{
    "disease_id": "DOID:0060448",
    "recommended_name": {
        "id": "DOID:0060448",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060448",
        "name": "Fleck corneal dystrophy",
        "description": "A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34."
    },
    "synonyms": [
        {
            "id": "DOID:0060448",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060448",
            "name": "FCD",
            "description": ""
        },
        {
            "id": "DOID:0060448",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060448",
            "name": "Francois-Neetens speckled corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007376",
            "name": "fleck corneal dystrophy",
            "description": "Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity."
        },
        {
            "id": "MONDO:0007376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007376",
            "name": "FCD",
            "description": ""
        },
        {
            "id": "MONDO:0007376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007376",
            "name": "FranC'ois-Neetens speckled corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007376",
            "name": "Franois-Neetens speckled corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007376",
            "name": "corneal fleck dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0007376",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007376",
            "name": "fleck corneal dystrophy",
            "description": ""
        },
        {
            "id": "MIM:121850",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/121850",
            "name": "Corneal dystrophy, fleck",
            "description": "Corneal dystrophy, fleck"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060448"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060448",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060448",
            "categories": []
        },
        {
            "id": "MONDO:0007376",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007376",
            "categories": []
        },
        {
            "id": "MIM:121850",
            "database": "MIM",
            "url": "https://www.omim.org/entry/121850",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3BCH5-1",
            "uniprot_ac": "A0A8M3BCH5",
            "uniprot_id": "A0A8M3BCH5_DANRE",
            "refseq_ac": "XP_009302997",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 3-phosphate 5-kinase",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 3-phosphate 5-kinase isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.150",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "FYVE finger-containing phosphoinositide kinase",
                    "type": "synonym"
                },
                {
                    "name": "PIKfyve",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3-phosphate 5-kinase type III",
                    "type": "synonym"
                },
                {
                    "name": "Serine-protein kinase PIKFYVE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pikfyve",
                    "type": "recommended"
                },
                {
                    "name": "pikfyve",
                    "type": "synonym"
                },
                {
                    "name": "pip5k3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fo93c03",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3BCH5-1",
            "evidence": [
                {
                    "id": "0060448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z1T6-2",
            "uniprot_ac": "Q9Z1T6",
            "uniprot_id": "FYV1_MOUSE",
            "refseq_ac": "NP_001297553",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 3-phosphate 5-kinase",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 3-phosphate 5-kinase isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "1-phosphatidylinositol 3-phosphate 5-kinase",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.150",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "FYVE finger-containing phosphoinositide kinase",
                    "type": "synonym"
                },
                {
                    "name": "PIKfyve",
                    "type": "synonym"
                },
                {
                    "name": "PIPkin-III",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3-phosphate 5-kinase type III",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3-phosphate 5-kinase",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns(4)P-5-kinase",
                    "type": "synonym"
                },
                {
                    "name": "Serine-protein kinase PIKFYVE",
                    "type": "synonym"
                },
                {
                    "name": "Type III PIP kinase",
                    "type": "synonym"
                },
                {
                    "name": "p235",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-phosphate 5-kinase type III",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-4-phosphate 5-kinase, type III",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide kinase, FYVE finger containing",
                    "type": "synonym"
                },
                {
                    "name": "serine-protein kinase PIKFYVE",
                    "type": "synonym"
                },
                {
                    "name": "type III PIP kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pikfyve",
                    "type": "recommended"
                },
                {
                    "name": "5230400C17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fab1",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0981",
                    "type": "synonym"
                },
                {
                    "name": "Pikfyve",
                    "type": "synonym"
                },
                {
                    "name": "Pip5k3",
                    "type": "synonym"
                },
                {
                    "name": "Pip5k",
                    "type": "synonym"
                },
                {
                    "name": "Pipk5k3",
                    "type": "synonym"
                },
                {
                    "name": "PipkIII",
                    "type": "synonym"
                },
                {
                    "name": "p235",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z1T6-2",
            "evidence": [
                {
                    "id": "0060448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y2I7-1",
            "uniprot_ac": "Q9Y2I7",
            "uniprot_id": "FYV1_HUMAN",
            "refseq_ac": "NP_001171471",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 3-phosphate 5-kinase",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 3-phosphate 5-kinase isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "1-phosphatidylinositol 3-phosphate 5-kinase",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.150",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "FYVE finger-containing phosphoinositide kinase",
                    "type": "synonym"
                },
                {
                    "name": "PIKfyve",
                    "type": "synonym"
                },
                {
                    "name": "PIPkin-III",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3-phosphate 5-kinase type III",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3-phosphate 5-kinase",
