{
    "disease_id": "DOID:0111514", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007986", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007986", 
            "name": "Metatropic dysplasia, nonlethal dominant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007986", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007986", 
            "name": "Metatropic dwarfism"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111514", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111514", 
            "name": "metatropic dwarfism"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111514", 
        "description": "A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in TRPV4 on chromosome 12q24.11.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111514", 
        "name": "metatropic dysplasia"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/156530", 
            "id": "156530", 
            "database": "MIM"
        }
    ]
}