{
    "disease_id": "DOID:0060816", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010333", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010333", 
            "name": "corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010333", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010333", 
            "name": "mental retardation, X-linked, syndromic 28"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010333", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010333", 
            "name": "Graham-Cox syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010333", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010333", 
            "name": "MRXS28"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010333", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010333", 
            "name": "agenesis of the corpus callosum-intellectual disability-coloboma-micrognathia syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0010333", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0010333", 
            "name": "corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060816", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060816", 
            "name": "Graham-Cox syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060816", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060816", 
            "name": "MRXS28"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060816", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060816", 
            "name": "mental retardation, X-linked, syndromic 28"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060816", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060816", 
            "name": "corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060816", 
        "description": "A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia,  sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060816", 
        "name": "corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060816#disease-associations", 
            "id": "0060816", 
            "database": "Alliance of Genome Resources"
        }
    ]
}