                    "type": "synonym"
                },
                {
                    "name": "Serine-protein kinase PIKFYVE",
                    "type": "synonym"
                },
                {
                    "name": "Type III PIP kinase",
                    "type": "synonym"
                },
                {
                    "name": "epididymis luminal protein 37",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3-phosphate 5-kinase type III",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-3- phosphate/phosphatidylinositol 5-kinase, type III",
                    "type": "synonym"
                },
                {
                    "name": "phosphoinositide kinase, FYVE finger containing",
                    "type": "synonym"
                },
                {
                    "name": "serine-protein kinase PIKFYVE",
                    "type": "synonym"
                },
                {
                    "name": "type III PIP kinase",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger, FYVE domain containing 29",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIKFYVE",
                    "type": "recommended"
                },
                {
                    "name": "FAB1",
                    "type": "synonym"
                },
                {
                    "name": "HEL37",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0981",
                    "type": "synonym"
                },
                {
                    "name": "PIKFYVE",
                    "type": "synonym"
                },
                {
                    "name": "PIP5K3",
                    "type": "synonym"
                },
                {
                    "name": "PIP5K",
                    "type": "synonym"
                },
                {
                    "name": "ZFYVE29",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y2I7-1",
            "evidence": [
                {
                    "id": "121850",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/121850"
                },
                {
                    "id": "0060448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P34756-1",
            "uniprot_ac": "P34756",
            "uniprot_id": "FAB1_YEAST",
            "refseq_ac": "NP_116674",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 3-phosphate 5-kinase FAB1",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol-3-phosphate 5-kinase",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.150",
                    "type": "synonym"
                },
                {
                    "name": "Formation of aploid and binucleate cells protein 1",
                    "type": "synonym"
                },
                {
                    "name": "PIPkin-III",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3-phosphate 5-kinase",
                    "type": "synonym"
                },
                {
                    "name": "Styryl dye vacuolar localization protein 7",
                    "type": "synonym"
                },
                {
                    "name": "Type III PIP kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FAB1",
                    "type": "recommended"
                },
                {
                    "name": "FAB1",
                    "type": "synonym"
                },
                {
                    "name": "SVL7",
                    "type": "synonym"
                }
            ],
            "record_id": "P34756-1",
            "evidence": [
                {
                    "id": "0060448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZYT8-1",
            "uniprot_ac": "D3ZYT8",
            "uniprot_id": "D3ZYT8_RAT",
            "refseq_ac": "XP_006245136",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "1-phosphatidylinositol 3-phosphate 5-kinase",
                    "type": "recommended"
                },
                {
                    "name": "1-phosphatidylinositol 3-phosphate 5-kinase isoform X4",
                    "type": "synonym"
                },
                {
                    "name": "2.7.1.150",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "FYVE finger-containing phosphoinositide kinase",
                    "type": "synonym"
                },
                {
                    "name": "PIKfyve",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3-phosphate 5-kinase type III",
                    "type": "synonym"
                },
                {
                    "name": "Serine-protein kinase PIKFYVE",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pikfyve",
                    "type": "recommended"
                },
                {
                    "name": "Pikfyve",
                    "type": "synonym"
                },
                {
                    "name": "Pip5k3",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZYT8-1",
            "evidence": [
                {
                    "id": "0060448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060448"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O96838-1",
            "uniprot_ac": "O96838",
            "uniprot_id": "FYV1_DROME",
            "refseq_ac": "NP_611269",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative 1-phosphatidylinositol 3-phosphate 5-kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.150",
                    "type": "synonym"
                },
                {
                    "name": "CG6355-PA",
                    "type": "synonym"
                },
                {
                    "name": "PIPkin-III",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol 3-phosphate 5-kinase",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns(3)P 5-kinase",
                    "type": "synonym"
                },
                {
                    "name": "Type III PIP kinase",
                    "type": "synonym"
                },
                {
                    "name": "fab1 kinase, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "fab1-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fab1",
                    "type": "recommended"
                },
                {
                    "name": "CG6355",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6355",
                    "type": "synonym"
                },
                {
                    "name": "EG:52C10.5",
                    "type": "synonym"
                },
                {
                    "name": "Fab1",
                    "type": "synonym"
                },
                {
                    "name": "PI3P5K",
                    "type": "synonym"
                },
                {
                    "name": "PIKfyve",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns3P",
                    "type": "synonym"
                },
                {
                    "name": "fab-1",
                    "type": "synonym"
                },
                {
                    "name": "fab1",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SJB",
                    "type": "synonym"
                }
            ],
            "record_id": "O96838-1",
            "evidence": [
                {
                    "id": "0060448",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060448"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060448"
}