RP2, ARL3 GTPase activating protein",
                    "type": "synonym"
                },
                {
                    "name": "nme10",
                    "type": "synonym"
                },
                {
                    "name": "protein XRP2",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 2 (X-linked recessive)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rp2",
                    "type": "recommended"
                },
                {
                    "name": "rp2",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj10e02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fm72d05",
                    "type": "synonym"
                },
                {
                    "name": "zfrp2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55632",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QC45-1",
            "evidence": [
                {
                    "id": "0110415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110415"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q1MTE5-1",
            "uniprot_ac": "Q1MTE5",
            "uniprot_id": "ARL3_DANRE",
            "refseq_ac": "NP_001038373",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor-like protein 3",
                    "type": "recommended"
                },
                {
                    "name": "ADP-ribosylation factor-like 3b",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "arl3",
                    "type": "recommended"
                },
                {
                    "name": "arl3b",
                    "type": "synonym"
                },
                {
                    "name": "arl3",
                    "type": "synonym"
                },
                {
                    "name": "sfxn2",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-208d15.4",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj22g05",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1MTE5-1",
            "evidence": [
                {
                    "id": "0110415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110415"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WUL7-1",
            "uniprot_ac": "Q9WUL7",
            "uniprot_id": "ARL3_MOUSE",
            "refseq_ac": "NP_062692",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor-like protein 3",
                    "type": "recommended"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation-like 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arl3",
                    "type": "recommended"
                },
                {
                    "name": "Arl3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WUL7-1",
            "evidence": [
                {
                    "id": "0110415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110415"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9EPK2-1",
            "uniprot_ac": "Q9EPK2",
            "uniprot_id": "XRP2_MOUSE",
            "refseq_ac": "NP_001277572",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein XRP2",
                    "type": "recommended"
                },
                {
                    "name": "protein XRP2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "protein XRP2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rp2",
                    "type": "recommended"
                },
                {
                    "name": "Rp2h",
                    "type": "synonym"
                },
                {
                    "name": "Rp2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9EPK2-1",
            "evidence": [
                {
                    "id": "0110415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110415"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75695-1",
            "uniprot_ac": "O75695",
            "uniprot_id": "XRP2_HUMAN",
            "refseq_ac": "NP_008846",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein XRP2",
                    "type": "recommended"
                },
                {
                    "name": "RP2, ARL3 GTPase activating protein",
                    "type": "synonym"
                },
                {
                    "name": "protein XRP2",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 2 (X-linked recessive)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RP2",
                    "type": "recommended"
                },
                {
                    "name": "DELXp11.3",
                    "type": "synonym"
                },
                {
                    "name": "NM23-H10",
                    "type": "synonym"
                },
                {
                    "name": "NME10",
                    "type": "synonym"
                },
                {
                    "name": "RP2",
                    "type": "synonym"
                },
                {
                    "name": "TBCCD2",
                    "type": "synonym"
                },
                {
                    "name": "XRP2",
                    "type": "synonym"
                }
            ],
            "record_id": "O75695-1",
            "evidence": [
                {
                    "id": "312600",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/312600"
                },
                {
                    "id": "0110415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110415"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZTJ0-1",
            "uniprot_ac": "D3ZTJ0",
            "uniprot_id": "D3ZTJ0_RAT",
            "refseq_ac": "NP_001102482",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein XRP2",
                    "type": "recommended"
                },
                {
                    "name": "RP2, ARL3 GTPase activating protein",
                    "type": "synonym"
                },
                {
                    "name": "protein XRP2",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 2 (X-linked recessive)",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 2 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rp2",
                    "type": "recommended"
                },
                {
                    "name": "RGD1565124",
                    "type": "synonym"
                },
                {
                    "name": "Rp2h",
                    "type": "synonym"
                },
                {
                    "name": "Rp2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZTJ0-1",
            "evidence": [
                {
                    "id": "0110415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110415"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37996-1",
            "uniprot_ac": "P37996",
            "uniprot_id": "ARL3_RAT",
            "refseq_ac": "NP_073191",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor-like protein 3",
                    "type": "recommended"
                },
                {
                    "name": "ADP ribosylation factor like GTPase 3",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like 3",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation-like 3",
                    "type": "synonym"
                },
                {
                    "name": "ARD3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Arl3",
                    "type": "recommended"
                },
                {
                    "name": "Arl3",
                    "type": "synonym"
                }
            ],
            "record_id": "P37996-1",
            "evidence": [
                {
                    "id": "0110415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110415"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VD64-1",
            "uniprot_ac": "Q9VD64",
            "uniprot_id": "Q9VD64_DROME",
            "refseq_ac": "NP_650995",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor-like protein 3",
                    "type": "recommended"
                },
                {
                    "name": "ADP-ribosylation factor-like 3",
                    "type": "synonym"
                },
                {
                    "name": "Arf-like 3",
                    "type": "synonym"
                },
                {
                    "name": "Arf-like-3",
                    "type": "synonym"
                },
                {
                    "name": "Arf-like3",
                    "type": "synonym"
                },
                {
                    "name": "CG6560-PA",
                    "type": "synonym"
                },
                {
                    "name": "dead end",
                    "type": "synonym"
                },
                {
                    "name": "dnd-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dnd",
                    "type": "recommended"
                },
                {
                    "name": "ARL3",
                    "type": "synonym"
                },
                {
                    "name": "Arl3",
                    "type": "synonym"
                },
                {
                    "name": "CG6560",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6560",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6560",
                    "type": "synonym"
                },
                {
                    "name": "Dnd",
                    "type": "synonym"
                },
                {
                    "name": "Q9VD64",
                    "type": "synonym"
                },
                {
                    "name": "arl3",
                    "type": "synonym"
                },
                {
                    "name": "dnd",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VD64-1",
            "evidence": [
                {
                    "id": "0110415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110415"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36405-1",
            "uniprot_ac": "P36405",
            "uniprot_id": "ARL3_HUMAN",
            "refseq_ac": "NP_004302",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADP-ribosylation factor-like protein 3",
                    "type": "recommended"
                },
                {
                    "name": "ADP ribosylation factor like GTPase 3",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like 3",
                    "type": "synonym"
                },
                {
                    "name": "ADP-ribosylation factor-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "ARF-like 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ARL3",
                    "type": "recommended"
                },
                {
                    "name": "ARFL3",
                    "type": "synonym"
                },
                {
                    "name": "ARL3",
                    "type": "synonym"
                },
                {
                    "name": "JBTS35",
                    "type": "synonym"
                },
                {
                    "name": "RP83",
                    "type": "synonym"
                }
            ],
            "record_id": "P36405-1",
            "evidence": [
                {
                    "id": "0110415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110415"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110415"
}