{
    "disease_id": "DOID:0111554",
    "recommended_name": {
        "id": "DOID:0111554",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111554",
        "name": "spondylometaphyseal dysplasia Kozlowski type",
        "description": "A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111554",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111554",
            "name": "dysmorphism arthrogryposis skeletal maturation advanced",
            "description": ""
        },
        {
            "id": "DOID:0111554",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111554",
            "name": "Jequier Kozlowski skeletal dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0111554",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111554",
            "name": "Jequier-Kozlowski syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111554",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111554",
            "name": "SMD Kozlowski type",
            "description": ""
        },
        {
            "id": "DOID:0111554",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111554",
            "name": "skeletal dysplasia Jequier-Kozlowski type",
            "description": ""
        },
        {
            "id": "MONDO:0008477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008477",
            "name": "spondylometaphyseal dysplasia, Kozlowski type",
            "description": "Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly."
        },
        {
            "id": "MONDO:0008477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008477",
            "name": "spondylometaphyseal dysplasia, Kozlowski type",
            "description": ""
        },
        {
            "id": "MONDO:0008477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008477",
            "name": "Dysmorphism arthrogryposis skeletal maturation advanced",
            "description": ""
        },
        {
            "id": "MONDO:0008477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008477",
            "name": "Jequier Kozlowski skeletal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008477",
            "name": "Jequier-Kozlowski syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008477",
            "name": "SMDK",
            "description": ""
        },
        {
            "id": "MONDO:0008477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008477",
            "name": "SmD Kozlowski type",
            "description": ""
        },
        {
            "id": "MONDO:0008477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008477",
            "name": "SmD, Kozlowski type",
            "description": ""
        },
        {
            "id": "MONDO:0008477",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008477",
            "name": "skeletal dysplasia Jequier-Kozlowski type",
            "description": ""
        },
        {
            "id": "MIM:184252",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/184252",
            "name": "Spondylometaphyseal dysplasia Kozlowski type",
            "description": "Spondylometaphyseal dysplasia Kozlowski type"
        }
    ]
}