{
    "disease_id": "DOID:0111015",
    "recommended_name": {
        "id": "DOID:0111015",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111015",
        "name": "Newfoundland cone-rod dystrophy",
        "description": "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26."
    },
    "synonyms": [
        {
            "id": "DOID:0111015",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111015",
            "name": "NFRCD",
            "description": ""
        },
        {
            "id": "MONDO:0011839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011839",
            "name": "Newfoundland cone-rod dystrophy",
            "description": "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene."
        },
        {
            "id": "MONDO:0011839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011839",
            "name": "NFRCD",
            "description": ""
        },
        {
            "id": "MONDO:0011839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011839",
            "name": "RLBP1 cone-rod dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011839",
            "name": "cone-rod dystrophy caused by mutation in RLBP1",
            "description": ""
        },
        {
            "id": "MONDO:0011839",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011839",
            "name": "Newfoundland ROD-cone dystrophy",
            "description": ""
        },
        {
            "id": "MIM:607476",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607476",
            "name": "Rod-cone dystrophy Newfoundland",
            "description": "Rod-cone dystrophy Newfoundland"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111015"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111015",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111015",
            "categories": []
        },
        {
            "id": "MONDO:0011839",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011839",
            "categories": []
        },
        {
            "id": "MIM:607476",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607476",
            "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": "0111015",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111015"
                }
            ]
        },
        {
            "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": "607476",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607476"
                },
                {
                    "id": "0111015",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111015"
                }
            ]
        },
        {
            "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": "0111015",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111015"
                }
            ]
        },
        {
            "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": "0111015",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111015"
                }
            ]
        },
        {
            "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": "0111015",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111015"
                }
            ]
        },
        {
            "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": "0111015",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111015"
                }
            ]
        },
        {
            "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": "0111015",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111015"
                }
            ]
        },
        {
            "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": "0111015",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111015"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111015"
}