{
    "disease_id": "DOID:0111008",
    "recommended_name": {
        "id": "DOID:0111008",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111008",
        "name": "X-linked cone-rod dystrophy 1",
        "description": "A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11."
    },
    "synonyms": [
        {
            "id": "DOID:0111008",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111008",
            "name": "COD1",
            "description": ""
        },
        {
            "id": "DOID:0111008",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111008",
            "name": "CORDX1",
            "description": ""
        },
        {
            "id": "DOID:0111008",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111008",
            "name": "X-linked cone dystrophy 1",
            "description": ""
        },
        {
            "id": "MONDO:0010566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010566",
            "name": "X-linked cone-rod dystrophy 1",
            "description": ""
        },
        {
            "id": "MONDO:0010566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010566",
            "name": "CORDX1",
            "description": ""
        },
        {
            "id": "MONDO:0010566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010566",
            "name": "X-linked cone-rod dystrophy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010566",
            "name": "cone-rod dystrophy, X-linked, 1, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010566",
            "name": "cone-rod dystrophy, X-linked, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010566",
            "name": "cone dystrophy X-linked 1",
            "description": ""
        },
        {
            "id": "MONDO:0010566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010566",
            "name": "cone-rod dystrophy X-linked 1",
            "description": ""
        },
        {
            "id": "MONDO:0010566",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010566",
            "name": "cone-rod dystrophy, X-linked, 1",
            "description": ""
        },
        {
            "id": "MIM:304020",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/304020",
            "name": "Cone-rod dystrophy, X-linked 1",
            "description": "Cone-rod dystrophy, X-linked 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111008"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111008",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111008",
            "categories": []
        },
        {
            "id": "MONDO:0010566",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010566",
            "categories": []
        },
        {
            "id": "MIM:304020",
            "database": "MIM",
            "url": "https://www.omim.org/entry/304020",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QM29-1",
            "uniprot_ac": "F1QM29",
            "uniprot_id": "F1QM29_DANRE",
            "refseq_ac": "NP_001299605",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "X-linked retinitis pigmentosa GTPase regulator",
                    "type": "recommended"
                },
                {
                    "name": "retinitis pigmentosa GTPase regulator b isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "rpgr2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rpgrb",
                    "type": "recommended"
                },
                {
                    "name": "rpgrb",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QM29-1",
            "evidence": [
                {
                    "id": "0111008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9QB02-1",
            "uniprot_ac": "A0A8M9QB02",
            "uniprot_id": "A0A8M9QB02_DANRE",
            "refseq_ac": "XP_021334464",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "X-linked retinitis pigmentosa GTPase regulator",
                    "type": "recommended"
                },
                {
                    "name": "uncharacterized protein rpgra",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rpgra",
                    "type": "recommended"
                },
                {
                    "name": "rpgra",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QB02-1",
            "evidence": [
                {
                    "id": "0111008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0X5-1",
            "uniprot_ac": "Q9R0X5",
            "uniprot_id": "RPGR_MOUSE",
            "refseq_ac": "NP_001171421",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "X-linked retinitis pigmentosa GTPase regulator",
                    "type": "recommended"
                },
                {
                    "name": "X-linked retinitis pigmentosa GTPase regulator isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "X-linked retinitis pigmentosa GTPase regulator",
                    "type": "synonym"
                },
                {
                    "name": "mRpgr",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpgr",
                    "type": "recommended"
                },
                {
                    "name": "Rd9",
                    "type": "synonym"
                },
                {
                    "name": "Rp3h",
                    "type": "synonym"
                },
                {
                    "name": "Rpgr",
                    "type": "synonym"
                },
                {
                    "name": "mRpgr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0X5-1",
            "evidence": [
                {
                    "id": "0111008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92834-1",
            "uniprot_ac": "Q92834",
            "uniprot_id": "RPGR_HUMAN",
            "refseq_ac": "NP_000319",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "X-linked retinitis pigmentosa GTPase regulator",
                    "type": "recommended"
                },
                {
                    "name": "X-linked retinitis pigmentosa GTPase regulator isoform A",
                    "type": "synonym"
                },
                {
                    "name": "X-linked retinitis pigmentosa GTPase regulator",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 15",
                    "type": "synonym"
                },
                {
                    "name": "retinitis pigmentosa 3 GTPase regulator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RPGR",
                    "type": "recommended"
                },
                {
                    "name": "COD1",
                    "type": "synonym"
                },
                {
                    "name": "CORDX1",
                    "type": "synonym"
                },
                {
                    "name": "CRD",
                    "type": "synonym"
                },
                {
                    "name": "PCDX",
                    "type": "synonym"
                },
                {
                    "name": "RP15",
                    "type": "synonym"
                },
                {
                    "name": "RP3",
                    "type": "synonym"
                },
                {
                    "name": "RPGR",
                    "type": "synonym"
                },
                {
                    "name": "XLRP3",
                    "type": "synonym"
                },
                {
                    "name": "orf15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92834-1",
            "evidence": [
                {
                    "id": "304020",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/304020"
                },
                {
                    "id": "0111008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111008"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63769-1",
            "uniprot_ac": "Q63769",
            "uniprot_id": "SRPX_RAT",
            "refseq_ac": "NP_071969",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sushi repeat-containing protein SRPX",
                    "type": "recommended"
                },
                {
                    "name": "DRS",
                    "type": "synonym"
                },
                {
                    "name": "Down-regulated by v-SRC",
                    "type": "synonym"
                },
                {
                    "name": "down-regulated by v-src",
                    "type": "synonym"
                },
                {
                    "name": "sushi repeat-containing protein SRPX precursor",
                    "type": "synonym"
                },
                {
                    "name": "sushi repeat-containing protein SRPX",
                    "type": "synonym"
                },
                {
                    "name": "sushi-repeat-containing protein, X chromosome",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rpgr",
                    "type": "recommended"
                },
                {
                    "name": "Srpx",
                    "type": "recommended"
                },
                {
                    "name": "Drs",
                    "type": "synonym"
                },
                {
                    "name": "LOC134484130",
                    "type": "synonym"
                },
                {
                    "name": "Srpx",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63769-1",
            "evidence": [
                {
                    "id": "0111008",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111008"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111008"
}