{
    "disease_id": "DOID:0111563",
    "recommended_name": {
        "id": "DOID:0111563",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111563",
        "name": "Sturge-Weber syndrome",
        "description": "A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111563",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111563",
            "name": "SWS",
            "description": ""
        },
        {
            "id": "DOID:0111563",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111563",
            "name": "Sturge-Weber-Dimitri syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111563",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111563",
            "name": "Sturge-Weber-Krabbe angiomatosis",
            "description": ""
        },
        {
            "id": "DOID:0111563",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111563",
            "name": "Sturge-Weber-Krabbe syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111563",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111563",
            "name": "encephalofacial angiomatosis",
            "description": ""
        },
        {
            "id": "DOID:0111563",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111563",
            "name": "encephalotrigeminal angiomatosis",
            "description": ""
        },
        {
            "id": "DOID:0111563",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111563",
            "name": "fourth phacomatosis",
            "description": ""
        },
        {
            "id": "DOID:0111563",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111563",
            "name": "leptomeningeal angiomatosis",
            "description": ""
        },
        {
            "id": "DOID:0111563",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111563",
            "name": "meningeal capillary angiomatosis",
            "description": ""
        },
        {
            "id": "MONDO:0008501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008501",
            "name": "Sturge-Weber syndrome",
            "description": "Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies."
        },
        {
            "id": "MONDO:0008501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008501",
            "name": "SWS",
            "description": ""
        },
        {
            "id": "MONDO:0008501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008501",
            "name": "Sturge Weber Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008501",
            "name": "Sturge Weber syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008501",
            "name": "Sturge-Weber disease",
            "description": ""
        },
        {
            "id": "MONDO:0008501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008501",
            "name": "Sturge-Weber syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008501",
            "name": "Sturge-Weber syndrome, somatic, mosaic",
            "description": ""
        },
        {
            "id": "MONDO:0008501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008501",
            "name": "Sturge-Weber-Dimitri syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008501",
            "name": "Sturge-Weber-Krabbe angiomatosis",
            "description": ""
        },
        {
            "id": "MONDO:0008501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008501",
            "name": "Sturge-Weber-Krabbe syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008501",
            "name": "encephalofacial angiomatosis",
            "description": ""
        },
        {
            "id": "MONDO:0008501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008501",
            "name": "encephalotrigeminal angiomatosis",
            "description": ""
        },
        {
            "id": "MONDO:0008501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008501",
            "name": "encephalotrigeminal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008501",
            "name": "SWS type I - Facial and leptomeningeal angiomas",
            "description": ""
        },
        {
            "id": "MONDO:0008501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008501",
            "name": "SWS type II - Facial angioma alone, no CNS involvement",
            "description": ""
        },
        {
            "id": "MONDO:0008501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008501",
            "name": "SWS type III - isolated leptomeningeal angiomas",
            "description": ""
        },
        {
            "id": "MONDO:0008501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008501",
            "name": "fourth phacomatosis",
            "description": ""
        },
        {
            "id": "MONDO:0008501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008501",
            "name": "leptomeningeal angiomatosis",
            "description": ""
        },
        {
            "id": "MONDO:0008501",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008501",
            "name": "meningeal capillary angiomatosis",
            "description": ""
        },
        {
            "id": "MIM:185300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/185300",
            "name": "Sturge-Weber syndrome",
            "description": "Sturge-Weber syndrome"
        }
    ],
    "children": [],
    "id_list": [
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    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111563",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111563",
            "categories": []
        },
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            "id": "MONDO:0008501",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008501",
            "categories": []
        },
        {
            "id": "MIM:185300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/185300",
            "categories": []
        }
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        {
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            "uniprot_ac": "B8JLJ7",
            "uniprot_id": "B8JLJ7_DANRE",
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            "species": [
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Guanine nucleotide-binding protein subunit alpha",
                    "type": "recommended"
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                    "name": "Galpha q",
                    "type": "synonym"
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                {
                    "name": "gnaqa",
                    "type": "synonym"
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                    "name": "guanine nucleotide-binding protein G(q) subunit alpha",
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                    "name": "Fibronectin",
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                    "name": "fibronectin 1a precursor",
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                    "name": "fibronectin 1",
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                    "name": "fb80d10",
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            ],
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                    "name": "3.6.5.-",
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                    "name": "6230401I02Rik",
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                    "name": "Dsk10",
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                    "name": "GqI",
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                    "name": "72 kDa type IV collagenase",
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                    "name": "Matrix metalloproteinase-2",
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                    "name": "matrix metalloproteinase 2",
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                    "id": "0111563",
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                {
                    "name": "MMP2",
                    "type": "recommended"
                },
                {
                    "name": "CLG4A",
                    "type": "synonym"
                },
                {
                    "name": "CLG4",
                    "type": "synonym"
                },
                {
                    "name": "MMP-2",
                    "type": "synonym"
                },
                {
                    "name": "MMP-II",
                    "type": "synonym"
                },
                {
                    "name": "MMP2",
                    "type": "synonym"
                },
                {
                    "name": "MONA",
                    "type": "synonym"
                },
                {
                    "name": "TBE-1",
                    "type": "synonym"
                }
            ],
            "record_id": "P08253-1",
            "evidence": [
                {
                    "id": "0111563",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111563"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02751-15",
            "uniprot_ac": "P02751",
            "uniprot_id": "FINC_HUMAN",
            "refseq_ac": "NP_473375",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibronectin",
                    "type": "recommended"
                },
                {
                    "name": "CIG",
                    "type": "synonym"
                },
                {
                    "name": "Cold-insoluble globulin",
                    "type": "synonym"
                },
                {
                    "name": "FN",
                    "type": "synonym"
                },
                {
                    "name": "cold-insoluble globulin",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "fibronectin isoform 7 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "lnc-ABCA12-8",
                    "type": "synonym"
                },
                {
                    "name": "migration-stimulating factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FN1",
                    "type": "recommended"
                },
                {
                    "name": "CIG",
                    "type": "synonym"
                },
                {
                    "name": "ED-B",
                    "type": "synonym"
                },
                {
                    "name": "FINC",
                    "type": "synonym"
                },
                {
                    "name": "FN1",
                    "type": "synonym"
                },
                {
                    "name": "FNZ",
                    "type": "synonym"
                },
                {
                    "name": "FN",
                    "type": "synonym"
                },
                {
                    "name": "GFND2",
                    "type": "synonym"
                },
                {
                    "name": "GFND",
                    "type": "synonym"
                },
                {
                    "name": "LETS",
                    "type": "synonym"
                },
                {
                    "name": "MSF",
                    "type": "synonym"
                },
                {
                    "name": "SMDCF",
                    "type": "synonym"
                }
            ],
            "record_id": "P02751-15",
            "evidence": [
                {
                    "id": "0111563",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111563"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111563"
}