{
    "disease_id": "DOID:0080030",
    "recommended_name": {
        "id": "DOID:0080030",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080030",
        "name": "spondyloepimetaphyseal dysplasia, Missouri type",
        "description": "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities."
    },
    "synonyms": [
        {
            "id": "MONDO:0011198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011198",
            "name": "spondyloepimetaphyseal dysplasia, Missouri type",
            "description": "Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood."
        },
        {
            "id": "MONDO:0011198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011198",
            "name": "metaphyseal anadysplasia 1",
            "description": ""
        },
        {
            "id": "MONDO:0011198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011198",
            "name": "spondyloepimetaphyseal dysplasia type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011198",
            "name": "spondyloepimetaphyseal dysplasia Missouri type",
            "description": ""
        },
        {
            "id": "MONDO:0011198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011198",
            "name": "SEMD type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011198",
            "name": "spondyloepimetaphyseal dysplasia, Missouri type",
            "description": ""
        },
        {
            "id": "MONDO:0011198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011198",
            "name": "Missouri type of spondyloepimetaphyseal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0011198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011198",
            "name": "SEMD, Missouri type",
            "description": ""
        },
        {
            "id": "MONDO:0011198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011198",
            "name": "SEMD Missouri type",
            "description": ""
        },
        {
            "id": "MIM:602111",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602111",
            "name": "Spondyloepimetaphyseal dysplasia, Missouri type",
            "description": "Spondyloepimetaphyseal dysplasia, Missouri type"
        }
    ]
}