{
    "disease_id": "DOID:0110238",
    "recommended_name": {
        "id": "DOID:0110238",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110238",
        "name": "cataract 18",
        "description": "A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110238",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110238",
            "name": "CATC2",
            "description": ""
        },
        {
            "id": "DOID:0110238",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110238",
            "name": "CTRCT18",
            "description": ""
        },
        {
            "id": "DOID:0110238",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110238",
            "name": "autosomal recessive congenital cataract 2",
            "description": ""
        },
        {
            "id": "DOID:0110238",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110238",
            "name": "cataract 18 autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0012395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012395",
            "name": "cataract 18",
            "description": "Any cataract in which the cause of the disease is a mutation in the FYCO1 gene."
        },
        {
            "id": "MONDO:0012395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012395",
            "name": "CATC2",
            "description": ""
        },
        {
            "id": "MONDO:0012395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012395",
            "name": "CTRCT18",
            "description": ""
        },
        {
            "id": "MONDO:0012395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012395",
            "name": "FYCO1 cataract (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0012395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012395",
            "name": "cataract (disease) caused by mutation in FYCO1",
            "description": ""
        },
        {
            "id": "MONDO:0012395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012395",
            "name": "cataract 18",
            "description": ""
        },
        {
            "id": "MONDO:0012395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012395",
            "name": "cataract 18, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0012395",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012395",
            "name": "cataract type 18",
            "description": ""
        },
        {
            "id": "MIM:610019",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610019",
            "name": "Cataract 18",
            "description": "Cataract 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110238"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110238",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110238",
            "categories": []
        },
        {
            "id": "MONDO:0012395",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012395",
            "categories": []
        },
        {
            "id": "MIM:610019",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610019",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58HXM1-1",
            "uniprot_ac": "A0AC58HXM1",
            "uniprot_id": "A0AC58HXM1_DANRE",
            "refseq_ac": "XP_073786728",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "FYVE and coiled-coil domain-containing protein 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fyco1b",
                    "type": "recommended"
                },
                {
                    "name": "fyco1b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HXM1-1",
            "evidence": [
                {
                    "id": "0110238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110238"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8VDC1-1",
            "uniprot_ac": "Q8VDC1",
            "uniprot_id": "FYCO1_MOUSE",
            "refseq_ac": "NP_001103723",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "FYVE and coiled-coil domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "FYVE and coiled-coil domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "maternal embryonic message 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fyco1",
                    "type": "recommended"
                },
                {
                    "name": "2810409M01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fyco1",
                    "type": "synonym"
                },
                {
                    "name": "Mem2",
                    "type": "synonym"
                },
                {
                    "name": "RUFY3",
                    "type": "synonym"
                },
                {
                    "name": "ZFYVE7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8VDC1-1",
            "evidence": [
                {
                    "id": "0110238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110238"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BQS8-1",
            "uniprot_ac": "Q9BQS8",
            "uniprot_id": "FYCO1_HUMAN",
            "refseq_ac": "NP_078789",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "FYVE and coiled-coil domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "FYVE and coiled-coil domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "FYVE and coiled-coil domain-containing protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "FYVE and coiled-coil domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "RUN and FYVE domain containing 3",
                    "type": "synonym"
                },
                {
                    "name": "Zinc finger FYVE domain-containing protein 7",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger FYVE domain-containing protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FYCO1",
                    "type": "recommended"
                },
                {
                    "name": "CATC2",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT18",
                    "type": "synonym"
                },
                {
                    "name": "FYCO1",
                    "type": "synonym"
                },
                {
                    "name": "RUFY3",
                    "type": "synonym"
                },
                {
                    "name": "ZFYVE7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BQS8-1",
            "evidence": [
                {
                    "id": "610019",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610019"
                },
                {
                    "id": "0110238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110238"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z9D2-1",
            "uniprot_ac": "D3Z9D2",
            "uniprot_id": "D3Z9D2_RAT",
            "refseq_ac": "NP_001100340",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "FYVE and coiled-coil domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "FYVE and coiled-coil domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "FYVE and coiled-coil domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fyco1",
                    "type": "recommended"
                },
                {
                    "name": "Fyco1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z9D2-1",
            "evidence": [
                {
                    "id": "0110238",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110238"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110238"
}