{
    "disease_id": "DOID:0060481",
    "recommended_name": {
        "id": "DOID:0060481",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060481",
        "name": "Goldberg-Shprintzen syndrome",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0060481",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0060481",
            "name": "Goldberg-Shprintzen megacolon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012280",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012280",
            "name": "Goldberg-Shprintzen megacolon syndrome",
            "description": "Goldberg-Shprintzen megacolon syndrome is a multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability."
        },
        {
            "id": "MONDO:0012280",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012280",
            "name": "GOSHS",
            "description": ""
        },
        {
            "id": "MONDO:0012280",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012280",
            "name": "Goldberg-Shprintzen megacolon syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012280",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012280",
            "name": "megacolon-microcephaly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012280",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012280",
            "name": "Goldberg-Shprintzen syndrome",
            "description": ""
        },
        {
            "id": "MIM:609460",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609460",
            "name": "Goldberg-Shprintzen syndrome",
            "description": "Goldberg-Shprintzen syndrome"
        }
    ]
}