{
    "disease_id": "DOID:0080350",
    "recommended_name": {
        "id": "DOID:0080350",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080350",
        "name": "retinitis pigmentosa 77",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the REEP6 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "MONDO:0015013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015013",
            "name": "retinitis pigmentosa 77",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene."
        },
        {
            "id": "MONDO:0015013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015013",
            "name": "REEP6 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0015013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015013",
            "name": "retinitis pigmentosa 77",
            "description": ""
        },
        {
            "id": "MONDO:0015013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015013",
            "name": "retinitis pigmentosa caused by mutation in REEP6",
            "description": ""
        },
        {
            "id": "MONDO:0015013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015013",
            "name": "retinitis pigmentosa type 77",
            "description": ""
        },
        {
            "id": "MONDO:0015013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015013",
            "name": "RP77",
            "description": ""
        },
        {
            "id": "MIM:617304",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617304",
            "name": "Retinitis pigmentosa 77",
            "description": "Retinitis pigmentosa 77"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080350"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080350",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080350",
            "categories": []
        },
        {
            "id": "MONDO:0015013",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015013",
            "categories": []
        },
        {
            "id": "MIM:617304",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617304",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q66IF1-1",
            "uniprot_ac": "Q66IF1",
            "uniprot_id": "REEP6_DANRE",
            "refseq_ac": "NP_001004656",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor expression-enhancing protein 6",
                    "type": "recommended"
                },
                {
                    "name": "receptor expression-enhancing protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "reep6",
                    "type": "recommended"
                },
                {
                    "name": "reep6",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101529",
                    "type": "synonym"
                }
            ],
            "record_id": "Q66IF1-1",
            "evidence": [
                {
                    "id": "0080350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080350"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JM62-1",
            "uniprot_ac": "Q9JM62",
            "uniprot_id": "REEP6_MOUSE",
            "refseq_ac": "NP_001191860",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor expression-enhancing protein 6",
                    "type": "recommended"
                },
                {
                    "name": "Polyposis locus protein 1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "TB2 protein-like 1",
                    "type": "synonym"
                },
                {
                    "name": "deleted in polyposis 1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "polyposis locus protein 1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "receptor expression-enhancing protein 6 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "receptor expression-enhancing protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Reep6",
                    "type": "recommended"
                },
                {
                    "name": "0610011M24Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dp1l1",
                    "type": "synonym"
                },
                {
                    "name": "Reep6",
                    "type": "synonym"
                },
                {
                    "name": "Tb2l1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JM62-1",
            "evidence": [
                {
                    "id": "0080350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080350"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96HR9-1",
            "uniprot_ac": "Q96HR9",
            "uniprot_id": "REEP6_HUMAN",
            "refseq_ac": "NP_001316485",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor expression-enhancing protein 6",
                    "type": "recommended"
                },
                {
                    "name": "Polyposis locus protein 1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "deleted in polyposis 1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "polyposis locus protein 1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "receptor expression-enhancing protein 6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "receptor expression-enhancing protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "REEP6",
                    "type": "recommended"
                },
                {
                    "name": "C19orf32",
                    "type": "synonym"
                },
                {
                    "name": "DP1L1",
                    "type": "synonym"
                },
                {
                    "name": "REEP6.1",
                    "type": "synonym"
                },
                {
                    "name": "REEP6.2",
                    "type": "synonym"
                },
                {
                    "name": "REEP6",
                    "type": "synonym"
                },
                {
                    "name": "RP77",
                    "type": "synonym"
                },
                {
                    "name": "TB1",
                    "type": "synonym"
                },
                {
                    "name": "TB2L1",
                    "type": "synonym"
                },
                {
                    "name": "Yip2f",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96HR9-1",
            "evidence": [
                {
                    "id": "617304",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617304"
                },
                {
                    "id": "0080350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080350"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12402-1",
            "uniprot_ac": "Q12402",
            "uniprot_id": "YOP1_YEAST",
            "refseq_ac": "NP_015353",
            "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": "Protein YOP1",
                    "type": "recommended"
                },
                {
                    "name": "YIP1 partner protein 1",
                    "type": "synonym"
                },
                {
                    "name": "YPT-interacting protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Yop1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YOP1",
                    "type": "recommended"
                },
                {
                    "name": "YIP2",
                    "type": "synonym"
                },
                {
                    "name": "YOP1",
                    "type": "synonym"
                },
                {
                    "name": "YP9367.08",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12402-1",
            "evidence": [
                {
                    "id": "0080350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080350"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XI60-1",
            "uniprot_ac": "Q5XI60",
            "uniprot_id": "REEP6_RAT",
            "refseq_ac": "NP_001013236",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor expression-enhancing protein 6",
                    "type": "recommended"
                },
                {
                    "name": "Polyposis locus protein 1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "deleted in polyposis 1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "polyposis locus protein 1-like 1",
                    "type": "synonym"
                },
                {
                    "name": "receptor expression-enhancing protein 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Reep6",
                    "type": "recommended"
                },
                {
                    "name": "Dp1l1",
                    "type": "synonym"
                },
                {
                    "name": "Reep6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XI60-1",
            "evidence": [
                {
                    "id": "0080350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080350"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z9M2-1",
            "uniprot_ac": "A1Z9M2",
            "uniprot_id": "A1Z9M2_DROME",
            "refseq_ac": "NP_001188928",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor expression-enhancing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG8331-PD",
                    "type": "synonym"
                },
                {
                    "name": "ReepB-PD",
                    "type": "synonym"
                },
                {
                    "name": "receptor expression enhancing protein B, isoform D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ReepB",
                    "type": "recommended"
                },
                {
                    "name": "CG8331",
                    "type": "synonym"
                },
                {
                    "name": "CT24597",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8331",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8331",
                    "type": "synonym"
                },
                {
                    "name": "ReepB",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z9M2-1",
            "evidence": [
                {
                    "id": "0080350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080350"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VBM3-1",
            "uniprot_ac": "Q9VBM3",
            "uniprot_id": "Q9VBM3_DROME",
            "refseq_ac": "NP_001287533",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Receptor expression-enhancing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG4960-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BcDNA:AT31258",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT31258",
                    "type": "synonym"
                },
                {
                    "name": "CG4960",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4960",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4960",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VBM3-1",
            "evidence": [
                {
                    "id": "0080350",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080350"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080350"
}