{
    "disease_id": "DOID:0060481", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012280", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012280", 
            "name": "Goldberg-Shprintzen megacolon syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012280", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012280", 
            "name": "GOSHS"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012280", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012280", 
            "name": "megacolon-microcephaly syndrome"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0012280", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0012280", 
            "name": "Goldberg-Shprintzen syndrome; GOSHS"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0060481", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0060481", 
            "name": "Goldberg-Shprintzen megacolon syndrome"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0060481", 
        "description": "A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has _material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0060481", 
        "name": "Goldberg-Shprintzen syndrome"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0060481#disease-associations", 
            "id": "0060481", 
            "database": "Alliance of Genome Resources"
        }
    ]
}