{
    "disease_id": "DOID:0061106",
    "recommended_name": {
        "id": "DOID:0061106",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061106",
        "name": "retinitis pigmentosa 91",
        "description": "A retinitis pigmentosa characterized by night blindness and constriction of visual fields, with bone-spicule pigmentation, attenuation of retinal vessels, and optic disc pallor on funduscopy that has_material_basis_in heterozygous mutation in the IMPG1 gene on chromosome 6q14."
    },
    "synonyms": [
        {
            "id": "DOID:0061106",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061106",
            "name": "RP91",
            "description": ""
        },
        {
            "id": "MONDO:0007934",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007934",
            "name": "benign concentric annular macular dystrophy",
            "description": "Benign concentric annular macular dystrophy (BCAMD) is a progressive autosomal dominant macular dystrophy characterized by parafoveal hypopigmentation followed by a retinitis pigmentosa-like phenotype (nyctalopia and peripheral vision loss) with a bullBs eye configuration."
        },
        {
            "id": "MONDO:0007934",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007934",
            "name": "retinitis pigmentosa 91",
            "description": ""
        },
        {
            "id": "MONDO:0007934",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007934",
            "name": "Mcdca",
            "description": ""
        },
        {
            "id": "MONDO:0007934",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007934",
            "name": "macular dystrophy, benign concentric annular",
            "description": ""
        },
        {
            "id": "MONDO:0007934",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007934",
            "name": "macular dystrophy, concentric annular",
            "description": ""
        },
        {
            "id": "MONDO:0007934",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007934",
            "name": "maculopathy, bull's eye",
            "description": ""
        },
        {
            "id": "MIM:153870",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/153870",
            "name": "Retinitis pigmentosa 91",
            "description": "Retinitis pigmentosa 91"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061106"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061106",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061106",
            "categories": []
        },
        {
            "id": "MONDO:0007934",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007934",
            "categories": []
        },
        {
            "id": "MIM:153870",
            "database": "MIM",
            "url": "https://www.omim.org/entry/153870",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R045-1",
            "uniprot_ac": "F1R045",
            "uniprot_id": "F1R045_DANRE",
            "refseq_ac": "XP_021322694",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "P-type phospholipid transporter",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "retinal-specific phospholipid-transporting ATPase ABCA4 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "abca4b",
                    "type": "recommended"
                },
                {
                    "name": "abca4b",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R045-1",
            "evidence": [
                {
                    "id": "0061106",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061106"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3AJ68-1",
            "uniprot_ac": "A0A8M3AJ68",
            "uniprot_id": "A0A8M3AJ68_DANRE",
            "refseq_ac": "XP_009291488",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interphotoreceptor matrix proteoglycan 1",
                    "type": "recommended"
                },
                {
                    "name": "Sialoprotein associated with cones and rods",
                    "type": "synonym"
                },
                {
                    "name": "interphotoreceptor matrix proteoglycan 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "impg1b",
                    "type": "recommended"
                },
                {
                    "name": "impg1b",
                    "type": "synonym"
                }
            ],
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                    "id": "0061106",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35600-1",
            "uniprot_ac": "O35600",
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            "refseq_ac": "NP_031404",
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            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Retinal-specific phospholipid-transporting ATPase ABCA4",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette 10",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family A member 4",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family A (ABC1), member 4",
                    "type": "synonym"
                },
                {
                    "name": "RIM ABC transporter",
                    "type": "synonym"
                },
                {
                    "name": "RIM protein",
                    "type": "synonym"
                },
                {
                    "name": "Retinal-specific ATP-binding cassette transporter",
                    "type": "synonym"
                },
                {
                    "name": "Rim protein",
                    "type": "synonym"
                },
                {
                    "name": "RmP",
                    "type": "synonym"
                },
                {
                    "name": "retinal-specific ATP-binding cassette transporter",
                    "type": "synonym"
                },
                {
                    "name": "retinal-specific phospholipid-transporting ATPase ABCA4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abca4",
                    "type": "recommended"
                },
                {
                    "name": "Abc10",
                    "type": "synonym"
                },
                {
                    "name": "Abca4",
                    "type": "synonym"
                },
                {
                    "name": "Abcr",
                    "type": "synonym"
                },
                {
                    "name": "D430003I15Rik",
                    "type": "synonym"
                },
                {
