{
    "disease_id": "DOID:0060589", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008995", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008995", 
            "name": "cleidocranial dysplasia-micrognathia-absent thumbs syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008995", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008995", 
            "name": "cleidocranial dysplasia, micrognathia, absent thumbs, & distal aphalangia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008995", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008995", 
            "name": "Yunis-Varon syndrome; YVS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008995", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008995", 
            "name": "cleidocranial dysplasia with micrognathia, absent thumbs, and distal Aphalangia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008995", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008995", 
            "name": "YVS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008995", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008995", 
            "name": "Yunis-Varn syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0008995", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0008995", 
            "name": "Yunis Varon syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060589", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060589", 
            "name": "cleidocranial dysplasia-micrognathia-absent thumbs syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060589", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060589", 
            "name": "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060589", 
        "description": "A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060589", 
        "name": "Yunis-Varon syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/216340", 
            "id": "216340", 
            "database": "MIM"
        }
    ]
}