{
    "disease_id": "DOID:0112199",
    "recommended_name": {
        "id": "DOID:0112199",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112199",
        "name": "spondyloepimetaphyseal dysplasia with joint laxity type 2",
        "description": "A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0112199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112199",
            "name": "SEMD-MD",
            "description": ""
        },
        {
            "id": "DOID:0112199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112199",
            "name": "SEMDJL2",
            "description": ""
        },
        {
            "id": "DOID:0112199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112199",
            "name": "spondyloepimetaphyseal dysplasia with joint laxicity, Hall type",
            "description": ""
        },
        {
            "id": "DOID:0112199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112199",
            "name": "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type",
            "description": ""
        },
        {
            "id": "DOID:0112199",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112199",
            "name": "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type",
            "description": ""
        },
        {
            "id": "MONDO:0011335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "name": "spondyloepimetaphyseal dysplasia with multiple dislocations",
            "description": "A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity."
        },
        {
            "id": "MONDO:0011335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "name": "SEMD-MD",
            "description": ""
        },
        {
            "id": "MONDO:0011335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "name": "SEMDJL2",
            "description": ""
        },
        {
            "id": "MONDO:0011335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "name": "spondyloepimetaphyseal dysplasia with joint laxicity, Hall type",
            "description": ""
        },
        {
            "id": "MONDO:0011335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "name": "spondyloepimetaphyseal dysplasia with joint laxity type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "name": "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type",
            "description": ""
        },
        {
            "id": "MONDO:0011335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "name": "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type",
            "description": ""
        },
        {
            "id": "MONDO:0011335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "name": "spondyloepimetaphyseal dysplasia with JOINT laxity type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "name": "spondyloepimetaphyseal dysplasia with multiple dislocations Hall type",
            "description": ""
        },
        {
            "id": "MONDO:0011335",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011335",
            "name": "spondyloepimetaphyseal dysplasia with multiple dislocations leptodactylic type",
            "description": ""
        },
        {
            "id": "MIM:603546",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603546",
            "name": "Spondyloepimetaphyseal dysplasia with joint laxity, 2",
            "description": "Spondyloepimetaphyseal dysplasia with joint laxity, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112199"
    ],
    "unlinked_id_list": []
}