{
    "disease_id": "DOID:0080677",
    "recommended_name": {
        "id": "DOID:0080677",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080677",
        "name": "otospondylomegaepiphyseal dysplasia, autosomal dominant",
        "description": "An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Stickler syndrome type 3",
            "description": "Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. Both arecaused by mutations in the COL2A1 gene. Stickler syndrome type II , sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. Stickler syndrome type III , sometimes called the nonocular form, is caused by mutations in the COL11A2 gene. These forms of Stickler syndrome are inherited in an autosomal dominant manner. Stickler syndrome type IV is caused by mutations in the COL9A1 gene, and Stickler syndrome type V is caused by mutations in the COL9A2 gene. These types of Stickler syndrome are inherited in an autosomal recessive manner."
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Stickler syndrome, type 3",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "STICKLER syndrome, type III; STL3",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Stickler syndrome nonocular type",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "OSMED, heterozygous",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "otospondylomegaepiphyseal dysplasia, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "STICKLER syndrome, type III",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "OSMEDA",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "otospondylomegaepiphyseal dysplasia, autosomal dominant; OSMEDA",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "COL11A2 Stickler syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "STL3",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Stickler syndrome, non-ocular type",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Stickler syndrome caused by mutation in COL11A2",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Stickler syndrome, type III, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Stickler syndrome, Nonocular type",
            "description": ""
        },
        {
            "id": "MIM:184840",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/184840",
            "name": "Otospondylomegaepiphyseal dysplasia, autosomal dominant",
            "description": "Otospondylomegaepiphyseal dysplasia, autosomal dominant"
        }
    ]
}