{
    "disease_id": "DOID:0110371",
    "recommended_name": {
        "id": "DOID:0110371",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110371",
        "name": "retinitis pigmentosa 56",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the IMPG2 gene on chromosome 3q12.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110371",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110371",
            "name": "RP56",
            "description": ""
        },
        {
            "id": "MONDO:0013314",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013314",
            "name": "retinitis pigmentosa 56",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene."
        },
        {
            "id": "MONDO:0013314",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013314",
            "name": "IMPG2 retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0013314",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013314",
            "name": "RP56",
            "description": ""
        },
        {
            "id": "MONDO:0013314",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013314",
            "name": "retinitis pigmentosa 56",
            "description": ""
        },
        {
            "id": "MONDO:0013314",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013314",
            "name": "retinitis pigmentosa caused by mutation in IMPG2",
            "description": ""
        },
        {
            "id": "MONDO:0013314",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013314",
            "name": "retinitis pigmentosa type 56",
            "description": ""
        },
        {
            "id": "MIM:613581",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613581",
            "name": "Retinitis pigmentosa 56",
            "description": "Retinitis pigmentosa 56"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110371"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110371",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110371",
            "categories": []
        },
        {
            "id": "MONDO:0013314",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013314",
            "categories": []
        },
        {
            "id": "MIM:613581",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613581",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9Q7I3-1",
            "uniprot_ac": "A0A8M9Q7I3",
            "uniprot_id": "A0A8M9Q7I3_DANRE",
            "refseq_ac": "XP_021329195",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "Sialoprotein associated with cones and rods proteoglycan",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein impg2b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "impg2b",
                    "type": "recommended"
                },
                {
                    "name": "impg2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9Q7I3-1",
            "evidence": [
                {
                    "id": "0110371",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110371"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q80XH2-1",
            "uniprot_ac": "Q80XH2",
            "uniprot_id": "IMPG2_MOUSE",
            "refseq_ac": "NP_777365",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "Sialoprotein associated with cones and rods proteoglycan",
                    "type": "synonym"
                },
                {
                    "name": "Spacrcan",
                    "type": "synonym"
                },
                {
                    "name": "interphotoreceptor matrix proteoglycan 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "sialoprotein associated with cones and rods proteoglycan",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Impg2",
                    "type": "recommended"
                },
                {
                    "name": "IPM200",
                    "type": "synonym"
                },
                {
                    "name": "Impg2",
                    "type": "synonym"
                },
                {
                    "name": "PG10.2",
                    "type": "synonym"
                },
                {
                    "name": "Rsbp",
                    "type": "synonym"
                },
                {
                    "name": "Spacrcan",
                    "type": "synonym"
                }
            ],
            "record_id": "Q80XH2-1",
            "evidence": [
                {
                    "id": "0110371",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110371"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BZV3-1",
            "uniprot_ac": "Q9BZV3",
            "uniprot_id": "IMPG2_HUMAN",
            "refseq_ac": "NP_057331",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "IPM 200",
                    "type": "synonym"
                },
                {
                    "name": "Interphotoreceptor matrix proteoglycan of 200 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Sialoprotein associated with cones and rods proteoglycan",
                    "type": "synonym"
                },
                {
                    "name": "Spacrcan",
                    "type": "synonym"
                },
                {
                    "name": "interphotoreceptor matrix proteoglycan 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "interphotoreceptor matrix proteoglycan IPM 200",
                    "type": "synonym"
                },
                {
                    "name": "interphotoreceptor matrix proteoglycan of 200 kDa",
                    "type": "synonym"
                },
                {
                    "name": "sialoprotein associated with cones and rods proteoglycan",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IMPG2",
                    "type": "recommended"
                },
                {
                    "name": "IMPG2",
                    "type": "synonym"
                },
                {
                    "name": "IPM200",
                    "type": "synonym"
                },
                {
                    "name": "RP56",
                    "type": "synonym"
                },
                {
                    "name": "SPACRCAN",
                    "type": "synonym"
                },
                {
                    "name": "VMD5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BZV3-1",
            "evidence": [
                {
                    "id": "613581",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613581"
                },
                {
                    "id": "0110371",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110371"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70628-1",
            "uniprot_ac": "P70628",
            "uniprot_id": "IMPG2_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interphotoreceptor matrix proteoglycan 2",
                    "type": "recommended"
                },
                {
                    "name": "PG10.2",
                    "type": "synonym"
                },
                {
                    "name": "Sialoprotein associated with cones and rods proteoglycan",
                    "type": "synonym"
                },
                {
                    "name": "Spacrcan",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Impg2",
                    "type": "recommended"
                }
            ],
            "record_id": "P70628-1",
            "evidence": [
                {
                    "id": "0110371",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110371"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110371"
}