{
    "disease_id": "DOID:5325", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009997", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009997", 
            "name": "pseudothalidomide syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009997", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009997", 
            "name": "SC pseudothalidomide syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009997", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009997", 
            "name": "Roberts syndrome/SC phocomelia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009997", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009997", 
            "name": "SC phocomelia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009997", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009997", 
            "name": "SC phocomelia syndrome (mild variant of Roberts syndrome)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009997", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009997", 
            "name": "long bone deficiencies associated with cleft LIP-palate"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009997", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009997", 
            "name": "Roberts tetraphocomelia syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009997", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009997", 
            "name": "ROBERTS syndrome; RBS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009997", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009997", 
            "name": "RBS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009997", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009997", 
            "name": "Roberts-SC phocomelia syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009997", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009997", 
            "name": "Tetraphocomelia-cleft palate syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009997", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009997", 
            "name": "Appelt-Gerken-Lenz syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:5325", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:5325", 
            "name": "SC phocomelia syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:5325", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:5325", 
            "name": "RBS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:5325", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:5325", 
            "name": "LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:5325", 
        "description": "A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in ESCO2 on chromosome 8p21.1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:5325", 
        "name": "Roberts syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/268300", 
            "id": "268300", 
            "database": "MIM"
        }, 
        {
            "url": "https://www.omim.org/entry/269000", 
            "id": "269000", 
            "database": "MIM"
        }
    ]
}