{
    "disease_id": "DOID:0080342", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010265", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010265", 
            "name": "OFD1 Simpson-Golabi-Behmel syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010265", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010265", 
            "name": "SGBS2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010265", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010265", 
            "name": "Simpson-Golabi-Behmel syndrome caused by mutation in OFD1"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010265", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010265", 
            "name": "lethal variant of Simpson-Golabi-Behmel syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010265", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010265", 
            "name": "Simpson-Golabi-Behmel syndrome, type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010265", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010265", 
            "name": "Simpson-Golabi-Behmel syndrome, type 2; SGBS2"
        }, 
        {
            "url": "https://www.omim.org/entry/300209", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:300209", 
            "name": "Simpson-Golabi-Behmel syndrome 2"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080342", 
        "description": "A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080342", 
        "name": "Simpson-Golabi-Behmel syndrome type 2"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/300209", 
            "id": "300209", 
            "database": "MIM"
        }
    ]
}