{
    "disease_id": "DOID:0110262",
    "recommended_name": {
        "id": "DOID:0110262",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110262",
        "name": "cataract 45",
        "description": "A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110262",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110262",
            "name": "CTRCT45",
            "description": ""
        },
        {
            "id": "MONDO:0014799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014799",
            "name": "cataract 45",
            "description": "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the SIPA1L3 gene."
        },
        {
            "id": "MONDO:0014799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014799",
            "name": "CTRCT45",
            "description": ""
        },
        {
            "id": "MONDO:0014799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014799",
            "name": "SIPA1L3 early-onset non-syndromic cataract",
            "description": ""
        },
        {
            "id": "MONDO:0014799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014799",
            "name": "cataract 45",
            "description": ""
        },
        {
            "id": "MONDO:0014799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014799",
            "name": "cataract type 45",
            "description": ""
        },
        {
            "id": "MONDO:0014799",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014799",
            "name": "early-onset non-syndromic cataract caused by mutation in SIPA1L3",
            "description": ""
        },
        {
            "id": "MIM:616851",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616851",
            "name": "Cataract 45",
            "description": "Cataract 45"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110262"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110262",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110262",
            "categories": []
        },
        {
            "id": "MONDO:0014799",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014799",
            "categories": []
        },
        {
            "id": "MIM:616851",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616851",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BKX6-1",
            "uniprot_ac": "A0A8M2BKX6",
            "uniprot_id": "A0A8M2BKX6_DANRE",
            "refseq_ac": "XP_005173729",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal-induced proliferation-associated 1-like protein 3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "signal-induced proliferation-associated 1-like protein 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sipa1l3",
                    "type": "recommended"
                },
                {
                    "name": "sipa1l3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BKX6-1",
            "evidence": [
                {
                    "id": "0110262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3X9J0-1",
            "uniprot_ac": "G3X9J0",
            "uniprot_id": "SI1L3_MOUSE",
            "refseq_ac": "NP_001074497",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal-induced proliferation-associated 1-like protein 3",
                    "type": "recommended"
                },
                {
                    "name": "SIPA1-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "SPA-1-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "signal-induced proliferation-associated 1-like protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sipa1l3",
                    "type": "recommended"
                },
                {
                    "name": "2610511M17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Sipa1l3",
                    "type": "synonym"
                },
                {
                    "name": "Spal3",
                    "type": "synonym"
                }
            ],
            "record_id": "G3X9J0-1",
            "evidence": [
                {
                    "id": "0110262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60292-1",
            "uniprot_ac": "O60292",
            "uniprot_id": "SI1L3_HUMAN",
            "refseq_ac": "NP_055888",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal-induced proliferation-associated 1-like protein 3",
                    "type": "recommended"
                },
                {
                    "name": "SIPA1-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "SPA-1-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "signal-induced proliferation-associated 1-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "spine-associated RapGAP 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SIPA1L3",
                    "type": "recommended"
                },
                {
                    "name": "CTRCT45",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0545",
                    "type": "synonym"
                },
                {
                    "name": "SIPA1L3",
                    "type": "synonym"
                },
                {
                    "name": "SPAL3",
                    "type": "synonym"
                },
                {
                    "name": "SPAR3",
                    "type": "synonym"
                }
            ],
            "record_id": "O60292-1",
            "evidence": [
                {
                    "id": "616851",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616851"
                },
                {
                    "id": "0110262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LYG2-1",
            "uniprot_ac": "F1LYG2",
            "uniprot_id": "F1LYG2_RAT",
            "refseq_ac": "NP_001358027",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Signal-induced proliferation-associated 1 like 3",
                    "type": "synonym"
                },
                {
                    "name": "signal-induced proliferation-associated 1-like protein 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sipa1l3",
                    "type": "recommended"
                },
                {
                    "name": "Sipa1l3",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LYG2-1",
            "evidence": [
                {
                    "id": "0110262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110262"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110262"
}