{
    "disease_id": "DOID:0060866",
    "recommended_name": {
        "id": "DOID:0060866",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060866",
        "name": "patterned macular dystrophy 1",
        "description": "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21."
    },
    "synonyms": [
        {
            "id": "DOID:0060866",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060866",
            "name": "MDPT1",
            "description": ""
        },
        {
            "id": "DOID:0060866",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060866",
            "name": "butterfly-shaped pigmentary maculary dystrophy 1",
            "description": ""
        },
        {
            "id": "MONDO:0008210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008210",
            "name": "patterned macular dystrophy 1",
            "description": "Any patterned macular dystrophy in which the cause of the disease is a mutation in the PRPH2 gene."
        },
        {
            "id": "MONDO:0008210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008210",
            "name": "MDPT1",
            "description": ""
        },
        {
            "id": "MONDO:0008210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008210",
            "name": "PRPH2 patterned macular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0008210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008210",
            "name": "macular dystrophy, butterfly-shaped pigmentary",
            "description": ""
        },
        {
            "id": "MONDO:0008210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008210",
            "name": "macular dystrophy, patterned, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008210",
            "name": "patterned macular dystrophy caused by mutation in PRPH2",
            "description": ""
        },
        {
            "id": "MONDO:0008210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008210",
            "name": "patterned macular dystrophy type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008210",
            "name": "butterfly-shaped pigment dystrophy of the fovea",
            "description": ""
        },
        {
            "id": "MONDO:0008210",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008210",
            "name": "macular dystrophy, patterned, 1",
            "description": ""
        },
        {
            "id": "MIM:169150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/169150",
            "name": "Macular dystrophy, patterned, 1",
            "description": "Macular dystrophy, patterned, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060866"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060866",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060866",
            "categories": []
        },
        {
            "id": "MONDO:0008210",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008210",
            "categories": []
        },
        {
            "id": "MIM:169150",
            "database": "MIM",
            "url": "https://www.omim.org/entry/169150",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P15499-1",
            "uniprot_ac": "P15499",
            "uniprot_id": "PRPH2_MOUSE",
            "refseq_ac": "NP_032964",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peripherin-2",
                    "type": "recommended"
                },
                {
                    "name": "Retinal degeneration slow protein",
                    "type": "synonym"
                },
                {
                    "name": "peripherin-2",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration 2",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration slow protein",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration, slow (retinitis pigmentosa 7)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prph2",
                    "type": "recommended"
                },
                {
                    "name": "AOFMD",
                    "type": "synonym"
                },
                {
                    "name": "AVMD",
                    "type": "synonym"
                },
                {
                    "name": "Nmf193",
                    "type": "synonym"
                },
                {
                    "name": "PRPH",
                    "type": "synonym"
                },
                {
                    "name": "Prph2",
                    "type": "synonym"
                },
                {
                    "name": "RP7",
                    "type": "synonym"
                },
                {
                    "name": "Rd-2",
                    "type": "synonym"
                },
                {
                    "name": "Rd2",
                    "type": "synonym"
                },
                {
                    "name": "Rds",
                    "type": "synonym"
                },
                {
                    "name": "Tspan22",
                    "type": "synonym"
                },
                {
                    "name": "rds",
                    "type": "synonym"
                }
            ],
            "record_id": "P15499-1",
            "evidence": [
                {
                    "id": "0060866",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060866"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23942-1",
            "uniprot_ac": "P23942",
            "uniprot_id": "PRPH2_HUMAN",
            "refseq_ac": "NP_000313",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peripherin-2",
                    "type": "recommended"
                },
                {
                    "name": "Retinal degeneration slow protein",
                    "type": "synonym"
                },
                {
                    "name": "Tetraspanin-22",
                    "type": "synonym"
                },
                {
                    "name": "Tspan-22",
                    "type": "synonym"
                },
                {
                    "name": "choroidal dystrophy, central areolar 2",
                    "type": "synonym"
                },
                {
                    "name": "peripherin 2 (retinal degeneration, slow)",
                    "type": "synonym"
                },
                {
                    "name": "peripherin 2, homolog of mouse",
                    "type": "synonym"
                },
                {
                    "name": "peripherin, photoreceptor type",
                    "type": "synonym"
                },
                {
                    "name": "peripherin-2",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration slow protein",
                    "type": "synonym"
                },
                {
                    "name": "retinal peripherin",
                    "type": "synonym"
                },
                {
                    "name": "tetraspanin-22",
                    "type": "synonym"
                },
                {
                    "name": "tspan-22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRPH2",
                    "type": "recommended"
                },
                {
                    "name": "AOFMD",
                    "type": "synonym"
                },
                {
                    "name": "AVMD",
                    "type": "synonym"
                },
                {
                    "name": "CACD2",
                    "type": "synonym"
                },
                {
                    "name": "DS",
                    "type": "synonym"
                },
                {
                    "name": "MDBS1",
                    "type": "synonym"
                },
                {
                    "name": "PRPH2",
                    "type": "synonym"
                },
                {
                    "name": "PRPH",
                    "type": "synonym"
                },
                {
                    "name": "RDS",
                    "type": "synonym"
                },
                {
                    "name": "RP7",
                    "type": "synonym"
                },
                {
                    "name": "TSPAN22",
                    "type": "synonym"
                },
                {
                    "name": "rd2",
                    "type": "synonym"
                }
            ],
            "record_id": "P23942-1",
            "evidence": [
                {
                    "id": "169150",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/169150"
                },
                {
                    "id": "0060866",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060866"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17438-1",
            "uniprot_ac": "P17438",
            "uniprot_id": "PRPH2_RAT",
            "refseq_ac": "NP_037153",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peripherin-2",
                    "type": "recommended"
                },
                {
                    "name": "Retinal degeneration slow protein",
                    "type": "synonym"
                },
                {
                    "name": "peripherin-2",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration slow protein",
                    "type": "synonym"
                },
                {
                    "name": "retinal degeneration, slow",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prph2",
                    "type": "recommended"
                },
                {
                    "name": "Prph2",
                    "type": "synonym"
                },
                {
                    "name": "RSRDS",
                    "type": "synonym"
                },
                {
                    "name": "Rds",
                    "type": "synonym"
                }
            ],
            "record_id": "P17438-1",
            "evidence": [
                {
                    "id": "0060866",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060866"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060866"
}