                    "name": "RmP",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0061106",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061106"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R1W8-1",
            "uniprot_ac": "Q8R1W8",
            "uniprot_id": "IMPG1_MOUSE",
            "refseq_ac": "NP_071299",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interphotoreceptor matrix proteoglycan 1",
                    "type": "recommended"
                },
                {
                    "name": "IPM-150",
                    "type": "synonym"
                },
                {
                    "name": "Interphotoreceptor matrix proteoglycan of 150 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Sialoprotein associated with cones and rods",
                    "type": "synonym"
                },
                {
                    "name": "interphotoreceptor matrix proteoglycan 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "interphotoreceptor matrix proteoglycan of 150 kDa",
                    "type": "synonym"
                },
                {
                    "name": "sialoprotein associated with cones and rods",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Impg1",
                    "type": "recommended"
                },
                {
                    "name": "A930015H12Rik",
                    "type": "synonym"
                },
                {
                    "name": "IMP150",
                    "type": "synonym"
                },
                {
                    "name": "Impg1",
                    "type": "synonym"
                },
                {
                    "name": "SPACR",
                    "type": "synonym"
                },
                {
                    "name": "Spacr",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R1W8-1",
            "evidence": [
                {
                    "id": "0061106",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061106"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q17R60-1",
            "uniprot_ac": "Q17R60",
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            "refseq_ac": "NP_001269297",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interphotoreceptor matrix proteoglycan 1",
                    "type": "recommended"
                },
                {
                    "name": "IPM-150",
                    "type": "synonym"
                },
                {
                    "name": "Interphotoreceptor matrix proteoglycan of 150 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Sialoprotein associated with cones and rods",
                    "type": "synonym"
                },
                {
                    "name": "interphotoreceptor matrix proteoglycan 1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "interphotoreceptor matrix proteoglycan of 150 kDa",
                    "type": "synonym"
                },
                {
                    "name": "sialoprotein associated with cones and rods",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "IMPG1",
                    "type": "recommended"
                },
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                    "name": "GP147",
                    "type": "synonym"
                },
                {
                    "name": "IMPG1",
                    "type": "synonym"
                },
                {
                    "name": "IPM150",
                    "type": "synonym"
                },
                {
                    "name": "RP91",
                    "type": "synonym"
                },
                {
                    "name": "SPACR",
                    "type": "synonym"
                },
                {
                    "name": "VMD4",
                    "type": "synonym"
                }
            ],
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                    "id": "153870",
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                    "url": "https://www.omim.org/entry/153870"
                },
                {
                    "id": "0061106",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0061106"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5PQJ5-1",
            "uniprot_ac": "Q5PQJ5",
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            "refseq_ac": "NP_001009405",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Rho GTPase-activating protein 29",
                    "type": "recommended"
                },
                {
                    "name": "PTPL1-associated RhoGAP 1",
                    "type": "synonym"
                },
                {
                    "name": "Rho-type GTPase-activating protein 29",
                    "type": "synonym"
                },
                {
                    "name": "rho GTPase-activating protein 29 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "rho GTPase-activating protein 29",
                    "type": "synonym"
                },
                {
                    "name": "rho-type GTPase-activating protein 29",
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                }
            ],
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                    "name": "Arhgap29",
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                    "name": "Abca4",
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                },
                {
                    "name": "Arhgap29",
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                },
                {
                    "name": "B130017i01rik",
                    "type": "synonym"
                },
                {
                    "name": "RGD1306185",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0061106",
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                }
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            "uniprot_canonical_ac": "Q9ET62-1",
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                    "name": "Rattus norvegicus",
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                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Interphotoreceptor matrix proteoglycan 1",
                    "type": "recommended"
                },
                {
                    "name": "Mucin-like glycoprotein associated with photoreceptor cells",
                    "type": "synonym"
                },
                {
                    "name": "Sialoprotein associated with cones and rods",
                    "type": "synonym"
                },
                {
                    "name": "interphotoreceptor matrix proteoglycan 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "mucin-like glycoprotein associated with photoreceptor cells",
