{
    "disease_id": "DOID:0060867",
    "recommended_name": {
        "id": "DOID:0060867",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060867",
        "name": "macrocephaly-autism syndrome",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0060867",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060867",
            "name": "macrocephaly-intellectual disability-autism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011537",
            "name": "macrocephaly-autism syndrome",
            "description": "An autosomal dominant disease 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."
        },
        {
            "id": "MONDO:0011537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011537",
            "name": "macrocephaly-intellectual disability-autism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011537",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011537",
            "name": "macrocephaly/autism syndrome",
            "description": ""
        },
        {
            "id": "MIM:605309",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605309",
            "name": "Macrocephaly/autism syndrome",
            "description": "Macrocephaly/autism syndrome"
        }
    ]
}