{
    "disease_id": "DOID:0111687",
    "recommended_name": {
        "id": "DOID:0111687",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111687",
        "name": "Potocki-Shaffer syndrome",
        "description": "A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111687",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111687",
            "name": "11p11.2 deletion",
            "description": ""
        },
        {
            "id": "DOID:0111687",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111687",
            "name": "PSS",
            "description": ""
        },
        {
            "id": "DOID:0111687",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111687",
            "name": "proximal 11p deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011022",
            "name": "Potocki-Shaffer syndrome",
            "description": "Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2)."
        },
        {
            "id": "MONDO:0011022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011022",
            "name": "11p11.2 deletion",
            "description": ""
        },
        {
            "id": "MONDO:0011022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011022",
            "name": "Potocki-Shaffer syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011022",
            "name": "proximal 11p deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011022",
            "name": "Defect11 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011022",
            "name": "PSS",
            "description": ""
        },
        {
            "id": "MONDO:0011022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011022",
            "name": "chromosome 11P11.2 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011022",
            "name": "deletion of chromosome 11p11.2",
            "description": ""
        },
        {
            "id": "MONDO:0011022",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011022",
            "name": "proximal 11P deletion syndrome",
            "description": ""
        },
        {
            "id": "MIM:601224",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601224",
            "name": "Potocki-Shaffer syndrome",
            "description": "Potocki-Shaffer syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111687"
    ],
    "unlinked_id_list": []
}