                    "type": "synonym"
                },
                {
                    "name": "sialoprotein associated with cones and rods",
                    "type": "synonym"
                }
            ],
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                    "name": "Impg1",
                    "type": "recommended"
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                {
                    "name": "Impg1",
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                {
                    "name": "Mlgapc",
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                    "id": "0061106",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0061106"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "X2JG15-1",
            "uniprot_ac": "X2JG15",
            "uniprot_id": "X2JG15_DROME",
            "refseq_ac": "NP_001285513",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "CG34120-PE",
                    "type": "synonym"
                },
                {
                    "name": "Lipid droplet defective, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "ldd-PE",
                    "type": "synonym"
                },
                {
                    "name": "lipid droplet defective, isoform E",
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                }
            ],
            "gene_names": [
                {
                    "name": "ldd",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT04622",
                    "type": "synonym"
                },
                {
                    "name": "CG1819",
                    "type": "synonym"
                },
                {
                    "name": "CG32516",
                    "type": "synonym"
                },
                {
                    "name": "CG34120",
                    "type": "synonym"
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                    "name": "DmCG1819",
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                {
                    "name": "Dmel\\CG34120",
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                    "name": "Dmel_CG34120",
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                {
                    "name": "ldd",
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            ],
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                {
                    "id": "0061106",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0061106"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P78363-1",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Retinal-specific phospholipid-transporting ATPase ABCA4",
                    "type": "recommended"
                },
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                    "name": "7.6.2.1",
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                },
                {
                    "name": "ATP binding cassette transporter",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family A member 4",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette transporter, retinal-specific",
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                },
                {
                    "name": "ATP-binding cassette, sub-family A (ABC1), member 4",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding transporter, retina-specific",
                    "type": "synonym"
                },
                {
                    "name": "RIM ABC transporter",
                    "type": "synonym"
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                {
                    "name": "RIM proteinv",
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                },
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                    "name": "RIM protein",
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                },
                {
                    "name": "Retinal-specific ATP-binding cassette transporter",
                    "type": "synonym"
                },
                {
                    "name": "RmP",
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                },
                {
                    "name": "Stargardt disease protein",
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                },
                {
                    "name": "photoreceptor rim protein",
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                },
                {
                    "name": "retina-specific ABC transporter",
                    "type": "synonym"
                },
                {
                    "name": "retinal-specific ATP-binding cassette transporter",
                    "type": "synonym"
                },
                {
                    "name": "retinal-specific phospholipid-transporting ATPase ABCA4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "retinal-specific phospholipid-transporting ATPase ABCA4",
                    "type": "synonym"
                },
                {
                    "name": "stargardt disease protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABCA4",
                    "type": "recommended"
                },
                {
                    "name": "ABC10",
                    "type": "synonym"
                },
                {
                    "name": "ABCA4",
                    "type": "synonym"
                },
                {
                    "name": "ABCR",
                    "type": "synonym"
                },
                {
                    "name": "ARMD2",
                    "type": "synonym"
                },
                {
                    "name": "CORD3",
                    "type": "synonym"
                },
                {
                    "name": "FFM",
                    "type": "synonym"
                },
                {
                    "name": "RMP",
                    "type": "synonym"
                },
                {
                    "name": "RP19",
                    "type": "synonym"
                },
                {
                    "name": "STGD1",
                    "type": "synonym"
                },
                {
                    "name": "STGD",
                    "type": "synonym"
                }
            ],
            "record_id": "P78363-1",
            "evidence": [
                {
                    "id": "0061106",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061106"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061106"
}