{
    "disease_id": "DOID:0080675",
    "recommended_name": {
        "id": "DOID:0080675",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080675",
        "name": "Stickler syndrome 2",
        "description": "A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0011493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011493",
            "name": "Stickler syndrome type 2",
            "description": "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21)."
        },
        {
            "id": "MONDO:0011493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011493",
            "name": "COL11A1 Stickler syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011493",
            "name": "Stickler syndrome caused by mutation in COL11A1",
            "description": ""
        },
        {
            "id": "MONDO:0011493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011493",
            "name": "Stickler syndrome type II",
            "description": ""
        },
        {
            "id": "MONDO:0011493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011493",
            "name": "STICKLER syndrome, type II",
            "description": ""
        },
        {
            "id": "MONDO:0011493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011493",
            "name": "STL 2",
            "description": ""
        },
        {
            "id": "MONDO:0011493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011493",
            "name": "STL2",
            "description": ""
        },
        {
            "id": "MONDO:0011493",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011493",
            "name": "Stickler syndrome, type 2",
            "description": ""
        },
        {
            "id": "MIM:604841",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604841",
            "name": "Stickler syndrome 2",
            "description": "Stickler syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080675"
    ],
    "unlinked_id_list": []
}