{
    "disease_id": "DOID:0110393",
    "recommended_name": {
        "id": "DOID:0110393",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110393",
        "name": "retinitis pigmentosa 66",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the RBP3 gene on chromosome 10q11."
    },
    "synonyms": [
        {
            "id": "DOID:0110393",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110393",
            "name": "RP66",
            "description": ""
        },
        {
            "id": "MONDO:0014093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014093",
            "name": "retinitis pigmentosa 66",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene."
        },
        {
            "id": "MONDO:0014093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014093",
            "name": "RBP3 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0014093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014093",
            "name": "RP66",
            "description": ""
        },
        {
            "id": "MONDO:0014093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014093",
            "name": "retinitis pigmentosa 66",
            "description": ""
        },
        {
            "id": "MONDO:0014093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014093",
            "name": "retinitis pigmentosa caused by mutation in RBP3",
            "description": ""
        },
        {
            "id": "MONDO:0014093",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014093",
            "name": "retinitis pigmentosa type 66",
            "description": ""
        },
        {
            "id": "MIM:615233",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615233",
            "name": "Retinitis pigmentosa 66",
            "description": "Retinitis pigmentosa 66"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110393"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110393",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110393",
            "categories": []
        },
        {
            "id": "MONDO:0014093",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014093",
            "categories": []
        },
        {
            "id": "MIM:615233",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615233",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P49194-1",
            "uniprot_ac": "P49194",
            "uniprot_id": "RET3_MOUSE",
            "refseq_ac": "NP_056560",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinol-binding protein 3",
                    "type": "recommended"
                },
                {
                    "name": "IRBP",
                    "type": "synonym"
                },
                {
                    "name": "Interphotoreceptor retinoid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Interstitial retinol-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "interphotoreceptor retinoid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "retinol-binding protein 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "retinol-binding protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbp3",
                    "type": "recommended"
                },
                {
                    "name": "Irbp",
                    "type": "synonym"
                },
                {
                    "name": "Rbp-3",
                    "type": "synonym"
                },
                {
                    "name": "Rbp3",
                    "type": "synonym"
                }
            ],
            "record_id": "P49194-1",
            "evidence": [
                {
                    "id": "0110393",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110393"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P10745-1",
            "uniprot_ac": "P10745",
            "uniprot_id": "RET3_HUMAN",
            "refseq_ac": "NP_002891",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinol-binding protein 3",
                    "type": "recommended"
                },
                {
                    "name": "IRBP",
                    "type": "synonym"
                },
                {
                    "name": "Interphotoreceptor retinoid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Interstitial retinol-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "interphotoreceptor retinoid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "interstitial retinol binding protein 3",
                    "type": "synonym"
                },
                {
                    "name": "retinol binding protein 3, interstitial",
                    "type": "synonym"
                },
                {
                    "name": "retinol-binding protein 3 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RBP3",
                    "type": "recommended"
                },
                {
                    "name": "D10S64",
                    "type": "synonym"
                },
                {
                    "name": "D10S65",
                    "type": "synonym"
                },
                {
                    "name": "D10S66",
                    "type": "synonym"
                },
                {
                    "name": "IRBP",
                    "type": "synonym"
                },
                {
                    "name": "RBP3",
                    "type": "synonym"
                },
                {
                    "name": "RBPI",
                    "type": "synonym"
                },
                {
                    "name": "RP66",
                    "type": "synonym"
                }
            ],
            "record_id": "P10745-1",
            "evidence": [
                {
                    "id": "615233",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615233"
                },
                {
                    "id": "0110393",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110393"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V8Q4-1",
            "uniprot_ac": "G3V8Q4",
            "uniprot_id": "G3V8Q4_RAT",
            "refseq_ac": "NP_001178761",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinol-binding protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Interphotoreceptor retinoid-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Interstitial retinol-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "interphotoreceptor retinoid binding protein",
                    "type": "synonym"
                },
                {
                    "name": "interphotoreceptor retinol- binding protein",
                    "type": "synonym"
                },
                {
                    "name": "retinol binding protein 3, interstitial",
                    "type": "synonym"
                },
                {
                    "name": "retinol-binding protein 2",
                    "type": "synonym"
                },
                {
                    "name": "retinol-binding protein 3 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rbp3",
                    "type": "recommended"
                },
                {
                    "name": "Irbp",
                    "type": "synonym"
                },
                {
                    "name": "Rbp3",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V8Q4-1",
            "evidence": [
                {
                    "id": "0110393",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110393"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110393"
}
