{
    "disease_id": "DOID:0050683",
    "recommended_name": {
        "id": "DOID:0050683",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050683",
        "name": "Bothnia retinal dystrophy",
        "description": "A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0050683",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050683",
            "name": "Vasterbotten dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011838",
            "name": "Bothnia retinal dystrophy",
            "description": "A rare form of retinal dystrophy, seen mostly in Northern Sweden, presenting in early childhood with night blindness and progressive maculopathy with a decrease in visual acuity, eventually leading to blindness by adulthood. Retinal degeneration, without obvious bone spicule formation, accompanied by affected visual fields and the typical presence of retinitis punctata albescens in the posterior pole are also noted."
        },
        {
            "id": "MONDO:0011838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011838",
            "name": "Bothnia retinal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011838",
            "name": "VC$sterbotten dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011838",
            "name": "Vasterbotten dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011838",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011838",
            "name": "Vsterbotten dystrophy",
            "description": ""
        },
        {
            "id": "MIM:607475",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607475",
            "name": "Bothnia retinal dystrophy",
            "description": "Bothnia retinal dystrophy"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050683"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050683",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050683",
            "categories": []
        },
        {
            "id": "MONDO:0011838",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011838",
            "categories": []
        },
        {
            "id": "MIM:607475",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607475",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z275-1",
            "uniprot_ac": "Q9Z275",
            "uniprot_id": "RLBP1_MOUSE",
            "refseq_ac": "NP_001166954",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinaldehyde-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Cellular retinaldehyde-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "cellular retinaldehyde-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "retinaldehyde-binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rlbp1",
                    "type": "recommended"
                },
                {
                    "name": "3110056M11Rik",
                    "type": "synonym"
                },
                {
                    "name": "CRALBP",
                    "type": "synonym"
                },
                {
                    "name": "Cralbp",
                    "type": "synonym"
                },
                {
                    "name": "Rlbp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z275-1",
            "evidence": [
                {
                    "id": "0050683",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050683"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12271-1",
            "uniprot_ac": "P12271",
            "uniprot_id": "RLBP1_HUMAN",
            "refseq_ac": "NP_000317",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinaldehyde-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Cellular retinaldehyde-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "cellular retinaldehyde-binding protein-1",
                    "type": "synonym"
                },
                {
                    "name": "retinaldehyde-binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RLBP1",
                    "type": "recommended"
                },
                {
                    "name": "CRALBP",
                    "type": "synonym"
                },
                {
                    "name": "RLBP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P12271-1",
            "evidence": [
                {
                    "id": "607475",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607475"
                },
                {
                    "id": "0050683",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050683"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53844-1",
            "uniprot_ac": "P53844",
            "uniprot_id": "PDR17_YEAST",
            "refseq_ac": "NP_014135",
            "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": "Phosphatidylinositol transfer protein PDR17",
                    "type": "recommended"
                },
                {
                    "name": "PITP",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylserine transport B pathway protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Pleiotropic drug resistance protein 17",
                    "type": "synonym"
                },
                {
                    "name": "SEC14 homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDR17",
                    "type": "recommended"
                },
                {
                    "name": "ISS1",
                    "type": "synonym"
                },
                {
                    "name": "N0815",
                    "type": "synonym"
                },
                {
                    "name": "PDR17",
                    "type": "synonym"
                },
                {
                    "name": "PSTB2",
                    "type": "synonym"
                },
                {
                    "name": "SFH4",
                    "type": "synonym"
                }
            ],
            "record_id": "P53844-1",
            "evidence": [
                {
                    "id": "0050683",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050683"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53860-1",
            "uniprot_ac": "P53860",
            "uniprot_id": "PDR16_YEAST",
            "refseq_ac": "NP_014168",
            "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": "Phosphatidylinositol transfer protein PDR16",
                    "type": "recommended"
                },
                {
                    "name": "PITP",
                    "type": "synonym"
                },
                {
                    "name": "Pleiotropic drug resistance protein 16",
                    "type": "synonym"
                },
                {
                    "name": "SEC14 homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PDR16",
                    "type": "recommended"
                },
                {
                    "name": "N1158",
                    "type": "synonym"
                },
                {
                    "name": "PDR16",
                    "type": "synonym"
                },
                {
                    "name": "SFH3",
                    "type": "synonym"
                }
            ],
            "record_id": "P53860-1",
            "evidence": [
                {
                    "id": "0050683",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050683"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z956-1",
            "uniprot_ac": "D3Z956",
            "uniprot_id": "D3Z956_RAT",
            "refseq_ac": "NP_001099744",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinaldehyde-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Cellular retinaldehyde-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "retinaldehyde-binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rlbp1",
                    "type": "recommended"
                },
                {
                    "name": "Rlbp1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z956-1",
            "evidence": [
                {
                    "id": "0050683",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050683"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VRP8-1",
            "uniprot_ac": "Q9VRP8",
            "uniprot_id": "Q9VRP8_DROME",
            "refseq_ac": "NP_523939",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10546-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cellular retinaldehyde binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Cralbp-PA",
                    "type": "synonym"
                },
                {
                    "name": "cellular retinaldehyde binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cralbp",
                    "type": "recommended"
                },
                {
                    "name": "CG10546",
                    "type": "synonym"
                },
                {
                    "name": "CRALBP",
                    "type": "synonym"
                },
                {
                    "name": "Cralbp",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10546",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10546",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VRP8-1",
            "evidence": [
                {
                    "id": "0050683",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050683"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VM12-1",
            "uniprot_ac": "Q9VM12",
            "uniprot_id": "Q9VM12_DROME",
            "refseq_ac": "NP_609119",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CRAL-TRIO domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG5958-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG5958",
                    "type": "recommended"
                },
                {
                    "name": "CG5958",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5958",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5958",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VM12-1",
            "evidence": [
                {
                    "id": "0050683",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050683"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VTY1-1",
            "uniprot_ac": "Q9VTY1",
            "uniprot_id": "Q9VTY1_DROME",
            "refseq_ac": "NP_648579",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CRAL-TRIO domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG10657-PA",
                    "type": "synonym"
                },
                {
                    "name": "retinaldehyde-binding related protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG10657",
                    "type": "recommended"
                },
                {
                    "name": "BEST:LD32330",
                    "type": "synonym"
                },
                {
                    "name": "CG10657",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10657",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10657",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VTY1-1",
            "evidence": [
                {
                    "id": "0050683",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050683"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050683"
}