{
    "disease_id": "DOID:0060867", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011537", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011537", 
            "name": "macrocephaly-intellectual disability-autism syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011537", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011537", 
            "name": "macrocephaly/autism syndrome"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060867", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060867", 
            "name": "macrocephaly-intellectual disability-autism syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060867", 
        "description": "A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060867", 
        "name": "macrocephaly-autism syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060867#disease-associations", 
            "id": "0060867", 
            "database": "Alliance of Genome Resources"
        }
    ]
}