{
    "disease_id": "DOID:0080677",
    "recommended_name": {
        "id": "DOID:0080677",
        "resource": "Disease Ontology",
        "url": "https://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": "otospondylomegaepiphyseal dysplasia, autosomal dominant",
            "description": "A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities."
        },
        {
            "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": "OSMED, Heterozygous",
            "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": "OSMEDA",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Pierre Robin sequence-fetal chondrodysplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Pierre Robin syndrome with fetal chondrodysplasia",
            "description": ""
        },
        {
            "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": "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": "Pierre Robin syndrome with foetal chondrodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Pierre Robin syndrome-fetal chondrodysplasia syndrome",
            "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": "STL3",
            "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, non-ocular 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, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "WZS",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Weissenbacher-Zweymuller syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "heterozygous OSMED",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "heterozygous otospondylomegaepiphyseal dysplasia",
            "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 nonocular type",
            "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": "Weissenbacher-Zweymller syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "otospondylomegaepiphyseal dysplasia, autosomal dominant",
            "description": "A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities."
        },
        {
            "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": "OSMED, Heterozygous",
            "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": "OSMEDA",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Pierre Robin sequence-fetal chondrodysplasia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Pierre Robin syndrome with fetal chondrodysplasia",
            "description": ""
        },
        {
            "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": "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": "Pierre Robin syndrome with foetal chondrodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Pierre Robin syndrome with foetal chondrodysplasia Stickler syndrome, Nonocular type, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Pierre Robin syndrome-fetal chondrodysplasia syndrome",
            "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": "STL3",
            "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, non-ocular 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, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "WZS",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "Weissenbacher-Zweymuller syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "heterozygous OSMED",
            "description": ""
        },
        {
            "id": "MONDO:0008490",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008490",
            "name": "heterozygous otospondylomegaepiphyseal dysplasia",
            "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 nonocular type",
            "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": "Weissenbacher-Zweymller syndrome",
            "description": ""
        },
        {
            "id": "MIM:184840",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/184840",
            "name": "Otospondylomegaepiphyseal dysplasia, autosomal dominant",
            "description": "Otospondylomegaepiphyseal dysplasia, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080677"
    ],
    "unlinked_id_list": []
}