{
    "disease_id": "DOID:0111677",
    "recommended_name": {
        "id": "DOID:0111677",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111677",
        "name": "familial benign fleck retina",
        "description": "A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the PLA2G5 gene on chromosome 1p36.13."
    },
    "synonyms": [
        {
            "id": "DOID:0111677",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111677",
            "name": "FRFB",
            "description": ""
        },
        {
            "id": "MONDO:0009235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009235",
            "name": "familial benign flecked retina",
            "description": "Familial benign flecked retina is a rare retinal dystrophy characterized by diffuse bilateral white-yellow fleck-like lessions extending to the far periphery of the retina but sparing the foveal region, with asymptomatic clinical phenotype and absence of electrophysiologic deficits."
        },
        {
            "id": "MONDO:0009235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009235",
            "name": "fleck retina, familial benign",
            "description": ""
        },
        {
            "id": "MONDO:0009235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009235",
            "name": "FLECK retina, familial benign",
            "description": ""
        },
        {
            "id": "MONDO:0009235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009235",
            "name": "FRFB",
            "description": ""
        },
        {
            "id": "MIM:228980",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/228980",
            "name": "Fleck retina, familial benign",
            "description": "Fleck retina, familial benign"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111677"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111677",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111677",
            "categories": []
        },
        {
            "id": "MONDO:0009235",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009235",
            "categories": []
        },
        {
            "id": "MIM:228980",
            "database": "MIM",
            "url": "https://www.omim.org/entry/228980",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P97391-1",
            "uniprot_ac": "P97391",
            "uniprot_id": "PA2G5_MOUSE",
            "refseq_ac": "NP_001116426",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipase A2 group V",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.4",
                    "type": "synonym"
                },
                {
                    "name": "PLA2-10",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylcholine 2-acylhydrolase 5",
                    "type": "synonym"
                },
                {
                    "name": "calcium-dependent phospholipase A2",
                    "type": "synonym"
                },
                {
                    "name": "group V phospholipase A2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylcholine 2-acylhydrolase 5",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase A2 group V precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pla2g5",
                    "type": "recommended"
                },
                {
                    "name": "PLA2-10",
                    "type": "synonym"
                },
                {
                    "name": "PLA2",
                    "type": "synonym"
                },
                {
                    "name": "Pla2g5",
                    "type": "synonym"
                },
                {
                    "name": "sPLA2",
                    "type": "synonym"
                }
            ],
            "record_id": "P97391-1",
            "evidence": [
                {
                    "id": "0111677",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111677"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39877-1",
            "uniprot_ac": "P39877",
            "uniprot_id": "PA2G5_HUMAN",
            "refseq_ac": "NP_000920",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipase A2 group V",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.4",
                    "type": "synonym"
                },
                {
                    "name": "Ca2+-dependent phospholipase A2",
                    "type": "synonym"
                },
                {
                    "name": "PLA2-10",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylcholine 2-acylhydrolase 5",
                    "type": "synonym"
                },
                {
                    "name": "calcium-dependent phospholipase A2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylcholine 2-acylhydrolase 5",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase A2 group V precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PLA2G5",
                    "type": "recommended"
                },
                {
                    "name": "FRFB",
                    "type": "synonym"
                },
                {
                    "name": "GV-PLA2",
                    "type": "synonym"
                },
                {
                    "name": "PLA2-10",
                    "type": "synonym"
                },
                {
                    "name": "PLA2G5",
                    "type": "synonym"
                },
                {
                    "name": "hVPLA(2)",
                    "type": "synonym"
                }
            ],
            "record_id": "P39877-1",
            "evidence": [
                {
                    "id": "228980",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/228980"
                },
                {
                    "id": "0111677",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111677"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51433-1",
            "uniprot_ac": "P51433",
            "uniprot_id": "PA2G5_RAT",
            "refseq_ac": "NP_058870",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipase A2 group V",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.4",
                    "type": "synonym"
                },
                {
                    "name": "PLA2-10",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylcholine 2-acylhydrolase 5",
                    "type": "synonym"
                },
                {
                    "name": "calcium-dependent phospholipase A2",
                    "type": "synonym"
                },
                {
                    "name": "group V phospholipase A2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylcholine 2-acylhydrolase 5",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase A2 group V precursor",
                    "type": "synonym"
                },
                {
                    "name": "phospholipase A2, group 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pla2g5",
                    "type": "recommended"
                },
                {
                    "name": "PLA2-10",
                    "type": "synonym"
                },
                {
                    "name": "Pla2g5",
                    "type": "synonym"
                }
            ],
            "record_id": "P51433-1",
            "evidence": [
                {
                    "id": "0111677",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111677"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IML0-1",
            "uniprot_ac": "Q8IML0",
            "uniprot_id": "Q8IML0_DROME",
            "refseq_ac": "NP_001097964",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipase A2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.4",
                    "type": "synonym"
                },
                {
                    "name": "CG14507-PC",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG14507",
                    "type": "recommended"
                },
                {
                    "name": "CG14507",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14507",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14507",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IML0-1",
            "evidence": [
                {
                    "id": "0111677",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111677"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111677"
}