{
    "disease_id": "DOID:0111243", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007055", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007055", 
            "name": "acromicric dysplasia; ACMICD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007055", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007055", 
            "name": "ACMICD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007055", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007055", 
            "name": "acromicric skeletal dysplasia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111243", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111243", 
            "name": "ACMICD"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111243", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111243", 
            "name": "acromicric skeletal dysplasia"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111243", 
        "description": "An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111243", 
        "name": "acromicric dysplasia"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/102370", 
            "id": "102370", 
            "database": "MIM"
        }
    ]
}
