{
    "disease_id": "DOID:0112198",
    "recommended_name": {
        "id": "DOID:0112198",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112198",
        "name": "spondyloepimetaphyseal dysplasia with joint laxity type 1",
        "description": "A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33."
    },
    "synonyms": [
        {
            "id": "DOID:0112198",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112198",
            "name": "SEMDJL1",
            "description": ""
        },
        {
            "id": "DOID:0112198",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112198",
            "name": "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures",
            "description": ""
        },
        {
            "id": "MONDO:0010075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010075",
            "name": "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures",
            "description": "Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene."
        },
        {
            "id": "MONDO:0010075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010075",
            "name": "SEMDJL",
            "description": ""
        },
        {
            "id": "MONDO:0010075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010075",
            "name": "B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity",
            "description": ""
        },
        {
            "id": "MONDO:0010075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010075",
            "name": "SEMDJL1",
            "description": ""
        },
        {
            "id": "MONDO:0010075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010075",
            "name": "spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6",
            "description": ""
        },
        {
            "id": "MONDO:0010075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010075",
            "name": "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type",
            "description": ""
        },
        {
            "id": "MONDO:0010075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010075",
            "name": "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures",
            "description": ""
        },
        {
            "id": "MONDO:0010075",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010075",
            "name": "spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures",
            "description": ""
        },
        {
            "id": "MIM:271640",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/271640",
            "name": "Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures",
            "description": "Spondyloepimetaphyseal dysplasia with joint laxity, 1, with or without fractures"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112198"
    ],
    "unlinked_id_list": []
}