{
    "disease_id": "DOID:0111554", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008477", 
            "name": "spondylometaphyseal dysplasia, Kozlowski type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008477", 
            "name": "SMDK"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008477", 
            "name": "Jequier-Kozlowski syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008477", 
            "name": "Jequier Kozlowski skeletal dysplasia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008477", 
            "name": "spondylometaphyseal dysplasia, Kozlowski type; SMDK"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008477", 
            "name": "skeletal dysplasia Jequier-Kozlowski type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008477", 
            "name": "SmD Kozlowski type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008477", 
            "name": "SmD, Kozlowski type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008477", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008477", 
            "name": "Dysmorphism arthrogryposis skeletal maturation advanced"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111554", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111554", 
            "name": "dysmorphism arthrogryposis skeletal maturation advanced"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111554", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111554", 
            "name": "Jequier Kozlowski skeletal dysplasia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111554", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111554", 
            "name": "Jequier-Kozlowski syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111554", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111554", 
            "name": "SMD Kozlowski type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111554", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111554", 
            "name": "skeletal dysplasia Jequier-Kozlowski type"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111554", 
        "description": "A metaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111554", 
        "name": "spondylometaphyseal dysplasia Kozlowski type"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/184252", 
            "id": "184252", 
            "database": "MIM"
        }
    ]
}