{
    "disease_id": "DOID:0070301",
    "recommended_name": {
        "id": "DOID:0070301",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070301",
        "name": "multiple epiphyseal dysplasia 6",
        "description": "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070301",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070301",
            "name": "EDM6",
            "description": ""
        },
        {
            "id": "MONDO:0013591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013591",
            "name": "epiphyseal dysplasia, multiple, 6",
            "description": "Any multiple epiphyseal dysplasia in which the cause of the disease is a mutation in the COL9A1 gene."
        },
        {
            "id": "MONDO:0013591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013591",
            "name": "COL9A1 multiple epiphyseal dysplasia (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0013591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013591",
            "name": "epiphyseal dysplasia, multiple, 6",
            "description": ""
        },
        {
            "id": "MONDO:0013591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013591",
            "name": "epiphyseal dysplasia, multiple, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0013591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013591",
            "name": "multiple epiphyseal dysplasia (disease) caused by mutation in COL9A1",
            "description": ""
        },
        {
            "id": "MONDO:0013591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013591",
            "name": "EDM6",
            "description": ""
        },
        {
            "id": "MONDO:0013591",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013591",
            "name": "multiple epiphyseal dysplasia 6",
            "description": ""
        },
        {
            "id": "MIM:614135",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614135",
            "name": "Multiple epiphyseal dysplasia 6",
            "description": "Multiple epiphyseal dysplasia 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070301"
    ],
    "unlinked_id_list": []
}