{
    "disease_id": "DOID:0080026",
    "recommended_name": {
        "id": "DOID:0080026",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080026",
        "name": "otospondylomegaepiphyseal dysplasia, autosomal recessive",
        "description": "An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss."
    },
    "synonyms": [
        {
            "id": "DOID:0080026",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080026",
            "name": "CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS",
            "description": ""
        },
        {
            "id": "DOID:0080026",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080026",
            "name": "NANCE-INSLEY SYNDROME",
            "description": ""
        },
        {
            "id": "DOID:0080026",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080026",
            "name": "NANCE-SWEENEY CHONDRODYSPLASIA",
            "description": ""
        },
        {
            "id": "DOID:0080026",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080026",
            "name": "OSMEDB",
            "description": ""
        },
        {
            "id": "MONDO:0044206",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044206",
            "name": "otospondylomegaepiphyseal dysplasia, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0044206",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044206",
            "name": "otospondylomegaepiphyseal dysplasia, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0044206",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044206",
            "name": "Nance-Insley syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044206",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044206",
            "name": "Nance-Sweeney chondrodysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0044206",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044206",
            "name": "OSMED",
            "description": ""
        },
        {
            "id": "MONDO:0044206",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044206",
            "name": "OSMEDB",
            "description": ""
        },
        {
            "id": "MONDO:0044206",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044206",
            "name": "Weissenbacher-Zweymuller syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0044206",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044206",
            "name": "Weissenbacher-Zweymuller syndrome, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0044206",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0044206",
            "name": "chondrodystrophy with sensorineural deafness",
            "description": ""
        },
        {
            "id": "MIM:215150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/215150",
            "name": "Otospondylomegaepiphyseal dysplasia, autosomal recessive",
            "description": "Otospondylomegaepiphyseal dysplasia, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080026"
    ],
    "unlinked_id_list": []
}