{
    "disease_id": "DOID:0061112",
    "recommended_name": {
        "id": "DOID:0061112",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061112",
        "name": "retinitis pigmentosa 95",
        "description": "A retinitis pigmentosa characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0061112",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061112",
            "name": "RP95",
            "description": ""
        },
        {
            "id": "MONDO:0859308",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859308",
            "name": "retinitis pigmentosa 95",
            "description": ""
        },
        {
            "id": "MIM:620102",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620102",
            "name": "Retinitis pigmentosa 95",
            "description": "Retinitis pigmentosa 95"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061112"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061112",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061112",
            "categories": []
        },
        {
            "id": "MONDO:0859308",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859308",
            "categories": []
        },
        {
            "id": "MIM:620102",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620102",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O42356-1",
            "uniprot_ac": "O42356",
            "uniprot_id": "RX1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinal homeobox protein Rx1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "rx1",
                    "type": "recommended"
                }
            ],
            "record_id": "O42356-1",
            "evidence": [
                {
                    "id": "0061112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O42357-1",
            "uniprot_ac": "O42357",
            "uniprot_id": "RX2_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinal homeobox protein Rx2",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "rx2",
                    "type": "recommended"
                }
            ],
            "record_id": "O42357-1",
            "evidence": [
                {
                    "id": "0061112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96IS3-1",
            "uniprot_ac": "Q96IS3",
            "uniprot_id": "RAX2_HUMAN",
            "refseq_ac": "NP_116142",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retina and anterior neural fold homeobox protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Q50-type retinal homeobox protein",
                    "type": "synonym"
                },
                {
                    "name": "Retina and anterior neural fold homeobox-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "retina and anterior neural fold homeobox like 1",
                    "type": "synonym"
                },
                {
                    "name": "retina and anterior neural fold homeobox protein 2",
                    "type": "synonym"
                },
                {
                    "name": "retina and anterior neural fold homeobox-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAX2",
                    "type": "recommended"
                },
                {
                    "name": "ARMD6",
                    "type": "synonym"
                },
                {
                    "name": "CORD11",
                    "type": "synonym"
                },
                {
                    "name": "QRX",
                    "type": "synonym"
                },
                {
                    "name": "RAX2",
                    "type": "synonym"
                },
                {
                    "name": "RAXL1",
                    "type": "synonym"
                },
                {
                    "name": "RP95",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96IS3-1",
            "evidence": [
                {
                    "id": "620102",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620102"
                },
                {
                    "id": "0061112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04116-1",
            "uniprot_ac": "Q04116",
            "uniprot_id": "YHP1_YEAST",
            "refseq_ac": "NP_010739",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein YHP1",
                    "type": "recommended"
                },
                {
                    "name": "Yhp1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YHP1",
                    "type": "recommended"
                },
                {
                    "name": "D9461.36",
                    "type": "synonym"
                },
                {
                    "name": "YHP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04116-1",
            "evidence": [
                {
                    "id": "0061112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061112"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W2Q1-1",
            "uniprot_ac": "Q9W2Q1",
            "uniprot_id": "RX_DROME",
            "refseq_ac": "NP_726006",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinal homeobox protein Rx",
                    "type": "recommended"
                },
                {
                    "name": "CG10052-PB",
                    "type": "synonym"
                },
                {
                    "name": "DRx1",
                    "type": "synonym"
                },
                {
                    "name": "DRx",
                    "type": "synonym"
                },
                {
                    "name": "Rx-PB",
                    "type": "synonym"
                },
                {
                    "name": "drosophila Rx",
                    "type": "synonym"
                },
                {
                    "name": "retinal homeobox",
                    "type": "synonym"
                },
                {
                    "name": "wombat",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rx",
                    "type": "recommended"
                },
                {
                    "name": "CG10052",
                    "type": "synonym"
                },
                {
                    "name": "DRx",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10052",
                    "type": "synonym"
                },
                {
                    "name": "Drx",
                    "type": "synonym"
                },
                {
                    "name": "E97",
                    "type": "synonym"
                },
                {
                    "name": "PPH17",
                    "type": "synonym"
                },
                {
                    "name": "Rx",
                    "type": "synonym"
                },
                {
                    "name": "W60",
                    "type": "synonym"
                },
                {
                    "name": "bk50",
                    "type": "synonym"
                },
                {
                    "name": "drx",
                    "type": "synonym"
                },
                {
                    "name": "rx",
                    "type": "synonym"
                },
                {
                    "name": "wom",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W2Q1-1",
            "evidence": [
                {
                    "id": "0061112",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061112"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061112"
}
